Annotations
| Gene Info | Sum Func | Function | Gene Ontology | Biocarta Pathways | Kegg Pathways |
|---|---|---|---|---|---|
| Unique id : H002040_01
Name: Epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian) |
Sum Func: | SP Function: isoform 2/truncated isoform may act as an antagonist. | Gene Ontology:
molecular function: biological process: cellular component: cellular component: molecular function: biological process: cellular component: biological process: biological process: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002186_01
Name: Serum response factor (c-fos serum response element-binding transcription factor) |
Sum Func: | SP Function: srf is a transcription factor that binds to the serum response element (sre), a short sequence of dyad symmetry located 300 bp to the 5′ of the site of transcription initiation of some genes (such as c-fos). | Gene Ontology:
molecular function: cellular component: biological process: biological process: molecular function: |
BioCarta Pathways:
1: EGF Signaling Pathway 2: Growth Hormone Signaling Pathway 3: Hop Pathway in Cardiac Development 4: IGF-1 Signaling Pathway 5: IL 6 signaling pathway 6: Insulin Signaling Pathway 7: Role of MAL in Rho-Mediated Activation of SRF 8: PDGF Signaling Pathway |
KEGG Pathways: |
| Unique id : H002055_01
Name: Growth factor receptor-bound protein 2 |
Sum Func: The protein encoded by this gene binds the epidermal growth factor receptor and contains one SH2 domain and two SH3 domains. Its two SH3 domains direct complex formation with proline-rich regions of other proteins, and its SH2 domain binds tyrosine phosphorylated sequences. This gene is similar to the Sem5 gene of C.elegans, which is involved in the signal transduction pathway. Two alternatively spliced transcript variants encoding different isoforms have been found for this gene. | SP Function: | Gene Ontology:
biological process: |
BioCarta Pathways:
1: Angiotensin II mediated activation of JNK Pathway via Pyk2 dependent signaling 2: Calcium Signaling by HBx of Hepatitis B virus 3: TPO Signaling Pathway 4: BCR Signaling Pathway 5: Bioactive Peptide Induced Signaling Pathway 6: CBL mediated ligand-induced downregulation of EGF receptors 7: Transcription factor CREB and its extracellular signals 8: The Co-Stimulatory Signal During T-cell Activation 9: EGF Signaling Pathway 10: EPO Signaling Pathway 11: Role of Erk5 in Neuronal Survival 12: Erk1/Erk2 Mapk Signaling pathway 13: Fc Epsilon Receptor I Signaling in Mast Cells 14: Growth Hormone Signaling Pathway 15: Inhibition of Cellular Proliferation by Gleevec 16: Role of ERBB2 in Signal Transduction and Oncology 17: IGF-1 Signaling Pathway 18: Multiple antiapoptotic pathways from IGF-1R signaling lead to BAD phosphorylation 19: IL 2 signaling pathway 20: IL-2 Receptor Beta Chain in T cell Activation 21: IL 3 signaling pathway 22: IL 4 signaling pathway 23: IL 6 signaling pathway 24: Insulin Signaling Pathway 25: Integrin Signaling Pathway 26: MAP Kinase Signaling Pathway 27: Signaling of Hepatocyte Growth Factor Receptor 28: Nerve growth factor pathway (NGF) 29: p38 MAPK Signaling Pathway 30: PDGF Signaling Pathway 31: PTEN dependent cell cycle arrest and apoptosis 32: Links between Pyk2 and Map Kinases 33: Sprouty regulation of tyrosine kinase signals 34: Activation of Src by Protein-tyrosine phosphatase alpha 35: T Cell Receptor Signaling Pathway 36: Trefoil Factors Initiate Mucosal Healing 37: Trka Receptor Signaling Pathway |
KEGG Pathways: |
| Unique id : H002893_01
Name: V-raf-1 murine leukemia viral oncogene homolog 1 |
Sum Func: Raf-1 is a MAP kinase kinase kinase (MAP3K) which functions downstream of the Ras family of membrane associated GTPases to which it binds directly. Once activated Raf-1 can phosphorylate to activate the dual specificity protein kinases MEK1 and MEK2 which in turn phosphorylate to activate the serine/threonine specific protein kinases ERK1 and ERK2. Activated ERKs are pleiotropic effectors of cell physiology and play an important role in the control of gene expression involved in the cell division cycle, apoptosis, cell differentiation and cell migration. [Contributed text] | SP Function: involved in the transduction of mitogenic signals from the cell membrane to the nucleus. part of the ras-dependent signaling pathway from receptors to the nucleus. | Gene Ontology:
molecular function: biological process: biological process: molecular function: biological process: cellular component: biological process: molecular function: molecular function: molecular function: molecular function: |
BioCarta Pathways:
1: Angiotensin II mediated activation of JNK Pathway via Pyk2 dependent signaling 2: CCR3 signaling in Eosinophils 3: Influence of Ras and Rho proteins on G1 to S Transition 4: TPO Signaling Pathway 5: Roles of ß-arrestin-dependent Recruitment of Src Kinases in GPCR Signaling 6: Role of ß-arrestins in the activation and targeting of MAP kinases 7: BCR Signaling Pathway 8: Bioactive Peptide Induced Signaling Pathway 9: Cadmium induces DNA synthesis and proliferation in macrophages 10: Phosphorylation of MEK1 by cdk5/p35 down regulates the MAP kinase pathway 11: Ceramide Signaling Pathway 12: CXCR4 Signaling Pathway 13: Erk and PI-3 Kinase Are Necessary for Collagen Binding in Corneal Epithelia 14: EGF Signaling Pathway 15: EPO Signaling Pathway 16: Erk1/Erk2 Mapk Signaling pathway 17: fMLP induced chemokine gene expression in HMC-1 cells 18: Fc Epsilon Receptor I Signaling in Mast Cells 19: Growth Hormone Signaling Pathway 20: Inhibition of Cellular Proliferation by Gleevec 21: Signaling Pathway from G-Protein Families 22: Role of ERBB2 in Signal Transduction and Oncology 23: IGF-1 Signaling Pathway 24: Multiple antiapoptotic pathways from IGF-1R signaling lead to BAD phosphorylation 25: IL 2 signaling pathway 26: IL-2 Receptor Beta Chain in T cell Activation 27: IL 3 signaling pathway 28: IL 6 signaling pathway 29: Insulin Signaling Pathway 30: Integrin Signaling Pathway 31: Keratinocyte Differentiation 32: Role of MAL in Rho-Mediated Activation of SRF 33: MAP Kinase Signaling Pathway 34: Signaling of Hepatocyte Growth Factor Receptor 35: NFAT and Hypertrophy of the heart (Transcription in the broken heart) 36: Nerve growth factor pathway (NGF) 37: PDGF Signaling Pathway 38: Links between Pyk2 and Map Kinases 39: Ras Signaling Pathway 40: Aspirin Blocks Signaling Pathway Involved in Platelet Activation 41: Sprouty regulation of tyrosine kinase signals 42: T Cell Receptor Signaling Pathway |
KEGG Pathways:
2: Cell cycle 4: Apoptosis 6: Dorso-ventral axis formation 11: Focal adhesion 13: Tight junction 14: Gap junction 15: Toll-like receptor signaling pathway 16: Jak-STAT signaling pathway 17: Natural killer cell mediated cytotoxicity 18: T cell receptor signaling pathway 19: B cell receptor signaling pathway 20: Fc epsilon RI signaling pathway 21: Circadian rhythm 24: Regulation of actin cytoskeleton |
| Unique id : H003611_01
Name: Mitogen-activated protein kinase kinase 4 |
Sum Func: This gene encodes a dual specificity protein kinase that belongs to the Ser/Thr protein kinase family. This kinase is a direct activator of MAP kinases in response to various environmental stresses or mitogenic stimuli. It has been shown to activate MAPK8/JNK1, MAPK9/JNK2, and MAPK14/p38, but not MAPK1/ERK2 or MAPK3/ERK3. This kinase is phosphorylated, and thus activated by MAP3K1/MEKK. The knockout studies in mice suggested the roles of this kinase in mediating survival signal in T cell development, as well as in the organogenesis of liver. | SP Function: dual specificity kinase that activates the jun kinases mapk8 (jnk1) and mapk9 (jnk2) as well as mapk14 (p38) but not mapk1 (erk2) or mapk3 (erk1). | Gene Ontology:
molecular function: biological process: biological process: molecular function: molecular function: biological process: molecular function: |
BioCarta Pathways:
1: Angiotensin II mediated activation of JNK Pathway via Pyk2 dependent signaling 2: Ceramide Signaling Pathway 3: EGF Signaling Pathway 4: FAS signaling pathway ( CD95 ) 5: Fc Epsilon Receptor I Signaling in Mast Cells 6: Inhibition of Cellular Proliferation by Gleevec 7: Keratinocyte Differentiation 8: MAP Kinase Signaling Pathway 9: p38 MAPK Signaling Pathway 10: PDGF Signaling Pathway 11: Links between Pyk2 and Map Kinases 12: TNF/Stress Related Signaling 13: T Cell Receptor Signaling Pathway 14: TNFR1 Signaling Pathway 15: Toll-Like Receptor Pathway |
KEGG Pathways:
2: Dorso-ventral axis formation 5: Gap junction 6: Toll-like receptor signaling pathway 7: Natural killer cell mediated cytotoxicity 8: Fc epsilon RI signaling pathway 11: Regulation of actin cytoskeleton 14: Epithelial cell signaling in Helicobacter pylori infection |
| Unique id : H001365_01
Name: Protein kinase C, beta 1 |
Sum Func: Protein kinase C (PKC) is a family of serine- and threonine-specific protein kinases that can be activated by calcium and second messenger diacylglycerol. PKC family members phosphorylate a wide variety of protein targets and are known to be involved in diverse cellular signaling pathways. PKC family members also serve as major receptors for phorbol esters, a class of tumor promoters. Each member of the PKC family has a specific expression profile and is believed to play a distinct role in cells. The protein encoded by this gene is one of the PKC family members. This protein kinase has been reported to be involved in many different cellular functions, such as B cell activation, apoptosis induction, endothelial cell proliferation, and intestinal sugar absorption. Studies in mice also suggest that this kinase may also regulate neuronal functions and correlate fear-induced conflict behavior after stress. Alternatively spliced transcript variants encoding distinct isoforms have been reported. | SP Function: this is a calcium-activated, phospholipid-dependent, serine- and threonine-specific enzyme. pkc is activated by diacylglycerol which in turn phosphorylates a range of cellular proteins. pkc also serves as the receptor for phorbol esters, a class of tumor promoters. may be considered as a novel component of the nf-kappa-b signaling axis responsible for the survival and activation of b cells after bcr cross linking (by similarity). | Gene Ontology:
molecular function: molecular function: cellular component: molecular function: biological process: cellular component: biological process: molecular function: molecular function: |
BioCarta Pathways:
1: Bioactive Peptide Induced Signaling Pathway 2: Fc Epsilon Receptor I Signaling in Mast Cells 3: Ion Channel and Phorbal Esters Signaling Pathway 4: T Cell Receptor Signaling Pathway |
KEGG Pathways:
3: Phosphatidylinositol signaling system 8: Gap junction 9: Natural killer cell mediated cytotoxicity |
| Unique id : H003178_01
Name: Mitogen-activated protein kinase 3 |
Sum Func: | SP Function: involved in both the initiation and regulation of meiosis, mitosis, and postmitotic functions in differentiated cells by phosphorylating a number of transcription factors such as elk-1. phosphorylates eif4ebp1; required for initiation of translation. phosphorylates microtubule-associated protein-2 (map2) (by similarity). | Gene Ontology:
molecular function: molecular function: molecular function: molecular function: cellular component: biological process: biological process: molecular function: biological process: molecular function: |
BioCarta Pathways:
1: Angiotensin II mediated activation of JNK Pathway via Pyk2 dependent signaling 2: CCR3 signaling in Eosinophils 3: Influence of Ras and Rho proteins on G1 to S Transition 4: TPO Signaling Pathway 5: Agrin in Postsynaptic Differentiation 6: Roles of ß-arrestin-dependent Recruitment of Src Kinases in GPCR Signaling 7: Regulation of BAD phosphorylation 8: Role of ß-arrestins in the activation and targeting of MAP kinases 9: BCR Signaling Pathway 10: Bioactive Peptide Induced Signaling Pathway 11: Cadmium induces DNA synthesis and proliferation in macrophages 12: Phosphorylation of MEK1 by cdk5/p35 down regulates the MAP kinase pathway 13: Ceramide Signaling Pathway 14: Transcription factor CREB and its extracellular signals 15: CXCR4 Signaling Pathway 16: Repression of Pain Sensation by the Transcriptional Regulator DREAM 17: Regulation of MAP Kinase Pathways Through Dual Specificity Phosphatases 18: Erk and PI-3 Kinase Are Necessary for Collagen Binding in Corneal Epithelia 19: Phospholipids as signalling intermediaries 20: EGF Signaling Pathway 21: Regulation of eIF4e and p70 S6 Kinase 22: EPO Signaling Pathway 23: Role of Erk5 in Neuronal Survival 24: Erk1/Erk2 Mapk Signaling pathway 25: fMLP induced chemokine gene expression in HMC-1 cells 26: Fc Epsilon Receptor I Signaling in Mast Cells 27: Growth Hormone Signaling Pathway 28: Inhibition of Cellular Proliferation by Gleevec 29: Signaling Pathway from G-Protein Families 30: Human Cytomegalovirus and Map Kinase Pathways 31: Role of ERBB2 in Signal Transduction and Oncology 32: IGF-1 Signaling Pathway 33: Multiple antiapoptotic pathways from IGF-1R signaling lead to BAD phosphorylation 34: IL 2 signaling pathway 35: IL-2 Receptor Beta Chain in T cell Activation 36: IL 3 signaling pathway 37: IL 6 signaling pathway 38: Insulin Signaling Pathway 39: Integrin Signaling Pathway 40: Keratinocyte Differentiation 41: How Progesterone Initiates the Oocyte Maturation 42: Role of MAL in Rho-Mediated Activation of SRF 43: MAP Kinase Signaling Pathway 44: Signaling of Hepatocyte Growth Factor Receptor 45: NFAT and Hypertrophy of the heart (Transcription in the broken heart) 46: Nerve growth factor pathway (NGF) 47: Ras-Independent pathway in NK cell-mediated cytotoxicity 48: PDGF Signaling Pathway 49: Pelp1 Modulation of Estrogen Receptor Activity 50: Mechanism of Gene Regulation by Peroxisome Proliferators via PPARa(alpha) 51: PTEN dependent cell cycle arrest and apoptosis 52: Links between Pyk2 and Map Kinases 53: Ras Signaling Pathway 54: Regulation of Splicing through Sam68 55: Aspirin Blocks Signaling Pathway Involved in Platelet Activation 56: Sprouty regulation of tyrosine kinase signals 57: Stat3 Signaling Pathway 58: T Cell Receptor Signaling Pathway 59: Trefoil Factors Initiate Mucosal Healing 60: TGF beta signaling pathway |
KEGG Pathways:
4: Dorso-ventral axis formation 10: Gap junction 11: Toll-like receptor signaling pathway 12: Natural killer cell mediated cytotoxicity 13: Fc epsilon RI signaling pathway 14: Leukocyte transendothelial migration 17: Regulation of actin cytoskeleton 20: Adipocytokine signaling pathway 22: Epithelial cell signaling in Helicobacter pylori infection |
| Unique id : H001600_01
Name: RAS p21 protein activator (GTPase activating protein) 1 |
Sum Func: The protein encoded by this gene is located in the cytoplasm and is part of the GAP1 family of GTPase-activating proteins. The gene product stimulates the GTPase activity of normal RAS p21 but not its oncogenic counterpart. Acting as a suppressor of RAS function, the protein enhances the weak intrinsic GTPase activity of RAS proteins resulting in the inactive GDP-bound form of RAS, thereby allowing control of cellular proliferation and differentiation. Mutations leading to changes in the binding sites of either protein are associated with basal cell carcinomas. Alternative splicing results in two isoforms where the shorter isoform, lacking the N-terminal hydrophobic region but retaining the same activity, appears to be abundantly expressed in placental but not adult tissues. | SP Function: inhibitory regulator of the ras-cyclic amp pathway. stimulates the gtpase of normal but not oncogenic ras p21. | Gene Ontology:
molecular function: biological process: biological process: |
BioCarta Pathways:
1: Cyclins and Cell Cycle Regulation 2: Sonic Hedgehog (SHH) Receptor Ptc1 Regulates cell cycle |
KEGG Pathways: |
| Unique id : H003158_01
Name: Mitogen-activated protein kinase 8 |
Sum Func: The protein encoded by this gene is a member of the MAP kinase family. MAP kinases act as an integration point for multiple biochemical signals, and are involved in a wide variety of cellular processes such as proliferation, differentiation, transcription regulation and development. This kinase is activated by various cell stimuli, and targets specific transcription factors, and thus mediates immediate-early gene expression in response to cell stimuli. The activation of this kinase by tumor-necrosis factor alpha (TNF-alpha) is found to be required for TNF-alpha induced apoptosis. This kinase is also involved in UV radiation induced apoptosis, which is thought to be related to cytochrome c-mediated cell death pathway. Studies of the mouse counterpart of this gene suggested that this kinase play a key role in T cell proliferation, apoptosis and differentiation. Four alternatively spliced transcript variants encoding distinct isoforms have been reported. | SP Function: jnk1 isoforms display different binding patterns: beta-1 preferentially binds to c-jun, whereas alpha-1, alpha-2, and beta- 2 have a similar low level of binding to both c-jun or atf2. however, there is no correlation between binding and phosphorylation, which is achieved at about the same efficiency by all isoforms. | Gene Ontology:
molecular function: biological process: molecular function: molecular function: biological process: biological process: molecular function: biological process: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H001349_01
Name: Janus kinase 1 (a protein tyrosine kinase) |
Sum Func: Janus kinase 1 (JAK1), is a member of a new class of protein-tyrosine kinases (PTK) characterized by the presence of a second phosphotransferase-related domain immediately N-terminal to the PTK domain. The second phosphotransferase domain bears all the hallmarks of a protein kinase, although its structure differs significantly from that of the PTK and threonine/serine kinase family members. JAK1 is a large, widely expressed membrane-associated phosphoprotein. JAK1 is involved in the interferon-alpha/beta and -gamma signal transduction pathways. The reciprocal interdependence between JAK1 and TYK2 activities in the interferon-alpha pathway, and between JAK1 and JAK2 in the interferon-gamma pathway, may reflect a requirement for these kinases in the correct assembly of interferon receptor complexes. These kinases couple cytokine ligand binding to tyrosine phosphorylation of various known signaling proteins and of a unique family of transcription factors termed the signal transducers and activators of transcription, or STATs. | SP Function: tyrosine kinase of the non-receptor type, involved in the ifn-alpha/beta/gamma signal pathway. kinase partner for the interleukin (il)-2 receptor. | Gene Ontology:
molecular function: molecular function: cellular component: biological process: biological process: molecular function: molecular function: |
BioCarta Pathways:
1: EGF Signaling Pathway 2: IFN alpha signaling pathway 3: IFN gamma signaling pathway 4: IL-10 Anti-inflammatory Signaling Pathway 5: IL 2 signaling pathway 6: IL-2 Receptor Beta Chain in T cell Activation 7: IL 4 signaling pathway 8: IL-7 Signal Transduction 9: PDGF Signaling Pathway |
KEGG Pathways:
2: Cell cycle 8: Gap junction 10: Natural killer cell mediated cytotoxicity 11: T cell receptor signaling pathway 12: B cell receptor signaling pathway 13: Fc epsilon RI signaling pathway 14: Leukocyte transendothelial migration 16: Regulation of actin cytoskeleton 18: Adipocytokine signaling pathway 19: Epithelial cell signaling in Helicobacter pylori infection |
| Unique id : H002722_01
Name: Mitogen-activated protein kinase kinase 1 |
Sum Func: The protein encoded by this gene is a member of the dual specificity protein kinase family, which acts as a mitogen-activated protein (MAP) kinase kinase. MAP kinases, also known as extracellular signal-regulated kinases (ERKs), act as an integration point for multiple biochemical signals. This protein kinase lies upstream of MAP kinases and stimulates the enzymatic activity of MAP kinases upon wide variety of extra- and intracellular signals. As an essential component of MAP kinase signal transduction pathway, this kinase is involved in many cellular processes such as proliferation, differentiation, transcription regulation and development. | SP Function: catalyzes the concomitant phosphorylation of a threonine and a tyrosine residue in a thr-glu-tyr sequence located in map kinases. activates erk1 and erk2 map kinases. | Gene Ontology:
molecular function: molecular function: biological process: biological process: biological process: molecular function: molecular function: biological process: molecular function: |
BioCarta Pathways:
1: Angiotensin II mediated activation of JNK Pathway via Pyk2 dependent signaling 2: CCR3 signaling in Eosinophils 3: TPO Signaling Pathway 4: Anthrax Toxin Mechanism of Action 5: Roles of ß-arrestin-dependent Recruitment of Src Kinases in GPCR Signaling 6: Role of ß-arrestins in the activation and targeting of MAP kinases 7: BCR Signaling Pathway 8: Bioactive Peptide Induced Signaling Pathway 9: Cadmium induces DNA synthesis and proliferation in macrophages 10: Phosphorylation of MEK1 by cdk5/p35 down regulates the MAP kinase pathway 11: Ceramide Signaling Pathway 12: CXCR4 Signaling Pathway 13: Erk and PI-3 Kinase Are Necessary for Collagen Binding in Corneal Epithelia 14: EGF Signaling Pathway 15: Map Kinase Inactivation of SMRT Corepressor 16: EPO Signaling Pathway 17: Erk1/Erk2 Mapk Signaling pathway 18: fMLP induced chemokine gene expression in HMC-1 cells 19: Fc Epsilon Receptor I Signaling in Mast Cells 20: Growth Hormone Signaling Pathway 21: Inhibition of Cellular Proliferation by Gleevec 22: Signaling Pathway from G-Protein Families 23: Human Cytomegalovirus and Map Kinase Pathways 24: Role of ERBB2 in Signal Transduction and Oncology 25: IGF-1 Signaling Pathway 26: Multiple antiapoptotic pathways from IGF-1R signaling lead to BAD phosphorylation 27: IL 2 signaling pathway 28: IL 3 signaling pathway 29: IL 6 signaling pathway 30: Insulin Signaling Pathway 31: Integrin Signaling Pathway 32: Keratinocyte Differentiation 33: Role of MAL in Rho-Mediated Activation of SRF 34: MAP Kinase Signaling Pathway 35: Signaling of Hepatocyte Growth Factor Receptor 36: NFAT and Hypertrophy of the heart (Transcription in the broken heart) 37: Nerve growth factor pathway (NGF) 38: Ras-Independent pathway in NK cell-mediated cytotoxicity 39: PDGF Signaling Pathway 40: Links between Pyk2 and Map Kinases 41: Ras Signaling Pathway 42: Aspirin Blocks Signaling Pathway Involved in Platelet Activation 43: Sprouty regulation of tyrosine kinase signals 44: T Cell Receptor Signaling Pathway 45: TGF beta signaling pathway |
KEGG Pathways:
2: Dorso-ventral axis formation 5: Gap junction 6: Toll-like receptor signaling pathway 7: Natural killer cell mediated cytotoxicity 8: Fc epsilon RI signaling pathway 11: Regulation of actin cytoskeleton 14: Epithelial cell signaling in Helicobacter pylori infection |
| Unique id : H003006_01
Name: Angiotensinogen (serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 8) |
Sum Func: The protein encoded by this gene, pre-angiotensinogen or angiotensinogen precursor, is expressed in the liver and is cleaved by the enzyme renin in response to lowered blood pressure. The resulting product, angiotensin I is then cleaved by angiotensin converting enzyme (ACE) to generate the physiologically active enzyme angiotensin II. The protein is involved in maintaining blood pressure and in the pathogenesis of essential hypertension and preeclampsia. | SP Function: angiotensin iii stimulates aldosterone release. | Gene Ontology:
biological process: biological process: cellular component: molecular function: biological process: biological process: molecular function: cellular component: |
BioCarta Pathways:
1: Angiotensin II mediated activation of JNK Pathway via Pyk2 dependent signaling 2: Angiotensin-converting enzyme 2 regulates heart function 3: Bioactive Peptide Induced Signaling Pathway 4: Role of EGF Receptor Transactivation by GPCRs in Cardiac Hypertrophy 5: NFAT and Hypertrophy of the heart (Transcription in the broken heart) |
KEGG Pathways: |
| Unique id : H002573_01
Name: PTK2B protein tyrosine kinase 2 beta |
Sum Func: This gene encodes a cytoplasmic protein tyrosine kinase which is involved in calcium-induced regulation of ion channels and activation of the map kinase signaling pathway. The encoded protein may represent an important signaling intermediate between neuropeptide-activated receptors or neurotransmitters that increase calcium flux and the downstream signals that regulate neuronal activity. The encoded protein undergoes rapid tyrosine phosphorylation and activation in response to increases in the intracellular calcium concentration, nicotinic acetylcholine receptor activation, membrane depolarization, or protein kinase C activation. This protein has been shown to bind CRK-associated substrate, nephrocystin, GTPase regulator associated with FAK, and the SH2 domain of GRB2. The encoded protein is a member of the FAK subfamily of protein tyrosine kinases but lacks significant sequence similarity to kinases from other subfamilies. Four transcript variants encoding two different isoforms have been found for this gene. | SP Function: involved in calcium induced regulation of ion channel and activation of the map kinase signaling pathway. may represent an important signaling intermediate between neuropeptide activated receptors or neurotransmitters that increase calcium flux and the downstream signals that regulate neuronal activity. interacts with the sh2 domain of grb2. may phosphorylate the voltage-gated potassium channel protein kv1.2. its activation is highly correlated with the stimulation of c-jun n-terminal kinase activity. | Gene Ontology:
molecular function: biological process: biological process: cellular component: molecular function: biological process: biological process: biological process: biological process: biological process: molecular function: biological process: molecular function: |
BioCarta Pathways:
1: Angiotensin II mediated activation of JNK Pathway via Pyk2 dependent signaling 2: Pertussis toxin-insensitive CCR5 Signaling in Macrophage 3: Calcium Signaling by HBx of Hepatitis B virus 4: Thrombin signaling and protease-activated receptors 5: Role of nicotinic acetylcholine receptors in the regulation of apoptosis 6: Bioactive Peptide Induced Signaling Pathway 7: CXCR4 Signaling Pathway 8: IL-7 Signal Transduction 9: Ion Channel and Phorbal Esters Signaling Pathway 10: Signaling of Hepatocyte Growth Factor Receptor 11: Ras-Independent pathway in NK cell-mediated cytotoxicity 12: Links between Pyk2 and Map Kinases |
KEGG Pathways:
2: Cell cycle 8: Gap junction 10: Natural killer cell mediated cytotoxicity 11: T cell receptor signaling pathway 12: B cell receptor signaling pathway 13: Fc epsilon RI signaling pathway 14: Leukocyte transendothelial migration 16: Regulation of actin cytoskeleton 18: Adipocytokine signaling pathway 19: Epithelial cell signaling in Helicobacter pylori infection |
| Unique id : H003493_01
Name: MADS box transcription enhancer factor 2, polypeptide B (myocyte enhancer factor 2B) |
Sum Func: | SP Function: transcription factor which binds specifically to the mef2 element present in the regulatory regions of many muscle- specific genes. activates transcription via this element. may be involved in muscle-specific and/or growth factor-related transcription. | Gene Ontology:
biological process: cellular component: biological process: molecular function: molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H001992_01
Name: Activating transcription factor 2 |
Sum Func: This gene encodes a transcription factor that is a member of the leucine zipper family of DNA binding proteins. This protein binds to the cAMP-responsive element (CRE), an octameric palindrome. The protein forms a homodimer or heterodimer with c-Jun and stimulates CRE-dependent transcription. The protein is also a histone acetyltransferase (HAT) that specifically acetylates histones H2B and H4 in vitro; thus it may represent a class of sequence-specific factors that activate transcription by direct effects on chromatin components. Additional transcript variants have been identified but their biological validity has not been determined. | SP Function: this protein binds the camp response element (cre) (consensus: 5′-gtgacgt[ac][ag]-3′), a sequence present in many viral and cellular promoters. | Gene Ontology:
molecular function: molecular function: cellular component: biological process: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002287_01
Name: P21/Cdc42/Rac1-activated kinase 1 (STE20 homolog, yeast) |
Sum Func: PAK proteins are critical effectors that link RhoGTPases to cytoskeleton reorganization and nuclear signaling. PAK proteins, a family of serine/threonine p21-activating kinases, include PAK1, PAK2, PAK3 and PAK4. These proteins serve as targets for the small GTP binding proteins Cdc42 and Rac and have been implicated in a wide range of biological activities. PAK1 regulates cell motility and morphology. Alternative transcripts of this gene have been found, but their full-length natures have not yet been determined. | SP Function: the activated kinase acts on a variety of targets. likely to be the gtpase effector that links the rho-related gtpases to the jnk map kinase pathway. activity inhibited in cells undergoing apoptosis, potentially due to binding of cdc2l1 and cdc2l2. | Gene Ontology:
molecular function: biological process: biological process: biological process: biological process: molecular function: molecular function: |
BioCarta Pathways:
1: Angiotensin II mediated activation of JNK Pathway via Pyk2 dependent signaling 2: Influence of Ras and Rho proteins on G1 to S Transition 3: Agrin in Postsynaptic Differentiation 4: Role of PI3K subunit p85 in regulation of Actin Organization and Cell Migration 5: fMLP induced chemokine gene expression in HMC-1 cells 6: FAS signaling pathway ( CD95 ) 7: MAP Kinase Signaling Pathway 8: Signaling of Hepatocyte Growth Factor Receptor 9: Ras-Independent pathway in NK cell-mediated cytotoxicity 10: Links between Pyk2 and Map Kinases 11: Rac 1 cell motility signaling pathway 12: TNFR1 Signaling Pathway |
KEGG Pathways: |
| Unique id : H002501_01
Name: Ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1) |
Sum Func: The protein encoded by this gene is a GTPase which belongs to the RAS superfamily of small GTP-binding proteins. Members of this superfamily appear to regulate a diverse array of cellular events, including the control of cell growth, cytoskeletal reorganization, and the activation of protein kinases. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. | SP Function: | Gene Ontology:
molecular function: biological process: biological process: |
BioCarta Pathways:
1: Angiotensin II mediated activation of JNK Pathway via Pyk2 dependent signaling 2: Influence of Ras and Rho proteins on G1 to S Transition 3: Y branching of actin filaments 4: Agrin in Postsynaptic Differentiation 5: Tumor Suppressor Arf Inhibits Ribosomal Biogenesis 6: BCR Signaling Pathway 7: Role of PI3K subunit p85 in regulation of Actin Organization and Cell Migration 8: Transcription factor CREB and its extracellular signals 9: Phospholipids as signalling intermediaries 10: fMLP induced chemokine gene expression in HMC-1 cells 11: Role of MAL in Rho-Mediated Activation of SRF 12: MAP Kinase Signaling Pathway 13: Ras-Independent pathway in NK cell-mediated cytotoxicity 14: p38 MAPK Signaling Pathway 15: Phosphoinositides and their downstream targets. 16: Links between Pyk2 and Map Kinases 17: Rac 1 cell motility signaling pathway 18: Ras Signaling Pathway 19: How does salmonella hijack a cell 20: T Cell Receptor Signaling Pathway 21: uCalpain and friends in Cell spread |
KEGG Pathways: |
| Unique id : H002112_01
Name: PTK2 protein tyrosine kinase 2 |
Sum Func: This gene encodes a cytoplasmic protein tyrosine kinase which is found concentrated in the focal adhesions that form between cells growing in the presence of extracellular matrix constituents. The encoded protein is a member of the FAK subfamily of protein tyrosine kinases but lacks significant sequence similarity to kinases from other subfamilies. Activation of this gene may be an important early step in cell growth and intracellular signal transduction pathways triggered in response to certain neural peptides or to cell interactions with the extracellular matrix. At least four transcript variants encoding four different isoforms have been found for this gene, but the full-length natures of only two of them have been determined. | SP Function: non-receptor protein-tyrosine kinase implicated in signaling pathways involved in cell motility, proliferation and apoptosis. activated by tyrosine-phosphorylation in response to either integrin clustering induced by cell adhesion or antibody cross linking, or via g-protein coupled receptor (gpcr) occupancy by ligands such as bombesin or lysophosphatidic acid, or via ldl receptor occupancy. plays a potential role in oncogenic transformations resulting in increased kinase activity. | Gene Ontology:
molecular function: cellular component: cellular component: biological process: biological process: biological process: molecular function: molecular function: molecular function: |
BioCarta Pathways:
1: Angiotensin II mediated activation of JNK Pathway via Pyk2 dependent signaling 2: CCR3 signaling in Eosinophils 3: HIV-I Nef: negative effector of Fas and TNF 4: Role of nicotinic acetylcholine receptors in the regulation of apoptosis 5: Agrin in Postsynaptic Differentiation 6: Cell to Cell Adhesion Signaling 7: Apoptotic Signaling in Response to DNA Damage 8: CXCR4 Signaling Pathway 9: Erk and PI-3 Kinase Are Necessary for Collagen Binding in Corneal Epithelia 10: Phospholipids as signalling intermediaries 11: Integrin Signaling Pathway 12: mCalpain and friends in Cell motility 13: Signaling of Hepatocyte Growth Factor Receptor 14: PTEN dependent cell cycle arrest and apoptosis 15: Aspirin Blocks Signaling Pathway Involved in Platelet Activation 16: Trefoil Factors Initiate Mucosal Healing 17: uCalpain and friends in Cell spread 18: VEGF, Hypoxia, and Angiogenesis |
KEGG Pathways:
2: Cell cycle 8: Gap junction 10: Natural killer cell mediated cytotoxicity 11: T cell receptor signaling pathway 12: B cell receptor signaling pathway 13: Fc epsilon RI signaling pathway 14: Leukocyte transendothelial migration 16: Regulation of actin cytoskeleton 18: Adipocytokine signaling pathway 19: Epithelial cell signaling in Helicobacter pylori infection |
| Unique id : H002405_01
Name: Mitogen-activated protein kinase kinase 2 |
Sum Func: The protein encoded by this gene is a dual specificity protein kinase that belongs to the MAP kinase kinase family. This kinase is known to play a critical role in mitogen growth factor signal transduction. It phosphorylates and thus activates MAPK1/ERK2 and MAPK2/ERK3. The activation of this kinase itself is dependent on the Ser/Thr phosphorylation by MAP kinase kinase kinases. The inhibition or degradation of this kinase is found to be involved in the pathogenesis of Yersinia and anthrax. | SP Function: catalyzes the concomitant phosphorylation of a threonine and a tyrosine residue in a thr-glu-tyr sequence located in map kinases. activates the erk1 and erk2 map kinases (by similarity). | Gene Ontology:
molecular function: cellular component: biological process: molecular function: molecular function: molecular function: |
BioCarta Pathways:
1: Angiotensin II mediated activation of JNK Pathway via Pyk2 dependent signaling 2: Anthrax Toxin Mechanism of Action 3: Roles of ß-arrestin-dependent Recruitment of Src Kinases in GPCR Signaling 4: Role of ß-arrestins in the activation and targeting of MAP kinases 5: Bioactive Peptide Induced Signaling Pathway 6: Phosphorylation of MEK1 by cdk5/p35 down regulates the MAP kinase pathway 7: Erk1/Erk2 Mapk Signaling pathway 8: fMLP induced chemokine gene expression in HMC-1 cells 9: Human Cytomegalovirus and Map Kinase Pathways 10: Integrin Signaling Pathway 11: Role of MAL in Rho-Mediated Activation of SRF 12: MAP Kinase Signaling Pathway 13: Signaling of Hepatocyte Growth Factor Receptor 14: Links between Pyk2 and Map Kinases |
KEGG Pathways:
2: Dorso-ventral axis formation 5: Gap junction 6: Toll-like receptor signaling pathway 7: Natural killer cell mediated cytotoxicity 8: Fc epsilon RI signaling pathway 11: Regulation of actin cytoskeleton 14: Epithelial cell signaling in Helicobacter pylori infection |
| Unique id : H011336_01
Name: Guanine nucleotide binding protein (G protein), q polypeptide |
Sum Func: Guanine nucleotide-binding proteins are a family of heterotrimeric proteins that couple cell surface, 7-transmembrane domain receptors to intracellular signaling pathways. Receptor activation catalyzes the exchange of GTP for GDP bound to the inactive G protein alpha subunit resulting in a conformational change and dissociation of the complex. The G protein alpha and beta-gamma subunits are capable of regulating various cellular effectors. Activation is terminated by a GTPase intrinsic to the G-alpha subunit. G-alpha-q is the alpha subunit of one of the heterotrimeric GTP-binding proteins that mediates stimulation of phospholipase C-beta (MIM 600230).[supplied by OMIM] | SP Function: guanine nucleotide-binding proteins (g proteins) are involved as modulators or transducers in various transmembrane signaling systems. | Gene Ontology:
biological process: molecular function: molecular function: biological process: cellular component: cellular component: biological process: cellular component: biological process: molecular function: biological process: |
BioCarta Pathways:
1: Angiotensin II mediated activation of JNK Pathway via Pyk2 dependent signaling 2: CCR3 signaling in Eosinophils 3: Pertussis toxin-insensitive CCR5 Signaling in Macrophage 4: Thrombin signaling and protease-activated receptors 5: Effects of calcineurin in Keratinocyte Differentiation 6: CXCR4 Signaling Pathway 7: Signaling Pathway from G-Protein Families 8: PKC-catalyzed phosphorylation of inhibitory phosphoprotein of myosin phosphatase 9: Activation of PKC through G protein coupled receptor 10: Links between Pyk2 and Map Kinases 11: G-Protein Signaling Through Tubby Proteins 12: Neuropeptides VIP and PACAP inhibit the apoptosis of activated T cells |
KEGG Pathways: |
| Unique id : H002404_01
Name: Synaptotagmin I |
Sum Func: The synaptotagmins are integral membrane proteins of synaptic vesicles thought to serve as Ca(2+) sensors in the process of vesicular trafficking and exocytosis. Calcium binding to synaptotagmin I participates in triggering neurotransmitter release at the synapse (Fernandez-Chacon et al., 2001 [PubMed 11242035]).[supplied by OMIM] | SP Function: may have a regulatory role in the membrane interactions during trafficking of synaptic vesicles at the active zone of the synapse. it binds acidic phospholipids with a specificity that requires the presence of both an acidic head group and a diacyl backbone. a ca(2+)-dependent interaction between synaptotagmin and putative receptors for activated protein kinase c has also been reported. it can bind to at least three additional proteins in a ca(2+)-independent manner; these are neurexins, syntaxin and ap2. | Gene Ontology:
molecular function: biological process: cellular component: biological process: molecular function: molecular function: molecular function: biological process: biological process: cellular component: biological process: cellular component: molecular function: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H000579_01
Name: Calmodulin 2 (phosphorylase kinase, delta) |
Sum Func: | SP Function: | Gene Ontology:
molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H000732_01
Name: Insulin receptor substrate 1 |
Sum Func: | SP Function: may mediate the control of various cellular processes by insulin. when phosphorylated by the insulin receptor binds specifically to various cellular proteins containing sh2 domains such as phosphatidylinositol 3-kinase p85 subunit or grb2. | Gene Ontology:
cellular component: molecular function: molecular function: molecular function: biological process: molecular function: |
BioCarta Pathways:
1: Regulation of eIF4e and p70 S6 Kinase 2: Growth Hormone Signaling Pathway 3: IGF-1 Signaling Pathway 4: Multiple antiapoptotic pathways from IGF-1R signaling lead to BAD phosphorylation 5: IL-2 Receptor Beta Chain in T cell Activation 6: IL 4 signaling pathway 7: Insulin Signaling Pathway |
KEGG Pathways: |
| Unique id : H002473_01
Name: Insulin-like growth factor 1 receptor |
Sum Func: This receptor binds insulin-like growth factor with a high affinity. It has tyrosine kinase activity. The insulin-like growth factor I receptor plays a critical role in transformation events. Cleavage of the precursor generates alpha and beta subunits. It is highly overexpressed in most malignant tissues where it functions as an anti-apoptotic agent by enhancing cell survival. | SP Function: this receptor binds insulin-like growth factor i (igf i) with a high affinity and igf ii with a lower affinity. it has a tyrosine-protein kinase activity. | Gene Ontology:
molecular function: biological process: molecular function: biological process: molecular function: cellular component: biological process: biological process: molecular function: molecular function: biological process: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002890_01
Name: Ribosomal protein S6 kinase, 90kDa, polypeptide 1 |
Sum Func: This gene encodes a member of the RSK (ribosomal S6 kinase) family of serine/threonine kinases. This kinase contains 2 nonidentical kinase catalytic domains and phosphorylates various substrates, including members of the mitogen-activated kinase (MAPK) signalling pathway. The activity of this protein has been implicated in controlling cell growth and differentiation. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. | SP Function: phosphorylates a wide range of substrates including ribosomal protein s6. implicated in the activation of the mitogen- activated kinase cascade. | Gene Ontology:
molecular function: biological process: molecular function: biological process: molecular function: |
BioCarta Pathways:
1: Regulation of BAD phosphorylation 2: Transcription factor CREB and its extracellular signals 3: Role of Erk5 in Neuronal Survival 4: Erk1/Erk2 Mapk Signaling pathway 5: Cell Cycle: G2/M Checkpoint 6: Growth Hormone Signaling Pathway 7: Multiple antiapoptotic pathways from IGF-1R signaling lead to BAD phosphorylation 8: How Progesterone Initiates the Oocyte Maturation 9: MAP Kinase Signaling Pathway 10: Melanocyte Development and Pigmentation Pathway |
KEGG Pathways:
2: Cell cycle 4: Apoptosis 6: Dorso-ventral axis formation 11: Focal adhesion 13: Tight junction 14: Gap junction 15: Toll-like receptor signaling pathway 16: Jak-STAT signaling pathway 17: Natural killer cell mediated cytotoxicity 18: T cell receptor signaling pathway 19: B cell receptor signaling pathway 20: Fc epsilon RI signaling pathway 21: Circadian rhythm 24: Regulation of actin cytoskeleton |
| Unique id : H002624_01
Name: Insulin receptor |
Sum Func: After removal of the precursor signal peptide, the insulin receptor precursor is post-translationally cleaved into two chains (alpha and beta) that are covalently linked. Binding of insulin to the insulin receptor (INSR) stimulates glucose uptake. | SP Function: this receptor binds insulin and has a tyrosine-protein kinase activity. isoform short has a higher affinity for insulin. | Gene Ontology:
molecular function: biological process: biological process: biological process: biological process: molecular function: cellular component: biological process: molecular function: molecular function: biological process: molecular function: biological process: molecular function: |
BioCarta Pathways:
1: Growth Hormone Signaling Pathway 2: Control of skeletal myogenesis by HDAC & calcium/calmodulin-dependent kinase (CaMK) 3: Insulin Signaling Pathway |
KEGG Pathways:
3: Cytokine-cytokine receptor interaction 4: Apoptosis 5: Dorso-ventral axis formation 10: Gap junction 11: Hematopoietic cell lineage 13: Regulation of actin cytoskeleton 17: Dentatorubropallidoluysian atrophy (DRPLA) 18: Epithelial cell signaling in Helicobacter pylori infection |
| Unique id : H002261_01
Name: Signal transducer and activator of transcription 5B |
Sum Func: The protein encoded by this gene is a member of the STAT family of transcription factors. In response to cytokines and growth factors, STAT family members are phosphorylated by the receptor associated kinases, and then form homo- or heterodimers that translocate to the cell nucleus where they act as transcription activators. This protein mediates the signal transduction triggered by various cell ligands, such as IL2, IL4, CSF1, and different growth hormones. It has been shown to be involved in diverse biological processes, such as TCR signaling, apoptosis, adult mammary gland development, and sexual dimorphism of liver gene expression. This gene was found to fuse to retinoic acid receptor-alpha (RARA) gene in a small subset of acute promyelocytic leukemias (APLL). The dysregulation of the signaling pathways mediated by this protein may be the cause of the APLL. | SP Function: carries out a dual function: signal transduction and activation of transcription. binds to the gas element and activates prl-induced transcription. | Gene Ontology:
biological process: biological process: cellular component: biological process: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H009068_01
Name: Signal transducer and activator of transcription 5B |
Sum Func: The protein encoded by this gene is a member of the STAT family of transcription factors. In response to cytokines and growth factors, STAT family members are phosphorylated by the receptor associated kinases, and then form homo- or heterodimers that translocate to the cell nucleus where they act as transcription activators. This protein mediates the signal transduction triggered by various cell ligands, such as IL2, IL4, CSF1, and different growth hormones. It has been shown to be involved in diverse biological processes, such as TCR signaling, apoptosis, adult mammary gland development, and sexual dimorphism of liver gene expression. This gene was found to fuse to retinoic acid receptor-alpha (RARA) gene in a small subset of acute promyelocytic leukemias (APLL). The dysregulation of the signaling pathways mediated by this protein may be the cause of the APLL. | SP Function: carries out a dual function: signal transduction and activation of transcription. binds to the gas element and activates prl-induced transcription. | Gene Ontology:
biological process: biological process: cellular component: biological process: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003200_01
Name: Mitogen-activated protein kinase kinase 3 |
Sum Func: The protein encoded by this gene is a dual specificity protein kinase that belongs to the MAP kinase kinase family. This kinase is activated by mitogenic and environmental stress, and participates in the MAP kinase-mediated signaling cascade. It phosphorylates and thus activates MAPK14/p38-MAPK. This kinase can be activated by insulin, and is necessary for the expression of glucose transporter. Expression of RAS oncogene is found to result in the accumulation of the active form of this kinase, which thus leads to the constitutive activation of MAPK14, and confers oncogenic transformation of primary cells. The inhibition of this kinase is involved in the pathogenesis of Yersina pseudotuberculosis. Three alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported. | SP Function: dual specificity kinase. is activated by cytokines and environmental stress in vivo. catalyzes the concomitant phosphorylation of a threonine and a tyrosine residue in the map kinase p38. | Gene Ontology:
molecular function: molecular function: biological process: molecular function: molecular function: biological process: molecular function: |
BioCarta Pathways:
1: GATA3 participate in activating the Th2 cytokine genes expression 2: fMLP induced chemokine gene expression in HMC-1 cells 3: Human Cytomegalovirus and Map Kinase Pathways 4: Signal transduction through IL1R 5: Keratinocyte Differentiation 6: MAP Kinase Signaling Pathway 7: NFkB activation by Nontypeable Hemophilus influenzae 8: Links between Pyk2 and Map Kinases 9: TNF/Stress Related Signaling 10: Toll-Like Receptor Pathway |
KEGG Pathways:
2: Dorso-ventral axis formation 5: Gap junction 6: Toll-like receptor signaling pathway 7: Natural killer cell mediated cytotoxicity 8: Fc epsilon RI signaling pathway 11: Regulation of actin cytoskeleton 14: Epithelial cell signaling in Helicobacter pylori infection |
| Unique id : H002895_01
Name: Mitogen-activated protein kinase 14 |
Sum Func: The protein encoded by this gene is a member of the MAP kinase family. MAP kinases act as an integration point for multiple biochemical signals, and are involved in a wide variety of cellular processes such as proliferation, differentiation, transcription regulation and development. This kinase is activated by various environmental stresses and proinflammatory cytokines. The activation requires its phosphorylation by MAP kinase kinases (MKKs), or its autophosphorylation triggered by the interaction of MAP3K7IP1/TAB1 protein with this kinase. The substrates of this kinase include transcription regulator ATF2, MEF2C, and MAX, cell cycle regulator CDC25B, and tumor suppressor p53, which suggest the roles of this kinase in stress related transcription and cell cycle regulation, as well as in genotoxic stress response. Four alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported. | SP Function: responds to activation by environmental stress, pro- inflammatory cytokines and lipopolysaccharide (lps) by phosphorylating a number of transcription factors, such as elk1 and atf2 and several downstream kinases, such as mapkapk2 and mapkapk5. plays a critical role in the production of some cytokines, for example il-6. may play a role in stabilization of epo mrna during hypoxic stress. isoform mxi2 activation is stimulated by mitogens and oxidative stress and only poorly phosphorylates elk1 and atf2. isoform exip may play a role in the early onset of apoptosis. | Gene Ontology:
molecular function: molecular function: molecular function: molecular function: biological process: biological process: biological process: biological process: cellular component: cellular component: biological process: biological process: molecular function: molecular function: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003332_01
Name: V-crk sarcoma virus CT10 oncogene homolog (avian)-like |
Sum Func: v-CRK avian sarcoma virus CT10-homolog-like contains one SH2 domain and two SH3 domains. CRKL has been shown to activate the RAS and JUN kinase signaling pathways and transform fibroblasts in a RAS-dependent fashion. It is a substrate of the BCR-ABL tyrosine kinase and plays a role in fibroblast transformation by BCR-ABL. In addition, CRKL has oncogenic potential. | SP Function: may mediate the transduction of intracellular signals. | Gene Ontology:
biological process: biological process: molecular function: biological process: biological process: biological process: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002847_01
Name: Protein tyrosine phosphatase, receptor type, B |
Sum Func: The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP contains an extracellular domain, a single transmembrane segment and one intracytoplasmic catalytic domain, thus belongs to receptor type PTP. The extracellular region of this PTP is composed of multiple fibronectin type_III repeats, which was shown to interact with neuronal receptor and cell adhesion molecules, such as contactin and tenascin C. This protein was also found to interact with sodium channels, and thus may regulate sodium channels by altering tyrosine phosphorylation status. The functions of the interaction partners of this protein implicate the roles of this PTP in cell adhesion, neurite growth, and neuronal differentiation. | SP Function: | Gene Ontology:
molecular function: cellular component: cellular component: biological process: biological process: molecular function: |
BioCarta Pathways:
1: Sprouty regulation of tyrosine kinase signals |
KEGG Pathways:
2: Cell cycle 3: Cell adhesion molecules (CAMs) 6: Natural killer cell mediated cytotoxicity 7: T cell receptor signaling pathway 8: B cell receptor signaling pathway 9: Leukocyte transendothelial migration 11: Adipocytokine signaling pathway 13: Epithelial cell signaling in Helicobacter pylori infection |
| Unique id : H001648_01
Name: Myelin basic protein |
Sum Func: | SP Function: the classic group of mbp isoforms (isoforms 4-14) are with plp the most abundant protein components of the myelin membrane in the cns. they have a role in both its formation and stabilization. the smaller isoforms might have an important role in remyelination of denuded axons in multiple sclerosis. the non- classic group of mbp isoforms (isoforms 1-3/golli-mbps) may preferentially have a role in the early developing brain long before myelination, maybe as components of transcriptional complexes, and may also be involved in signaling pathways in t- cells and neural cells. differential splicing events combined to optional posttranslational modifications give a wide spectrum of isomers, each of them having maybe a specialized function. | Gene Ontology:
biological process: biological process: biological process: molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H000029_01
Name: Mitogen-activated protein kinase kinase kinase 3 |
Sum Func: This gene product is a 626-amino acid polypeptide that is 96.5% identical to mouse Mekk3. Its catalytic domain is closely related to those of several other kinases, including mouse Mekk2, tobacco NPK, and yeast Ste11. Northern blot analysis revealed a 4.6-kb transcript that appears to be ubiquitously expressed. This protein directly regulates the stress-activated protein kinase (SAPK) and extracellular signal-regulated protein kinase (ERK) pathways by activating SEK and MEK1/2 respectively; it does not regulate the p38 pathway. In cotransfection assays, it enhanced transcription from a nuclear factor kappa-B (NFKB)-dependent reporter gene, consistent with a role in the SAPK pathway. Alternatively spliced transcript variants encoding distinct isoforms have been observed. | SP Function: component of a protein kinase signal transduction cascade. mediates activation of the nf-kappa-b, ap1 and ddit3 transcriptional regulators. | Gene Ontology:
molecular function: molecular function: biological process: molecular function: biological process: biological process: molecular function: molecular function: molecular function: molecular function: |
BioCarta Pathways:
1: MAP Kinase Signaling Pathway |
KEGG Pathways:
2: Apoptosis 5: Gap junction 6: Toll-like receptor signaling pathway 7: T cell receptor signaling pathway 9: Epithelial cell signaling in Helicobacter pylori infection |
| Unique id : H002943_01
Name: V-raf murine sarcoma viral oncogene homolog B1 |
Sum Func: | SP Function: involved in the transduction of mitogenic signals from the cell membrane to the nucleus. may play a role in the postsynaptic responses of hippocampal neuron. | Gene Ontology:
molecular function: biological process: biological process: molecular function: biological process: biological process: biological process: molecular function: molecular function: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003309_01
Name: Mitogen-activated protein kinase kinase 7 |
Sum Func: The protein encoded by this gene is a dual specificity protein kinase that belongs to the MAP kinase kinase family. This kinase specifically activates MAPK8/JNK1 and MAPK9/JNK2, and this kinase itself is phosphorylated and activated by MAP kinase kinase kinases including MAP3K1/MEKK1, MAP3K2/MEKK2,MAP3K3/MEKK5, and MAP4K2/GCK. This kinase is involved in the signal transduction mediating the cell responses to proinflammatory cytokines, and environmental stresses. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found, but only one transcript variant has been supported and defined. | SP Function: dual specificity kinase that activates the jun kinases mapk8 (jnk1) and mapk9 (jnk2). | Gene Ontology:
molecular function: molecular function: biological process: molecular function: molecular function: biological process: biological process: molecular function: |
BioCarta Pathways:
1: HIV-I Nef: negative effector of Fas and TNF 2: Fc Epsilon Receptor I Signaling in Mast Cells 3: Keratinocyte Differentiation 4: MAP Kinase Signaling Pathway |
KEGG Pathways:
2: Dorso-ventral axis formation 5: Gap junction 6: Toll-like receptor signaling pathway 7: Natural killer cell mediated cytotoxicity 8: Fc epsilon RI signaling pathway 11: Regulation of actin cytoskeleton 14: Epithelial cell signaling in Helicobacter pylori infection |
| Unique id : H001935_01
Name: Glyceraldehyde-3-phosphate dehydrogenase |
Sum Func: Glyceraldehyde-3-phosphate dehydrogenase catalyzes an important energy-yielding step in carbohydrate metabolism, the reversible oxidative phosphorylation of glyceraldehyde-3-phosphate in the presence of inorganic phosphate and nicotinamide adenine dinucleotide (NAD). The enzyme exists as a tetramer of identical chains. A GAPD pseudogene has been mapped to Xp21-p11 and 15 GAPD-like loci have been identified. | SP Function: | Gene Ontology:
cellular component: biological process: molecular function: biological process: molecular function: |
BioCarta Pathways:
1: Glycolysis Pathway 2: Downregulated of MTA-3 in ER-negative Breast Tumors |
KEGG Pathways: |
| Unique id : H003112_01
Name: Retinoblastoma 1 (including osteosarcoma) |
Sum Func: Retinoblastoma (RB) is an embryonic malignant neoplasm of retinal origin. It almost always presents in early childhood and is often bilateral. Spontaneous regression (‘cure’) occurs in some cases.[supplied by OMIM] | SP Function: probably acts as a regulator of other genes. forms a complex with adenovirus e1a and with sv40 large t antigen. acts as a tumor suppressor. may bind and modulate functionally certain cellular proteins with which t and e1a compete for pocket binding. potent inhibitor of e2f-mediated trans-activation. recruits and targets histone methyltransferase suv39h1 leading to epigenetic transcriptional repression. inhibits the intrinsic kinase activity of taf1. | Gene Ontology:
biological process: cellular component: biological process: biological process: cellular component: cellular component: biological process: biological process: molecular function: |
BioCarta Pathways:
1: HIV-I Nef: negative effector of Fas and TNF 2: Influence of Ras and Rho proteins on G1 to S Transition 3: Tumor Suppressor Arf Inhibits Ribosomal Biogenesis 4: BTG family proteins and cell cycle regulation 5: Cyclins and Cell Cycle Regulation 6: FAS signaling pathway ( CD95 ) 7: Cyclin E Destruction Pathway 8: Cell Cycle: G1/S Check Point 9: Human Cytomegalovirus and Map Kinase Pathways 10: Regulation of p27 Phosphorylation during Cell Cycle Progression 11: p53 Signaling Pathway 12: Regulation of transcriptional activity by PML 13: Mechanism of Gene Regulation by Peroxisome Proliferators via PPARa(alpha) 14: RB Tumor Suppressor/Checkpoint Signaling in response to DNA damage 15: E2F1 Destruction Pathway 16: Telomeres, Telomerase, Cellular Aging, and Immortality 17: Overview of telomerase RNA component gene hTerc Transcriptional Regulation 18: Chaperones modulate interferon Signaling Pathway 19: TNFR1 Signaling Pathway |
KEGG Pathways: |
| Unique id : H002681_01
Name: Cyclin D3 |
Sum Func: The protein encoded by this gene belongs to the highly conserved cyclin family, whose members are characterized by a dramatic periodicity in protein abundance through the cell cycle. Cyclins function as regulators of CDK kinases. Different cyclins exhibit distinct expression and degradation patterns which contribute to the temporal coordination of each mitotic event. This cyclin forms a complex with and functions as a regulatory subunit of CDK4 or CDK6, whose activity is required for cell cycle G1/S transition. This protein has been shown to interact with and be involved in the phosphorylation of tumor suppressor protein Rb. The CDK4 activity associated with this cyclin was reported to be necessary for cell cycle progression through G2 phase into mitosis after UV radiation. | SP Function: essential for the control of the cell cycle at the g1/s (start) transition. | Gene Ontology:
biological process: cellular component: biological process: |
BioCarta Pathways:
1: Cyclins and Cell Cycle Regulation |
KEGG Pathways: |
| Unique id : H002092_01
Name: Ataxia telangiectasia and Rad3 related |
Sum Func: The protein encoded by this gene belongs the PI3/PI4-kinase family, and is most closely related to ATM, a protein kinase encoded by the gene mutated in ataxia telangiectasia. This protein and ATM share similarity with Schizosaccharomyces pombe rad3, a cell cycle checkpoint gene required for cell cycle arrest and DNA damage repair in response to DNA damage. This kinase has been shown to phosphorylate checkpoint kinase CHK1, checkpoint proteins RAD17, and RAD9, as well as tumor suppressor protein BRCA1. Mutations of this gene are associated with Seckel syndrome. An alternatively spliced transcript variant of this gene has been reported, however, its full length nature is not known. Transcript variants utilizing alternative polyA sites exist. | SP Function: cellular role is not yet known. | Gene Ontology:
biological process: biological process: biological process: biological process: molecular function: |
BioCarta Pathways:
1: Role of BRCA1, BRCA2 and ATR in Cancer Susceptibility 2: Cell Cycle: G1/S Check Point 3: Cell Cycle: G2/M Checkpoint 4: Regulation of cell cycle progression by Plk3 |
KEGG Pathways: |
| Unique id : H003739_01
Name: Cell division cycle 2, G1 to S and G2 to M |
Sum Func: The protein encoded by this gene is a member of the Ser/Thr protein kinase family. This protein is a catalytic subunit of the highly conserved protein kinase complex known as M-phase promoting factor (MPF), which is essential for G1/S and G2/M phase transitions of eukaryotic cell cycle. Mitotic cyclins stably associate with this protein and function as regulatory subunits. The kinase activity of this protein is controlled by cyclin accumulation and destruction through the cell cycle. The phosphorylation and dephosphorylation of this protein also play important regulatory roles in cell cycle control. | SP Function: plays a key role in the control of the eukaryotic cell cycle. it is required in higher cells for entry into s-phase and mitosis. p34 is a component of the kinase complex that phosphorylates the repetitive carboxyl-terminus of rna polymerase ii. | Gene Ontology:
molecular function: molecular function: biological process: biological process: cellular component: biological process: molecular function: molecular function: molecular function: biological process: |
BioCarta Pathways:
1: AKAP95 role in mitosis and chromosome dynamics 2: Protein Kinase A at the Centrosome 3: cdc25 and chk1 Regulatory Pathway in response to DNA damage 4: Cyclins and Cell Cycle Regulation 5: Cell Cycle: G1/S Check Point 6: Cell Cycle: G2/M Checkpoint 7: How Progesterone Initiates the Oocyte Maturation 8: Sonic Hedgehog (SHH) Receptor Ptc1 Regulates cell cycle 9: RB Tumor Suppressor/Checkpoint Signaling in response to DNA damage 10: Regulation of Splicing through Sam68 11: Activation of Src by Protein-tyrosine phosphatase alpha 12: Stathmin and breast cancer resistance to antimicrotubule agents |
KEGG Pathways:
1: Cell cycle 4: Gap junction |
| Unique id : H002789_01
Name: Tumor protein p53 (Li-Fraumeni syndrome) |
Sum Func: Tumor protein p53, a nuclear protein, plays an essential role in the regulation of cell cycle, specifically in the transition from G0 to G1. It is found in very low levels in normal cells, however, in a variety of transformed cell lines, it is expressed in high amounts, and believed to contribute to transformation and malignancy. p53 is a DNA-binding protein containing DNA-binding, oligomerization and transcription activation domains. It is postulated to bind as a tetramer to a p53-binding site and activate expression of downstream genes that inhibit growth and/or invasion, and thus function as a tumor suppressor. Mutants of p53 that frequently occur in a number of different human cancers fail to bind the consensus DNA binding site, and hence cause the loss of tumor suppressor activity. Alterations of the TP53 gene occur not only as somatic mutations in human malignancies, but also as germline mutations in some cancer-prone families with Li-Fraumeni syndrome. | SP Function: acts as a tumor suppressor in many tumor types; induces growth arrest or apoptosis depending on the physiological circumstances and cell type. involved in cell cycle regulation as a trans-activator that acts to negatively regulate cell division by controlling a set of genes required for this process. one of the activated genes is an inhibitor of cyclin-dependent kinases. apoptosis induction seems to be mediated either by stimulation of bax and fas antigen expression, or by repression of bcl-2 expression. | Gene Ontology:
molecular function: biological process: biological process: molecular function: biological process: biological process: biological process: biological process: biological process: biological process: biological process: biological process: molecular function: biological process: cellular component: biological process: biological process: biological process: molecular function: cellular component: biological process: molecular function: biological process: biological process: biological process: molecular function: molecular function: |
BioCarta Pathways:
1: Estrogen-responsive protein Efp controls cell cycle and breast tumors growth 2: Tumor Suppressor Arf Inhibits Ribosomal Biogenesis 3: ATM Signaling Pathway 4: Role of BRCA1, BRCA2 and ATR in Cancer Susceptibility 5: BTG family proteins and cell cycle regulation 6: Apoptotic Signaling in Response to DNA Damage 7: CTCF: First Multivalent Nuclear Factor 8: Cell Cycle: G1/S Check Point 9: Cell Cycle: G2/M Checkpoint 10: p53 Signaling Pathway 11: Hypoxia and p53 in the Cardiovascular system 12: Regulation of cell cycle progression by Plk3 13: Regulation of transcriptional activity by PML 14: RB Tumor Suppressor/Checkpoint Signaling in response to DNA damage 15: Double Stranded RNA Induced Gene Expression 16: Telomeres, Telomerase, Cellular Aging, and Immortality 17: Overview of telomerase protein component gene hTert Transcriptional Regulation 18: Chaperones modulate interferon Signaling Pathway |
KEGG Pathways: |
| Unique id : H002149_01
Name: Cyclin-dependent kinase inhibitor 1A (p21, Cip1) |
Sum Func: This gene encodes a potent cyclin-dependent kinase inhibitor. The encoded protein binds to and inhibits the activity of cyclin-CDK2 or -CDK4 complexes, and thus functions as a regulator of cell cycle progression at G1. The expression of this gene is tightly controlled by the tumor suppressor protein p53, through which this protein mediates the p53-dependent cell cycle G1 phase arrest in response to a variety of stress stimuli. This protein can interact with proliferating cell nuclear antigen (PCNA), a DNA polymerase accessory factor, and plays a regulatory role in S phase DNA replication and DNA damage repair. This protein was reported to be specifically cleaved by CASP3-like caspases, which thus leads to a dramatic activation of CDK2, and may be instrumental in the execution of apoptosis following caspase activation. Two alternatively spliced variants, which encode an identical protein, have been reported. | SP Function: may be the important intermediate by which p53 mediates its role as an inhibitor of cellular proliferation in response to dna damage. may bind to and inhibit cyclin-dependent kinase activity, preventing phosphorylation of critical cyclin-dependent kinase substrates and blocking cell cycle progression. | Gene Ontology:
biological process: biological process: molecular function: molecular function: biological process: molecular function: biological process: cellular component: cellular component: molecular function: biological process: |
BioCarta Pathways:
1: Influence of Ras and Rho proteins on G1 to S Transition 2: ATM Signaling Pathway 3: Effects of calcineurin in Keratinocyte Differentiation 4: Cyclins and Cell Cycle Regulation 5: Erythropoietin mediated neuroprotection through NF-kB 6: Cell Cycle: G1/S Check Point 7: Cell Cycle: G2/M Checkpoint 8: p53 Signaling Pathway 9: Hypoxia and p53 in the Cardiovascular system |
KEGG Pathways: |
| Unique id : H002987_01
Name: Cyclin B2 |
Sum Func: Cyclin B2 is a member of the cyclin family, specifically the B-type cyclins. The B-type cyclins, B1 and B2, associate with p34cdc2 and are essential components of the cell cycle regulatory machinery. B1 and B2 differ in their subcellular localization. Cyclin B1 co-localizes with microtubules, whereas cyclin B2 is primarily associated with the Golgi region. Cyclin B2 also binds to transforming growth factor beta RII and thus cyclin B2/cdc2 may play a key role in transforming growth factor beta-mediated cell cycle control. | SP Function: essential for the control of the cell cycle at the g2/m (mitosis) transition. | Gene Ontology:
biological process: biological process: cellular component: biological process: |
BioCarta Pathways:
1: Estrogen-responsive protein Efp controls cell cycle and breast tumors growth |
KEGG Pathways: |
| Unique id : H002323_01
Name: Cyclin E1 |
Sum Func: The protein encoded by this gene belongs to the highly conserved cyclin family, whose members are characterized by a dramatic periodicity in protein abundance through the cell cycle. Cyclins function as regulators of CDK kinases. Different cyclins exhibit distinct expression and degradation patterns which contribute to the temporal coordination of each mitotic event. This cyclin forms a complex with and functions as a regulatory subunit of CDK2, whose activity is required for cell cycle G1/S transition. This protein accumulates at the G1-S phase boundary and is degraded as cells progress through S phase. Overexpression of this gene has been observed in many tumors, which results in chromosome instability, and thus may contribute to tumorigenesis. This protein was found to associate with, and be involved in, the phosphorylation of NPAT protein (nuclear protein mapped to the ATM locus), which participates in cell-cycle regulated histone gene expression and plays a critical role in promoting cell-cycle progression in the absence of pRB. Two alternatively spliced transcript variants of this gene, which encode distinct isoforms, have been described. Two additional splice variants were reported but detailed nucleotide sequence information is not yet available. | SP Function: essential for the control of the cell cycle at the g1/s (start) transition. | Gene Ontology:
biological process: biological process: cellular component: cellular component: biological process: |
BioCarta Pathways:
1: Influence of Ras and Rho proteins on G1 to S Transition 2: Cyclins and Cell Cycle Regulation 3: Cyclin E Destruction Pathway 4: Cell Cycle: G1/S Check Point 5: CDK Regulation of DNA Replication 6: Regulation of p27 Phosphorylation during Cell Cycle Progression 7: p53 Signaling Pathway 8: E2F1 Destruction Pathway |
KEGG Pathways: |
| Unique id : H002760_01
Name: RAD51 homolog (RecA homolog, E. coli) (S. cerevisiae) |
Sum Func: The protein encoded by this gene is a member of the RAD51 protein family. RAD51 family members are highly similar to bacterial RecA and Saccharomyces cerevisiae Rad51, and are known to be involved in the homologous recombination and repair of DNA. This protein can interact with the ssDNA-binding protein RPA and RAD52, and it is thought to play roles in homologous pairing and strand transfer of DNA. This protein is also found to interact with BRCA1 and BRCA2, which may be important for the cellular response to DNA damage. BRCA2 is shown to regulate both the intracellular localization and DNA-binding ability of this protein. Loss of these controls following BRCA2 inactivation may be a key event leading to genomic instability and tumorigenesis. Two alternatively spliced transcript variants of this gene, which encode distinct proteins, have been reported. Transcript variants utilizing alternative polyA signals exist. | SP Function: may participate in a common dna damage response pathway associated with the activation of homologous recombination and double-strand break repair. binds to single and double stranded dna and exhibits dna-dependent atpase activity. underwinds duplex dna and forms helical nucleoprotein filaments. | Gene Ontology:
molecular function: biological process: biological process: biological process: molecular function: biological process: molecular function: biological process: biological process: biological process: cellular component: biological process: molecular function: biological process: molecular function: molecular function: cellular component: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003605_01
Name: BCL2-associated X protein |
Sum Func: The protein encoded by this gene belongs to the BCL2 protein family. BCL2 family members form hetero- or homodimers and act as anti- or pro-apoptotic regulators that are involved in a wide variety of cellular activities. This protein forms a heterodimer with BCL2, and functions as an apoptotic activator. This protein is reported to interact with, and increase the opening of, the mitochondrial voltage-dependent anion channel (VDAC), which leads to the loss in membrane potential and the release of cytochrome c. The expression of this gene is regulated by the tumor suppressor P53 and has been shown to be involved in P53-mediated apoptosis. Six alternatively spliced transcript variants, which encode different isoforms, have been reported for this gene. | SP Function: accelerates programmed cell death by binding to, and antagonizing the apoptosis repressor bcl2 or its adenovirus homolog e1b 19k protein. induces the release of cytochrome c, activation of casp3, and thereby apoptosis. | Gene Ontology:
biological process: biological process: biological process: biological process: biological process: cellular component: molecular function: biological process: biological process: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003644_01
Name: Tumor necrosis factor receptor superfamily, member 6 |
Sum Func: The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor contains a death domain. It has been shown to play a central role in the physiological regulation of programmed cell death, and has been implicated in the pathogenesis of various malignancies and diseases of the immune system. The interaction of this receptor with its ligand allows the formation of a death-inducing signaling complex that includes Fas-associated death domain protein (FADD), caspase 8, and caspase 10. The autoproteolytic processing of the caspases in the complex triggers a downstream caspase cascade, and leads to apoptosis. This receptor has been also shown to activate NF-kappaB, MAPK3/ERK1, and MAPK8/JNK, and is found to be involved in transducing the proliferating signals in normal diploid fibroblast and T cells. At least eight alternatively spliced transcript variants encoding seven distinct isoforms have been described. The isoforms lacking the transmembrane domain may negatively regulate the apoptosis mediated by the full length isoform. | SP Function: receptor for tnfsf6/fasl. the adapter molecule fadd recruits caspase-8 to the activated receptor. the resulting death- inducing signaling complex (disc) performs caspase-8 proteolytic activation which initiates the subsequent cascade of caspases (aspartate-specific cysteine proteases) mediating apoptosis. fas- mediated apoptosis may have a role in the induction of peripheral tolerance, in the antigen-stimulated suicide of mature t-cells, or both. the secreted isoforms 2 to 6 block apoptosis (in vitro). | Gene Ontology:
biological process: biological process: cellular component: biological process: biological process: cellular component: cellular component: molecular function: biological process: biological process: biological process: biological process: cellular component: molecular function: |
BioCarta Pathways:
1: HIV-I Nef: negative effector of Fas and TNF 2: Antigen Dependent B Cell Activation 3: Bystander B Cell Activation 4: CTL mediated immune response against target cells 5: FAS signaling pathway ( CD95 ) 6: Stress Induction of HSP Regulation 7: IL-2 Receptor Beta Chain in T cell Activation 8: Keratinocyte Differentiation 9: Regulation of transcriptional activity by PML 10: HIV Induced T Cell Apoptosis |
KEGG Pathways: |
| Unique id : H003538_01
Name: Actin, beta |
Sum Func: Beta actin is one of six different actin isoforms which have been identified. ACTB is one of the two nonmuscle cytoskeletal actins. Actins are highly conserved proteins that are involved in cell motility, structure and integrity. Alpha actins are a major constituent of the contractile apparatus. | SP Function: | Gene Ontology:
cellular component: molecular function: molecular function: |
BioCarta Pathways:
1: Chromatin Remodeling by hSWI/SNF ATP-dependent Complexes |
KEGG Pathways: |
| Unique id : H003542_01
Name: V-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian) |
Sum Func: This gene encodes a member of the epidermal growth factor (EGF) receptor family of receptor tyrosine kinases. This protein has no ligand binding domain of its own and therefore cannot bind growth factors. However, it does bind tightly to other ligand-bound EGF receptor family members to form a heterodimer, stabilizing ligand binding and enhancing kinase-mediated activation of downstream signalling pathways, such as those involving mitogen-activated protein kinase and phosphatidylinositol-3 kinase. Allelic variations at amino acid positions 654 and 655 of isoform a (positions 624 and 625 of isoform b) have been reported, with the most common allele, Ile654/Ile655, shown here. Amplification and/or overexpression of this gene has been reported in numerous cancers, including breast and ovarian tumors. Alternative splicing results in several additional transcript variants, some encoding different isoforms and others that have not been fully characterized. | SP Function: essential component of a neuregulin-receptor complex, althought neuregulins do not interact with it alone. gp30 is a potential ligand for this receptor. not activated by egf, tgf- alpha and amphiregulin. | Gene Ontology:
molecular function: molecular function: biological process: molecular function: cellular component: cellular component: cellular component: molecular function: biological process: biological process: molecular function: molecular function: molecular function: biological process: biological process: |
BioCarta Pathways:
1: Role of ERBB2 in Signal Transduction and Oncology 2: Trefoil Factors Initiate Mucosal Healing |
KEGG Pathways:
3: Cytokine-cytokine receptor interaction 4: Apoptosis 5: Dorso-ventral axis formation 10: Gap junction 11: Hematopoietic cell lineage 13: Regulation of actin cytoskeleton 17: Dentatorubropallidoluysian atrophy (DRPLA) 18: Epithelial cell signaling in Helicobacter pylori infection |
| Unique id : H006841_01
Name: BCL2-associated X protein |
Sum Func: The protein encoded by this gene belongs to the BCL2 protein family. BCL2 family members form hetero- or homodimers and act as anti- or pro-apoptotic regulators that are involved in a wide variety of cellular activities. This protein forms a heterodimer with BCL2, and functions as an apoptotic activator. This protein is reported to interact with, and increase the opening of, the mitochondrial voltage-dependent anion channel (VDAC), which leads to the loss in membrane potential and the release of cytochrome c. The expression of this gene is regulated by the tumor suppressor P53 and has been shown to be involved in P53-mediated apoptosis. Six alternatively spliced transcript variants, which encode different isoforms, have been reported for this gene. | SP Function: accelerates programmed cell death by binding to, and antagonizing the apoptosis repressor bcl2 or its adenovirus homolog e1b 19k protein. induces the release of cytochrome c, activation of casp3, and thereby apoptosis. | Gene Ontology:
biological process: biological process: biological process: biological process: biological process: cellular component: molecular function: biological process: biological process: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003766_01
Name: Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) |
Sum Func: This gene is a target gene of the transcription factor tumor protein p53. The encoded protein is a nuclear phosphoprotein that binds and inhibits transactivation by tumor protein p53, as part of an autoregulatory negative feedback loop. Overexpression of this gene can result in excessive inactivation of tumor protein p53, diminishing its tumor suppressor function. This protein has E3 ubiquitin ligase activity, which targets tumor protein p53 for proteasomal degradation. This protein also affects the cell cycle, apoptosis, and tumorigenesis through interactions with other proteins, including retinoblastoma 1 and ribosomal protein L5. More than 40 different alternatively spliced transcript variants have been isolated from both tumor and normal tissues. | SP Function: inhibits p53- and p73-mediated cell cycle arrest and apoptosis by binding its transcriptional activation domain. functions as a ubiquitin ligase e3, in the presence of e1 and e2, toward p53 and itself. permits the nuclear export of p53 and targets it for proteasome-mediated proteolysis. | Gene Ontology:
biological process: molecular function: biological process: biological process: biological process: molecular function: molecular function: cellular component: cellular component: cellular component: cellular component: cellular component: molecular function: molecular function: biological process: biological process: biological process: biological process: biological process: cellular component: molecular function: molecular function: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003816_01
Name: Caspase 1, apoptosis-related cysteine protease (interleukin 1, beta, convertase) |
Sum Func: This gene encodes a protein which is a member of the cysteine-aspartic acid protease (caspase) family. Sequential activation of caspases plays a central role in the execution-phase of cell apoptosis. Caspases exist as inactive proenzymes which undergo proteolytic processing at conserved aspartic residues to produce 2 subunits, large and small, that dimerize to form the active enzyme. This gene was identified by its ability to proteolytically cleave and activate the inactive precursor of interlukin-1, a cytokine involved in the processes such as inflammation, septic shock, and wound healing. This gene has been shown to induce cell apoptosis and may function in various developmental stages. Studies of the similar gene in mouse suggested its role in the pathogenesis of Huntington disease. Alternative splicing of this gene results in five transcript variants encoding distinct isoforms. | SP Function: thiol protease that cleaves il-1 beta between an asp and an ala, releasing the mature cytokine which is involved in a variety of inflammatory processes. specifically inhibited by the cowpox virus crma protein. | Gene Ontology:
molecular function: molecular function: molecular function: molecular function: cellular component: biological process: molecular function: biological process: biological process: molecular function: biological process: |
BioCarta Pathways:
1: Caspase Cascade in Apoptosis 2: D4-GDI Signaling Pathway 3: IL 18 Signaling Pathway |
KEGG Pathways: |
| Unique id : H003027_01
Name: Cyclin D2 |
Sum Func: The protein encoded by this gene belongs to the highly conserved cyclin family, whose members are characterized by a dramatic periodicity in protein abundance through the cell cycle. Cyclins function as regulators of CDK kinases. Different cyclins exhibit distinct expression and degradation patterns which contribute to the temporal coordination of each mitotic event. This cyclin forms a complex with and functions as a regulatory subunit of CDK4 or CDK6, whose activity is required for cell cycle G1/S transition. This protein has been shown to interact with and be involved in the phosphorylation of tumor suppressor protein Rb. Knockout studies of the homologous gene in mouse suggest the essential roles of this gene in ovarian granulosa and germ cell proliferation. High level expression of this gene was observed in ovarian and testicular tumors. | SP Function: essential for the control of the cell cycle at the g1/s (start) transition. | Gene Ontology:
biological process: cellular component: biological process: |
BioCarta Pathways:
1: Cyclins and Cell Cycle Regulation |
KEGG Pathways: |
| Unique id : H002412_01
Name: Cyclin-dependent kinase 2 |
Sum Func: The protein encoded by this gene is a member of the Ser/Thr protein kinase family. This protein kinase is highly similar to the gene products of S. cerevisiae cdc28, and S. pombe cdc2. It is a catalytic subunit of the cyclin-dependent protein kinase complex, whose activity is restricted to the G1-S phase, and essential for cell cycle G1/S phase transition. This protein associates with and regulated by the regulatory subunits of the complex including cyclin A or E, CDK inhibitor p21Cip1 (CDKN1A) and p27Kip1 (CDKN1B). Its activity is also regulated by its protein phosphorylation. Two alternatively spliced variants and multiple transcription initiation sites of this gene have been reported. | SP Function: probably involved in the control of the cell cycle. interacts with cyclins a, b3, d, or e. activity of cdk2 is maximal during s phase and g2. | Gene Ontology:
molecular function: biological process: biological process: molecular function: biological process: cellular component: biological process: cellular component: biological process: biological process: molecular function: biological process: molecular function: biological process: |
BioCarta Pathways:
1: Influence of Ras and Rho proteins on G1 to S Transition 2: Cyclins and Cell Cycle Regulation 3: Cyclin E Destruction Pathway 4: Cell Cycle: G1/S Check Point 5: CDK Regulation of DNA Replication 6: Regulation of p27 Phosphorylation during Cell Cycle Progression 7: p53 Signaling Pathway 8: RB Tumor Suppressor/Checkpoint Signaling in response to DNA damage 9: E2F1 Destruction Pathway |
KEGG Pathways:
1: Cell cycle 4: Gap junction |
| Unique id : H000136_01
Name: Cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4) |
Sum Func: The protein encoded by this gene is a member of the INK4 family of cyclin-dependent kinase inhibitors. This protein has been shown to interact with CDK4 or CDK6, and prevent the activation of the CDK kinases, thus function as a cell growth regulator that controls cell cycle G1 progression. Ectopic expression of this gene was shown to suppress the growth of human cells in a manner that appears to correlate with the presence of a wild-type RB1 function. Studies in the knockout mice suggested the roles of this gene in regulating spermatogenesis, as well as in suppressing tumorigenesis. Two alternatively spliced transcript variants of this gene, which encode an identical protein, have been reported. | SP Function: interacts strongly with cdk6, weakly with cdk4. inhibits cell growth and proliferation with a correlated dependence on endogenous retinoblastoma protein rb. | Gene Ontology:
biological process: biological process: molecular function: cellular component: biological process: cellular component: |
BioCarta Pathways:
1: Cyclins and Cell Cycle Regulation |
KEGG Pathways: |
| Unique id : H005436_01
Name: Cyclin-dependent kinase 6 |
Sum Func: The protein encoded by this gene is a member of the cyclin-dependent protein kinase (CDK) family. CDK family members are highly similar to the gene products of Saccharomyces cerevisiae cdc28, and Schizosaccharomyces pombe cdc2, and are known to be important regulators of cell cycle progression. This kinase is a catalytic subunit of the protein kinase complex that is important for cell cycle G1 phase progression and G1/S transition. The activity of this kinase first appears in mid-G1 phase, which is controlled by the regulatory subunits including D-type cyclins and members of INK4 family of CDK inhibitors. This kinase, as well as CDK4, has been shown to phosphorylate, and thus regulate the activity of, tumor suppressor protein Rb. | SP Function: probably involved in the control of the cell cycle. interacts with d-type g1 cyclins. | Gene Ontology:
molecular function: biological process: biological process: biological process: molecular function: biological process: molecular function: |
BioCarta Pathways:
1: Estrogen-responsive protein Efp controls cell cycle and breast tumors growth 2: Influence of Ras and Rho proteins on G1 to S Transition 3: Cyclins and Cell Cycle Regulation 4: Cell Cycle: G1/S Check Point |
KEGG Pathways:
1: Cell cycle 4: Gap junction |
| Unique id : H003410_01
Name: Cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4) |
Sum Func: This gene generates several transcript variants which differ in their first exons. At least three alternatively spliced variants encoding distinct proteins have been reported, two of which encode structurally related isoforms known to function as inhibitors of CDK4 kinase. The remaining transcript includes an alternate first exon located 20 Kb upstream of the remainder of the gene; this transcript contains an alternate open reading frame (ARF) that specifies a protein which is structurally unrelated to the products of the other variants. This ARF product functions as a stabilizer of the tumor suppressor protein p53 as it can interact with, and sequester, MDM1, a protein responsible for the degradation of p53. In spite of the structural and functional differences, the CDK inhibitor isoforms and the ARF product encoded by this gene, through the regulatory roles of CDK4 and p53 in cell cycle G1 progression, share a common functionality in cell cycle G1 control. This gene is frequently mutated or deleted in a wide variety of tumors, and is known to be an important tumor suppressor gene. | SP Function: interacts strongly with cdk4 and cdk6. inhibits their ability to interact with cyclins d. could act as a negative regulator of the proliferation of normal cells. | Gene Ontology:
biological process: biological process: biological process: biological process: molecular function: molecular function: biological process: biological process: cellular component: biological process: |
BioCarta Pathways:
1: Tumor Suppressor Arf Inhibits Ribosomal Biogenesis 2: Cyclins and Cell Cycle Regulation 3: CTCF: First Multivalent Nuclear Factor 4: Cell Cycle: G1/S Check Point |
KEGG Pathways: |
| Unique id : H003759_01
Name: Cyclin-dependent kinase inhibitor 2D (p19, inhibits CDK4) |
Sum Func: The protein encoded by this gene is a member of the INK4 family of cyclin-dependent kinase inhibitors. This protein has been shown to form a stable complex with CDK4 or CDK6, and prevent the activation of the CDK kinases, thus function as a cell growth regulator that controls cell cycle G1 progression. The abundance of the transcript of this gene was found to oscillate in a cell-cycle dependent manner with the lowest expression at mid G1 and a maximal expression during S phase. The negative regulation of the cell cycle involved in this protein was shown to participate in repressing neuronal proliferation, as well as spermatogenesis. Two alternatively spliced variants of this gene, which encode an identical protein, have been reported. | SP Function: interacts strongly with cdk4 and cdk6. | Gene Ontology:
biological process: biological process: molecular function: cellular component: biological process: biological process: cellular component: biological process: |
BioCarta Pathways:
1: Cyclins and Cell Cycle Regulation 2: Cell Cycle: G2/M Checkpoint |
KEGG Pathways: |
| Unique id : H002371_01
Name: Cyclin B1 |
Sum Func: The protein encoded by this gene is a regulatory protein involved in mitosis. The gene product complexes with p34(cdc2) to form the maturation-promoting factor (MPF). Two alternative transcripts have been found, a constitutively expressed transcript and a cell cycle-regulated transcript, that is expressed predominantly during G2/M phase. The different transcripts result from the use of alternate transcription initiation sites. | SP Function: essential for the control of the cell cycle at the g2/m (mitosis) transition. | Gene Ontology:
biological process: biological process: biological process: cellular component: biological process: |
BioCarta Pathways:
1: AKAP95 role in mitosis and chromosome dynamics 2: Cyclins and Cell Cycle Regulation 3: Cell Cycle: G2/M Checkpoint 4: How Progesterone Initiates the Oocyte Maturation 5: Sonic Hedgehog (SHH) Receptor Ptc1 Regulates cell cycle 6: Activation of Src by Protein-tyrosine phosphatase alpha 7: Stathmin and breast cancer resistance to antimicrotubule agents |
KEGG Pathways: |
| Unique id : H001999_01
Name: Cyclin D1 (PRAD1: parathyroid adenomatosis 1) |
Sum Func: The protein encoded by this gene belongs to the highly conserved cyclin family, whose members are characterized by a dramatic periodicity in protein abundance throughout the cell cycle. Cyclins function as regulators of CDK kinases. Different cyclins exhibit distinct expression and degradation patterns which contribute to the temporal coordination of each mitotic event. This cyclin forms a complex with and functions as a regulatory subunit of CDK4 or CDK6, whose activity is required for cell cycle G1/S transition. This protein has been shown to interact with tumor suppressor protein Rb and the expression of this gene is regulated positively by Rb. Mutations, amplification and overexpression of this gene, which alters cell cycle progression, are observed frequently in a variety of tumors and may contribute to tumorigenesis. | SP Function: essential for the control of the cell cycle at the g1/s (start) transition. | Gene Ontology:
biological process: biological process: biological process: cellular component: biological process: |
BioCarta Pathways:
1: Influence of Ras and Rho proteins on G1 to S Transition 2: BTG family proteins and cell cycle regulation 3: CARM1 and Regulation of the Estrogen Receptor 4: Cyclins and Cell Cycle Regulation 5: Cell Cycle: G1/S Check Point 6: Inactivation of Gsk3 by AKT causes accumulation of b-catenin in Alveolar Macrophages 7: p53 Signaling Pathway 8: WNT Signaling Pathway |
KEGG Pathways: |
| Unique id : H003750_01
Name: Cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4) |
Sum Func: This gene lies adjacent to the tumor suppressor gene CDKN2A in a region that is frequently mutated and deleted in a wide variety of tumors. This gene encodes a cyclin-dependent kinase inhibitor, which forms a complex with CDK4 or CDK6, and prevents the activation of the CDK kinases, thus the encoded protein functions as a cell growth regulator that controls cell cycle G1 progression. The expression of this gene was found to be dramatically induced by TGF beta, which suggested its role in the TGF beta induced growth inhibition. Two alternatively spliced transcript variants of this gene, which encode distinct proteins, have been reported. | SP Function: interacts strongly with cdk4 and cdk6. potent inhibitor. potential effector of tgf-beta induced cell cycle arrest. | Gene Ontology:
biological process: biological process: molecular function: molecular function: cellular component: biological process: biological process: cellular component: biological process: |
BioCarta Pathways:
1: Cyclins and Cell Cycle Regulation 2: Cell Cycle: G1/S Check Point |
KEGG Pathways: |
| Unique id : H000126_01
Name: Retinoblastoma-like 1 (p107) |
Sum Func: The protein encoded by this gene is similar in sequence and possibly function to the product of the retinoblastoma 1 (RB1) gene. The RB1 gene product is a tumor suppressor protein that appears to be involved in cell cycle regulation, as it is phosphorylated in the S to M phase transition and is dephosphorylated in the G1 phase of the cell cycle. Both the RB1 protein and the product of this gene can form a complex with adenovirus E1A protein and SV40 large T-antigen, with the SV40 large T-antigen binding only to the unphosphorylated form of each protein. In addition, both proteins can inhibit the transcription of cell cycle genes containing E2F binding sites in their promoters. Due to the sequence and biochemical similarities with the RB1 protein, it is thought that the protein encoded by this gene may also be a tumor suppressor. Two transcript variants encoding different isoforms have been found for this gene. | SP Function: may have a function in cell cycle regulation. forms a complex with adenovirus e1a and with sv40 large t antigen. may bind and modulate functionally certain cellular proteins with which t and e1a compete for pocket binding. may act as a tumor suppressor. potent inhibitor of e2f-mediated trans-activation. | Gene Ontology:
biological process: cellular component: biological process: |
BioCarta Pathways:
1: Cyclins and Cell Cycle Regulation 2: METS affect on Macrophage Differentiation |
KEGG Pathways: |
| Unique id : H003162_01
Name: Transcription factor Dp-1 |
Sum Func: The E2F transcription factor family (see MIM 189971) regulates the expression of various cellular promoters, particularly those involved in the cell cycle. E2F factors bind to DNA as homodimers or heterodimers in association with dimerization partner DP1. TFDP1 may be the first example of a family of related transcription factors; see TFDP2 (MIM 602160).[supplied by OMIM] | SP Function: can stimulate e2f-dependent transcription. binds dna cooperatively with e2f family members through the e2 recognition site, 5′-tttc[cg]cgc-3′, found in the promoter region of a number of genes whose products are involved in cell cycle regulation or in dna replication. the dp2/e2f complex functions in the control of cell-cycle progression from g1 to s phase. the e2f-1/dp complex appears to mediate both cell proliferation and apoptosis. | Gene Ontology:
cellular component: biological process: biological process: molecular function: molecular function: cellular component: |
BioCarta Pathways:
1: Influence of Ras and Rho proteins on G1 to S Transition 2: Cyclins and Cell Cycle Regulation 3: Cyclin E Destruction Pathway 4: Cell Cycle: G1/S Check Point 5: Regulation of p27 Phosphorylation during Cell Cycle Progression 6: E2F1 Destruction Pathway |
KEGG Pathways: |
| Unique id : H002606_01
Name: Cyclin-dependent kinase 7 (MO15 homolog, Xenopus laevis, cdk-activating kinase) |
Sum Func: The protein encoded by this gene is a member of the cyclin-dependent protein kinase (CDK) family. CDK family members are highly similar to the gene products of Saccharomyces cerevisiae cdc28, and Schizosaccharomyces pombe cdc2, and are known to be important regulators of cell cycle progression. This protein forms a trimeric complex with cyclin H and MAT1, which functions as a Cdk-activating kinase (CAK). It is an essential component of the transcription factor TFIIH, that is involved in transcription initiation and DNA repair. This protein is thought to serve as a direct link between the regulation of transcription and the cell cycle. | SP Function: cyclin-dependent kinases (cdks) are activated by the binding to a cyclin and mediate the progression through the cell cycle. each different complex controls a specific transition between two subsequent phases in the cell cycle. cdk7 is the catalytic subunit of the cdk-activating kinase (cak) complex, a serine-threonine kinase. cak activates the cyclin-associated kinases cdc2/cdk1, cdk2, cdk4 and cdk6 by threonine phosphorylation. cak complexed to the core-tfiih basal transcription factor activates rna polymerase ii by serine phosphorylation of the repetitive carboxyl-terminus domain (ctd) of its large subunit (polr2a), allowing its escape from the promoter and elongation of the transcripts. involved in cell cycle control and in rna transcription by rna polymerase ii. its expression and activity are constant throughout the cell cycle. | Gene Ontology:
molecular function: biological process: molecular function: biological process: cellular component: biological process: biological process: biological process: biological process: molecular function: |
BioCarta Pathways:
1: Cyclins and Cell Cycle Regulation 2: Degradation of the RAR and RXR by the proteasome |
KEGG Pathways:
1: Cell cycle 4: Gap junction |
| Unique id : H003124_01
Name: Fc fragment of IgG, receptor, transporter, alpha |
Sum Func: | SP Function: binds to the fc region of monomeric immunoglobulins gamma. mediates the uptake of igg from milk. possible role in transfer of immunoglobulin g from mother to fetus. | Gene Ontology:
molecular function: biological process: cellular component: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H000825_01
Name: S100 calcium binding protein A8 (calgranulin A) |
Sum Func: The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of cells, and involved in the regulation of a number of cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21. This protein may function in the inhibition of casein kinase and as a cytokine. Altered expression of this protein is associated with the disease cystic fibrosis. | SP Function: expressed by macrophages in chronic inflammations. also expressed in epithelial cells constitutively or induced during dermatoses. may interact with components of the intermediate filaments in monocytes and epithelial cells. | Gene Ontology:
molecular function: cellular component: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002406_01
Name: Jun B proto-oncogene |
Sum Func: | SP Function: transcription factor involved in regulating gene activity following the primary growth factor response. binds to the dna sequence 5′-tga[cg]tca-3′. | Gene Ontology:
molecular function: cellular component: cellular component: biological process: molecular function: molecular function: molecular function: |
BioCarta Pathways:
1: GATA3 participate in activating the Th2 cytokine genes expression |
KEGG Pathways: |
| Unique id : H002878_01
Name: V-yes-1 Yamaguchi sarcoma viral related oncogene homolog |
Sum Func: | SP Function: | Gene Ontology:
molecular function: biological process: biological process: biological process: molecular function: molecular function: |
BioCarta Pathways:
1: BCR Signaling Pathway 2: Eph Kinases and ephrins support platelet aggregation 3: Fc Epsilon Receptor I Signaling in Mast Cells 4: Phosphoinositides and their downstream targets. |
KEGG Pathways:
2: Cell cycle 8: Gap junction 10: Natural killer cell mediated cytotoxicity 11: T cell receptor signaling pathway 12: B cell receptor signaling pathway 13: Fc epsilon RI signaling pathway 14: Leukocyte transendothelial migration 16: Regulation of actin cytoskeleton 18: Adipocytokine signaling pathway 19: Epithelial cell signaling in Helicobacter pylori infection |
| Unique id : H000316_01
Name: Delta sleep inducing peptide, immunoreactor |
Sum Func: The protein encoded by this gene shares significant sequence identity with the murine TSC-22 and Drosophila shs, both of which are leucine zipper proteins, that function as transcriptional regulators. The expression of this gene is stimulated by glucocorticoids and interleukin 10, and it appears to play a key role in the anti-inflammatory and immunosuppressive effects of this steroid and chemokine. Transcript variants encoding different isoforms have been identified for this gene. | SP Function: potential coactivator of a transcription factor. | Gene Ontology:
cellular component: biological process: biological process: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H006355_01
Name: Oxysterol binding protein-like 8 |
Sum Func: This gene encodes a member of the oxysterol-binding protein (OSBP) family, a group of intracellular lipid receptors. Like most members, the encoded protein contains an N-terminal pleckstrin homology domain and a highly conserved C-terminal OSBP-like sterol-binding domain. Two transcript variants encoding different isoforms have been found for this gene. | SP Function: | Gene Ontology:
biological process: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H000199_01
Name: Translocated promoter region (to activated MET oncogene) |
Sum Func: | SP Function: component of the cytoplasmic fibrils of the nuclear pore complex implicated in nuclear protein import. its amino terminus is involved in activation of oncogenic kinases. | Gene Ontology:
cellular component: cellular component: cellular component: biological process: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H001971_01
Name: Retinoblastoma binding protein 6 |
Sum Func: The retinoblastoma tumor suppressor (pRB) protein binds with many other proteins. In various human cancers, pRB suppresses cellular proliferation and is inactivated. Cell cycle-dependent phosphorylation regulates the activity of pRB. This gene encodes a protein which binds to underphosphorylated but not phosphorylated pRB. Multiple alternatively spliced transcript variants that encode different isoforms have been found for this gene. | SP Function: | Gene Ontology:
molecular function: molecular function: biological process: biological process: cellular component: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H006255_01
Name: Syndecan binding protein (syntenin) |
Sum Func: The protein encoded by this gene was initially identified as a molecule linking syndecan-mediated signaling to the cytoskeleton. The syntenin protein contains tandemly repeated PDZ domains that bind the cytoplasmic, C-terminal domains of a variety of transmembrane proteins. This protein may also affect cytoskeletal-membrane organization, cell adhesion, protein trafficking, and the activation of transcription factors. The protein is primarily localized to membrane-associated adherens junctions and focal adhesions but is also found at the endoplasmic reticulum and nucleus. Alternative splicing results in multiple transcript variants encoding different isoforms. | SP Function: seems to function as an adapter protein. in adherens junctions may function to couple syndecans to cytoskeletal proteins or signaling components. seems to couple transcription factor sox4 to the il-5 receptor (il5ra). may also play a role in vesicular trafficking. seems to be required for the targeting of tgfa to the cell surface in the early secretory pathway. | Gene Ontology:
biological process: cellular component: molecular function: cellular component: cellular component: molecular function: cellular component: biological process: cellular component: molecular function: cellular component: biological process: biological process: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002168_01
Name: GATA binding protein 2 |
Sum Func: The GATA family of transcription factors, which contain zinc fingers in their DNA binding domain, have emerged as candidate regulators of gene expression in hematopoietic cells (Tsai et al., 1994 [PubMed 8078582]). GATA1 (MIM 305371) is essential for normal primitive and definitive erythropoiesis and is expressed at high levels in erythroid cells, mast cells, and megakaryocytes. GATA2 is expressed in hematopoietic progenitors, including early erythroid cells, mast cells, and megakaryocytes, and also in nonhematopoietic embryonic stem cells. In chicken erythroid progenitors, forced expression of GATA2 promotes proliferation at the expense of differentiation (Briegel et al., 1993 [PubMed 8504932]). GATA3 (MIM 131320) expression is restricted to T-lymphoid cells and some nonhematopoietic cell types, including embryonic stem cells.[supplied by OMIM] | SP Function: transcriptional activator which regulates endothelin-1 gene expression in endothelial cells. binds to the consensus sequence 5′-agatag-3′. | Gene Ontology:
biological process: cellular component: cellular component: biological process: molecular function: molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H004936_01
Name: WD repeat and SOCS box-containing 1 |
Sum Func: This gene encodes a member of the WD-protein subfamily. This protein shares a high sequence identity to mouse and chick proteins. It contains several WD-repeats spanning most of the protein and an SOCS box in the C-terminus. The function of this protein has not been determined. Alternative splicing of this gene generates 3 transcript variants. | SP Function: | Gene Ontology:
cellular component: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H007504_01
Name: Hemoglobin, epsilon 1 |
Sum Func: The epsilon globin gene (HBE) is normally expressed in the embryonic yolk sac: two epsilon chains together with two zeta chains (an alpha-like globin) constitute the embryonic hemoglobin Hb Gower I; two epsilon chains together with two alpha chains form the embryonic Hb Gower II. Both of these embryonic hemoglobins are normally supplanted by fetal, and later, adult hemoglobin. The five beta-like globin genes are found within a 45 kb cluster on chromosome 11 in the following order: 5′-epsilon – G-gamma – A-gamma – delta – beta-3′ | SP Function: the epsilon chain is a beta-type chain of early mammalian embryonic hemoglobin. | Gene Ontology:
cellular component: biological process: molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002091_01
Name: V-myc myelocytomatosis viral oncogene homolog (avian) |
Sum Func: | SP Function: participates in the regulation of gene transcription. binds dna in a non-specific manner, yet also specifically recognizes the core sequence cac[ga]tg. seems to activate the transcription of growth-related genes. | Gene Ontology:
biological process: biological process: biological process: cellular component: molecular function: biological process: molecular function: |
BioCarta Pathways:
1: Tumor Suppressor Arf Inhibits Ribosomal Biogenesis 2: Role of EGF Receptor Transactivation by GPCRs in Cardiac Hypertrophy 3: Cadmium induces DNA synthesis and proliferation in macrophages 4: CTCF: First Multivalent Nuclear Factor 5: Erk1/Erk2 Mapk Signaling pathway 6: Inhibition of Cellular Proliferation by Gleevec 7: IL-2 Receptor Beta Chain in T cell Activation 8: MAP Kinase Signaling Pathway 9: p38 MAPK Signaling Pathway 10: Mechanism of Gene Regulation by Peroxisome Proliferators via PPARa(alpha) 11: Telomeres, Telomerase, Cellular Aging, and Immortality 12: Overview of telomerase protein component gene hTert Transcriptional Regulation 13: Neuropeptides VIP and PACAP inhibit the apoptosis of activated T cells 14: WNT Signaling Pathway |
KEGG Pathways: |
| Unique id : H001023_01
Name: Mannosidase, alpha, class 2A, member 2 |
Sum Func: | SP Function: catalyzes the first committed step in the biosynthesis of complex n-glycans. it controls conversion of high mannose to complex n-glycans; the final hydrolytic step in the n-glycan maturation pathway. | Gene Ontology:
cellular component: molecular function: biological process: molecular function: cellular component: molecular function: |
BioCarta Pathways:
1: Steps in the Glycosylation of Mammalian N-linked Oligosaccarides 2: ER–associated degradation (ERAD) Pathway |
KEGG Pathways: |
| Unique id : H003255_01
Name: CDC37 cell division cycle 37 homolog (S. cerevisiae) |
Sum Func: The protein encoded by this gene is highly similar to Cdc 37, a cell division cycle control protein of Saccharomyces cerevisiae. This protein is a molecular chaperone with specific function in cell signal transduction. It has been shown to form complex with Hsp90 and a variety of protein kinases including CDK4, CDK6, SRC, RAF-1, MOK, as well as eIF2 alpha kinases. It is thought to play a critical role in directing Hsp90 to its target kinases. | SP Function: co-chaperone that binds to numerous kinases and promotes their interaction with the hsp90 complex, resulting in stabilization and promotion of their activity. | Gene Ontology:
biological process: biological process: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H000068_01
Name: Signal recognition particle 72kDa |
Sum Func: | SP Function: signal-recognition-particle assembly has a crucial role in targeting secretory proteins to the rough endoplasmic reticulum membrane. srp72 binds the 7s rna only in presence of srp68. this ribonucleoprotein complex might interact directly with the docking protein in the er membrane and possibly participate in the elongation arrest function. | Gene Ontology:
molecular function: molecular function: biological process: molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H012741_01
Name: Glutaredoxin (thioltransferase) |
Sum Func: | SP Function: has a glutathione-disulfide oxidoreductase activity in the presence of nadph and glutathione reductase. reduces low molecular weight disulfides and proteins. | Gene Ontology:
biological process: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H006807_01
Name: Cytokine inducible SH2-containing protein |
Sum Func: The protein encoded by this gene contains a SH2 domain and a SOCS box domain. The protein thus belongs to the cytokine-induced STAT inhibitor (CIS), also known as suppressor of cytokine signaling (SOCS) or STAT-induced STAT inhibitor (SSI), protein family. CIS family members are known to be cytokine-inducible negative regulators of cytokine signaling. The expression of this gene can be induced by IL2, IL3, GM-CSF and EPO in hematopoietic cells. Proteasome-mediated degradation of this protein has been shown to be involved in the inactivation of the erythropoietin receptor. Two alternatively spliced transcript variants of this gene encoding distinct isoforms have been described. | SP Function: | Gene Ontology:
cellular component: biological process: molecular function: biological process: |
BioCarta Pathways:
1: Growth Hormone Signaling Pathway 2: IL-2 Receptor Beta Chain in T cell Activation |
KEGG Pathways: |
| Unique id : H004864_01
Name: Ubiquitin specific protease 1 |
Sum Func: Deubiquitinating enzymes (DUBs) are capable of producing a free ubiquitin moiety from ubiquitin-fused precursors and ubiquitinylated proteins in cells. DUBs possess conserved catalytic regions known as the ‘cys domain’ and the ‘his domain.’ There are 2 distinct families of DUBs: ubiquitin-specific processing proteases (UBPs, or USPs) and ubiquitin C-terminal hydrolases (UCHs).[supplied by OMIM] | SP Function: | Gene Ontology:
molecular function: molecular function: biological process: molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H006584_01
Name: Splicing factor, arginine/serine-rich 11 |
Sum Func: This gene encodes 54-kD nuclear protein that contains an arginine/serine-rich region similar to segments found in pre-mRNA splicing factors. Although the function of this protein is not yet known, structure and immunolocalization data suggest that it may play a role in pre-mRNA processing. | SP Function: may function in pre-mrna splicing. | Gene Ontology:
molecular function: biological process: biological process: cellular component: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H010826_01
Name: Tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma polypeptide |
Sum Func: This gene product belongs to the 14-3-3 family of proteins which mediate signal transduction by binding to phosphoserine-containing proteins. This highly conserved protein family is found in both plants and mammals, and this protein is 100% identical to the rat ortholog. It is induced by growth factors in human vascular smooth muscle cells, and is also highly expressed in skeletal and heart muscles, suggesting an important role for this protein in muscle tissue. It has been shown to interact with RAF1 and protein kinase C, proteins involved in various signal transduction pathways. | SP Function: | Gene Ontology:
molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H016588_01
Name: Retinoblastoma binding protein 6 |
Sum Func: The retinoblastoma tumor suppressor (pRB) protein binds with many other proteins. In various human cancers, pRB suppresses cellular proliferation and is inactivated. Cell cycle-dependent phosphorylation regulates the activity of pRB. This gene encodes a protein which binds to underphosphorylated but not phosphorylated pRB. Multiple alternatively spliced transcript variants that encode different isoforms have been found for this gene. | SP Function: | Gene Ontology:
molecular function: molecular function: biological process: biological process: cellular component: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H010792_01
Name: Dynein, cytoplasmic, light intermediate polypeptide 2 |
Sum Func: | SP Function: may play a role in regulating interactions between dynein and p150-glued, and the cellular substrates for dynein- mediated motility (such as organelles) (by similarity). | Gene Ontology:
molecular function: cellular component: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002850_01
Name: B lymphoma Mo-MLV insertion region (mouse) |
Sum Func: | SP Function: involved in maintaining the transcriptionally repressive state of genes. modifies chromatin, rendering it heritably changed in its expressibility. | Gene Ontology:
biological process: biological process: cellular component: biological process: biological process: biological process: cellular component: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003618_01
Name: Dopachrome tautomerase (dopachrome delta-isomerase, tyrosine-related protein 2) |
Sum Func: | SP Function: involved in regulating eumelanin and phaeomelanin levels. | Gene Ontology:
molecular function: molecular function: biological process: cellular component: molecular function: biological process: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003415_01
Name: Protein kinase, cAMP-dependent, catalytic, beta |
Sum Func: cAMP is a signaling molecule important for a variety of cellular functions. cAMP exerts its effects by activating the cAMP-dependent protein kinase (AMPK), which transduces the signal through phosphorylation of different target proteins. The inactive holoenzyme of AMPK is a tetramer composed of two regulatory and two catalytic subunits. cAMP causes the dissociation of the inactive holoenzyme into a dimer of regulatory subunits bound to four cAMP and two free monomeric catalytic subunits. Four different regulatory subunits and three catalytic subunits of AMPK have been identified in humans. The protein encoded by this gene is a member of the Ser/Thr protein kinase family and is a catalytic subunit of AMPK. Three alternatively spliced transcript variants encoding distinct isoforms have been observed. | SP Function: phosphorylates a large number of substrates in the cytoplasm and the nucleus. | Gene Ontology:
molecular function: molecular function: cellular component: biological process: molecular function: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways:
7: Gap junction |
| Unique id : H006601_01
Name: V-maf musculoaponeurotic fibrosarcoma oncogene homolog (avian) |
Sum Func: | SP Function: | Gene Ontology:
molecular function: molecular function: biological process: cellular component: cellular component: biological process: biological process: |
BioCarta Pathways:
1: GATA3 participate in activating the Th2 cytokine genes expression |
KEGG Pathways: |
| Unique id : H001698_01
Name: Protein kinase, cAMP-dependent, regulatory, type II, alpha |
Sum Func: cAMP is a signaling molecule important for a variety of cellular functions. cAMP exerts its effects by activating the cAMP-dependent protein kinase (AMPK), which transduces the signal through phosphorylation of different target proteins. The inactive holoenzyme of AMPK is a tetramer composed of two regulatory and two catalytic subunits. cAMP causes the dissociation of the inactive holoenzyme into a dimer of regulatory subunits bound to four cAMP and two free monomeric catalytic subunits. Four different regulatory subunits and three catalytic subunits of AMPK have been identified in humans. The protein encoded by this gene is one of the regulatory subunits. This subunit can be phosphorylated by the activated catalytic subunit. It may interact with various A-kinase anchoring proteins and determine the subcellular localization of AMPK. This subunit has been shown to regulate protein transport from endosomes to the Golgi apparatus and further to the endoplasmic reticulum (ER). | SP Function: type ii regulatory chains mediate membrane association by binding to anchoring proteins, including the map2 kinase. | Gene Ontology:
molecular function: cellular component: molecular function: molecular function: cellular component: biological process: molecular function: cellular component: cellular component: biological process: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H000645_01
Name: Protein kinase, cAMP-dependent, regulatory, type I, alpha (tissue specific extinguisher 1) |
Sum Func: cAMP is a signaling molecule important for a variety of cellular functions. cAMP exerts its effects by activating the cAMP-dependent protein kinase (AMPK), which transduces the signal through phosphorylation of different target proteins. The inactive holoenzyme of AMPK is a tetramer composed of two regulatory and two catalytic subunits. cAMP causes the dissociation of the inactive holoenzyme into a dimer of regulatory subunits bound to four cAMP and two free monomeric catalytic subunits. Four different regulatory subunits and three catalytic subunits of AMPK have been identified in humans. The protein encoded by this gene is one of the regulatory subunits. This protein was found to be a tissue-specific extinguisher that down-regulates the expression of seven liver genes in hepatoma x fibroblast hybrids. Functional null mutations in this gene cause Carney complex (CNC), an autosomal dominant multiple neoplasia syndrome. This gene can fuse to the RET protooncogene by gene rearrangement and form the thyroid tumor-specific chimeric oncogene known as PTC2. Three alternatively spliced transcript variants encoding the same protein have been observed. | SP Function: | Gene Ontology:
molecular function: cellular component: molecular function: biological process: biological process: biological process: |
BioCarta Pathways:
1: Activation of cAMP-dependent protein kinase, PKA |
KEGG Pathways: |
| Unique id : H002045_01
Name: Nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1 |
Sum Func: The product of this gene is a component of the nuclear factor of activated T cells DNA-binding transcription complex. This complex consists of at least two components: a preexisting cytosolic component that translocates to the nucleus upon T cell receptor (TCR) stimulation, and an inducible nuclear component. Proteins belonging to this family of transcription factors play a central role in inducible gene transcription during immune response. The product of this gene is an inducible nuclear component. It functions as a major molecular target for the immunosuppressive drugs such as cyclosporin A. Five transcript variants encoding distinct isoforms have been identified for this gene. Different isoforms of this protein may regulate inducible expression of different cytokine genes. | SP Function: plays a role in the inducible expression of cytokine genes in t cells, especially in the induction of the il-2 or il-4 gene transcription. also control gene expression in embryonic cardiac cells. could regulate not only the activation and proliferation but also the differentiation and programmed death of t-lymphocytes as well as lymphoid and non-lymphoid cells. | Gene Ontology:
molecular function: cellular component: cellular component: biological process: molecular function: molecular function: biological process: |
BioCarta Pathways:
1: GATA3 participate in activating the Th2 cytokine genes expression 2: BCR Signaling Pathway 3: Effects of calcineurin in Keratinocyte Differentiation 4: fMLP induced chemokine gene expression in HMC-1 cells 5: Fc Epsilon Receptor I Signaling in Mast Cells 6: Signaling Pathway from G-Protein Families 7: Control of skeletal myogenesis by HDAC & calcium/calmodulin-dependent kinase (CaMK) 8: Role of MEF2D in T-cell Apoptosis 9: NFAT and Hypertrophy of the heart (Transcription in the broken heart) 10: T Cell Receptor Signaling Pathway 11: Neuropeptides VIP and PACAP inhibit the apoptosis of activated T cells |
KEGG Pathways: |
| Unique id : H001032_01
Name: Cytotoxic T-lymphocyte-associated protein 4 |
Sum Func: | SP Function: possibly involved in t-cell activation. binds to b7-1 (cd80) and b7-2 (cd86). | Gene Ontology:
biological process: cellular component: |
BioCarta Pathways:
1: The Co-Stimulatory Signal During T-cell Activation |
KEGG Pathways: |
| Unique id : H001210_01
Name: Major histocompatibility complex, class II, DR beta 4 |
Sum Func: HLA-DRB1 belongs to the HLA class II beta chain paralogues. The class II molecule is a heterodimer consisting of an alpha (DRA) and a beta chain (DRB), both anchored in the membrane. It plays a central role in the immune system by presenting peptides derived from extracellular proteins. Class II molecules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). The beta chain is approximately 26-28 kDa. It is encoded by 6 exons, exon one encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, exon 4 encodes the transmembrane domain and exon 5 encodes the cytoplasmic tail. Within the DR molecule the beta chain contains all the polymorphisms specifying the peptide binding specificities. Hundreds of DRB1 alleles have been described and typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. DRB1 is expressed at a level five times higher than its paralogues DRB3, DRB4 and DRB5. DRB1 is present in all individuals. Allelic variants of DRB1 are linked with either none or one of the genes DRB3, DRB4 and DRB5. There are 4 related pseudogenes: DRB2, DRB6, DRB7, DRB8 and DRB9. | SP Function: | Gene Ontology:
molecular function: biological process: biological process: biological process: cellular component: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003054_01
Name: Major histocompatibility complex, class II, DR alpha |
Sum Func: HLA-DRA is one of the HLA class II alpha chain paralogues. This class II molecule is a heterodimer consisting of an alpha and a beta chain, both anchored in the membrane. It plays a central role in the immune system by presenting peptides derived from extracellular proteins. Class II molecules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). The alpha chain is approximately 33-35 kDa and its gene contains 5 exons. Exon 1 encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, and exon 4 encodes the transmembrane domain and the cytoplasmic tail. DRA does not have polymorphisms in the peptide binding part and acts as the sole alpha chain for DRB1, DRB3, DRB4 and DRB5. | SP Function: | Gene Ontology:
molecular function: biological process: biological process: biological process: cellular component: |
BioCarta Pathways:
1: Activation of Csk by cAMP-dependent Protein Kinase Inhibits Signaling through the T Cell Receptor 2: Antigen Dependent B Cell Activation 3: Bystander B Cell Activation 4: B Lymphocyte Cell Surface Molecules 5: The Co-Stimulatory Signal During T-cell Activation 6: The Role of Eosinophils in the Chemokine Network of Allergy 7: IL 5 Signaling Pathway 8: Cytokines and Inflammatory Response 9: Antigen Processing and Presentation 10: Lck and Fyn tyrosine kinases in initiation of TCR Activation 11: Th1/Th2 Differentiation |
KEGG Pathways: |
| Unique id : H002284_01
Name: Major histocompatibility complex, class II, DR beta 4 |
Sum Func: HLA-DRB1 belongs to the HLA class II beta chain paralogues. The class II molecule is a heterodimer consisting of an alpha (DRA) and a beta chain (DRB), both anchored in the membrane. It plays a central role in the immune system by presenting peptides derived from extracellular proteins. Class II molecules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). The beta chain is approximately 26-28 kDa. It is encoded by 6 exons, exon one encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, exon 4 encodes the transmembrane domain and exon 5 encodes the cytoplasmic tail. Within the DR molecule the beta chain contains all the polymorphisms specifying the peptide binding specificities. Hundreds of DRB1 alleles have been described and typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. DRB1 is expressed at a level five times higher than its paralogues DRB3, DRB4 and DRB5. DRB1 is present in all individuals. Allelic variants of DRB1 are linked with either none or one of the genes DRB3, DRB4 and DRB5. There are 4 related pseudogenes: DRB2, DRB6, DRB7, DRB8 and DRB9. | SP Function: | Gene Ontology:
molecular function: biological process: biological process: biological process: cellular component: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H015660_01
Name: Major histocompatibility complex, class II, DR beta 4 |
Sum Func: HLA-DRB1 belongs to the HLA class II beta chain paralogues. The class II molecule is a heterodimer consisting of an alpha (DRA) and a beta chain (DRB), both anchored in the membrane. It plays a central role in the immune system by presenting peptides derived from extracellular proteins. Class II molecules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). The beta chain is approximately 26-28 kDa. It is encoded by 6 exons, exon one encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, exon 4 encodes the transmembrane domain and exon 5 encodes the cytoplasmic tail. Within the DR molecule the beta chain contains all the polymorphisms specifying the peptide binding specificities. Hundreds of DRB1 alleles have been described and typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. DRB1 is expressed at a level five times higher than its paralogues DRB3, DRB4 and DRB5. DRB1 is present in all individuals. Allelic variants of DRB1 are linked with either none or one of the genes DRB3, DRB4 and DRB5. There are 4 related pseudogenes: DRB2, DRB6, DRB7, DRB8 and DRB9. | SP Function: | Gene Ontology:
molecular function: biological process: biological process: biological process: cellular component: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003820_01
Name: Lymphocyte-specific protein tyrosine kinase |
Sum Func: | SP Function: may participate in antigen-induced t-cell activation. | Gene Ontology:
molecular function: biological process: biological process: biological process: cellular component: biological process: molecular function: molecular function: biological process: molecular function: |
BioCarta Pathways:
1: Activation of Csk by cAMP-dependent Protein Kinase Inhibits Signaling through the T Cell Receptor 2: The Co-Stimulatory Signal During T-cell Activation 3: IL 2 signaling pathway 4: IL-7 Signal Transduction 5: T Cell Receptor Signaling Pathway 6: Lck and Fyn tyrosine kinases in initiation of TCR Activation |
KEGG Pathways:
2: Cell cycle 8: Gap junction 10: Natural killer cell mediated cytotoxicity 11: T cell receptor signaling pathway 12: B cell receptor signaling pathway 13: Fc epsilon RI signaling pathway 14: Leukocyte transendothelial migration 16: Regulation of actin cytoskeleton 18: Adipocytokine signaling pathway 19: Epithelial cell signaling in Helicobacter pylori infection |
| Unique id : H000858_01
Name: Major histocompatibility complex, class II, DR beta 4 |
Sum Func: HLA-DRB1 belongs to the HLA class II beta chain paralogues. The class II molecule is a heterodimer consisting of an alpha (DRA) and a beta chain (DRB), both anchored in the membrane. It plays a central role in the immune system by presenting peptides derived from extracellular proteins. Class II molecules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). The beta chain is approximately 26-28 kDa. It is encoded by 6 exons, exon one encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, exon 4 encodes the transmembrane domain and exon 5 encodes the cytoplasmic tail. Within the DR molecule the beta chain contains all the polymorphisms specifying the peptide binding specificities. Hundreds of DRB1 alleles have been described and typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. DRB1 is expressed at a level five times higher than its paralogues DRB3, DRB4 and DRB5. DRB1 is present in all individuals. Allelic variants of DRB1 are linked with either none or one of the genes DRB3, DRB4 and DRB5. There are 4 related pseudogenes: DRB2, DRB6, DRB7, DRB8 and DRB9. | SP Function: | Gene Ontology:
molecular function: biological process: biological process: biological process: cellular component: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H001197_01
Name: T cell receptor beta locus |
Sum Func: T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor beta locus. The beta locus includes V (variable), J (joining), diversity (D), and C (constant) segments. During T cell development, the beta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Several V segments and one J segment of the beta locus are known to be incapable of encoding a protein and are considered pseudogenes. The beta locus also includes eight trypsinogen genes, three of which encode functional proteins and five of which are pseudogenes. Chromosomal abnormalities involving the T-cell receptor beta locus have been associated with T-cell lymphomas. | SP Function: | Gene Ontology:
molecular function: biological process: molecular function: cellular component: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002570_01
Name: Interleukin 2 |
Sum Func: The protein encoded by this gene is a secreted cytokine that is important for the proliferation of T and B lymphocytes. The receptor of this cytokine is a heterotrimeric protein complex whose gamma chain is also shared by interleukin 4 (IL4) and interleukin 7 (IL7). The expression of this gene in mature thymocytes is monoallelic, which represents an unusual regulatory mode for controlling the precise expression of a single gene. The targeted disruption of a similar gene in mice leads to ulcerative colitis-like disease, which suggests an essential role of this gene in the immune response to antigenic stimuli. | SP Function: | Gene Ontology: | BioCarta Pathways:
1: The 4-1BB-dependent immune response 2: Antigen Dependent B Cell Activation 3: The Co-Stimulatory Signal During T-cell Activation 4: Cytokine Network 5: IL 18 Signaling Pathway 6: IL 2 signaling pathway 7: Cytokines and Inflammatory Response 8: Selective expression of chemokine receptors during T-cell polarization 9: OX40 Signaling Pathway 10: Regulation of hematopoiesis by cytokines 11: Th1/Th2 Differentiation 12: Role of Tob in T-cell activation |
KEGG Pathways: |
| Unique id : H001267_01
Name: CD3Z antigen, zeta polypeptide (TiT3 complex) |
Sum Func: T-cell receptor zeta, together with T-cell receptor alpha/beta and gamma/delta heterodimers and CD3-gamma, -delta, and -epsilon, forms the T-cell receptor-CD3 complex. The zeta chain plays an important role in coupling antigen recognition to several intracellular signal-transduction pathways. Low expression of the antigen results in impaired immune response. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. | SP Function: probable role in assembly and expression of the tcr complex as well as signal transduction upon antigen triggering. | Gene Ontology:
cellular component: biological process: cellular component: cellular component: cellular component: molecular function: molecular function: molecular function: molecular function: |
BioCarta Pathways:
1: Activation of Csk by cAMP-dependent Protein Kinase Inhibits Signaling through the T Cell Receptor 2: IL12 and Stat4 Dependent Signaling Pathway in Th1 Development 3: CTL mediated immune response against target cells 4: The Co-Stimulatory Signal During T-cell Activation 5: IL 17 Signaling Pathway 6: NO2-dependent IL 12 Pathway in NK cells 7: Stathmin and breast cancer resistance to antimicrotubule agents 8: HIV Induced T Cell Apoptosis 9: T Cell Receptor Signaling Pathway 10: Lck and Fyn tyrosine kinases in initiation of TCR Activation 11: T Cell Receptor and CD3 Complex 12: T Cytotoxic Cell Surface Molecules 13: T Helper Cell Surface Molecules 14: Role of Tob in T-cell activation |
KEGG Pathways: |
| Unique id : H001983_01
Name: Fanconi anemia, complementation group G |
Sum Func: FANCG, involved in Fanconi anemia, confers resistance to both hygromycin and mitomycin C. FANCG contains a 5-prime GC-rich untranslated region characteristic of housekeeping genes. The putative 622-amino acid protein has a leucine-zipper motif at its N-terminus. Fanconi anemia is an autosomal recessive disorder with diverse clinical symptoms, including developmental anomalies, bone marrow failure, and early occurrence of malignancies. A minimum of 8 FA genes have been identified. The FANCG gene is responsible for complementation group G. | SP Function: dna repair protein that may operate in a postreplication repair or a cell cycle checkpoint function. may be implicated in interstrand dna cross-link repair and in the maintenance of normal chromosome stability. candidate tumor suppressor gene. | Gene Ontology:
biological process: biological process: molecular function: cellular component: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H001967_01
Name: Cyclin E2 |
Sum Func: The protein encoded by this gene belongs to the highly conserved cyclin family, whose members are characterized by a dramatic periodicity in protein abundance through the cell cycle. Cyclins function as regulators of CDK kinases. Different cyclins exhibit distinct expression and degradation patterns which contribute to the temporal coordination of each mitotic event. This cyclin forms a complex with and functions as a regulatory subunit of CDK2. This cyclin has been shown to specifically interact with CIP/KIP family of CDK inhibitors, and plays a role in cell cycle G1/S transition. The expression of this gene peaks at the G1-S phase and exhibits a pattern of tissue specificity distinct from that of cyclin E1. A significantly increased expression level of this gene was observed in tumor-derived cells. Three alternatively spliced transcript variants, which encode distinct isoforms, have been reported. | SP Function: essential for the control of the cell cycle at the late g1 and early s phase. | Gene Ontology:
biological process: biological process: cellular component: biological process: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002232_01
Name: Cell division cycle 34 |
Sum Func: The protein encoded by this gene is a member of the ubiquitin-conjugating enzyme family. Ubiquitin-conjugating enzyme catalyzes the covalent attachment of ubiquitin to other proteins. This protein is a part of the large multiprotein complex, which is required for ubiquitin-mediated degradation of cell cycle G1 regulators, and for the initiation of DNA replication. | SP Function: catalyzes the covalent attachment of ubiquitin to other proteins. | Gene Ontology:
biological process: biological process: molecular function: cellular component: molecular function: biological process: molecular function: |
BioCarta Pathways:
1: Cyclin E Destruction Pathway 2: Cell Cycle: G2/M Checkpoint 3: E2F1 Destruction Pathway |
KEGG Pathways: |
| Unique id : H003207_01
Name: V-abl Abelson murine leukemia viral oncogene homolog 1 |
Sum Func: The ABL1 protooncogene encodes a cytoplasmic and nuclear protein tyrosine kinase that has been implicated in processes of cell differentiation, cell division, cell adhesion, and stress response. Activity of c-Abl protein is negatively regulated by its SH3 domain, and deletion of the SH3 domain turns ABL1 into an oncogene. The t(9;22) translocation results in the head-to-tail fusion of the BCR (MIM:151410) and ABL1 genes present in many cases of chronic myelogenous leukemia. The DNA-binding activity of the ubiquitously expressed ABL1 tyrosine kinase is regulated by CDC2-mediated phosphorylation, suggesting a cell cycle function for ABL1. The ABL1 gene is expressed as either a 6- or 7-kb mRNA transcript, with alternatively spliced first exons spliced to the common exons 2-11. | SP Function: | Gene Ontology:
molecular function: molecular function: biological process: biological process: biological process: biological process: biological process: cellular component: biological process: molecular function: biological process: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways:
2: Cell cycle 8: Gap junction 10: Natural killer cell mediated cytotoxicity 11: T cell receptor signaling pathway 12: B cell receptor signaling pathway 13: Fc epsilon RI signaling pathway 14: Leukocyte transendothelial migration 16: Regulation of actin cytoskeleton 18: Adipocytokine signaling pathway 19: Epithelial cell signaling in Helicobacter pylori infection |
| Unique id : H003023_01
Name: Dihydrofolate reductase |
Sum Func: Dihydrofolate reductase converts dihydrofolate into tetrahydrofolate, a methyl group shuttle required for the de novo synthesis of purines, thymidylic acid, and certain amino acids. While the functional dihydrofolate reductase gene has been mapped to chromosome 5, four intronless processed pseudogenes have been identified on separate chromosomes. Dihydrofolate reductase deficiency has been linked to megaloblastic anemia. | SP Function: | Gene Ontology:
cellular component: molecular function: biological process: biological process: biological process: molecular function: |
BioCarta Pathways:
1: Cell Cycle: G1/S Check Point |
KEGG Pathways: |
| Unique id : H009086_01
Name: S-phase kinase-associated protein 2 (p45) |
Sum Func: This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbls class; in addition to an F-box, this protein contains 10 tandem leucine-rich repeats. This protein is an essential element of the cyclin A-CDK2 S-phase kinase. It specifically recognizes phosphorylated cyclin-dependent kinase inhibitor 1B (CDKN1B, also referred to as p27 or KIP1) predominantly in S phase and interacts with S-phase kinase-associated protein 1 (SKP1 or p19). In addition, this gene is established as a protooncogene causally involved in the pathogenesis of lymphomas. Alternative splicing of this gene generates 2 transcript variants encoding different isoforms. | SP Function: | Gene Ontology:
biological process: biological process: biological process: biological process: |
BioCarta Pathways:
1: Cell Cycle: G1/S Check Point 2: Regulation of p27 Phosphorylation during Cell Cycle Progression 3: E2F1 Destruction Pathway |
KEGG Pathways: |
| Unique id : H000650_01
Name: Glycogen synthase kinase 3 beta |
Sum Func: Glycogen synthase kinase-3 (GSK3) is a proline-directed serine-threonine kinase that was initially identified as a phosphorylating and inactivating glycogen synthase. Two isoforms, alpha (GSK3A; MIM 606784) and beta, show a high degree of amino acid homology (Stambolic and Woodgett, 1994 [PubMed 7980435]). GSK3B is involved in energy metabolism, neuronal cell development, and body pattern formation (Plyte et al., 1992 [PubMed 1333807]).[supplied by OMIM] | SP Function: participates in the wnt signaling pathway. implicated in the hormonal control of several regulatory proteins including glycogen synthase, myb and the transcription factor jun. phosphorylates jun at sites proximal to its dna-binding domain, thereby reducing its affinity for DNA. | Gene Ontology:
molecular function: biological process: biological process: molecular function: biological process: molecular function: |
BioCarta Pathways:
1: ALK in cardiac myocytes 2: Regulation of eIF2 3: Cell Cycle: G1/S Check Point 4: Inactivation of Gsk3 by AKT causes accumulation of b-catenin in Alveolar Macrophages 5: Segmentation Clock 6: Skeletal muscle hypertrophy is regulated via AKT/mTOR pathway 7: NFAT and Hypertrophy of the heart (Transcription in the broken heart) 8: Deregulation of CDK5 in Alzheimer’s Disease 9: Multi-step Regulation of Transcription by Pitx2 10: Presenilin action in Notch and Wnt signaling 11: Phosphoinositides and their downstream targets. 12: Sonic Hedgehog (Shh) Pathway 13: WNT Signaling Pathway |
KEGG Pathways:
2: Cell cycle 4: Apoptosis 6: Dorso-ventral axis formation 11: Focal adhesion 13: Tight junction 14: Gap junction 15: Toll-like receptor signaling pathway 16: Jak-STAT signaling pathway 17: Natural killer cell mediated cytotoxicity 18: T cell receptor signaling pathway 19: B cell receptor signaling pathway 20: Fc epsilon RI signaling pathway 21: Circadian rhythm 24: Regulation of actin cytoskeleton |
| Unique id : H000578_01
Name: Histone deacetylase 1 |
Sum Func: Histone acetylation and deacetylation, catalyzed by multisubunit complexes, play a key role in the regulation of eukaryotic gene expression. The protein encoded by this gene belongs to the histone deacetylase/acuc/apha family and is a component of the histone deacetylase complex. It also interacts with retinoblastoma tumor-suppressor protein and this complex is a key element in the control of cell proliferation and differentiation. Together with metastasis-associated protein-2, it deacetylates p53 and modulates its effect on cell growth and apoptosis. | SP Function: responsible for the deacetylation of lysine residues on the n-terminal part of the core histones (h2a, h2b, h3 and h4). histone deacetylation gives a tag for epigenetic repression and plays an important role in transcriptional regulation, cell cycle progression and developmental events. histone deacetylases act via the formation of large multiprotein complexes. | Gene Ontology:
biological process: biological process: cellular component: molecular function: cellular component: biological process: molecular function: cellular component: biological process: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003225_01
Name: Interferon regulatory factor 7 |
Sum Func: IRF7 encodes interferon regulatory factor 7, a member of the interferon regulatory transcription factor (IRF) family. IRF7 has been shown to play a role in the transcriptional activation of virus-inducible cellular genes, including interferon beta chain genes. Inducible expression of IRF7 is largely restricted to lymphoid tissue. Multiple IRF7 transcript variants have been identified, although the functional consequences of these have not yet been established. | SP Function: transcriptional activator. binds to the interferon- stimulated response element (isre) in ifn promoters and in the q promoter (qp) of ebv nuclear antigen-1 (ebna1). | Gene Ontology:
cellular component: biological process: biological process: cellular component: biological process: biological process: biological process: biological process: molecular function: molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H001850_01
Name: Interferon, alpha-inducible protein (clone IFI-15K) |
Sum Func: | SP Function: acts as ubiquitin by conjugation to intracellular target proteins, through an enzyme pathway distinct from that of ubiquitin, differing in substrate specificity and interaction with ligating enzymes. targets include serpina3g/spi2a, jak1, mapk3/erk1 and plcg1. shows specific chemotactic activity towards neutrophils and activates them to induce release of eosinophil chemotactic factors. may serve as a trans-acting binding factor directing the association of ligated target proteins to intermediate filaments. may also be involved in autocrine, paracrine and endocrine mechanisms, as in cell-to-cell signaling, possibly partly by inducing ifn-gamma secretion by monocytes and macrophages. | Gene Ontology:
biological process: cellular component: cellular component: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H000473_01
Name: Uridine phosphorylase 1 |
Sum Func: | SP Function: | Gene Ontology:
cellular component: biological process: biological process: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002726_01
Name: B-cell CLL/lymphoma 3 |
Sum Func: This gene is a proto-oncogene candidate. It is identified by its translocation into the immunoglobulin alpha-locus in some cases of B-cell leukemia. The protein encoded by this gene contains seven ankyrin repeats, which are most closely related to those found in I kappa B proteins. This protein functions as a transcriptional co-activator that activates through its association with NF-kappa B homodimers. The expression of this gene can be induced by NF-kappa B, which forms a part of the autoregulatory loop that controls the nuclear residence of p50 NF-kappa B. | SP Function: could be a transcriptional activating factor. functions as a form of i-kappa-b specific for nf-kappa-b p50 subunit inhibiting its translocation to the nucleus. | Gene Ontology:
biological process: biological process: cellular component: biological process: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003466_01
Name: CD68 antigen |
Sum Func: CD68 is a 110-kD transmembrane glycoprotein that is highly expressed by human monocytes and tissue macrophages. It is a type I integral membrane protein with a heavily glycosylated extracellular domain. | SP Function: could play a role in phagocytic activities of tissue macrophages, both in intracellular lysosomal metabolism and extracellular cell-cell and cell-pathogen interactions. bind to tissue- and organ-specific lectins or selectins, allowing homing of macrophage subsets to particular sites. rapid recirculation of cd68 from endosomes, lysosomes to the plasma membrane may allow macrophages to crawl over selectin bearing substrates or other cells. | Gene Ontology:
cellular component: cellular component: cellular component: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003299_01
Name: Prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase) |
Sum Func: Prostaglandin-endoperoxide synthase (PTGS), also known as cyclooxygenase, is the key enzyme in prostaglandin biosynthesis, and acts both as a dioxygenase and as a peroxidase. There are two isozymes of PTGS: a constitutive PTGS1 and an inducible PTGS2, which differ in their regulation of expression and tissue distribution. This gene encodes PTGS1, which regulates angiogenesis in endothelial cells, and is inhibited by nonsteroidal anti-inflammatory drugs such as aspirin. PTGS1 is thought to be involved in cell-cell signaling and maintaining tissue homeostasis. Alternative splicing of this gene generates two transcript variants. The expression of these two transcripts is differentially regulated by relevant cytokines and growth factors. | SP Function: may play an important role in regulating or promoting cell proliferation in some normal and neoplastically transformed cells. | Gene Ontology:
cellular component: biological process: biological process: cellular component: cellular component: cellular component: molecular function: molecular function: molecular function: biological process: biological process: molecular function: biological process: |
BioCarta Pathways:
1: Mechanism of Acetaminophen Activity and Toxicity 2: Eicosanoid Metabolism 3: Aspirin Blocks Signaling Pathway Involved in Platelet Activation |
KEGG Pathways: |
| Unique id : H003029_01
Name: Disabled homolog 2, mitogen-responsive phosphoprotein (Drosophila) |
Sum Func: DAB2 mRNA is expressed in normal ovarian epithelial cells but is down-regulated or absent from ovarian carcinoma cell lines. The 770-amino acid predicted protein has an overall 83% identity with the mouse p96 protein, a putative mitogen-responsive phosphoprotein; homology is strongest in the amino-terminal end of the protein in a region corresponding to the phosphotyrosine interaction domain. The down-regulation of DAB2 may play an important role in ovarian carcinogenesis. This gene was initially named DOC2 (for Differentially expressed in Ovarian Cancer) and is distinct from the DOC2A and DOC2B genes (for double C2-like domains, alpha and beta). | SP Function: component of the csf-1 signal transduction pathway (by similarity). | Gene Ontology:
biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003752_01
Name: Platelet-derived growth factor receptor, beta polypeptide |
Sum Func: This gene encodes a cell surface tyrosine kinase receptor for members of the platelet-derived growth factor family. These growth factors are mitogens for cells of mesenchymal origin. The identity of the growth factor bound to a receptor monomer determines whether the functional receptor is a homodimer or a heterodimer, composed of both platelet-derived growth factor receptor alpha and beta polypeptides. This gene is flanked on chromosome 5 by the genes for granulocyte-macrophage colony-stimulating factor and macrophage-colony stimulating factor receptor; all three genes may be implicated in the 5-q syndrome. A translocation between chromosomes 5 and 12, that fuses this gene to that of the translocation, ETS, leukemia gene, results in chronic myelomonocytic leukemia. | SP Function: receptor that binds specifically to pdgfb and has a tyrosine-protein kinase activity. phosphorylates tyr residues at the c-terminus of ptpn11 creating a binding site for the sh2 domain of grb2. | Gene Ontology:
molecular function: biological process: cellular component: molecular function: molecular function: biological process: molecular function: biological process: molecular function: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways:
3: Cytokine-cytokine receptor interaction 4: Apoptosis 5: Dorso-ventral axis formation 10: Gap junction 11: Hematopoietic cell lineage 13: Regulation of actin cytoskeleton 17: Dentatorubropallidoluysian atrophy (DRPLA) 18: Epithelial cell signaling in Helicobacter pylori infection |
| Unique id : H006885_01
Name: Ribonuclease T2 |
Sum Func: This ribonuclease 6 gene is a novel member of the Rh/T2/S-glycoprotein class of extracellular ribonucleases. It is a single copy gene that maps to 6q27, a region associated with human malignancies and chromosomal rearrangement. | SP Function: | Gene Ontology:
molecular function: biological process: molecular function: cellular component: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H000998_01
Name: Solute carrier family 3 (activators of dibasic and neutral amino acid transport), member 2 |
Sum Func: | SP Function: involved in normal and neoplastic cell growth. | Gene Ontology:
molecular function: biological process: biological process: molecular function: biological process: biological process: cellular component: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H001908_01
Name: Discoidin domain receptor family, member 2 |
Sum Func: Receptor tyrosine kinases (RTKs) play a key role in the communication of cells with their microenvironment. These molecules are involved in the regulation of cell growth, differentiation and metabolism. In several cases the biochemical mechanism by which RTKs transduce signals across the membrane has been shown to be ligand induced receptor oligomerization and subsequent intracellular phosphorylation. This autophosphorylation leads to phosphorylation of cytosolic targets as well as association with other molecules, which are involved in pleiotropic effects of signal transduction. RTK’s have a tripartite structure with extracellular, transmembrane and cytoplasmic regions. There are several subclasses of RTKs and DDR2 belongs to a novel subclass. The deduced amino acid sequence has a unique extracellular region encompassing a factor VIII-like domain, not previously described for RTKs. | SP Function: this tyrosine kinase receptor for fibrillar collagen mediates fibroblast migration and proliferation. contributes to cutaneous wound healing (by similarity). | Gene Ontology:
molecular function: biological process: cellular component: biological process: molecular function: biological process: molecular function: molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H001001_01
Name: Procollagen C-endopeptidase enhancer |
Sum Func: Fibrillar collagen types I-III are synthesized as precursor molecules known as procollagens. These precursors contain amino- and carboxyl-terminal peptide extensions known as N- and C-propeptides, respectively, which are cleaved, upon secretion of procollagen from the cell, to yield the mature triple helical, highly structured fibrils. This gene encodes a glycoprotein which binds and drives the enzymatic cleavage of type I procollagen and heightens C-proteinase activity. | SP Function: c-terminal processed part of pcpe (ct-pcpe) may have an metalloproteinase inhibitory activity. | Gene Ontology:
biological process: molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H000774_01
Name: Collagen, type VI, alpha 1 |
Sum Func: The collagens are a superfamily of proteins that play a role in maintaining the integrity of various tissues. Collagens are extracellular matrix proteins and have a triple-helical domain as their common structural element. Collagen VI is a major structural component of microfibrils. The basic structural unit of collagen VI is a heterotrimer of the alpha1(VI), alpha2(VI), and alpha3(VI) chains. The alpha2(VI) and alpha3(VI) chains are encoded by the COL6A2 and COL6A3 genes, respectively. The protein encoded by this gene is the alpha 1 subunit of type VI collagen (alpha1(VI) chain). Mutations in the genes that code for the collagen VI subunits result in the autosomal dominant disorder, Bethlem myopathy. | SP Function: collagen vi acts as a cell-binding protein. | Gene Ontology:
biological process: cellular component: cellular component: cellular component: molecular function: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002775_01
Name: Platelet-derived growth factor receptor, alpha polypeptide |
Sum Func: This gene encodes a cell surface tyrosine kinase receptor for members of the platelet-derived growth factor family. These growth factors are mitogens for cells of mesenchymal origin. The identity of the growth factor bound to a receptor monomer determines whether the functional receptor is a homodimer or a heterodimer, composed of both platelet-derived growth factor receptor alpha and beta polypeptides. Studies in knockout mice, where homozygosity is lethal, indicate that the alpha form of the platelet-derived growth factor receptor is particularly important for kidney development since mice heterozygous for the receptor exhibit defective kidney phenotypes. | SP Function: receptor that binds both pdgfa and pdgfb and has a tyrosine-protein kinase activity. | Gene Ontology:
molecular function: biological process: biological process: cellular component: molecular function: biological process: molecular function: molecular function: biological process: molecular function: |
BioCarta Pathways:
1: CBL mediated ligand-induced downregulation of EGF receptors 2: Role of PI3K subunit p85 in regulation of Actin Organization and Cell Migration 3: Phospholipids as signalling intermediaries 4: Erk1/Erk2 Mapk Signaling pathway 5: PDGF Signaling Pathway 6: Rac 1 cell motility signaling pathway |
KEGG Pathways:
3: Cytokine-cytokine receptor interaction 4: Apoptosis 5: Dorso-ventral axis formation 10: Gap junction 11: Hematopoietic cell lineage 13: Regulation of actin cytoskeleton 17: Dentatorubropallidoluysian atrophy (DRPLA) 18: Epithelial cell signaling in Helicobacter pylori infection |
| Unique id : H010646_01
Name: Ribonuclease T2 |
Sum Func: This ribonuclease 6 gene is a novel member of the Rh/T2/S-glycoprotein class of extracellular ribonucleases. It is a single copy gene that maps to 6q27, a region associated with human malignancies and chromosomal rearrangement. | SP Function: | Gene Ontology:
molecular function: biological process: molecular function: cellular component: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002295_01
Name: Adenosine deaminase |
Sum Func: Adenosine deaminase catalyzes the hydrolysis of adenosine to inosine. ADA deficiency causes one form of severe combined immunodeficiency disease (SCID), in which there is dysfunction of both B and T lymphocytes with impaired cellular immunity and decreased production of immunoglobulins. | SP Function: | Gene Ontology:
molecular function: biological process: molecular function: biological process: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H012626_01
Name: Beta-2-microglobulin |
Sum Func: | SP Function: | Gene Ontology:
molecular function: biological process: biological process: cellular component: biological process: |
BioCarta Pathways:
1: CTL mediated immune response against target cells 2: Antigen Processing and Presentation 3: Ras-Independent pathway in NK cell-mediated cytotoxicity |
KEGG Pathways: |
| Unique id : H003645_01
Name: Interleukin 11 |
Sum Func: The protein encoded by this gene is a member of the gp130 family of cytokines. These cytokines drive the assembly of multisubunit receptor complexes, all of which contain at least one molecule of the transmembrane signaling receptor IL6ST (gp130). This cytokine is shown to stimulate the T-cell-dependent development of immunoglobulin-producing B cells. It is also found to support the proliferation of hematopoietic stem cells and megakaryocyte progenitor cells. | SP Function: directly stimulates the proliferation of hematopoietic stem cells and megakaryocyte progenitor cells and induces megakaryocyte maturation resulting in increased platelet production. | Gene Ontology:
biological process: biological process: biological process: molecular function: cellular component: molecular function: biological process: biological process: biological process: |
BioCarta Pathways:
1: Erythrocyte Differentiation Pathway 2: Cytokines and Inflammatory Response 3: Regulation of hematopoiesis by cytokines |
KEGG Pathways: |
| Unique id : H003593_01
Name: Collagen, type VI, alpha 2 |
Sum Func: This gene encodes one of the three alpha chains of type VI collagen, a beaded filament collagen found in most connective tissues. The product of this gene contains several domains similar to von Willebrand Factor type A domains. These domains have been shown to bind extracellular matrix proteins, an interaction that explains the importance of this collagen in organizing matrix components. Mutations in this gene are associated with Bethlem myopathy and Ullrich scleroatonic muscular dystrophy. Three transcript variants have been identified for this gene. | SP Function: collagen vi acts as a cell-binding protein. | Gene Ontology:
biological process: cellular component: cellular component: biological process: molecular function: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H001198_01
Name: Collagen, type VI, alpha 1 |
Sum Func: The collagens are a superfamily of proteins that play a role in maintaining the integrity of various tissues. Collagens are extracellular matrix proteins and have a triple-helical domain as their common structural element. Collagen VI is a major structural component of microfibrils. The basic structural unit of collagen VI is a heterotrimer of the alpha1(VI), alpha2(VI), and alpha3(VI) chains. The alpha2(VI) and alpha3(VI) chains are encoded by the COL6A2 and COL6A3 genes, respectively. The protein encoded by this gene is the alpha 1 subunit of type VI collagen (alpha1(VI) chain). Mutations in the genes that code for the collagen VI subunits result in the autosomal dominant disorder, Bethlem myopathy. | SP Function: collagen vi acts as a cell-binding protein. | Gene Ontology:
biological process: cellular component: cellular component: cellular component: molecular function: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002451_01
Name: Flavin containing monooxygenase 1 |
Sum Func: Metabolic N-oxidation of the diet-derived amino-trimethylamine (TMA) is mediated by flavin-containing monooxygenase and is subject to an inherited FMO3 polymorphism in man resulting in a small subpopulation with reduced TMA N-oxidation capacity resulting in fish odor syndrome Trimethylaminuria. Three forms of the enzyme, FMO1 found in fetal liver, FMO2 found in adult liver, and FMO3 are encoded by genes clustered in the 1q23-q25 region. Flavin-containing monooxygenases are NADPH-dependent flavoenzymes that catalyzes the oxidation of soft nucleophilic heteroatom centers in drugs, pesticides, and xenobiotics. | SP Function: this protein is involved in the oxidative metabolism of a variety of xenobiotics such as drugs and pesticides. form i catalyzes the n-oxygenation of secondary and tertiary amines. | Gene Ontology:
molecular function: molecular function: biological process: cellular component: cellular component: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H000592_01
Name: Interferon-induced protein with tetratricopeptide repeats 1 |
Sum Func: | SP Function: | Gene Ontology:
cellular component: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002713_01
Name: Phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma) |
Sum Func: The PLA2G7 gene encodes platelet-activating factor (PAF) acetylhydrolase (EC 3.1.1.47), a secreted enzyme that catalyzes the degradation of PAF to inactive products by hydrolysis of the acetyl group at the sn-2 position, producing the biologically inactive products LYSO-PAF and acetate.[supplied by OMIM] | SP Function: modulates the action of platelet-activating factor (paf) by hydrolyzing the sn-2 ester bond to yield the biologically inactive lyso-paf. has a specificity for substrates with a short residue at the sn-2 position. it is inactive against long-chain phospholipids. | Gene Ontology:
molecular function: cellular component: cellular component: molecular function: biological process: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H010497_01
Name: Interferon induced transmembrane protein 3 (1-8U) |
Sum Func: | SP Function: | Gene Ontology:
biological process: cellular component: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003695_01
Name: Secreted protein, acidic, cysteine-rich (osteonectin) |
Sum Func: Secreted protein acidic and rich in cysteine/osteonectin/BM40, or SPARC, is a matrix-associated protein that elicits changes in cell shape, inhibits cell-cycle progression, and influences the synthesis of extracellular matrix (ECM) (Bradshaw et al., 2003 [PubMed 12721366]).[supplied by OMIM] | SP Function: appears to regulate cell growth through interactions with the extracellular matrix and cytokines. binds calcium and copper, several types of collagen, albumin, thrombospondin, pdgf and cell membranes. there are two calcium binding sites; an acidic domain that binds 5 to 8 ca(2+) with a low affinity and an ef-hand loop that binds a ca(2+) ion with a high affinity. | Gene Ontology:
cellular component: molecular function: molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002330_01
Name: Cadherin 15, M-cadherin (myotubule) |
Sum Func: This gene is a member of the cadherin superfamily of genes, encoding calcium-dependent intercellular adhesion glycoproteins. Cadherins consist of an extracellular domain containing 5 cadherin domains, a transmembrane region, and a conserved cytoplasmic domain. Transcripts from this particular cadherin are expressed in myoblasts and upregulated in myotubule-forming cells. The protein is thought to be essential for the control of morphogenetic processes, specifically myogenesis, and may provide a trigger for terminal muscle cell differentiation. | SP Function: cadherins are calcium dependent cell adhesion proteins. they preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types. m-cadherin is part of the myogenic program and may provide a trigger for terminal muscle differentiation. | Gene Ontology:
molecular function: biological process: biological process: cellular component: cellular component: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002397_01
Name: Methylene tetrahydrofolate dehydrogenase (NAD+ dependent), methenyltetrahydrofolate cyclohydrolase |
Sum Func: This gene encodes a nuclear-encoded mitochondrial bifunctional enzyme with methylenetetrahydrofolate dehydrogenase and methenyltetrahydrofolate cyclohydrolase activities. The enzyme functions as a homodimer and is unique in its absolute requirement for magnesium and inorganic phosphate. Formation of the enzyme-magnesium complex allows binding of NAD. | SP Function: | Gene Ontology:
molecular function: biological process: molecular function: molecular function: molecular function: molecular function: cellular component: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002672_01
Name: Chemokine orphan receptor 1 |
Sum Func: This gene encodes a member of the G-protein coupled receptor family. Although this protein was earlier thought to be a receptor for vasoactive intestinal peptide (VIP), it is now considered to be an orphan receptor, in that its endogenous ligand has not been identified. The protein is also a coreceptor for human immunodeficiency viruses (HIV). Translocations involving this gene and HMGA2 on chromosome 12 have been observed in lipomas. | SP Function: | Gene Ontology:
molecular function: biological process: cellular component: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002490_01
Name: Tenascin C (hexabrachion) |
Sum Func: | SP Function: sam (substrate-adhesion molecule) that appears to inhibit cell migration. may play a role in supporting the growth of epithelial tumors. is a ligand for integrins alpha-8/beta-1, alpha-9/beta-1, alpha-v/beta-3 and alpha-v/beta-6. | Gene Ontology:
biological process: cellular component: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002283_01
Name: Secretory leukocyte protease inhibitor (antileukoproteinase) |
Sum Func: This gene encodes a secreted inhibitor which protects epithelial tissues from serine proteases. It is found in various secretions including seminal plasma, cervical mucus, and bronchial secretions, and has affinity for trypsin, leukocyte elastase, and cathepsin G. Its inhibitory effect contributes to the immune response by protecting epithelial surfaces from attack by endogenous proteolytic enzymes; the protein is also thought to have broad-spectrum anti-biotic activity. | SP Function: acid-stable proteinase inhibitor with strong affinities for trypsin, chymotrypsin, elastase, and cathepsin g. may prevent elastase-mediated damage to oral and possibly other mucosal tissues. | Gene Ontology:
molecular function: |
BioCarta Pathways:
1: Proepithelin Conversion to Epithelin and Wound Repair Control |
KEGG Pathways: |
| Unique id : H004245_01
Name: Snail homolog 1 (Drosophila) |
Sum Func: The Drosophila embryonic protein snail is a zinc finger transcriptional repressor which downregulates the expression of ectodermal genes within the mesoderm. The nuclear protein encoded by this gene is structurally similar to the Drosophila snail protein, and is also thought to be critical for mesoderm formation in the developing embryo. At least two variants of a similar processed pseudogene have been found on chromosome 2. | SP Function: seems to be involved in embryonic mesoderm formation. binds to 3 e-boxes of the e-cadherin gene promoter and represses its transcription. | Gene Ontology:
molecular function: biological process: biological process: biological process: cellular component: molecular function: |
BioCarta Pathways:
1: Downregulated of MTA-3 in ER-negative Breast Tumors |
KEGG Pathways: |
| Unique id : H002387_01
Name: MutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli) |
Sum Func: MSH2 was identified as a locus frequently mutated in hereditary nonpolyposis colon cancer (HNPCC). When cloned, it was discovered to be a human homolog of the E. coli mismatch repair gene mutS, consistent with the characteristic alterations in microsatellite sequences (RER+ phenotype) found in HNPCC. | SP Function: involved in postreplication mismatch repair. binds specifically to dna containing mismatched nucleotides thus providing a target for the excision repair processes characteristic of postreplication mismatch repair. | Gene Ontology:
molecular function: molecular function: biological process: biological process: cellular component: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H000570_01
Name: CREB binding protein (Rubinstein-Taybi syndrome) |
Sum Func: | SP Function: acetyltransferase enzyme. acetylates histones, giving a specific tag for transcriptional activation. also acetylates non- histone proteins, like ncoa3 coactivator. mediates camp-gene regulation by binding specifically to phosphorylated creb protein. cbp, as coactivator, augments the activity of phosphorylated creb to activate transcription of camp-responsive genes. | Gene Ontology:
cellular component: molecular function: biological process: cellular component: molecular function: biological process: biological process: biological process: molecular function: biological process: molecular function: molecular function: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways:
1: Neurodegenerative Disorders 2: Cell cycle |
| Unique id : H000208_01
Name: Breast cancer 1, early onset |
Sum Func: BRCA1, which functions as a tumor suppressor in human breast cancer cells, is a nuclear phosphoprotein which associates with RNA polymerase II holoenzyme. Mutations in BRCA1 are predicted to be responsible for approximately 45% of inherited breast cancer and more than 80% of inherited breast and ovarian cancer. BRCA1 may function as a transcriptional regulator, due to an amino terminal DNA-binding ring finger motif, nuclear localization signals, and an acidic carboxy terminal domain. BRCA1 is also a granin-like protein that functions as a secreted growth inhibitory protein. BRCA1 may normally serve as a negative regulator of mammary epithelial cell growth. This function is compromised in breast cancer either by direct mutation or by alterations in gene expression. BRCA1 participates in transcription-coupled repair of oxidative DNA damage. BRCA1 spans an 81-kb region of human chromosome 17, and consists of 24 exons, 22 of which are coding exons. The BRCA1 genomic sequence has an unusually high density of Alu repetitive DNA (41.5%), but a relatively low density (4.8%) of other repetitive sequences. BRCA1 intron lengths ranged in size from 403 bp to 9.2 kb and contain 3 intragenic microsatellite markers located in introns 12, 19, and 20. Other genes have been localized close to BRCA1 on chromosome 17. The order of genes on the chromosome is: centromere-IFP35-VAT1-RHO7-BRCA1-M17S2-telomere. Alternative splicing may play a significant role in modulating the subcellular localization and physiological function of BRCA1. | SP Function: plays a central role in dna repair by facilitating cellular response to dna repair. required for appropriate cell cycle arrests after ionizing irradiation in both the s-phase and the g2 phase of the cell cycle. involved in transcriptional regulation of p21 in response to dna damage. may function as a transcriptional regulator. mediates e2-dependent ubiquitination. | Gene Ontology:
biological process: molecular function: cellular component: cellular component: cellular component: biological process: biological process: cellular component: biological process: molecular function: biological process: biological process: biological process: biological process: biological process: molecular function: cellular component: molecular function: molecular function: cellular component: molecular function: molecular function: molecular function: |
BioCarta Pathways:
1: ATM Signaling Pathway 2: Role of BRCA1, BRCA2 and ATR in Cancer Susceptibility 3: BRCA1-dependent Ub-ligase activity 4: CARM1 and Regulation of the Estrogen Receptor 5: Cell Cycle: G2/M Checkpoint |
KEGG Pathways: |
| Unique id : H002114_01
Name: Neurofibromin 2 (bilateral acoustic neuroma) |
Sum Func: This gene encodes a protein that is similar to some members of the ERM (ezrin, radixin, moesin) family of proteins that are thought to link cytoskeletal components with proteins in the cell membrane. This gene product has been shown to interact with cell-surface proteins, proteins involved in cytoskeletal dynamics and proteins involved in regulating ion transport. This gene is expressed at high levels during embryonic development; in adults, significant expression is found in Schwann cells, meningeal cells, lens and nerve. Mutations in this gene are associated with neurofibromatosis type II which is characterized by nervous system and skin tumors and ocular abnormalities. Two predominant isoforms and a number of minor isoforms are produced by alternatively spliced transcripts. | SP Function: probably acts as a membrane stabilizing protein. | Gene Ontology:
molecular function: cellular component: cellular component: biological process: biological process: biological process: cellular component: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002700_01
Name: Transforming growth factor, beta receptor I (activin A receptor type II-like kinase, 53kDa) |
Sum Func: | SP Function: type i/type ii tgf-beta receptors form an heteromeric complex after binding tgf-beta at the cell surface and act as signal transducers. | Gene Ontology:
molecular function: cellular component: biological process: molecular function: molecular function: biological process: molecular function: biological process: molecular function: |
BioCarta Pathways:
1: ALK in cardiac myocytes 2: MAP Kinase Signaling Pathway 3: NFkB activation by Nontypeable Hemophilus influenzae 4: p38 MAPK Signaling Pathway 5: Function of SLRP in Bone: An Integrated View 6: TGF beta signaling pathway |
KEGG Pathways: |
| Unique id : H002611_01
Name: Interferon regulatory factor 1 |
Sum Func: IRF1 encodes interferon regulatory factor 1, a member of the interferon regulatory transcription factor (IRF) family. IRF1 serves as an activator of interferons alpha and beta transcription, and in mouse it has been shown to be required for double-stranded RNA induction of these genes. IRF1 also functions as a transcription activator of genes induced by interferons alpha, beta, and gamma. Further, IRF1 has been shown to play roles in regulating apoptosis and tumor-suppression. | SP Function: specifically binds to the upstream regulatory region of type i ifn and ifn-inducible mhc class i genes (the interferon consensus sequence (ics)) and activates those genes. | Gene Ontology:
biological process: biological process: cellular component: biological process: molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H006635_01
Name: Adenomatosis polyposis coli |
Sum Func: This gene encodes a tumor suppressor protein that includes among its many intracellular functions one of nuclear export. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. | SP Function: tumor suppressor. promotes rapid degradation of ctnnb1 and participates in wnt signaling. apc activity is correlated with its phosphorylation state. | Gene Ontology:
biological process: molecular function: biological process: molecular function: biological process: biological process: biological process: |
BioCarta Pathways:
1: ALK in cardiac myocytes 2: Inactivation of Gsk3 by AKT causes accumulation of b-catenin in Alveolar Macrophages 3: Multi-step Regulation of Transcription by Pitx2 4: Presenilin action in Notch and Wnt signaling 5: TGF beta signaling pathway 6: WNT Signaling Pathway |
KEGG Pathways: |
| Unique id : H007492_01
Name: Cofilin 1 (non-muscle) |
Sum Func: Cofilin is a widely distributed intracellular actin-modulating protein that binds and depolymerizes filamentous F-actin and inhibits the polymerization of monomeric G-actin in a pH-dependent manner. It is involved in the translocation of actin-cofilin complex from cytoplasm to nucleus.[supplied by OMIM] | SP Function: controls reversibly actin polymerization and depolymerization in a ph-sensitive manner. it has the ability to bind g- and f-actin in a 1:1 ratio of cofilin to actin. it is the major component of intranuclear and cytoplasmic actin rods. | Gene Ontology:
biological process: molecular function: biological process: cellular component: cellular component: |
BioCarta Pathways:
1: CCR3 signaling in Eosinophils 2: Rac 1 cell motility signaling pathway 3: Rho cell motility signaling pathway |
KEGG Pathways: |
| Unique id : H003594_01
Name: Cyclin-dependent kinase inhibitor 1C (p57, Kip2) |
Sum Func: Cyclin-dependent kinase inhibitor 1C is a tight-binding inhibitor of several G1 cyclin/Cdk complexes and a negative regulator of cell proliferation. Mutations of CDKN1C are implicated in sporadic cancers and Beckwith-Wiedemann syndrome suggesting that it is a tumor suppressor candidate. | SP Function: potent tight-binding inhibitor of several g1 cyclin/cdk complexes (cyclin e-cdk2, cyclin d2-cdk4, and cyclin a-cdk2) and, to lesser extent, of the mitotic cyclin b-cdc2. negative regulator of cell proliferation. may play a role in maintenance of the nonproliferative state throughout life. | Gene Ontology:
biological process: biological process: biological process: molecular function: biological process: biological process: cellular component: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003151_01
Name: E1A binding protein p300 |
Sum Func: EP300 encodes the adenovirus E1A-associated cellular p300 transcriptional co-activator protein. p300 is related by sequence to CPB (CREB-binding protein [CREB: cyclic-AMP responsive element binding protein]), and like CPB can stimulate transcription through activation of CREB. This EP300 activity is specifically inhibited by the adenovirus oncoprotein E1A. EP300 has also been identified as a co-activator of HIF1A (hypoxia-inducible factor 1 alpha), and thus plays a role in the stimulation of hypoxia-induced genes such as VEGF. | SP Function: functions as histone acetyltransferase and regulates transcription via chromatin remodeling. acetylates all four core histones in nucleosomes. histone acetylation gives an epigenetic tag for transcriptional activation. binds to and may be involved in the transforming capacity of the adenovirus e1a protein. | Gene Ontology:
biological process: biological process: molecular function: biological process: biological process: cellular component: molecular function: biological process: biological process: biological process: molecular function: molecular function: biological process: molecular function: molecular function: |
BioCarta Pathways:
1: Acetylation and Deacetylation of RelA in The Nucleus 2: CARM1 and Regulation of the Estrogen Receptor 3: Transcription Regulation by Methyltransferase of CARM1 4: Cell Cycle: G2/M Checkpoint 5: Role of ERBB2 in Signal Transduction and Oncology 6: Hypoxia-Inducible Factor in the Cardiovascular System 7: IL-7 Signal Transduction 8: Role of MEF2D in T-cell Apoptosis 9: Melanocyte Development and Pigmentation Pathway 10: NFkB activation by Nontypeable Hemophilus influenzae 11: Hypoxia and p53 in the Cardiovascular system 12: Pelp1 Modulation of Estrogen Receptor Activity 13: Multi-step Regulation of Transcription by Pitx2 14: Mechanism of Gene Regulation by Peroxisome Proliferators via PPARa(alpha) 15: Role of PPAR-gamma Coactivators in Obesity and Thermogenesis 16: TGF beta signaling pathway 17: Control of Gene Expression by Vitamin D Receptor |
KEGG Pathways:
1: Neurodegenerative Disorders 2: Cell cycle |
| Unique id : H003596_01
Name: O-6-methylguanine-DNA methyltransferase |
Sum Func: | SP Function: involved in the cellular defense against the biological effects of o6-methylguanine (o6-meg) in DNA. repairs alkylated guanine in dna by stoichiometrically transferring the alkyl group at the o-6 position to a cysteine residue in the enzyme. this is a suicide reaction: the enzyme is irreversibly inactivated. | Gene Ontology:
molecular function: biological process: biological process: molecular function: molecular function: cellular component: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H000872_01
Name: ATP-binding cassette, sub-family C (CFTR/MRP), member 5 |
Sum Func: The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily which is involved in multi-drug resistance. This protein functions in the cellular export of its substrate, cyclic nucleotides. This export contributes to the degradation of phosphodiesterases and possibly an elimination pathway for cyclic nucleotides. Studies show that this protein provides resistance to thiopurine anticancer drugs, 6-mercatopurine and thioguanine, and the anti-HIV drug 9-(2-phosphonylmethoxyethyl)adenine. This protein may be involved in resistance to thiopurines in acute lymphoblastic leukemia and antiretroviral nucleoside analogs in HIV-infected patients. Alternative splicing of this gene has been detected; however, the complete sequence and translation initiation site is unclear. | SP Function: acts as a multispecific organic anion pump which can transport nucleotide analogs. | Gene Ontology:
molecular function: molecular function: molecular function: cellular component: cellular component: molecular function: molecular function: molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003606_01
Name: Retinoid X receptor, alpha |
Sum Func: Retinoid X receptors (RXRs) and retinoic acid receptors (RARs), are nuclear receptors that mediate the biological effects of retinoids by their involvement in retinoic acid-mediated gene activation. These receptors exert their action by binding, as homodimers or heterodimers, to specific sequences in the promoters of target genes and regulating their transcription. The protein encoded by this gene is a member of the steroid and thyroid hormone receptor superfamily of transcriptional regulators. | SP Function: nuclear hormone receptor. involved in the retinoic acid response pathway. binds 9-cis retinoic acid (9c-ra). arf6 acts as a key regulator of the tissue-specific adipocyte p2 (ap2) enhancer (by similarity). | Gene Ontology:
cellular component: biological process: molecular function: biological process: molecular function: molecular function: molecular function: molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H001848_01
Name: Glutathione S-transferase M1 |
Sum Func: Cytosolic and membrane-bound forms of glutathione S-transferase are encoded by two distinct supergene families. At present, eight distinct classes of the soluble cytoplasmic mammalian glutathione S-transferases have been identified: alpha, kappa, mu, omega, pi, sigma, theta and zeta. This gene encodes a glutathione S-transferase that belongs to the mu class. The mu class of enzymes functions in the detoxification of electrophilic compounds, including carcinogens, therapeutic drugs, environmental toxins and products of oxidative stress, by conjugation with glutathione. The genes encoding the mu class of enzymes are organized in a gene cluster on chromosome 1p13.3 and are known to be highly polymorphic. These genetic variations can change an individual’s susceptibility to carcinogens and toxins as well as affect the toxicity and efficacy of certain drugs. Null mutations of this class mu gene have been linked with an increase in a number of cancers, likely due to an increased susceptibility to environmental toxins and carcinogens. Multiple protein isoforms are encoded by transcript variants of this gene. | SP Function: conjugation of reduced glutathione to a wide number of exogenous and endogenous hydrophobic electrophiles. | Gene Ontology:
cellular component: molecular function: molecular function: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003283_01
Name: Topoisomerase (DNA) II alpha 170kDa |
Sum Func: This gene encodes a DNA topoisomerase, an enzyme that controls and alters the topologic states of DNA during transcription. This nuclear enzyme is involved in processes such as chromosome condensation, chromatid separation, and the relief of torsional stress that occurs during DNA transcription and replication. It catalyzes the transient breaking and rejoining of two strands of duplex DNA which allows the strands to pass through one another, thus altering the topology of DNA. Two forms of this enzyme exist as likely products of a gene duplication event. The gene encoding this form, alpha, is localized to chromosome 17 and the beta gene is localized to chromosome 3. The gene encoding this enzyme functions as the target for several anticancer agents and a variety of mutations in this gene have been associated with the development of drug resistance. Reduced activity of this enzyme may also play a role in ataxia-telangiectasia. | SP Function: control of topological states of dna by transient breakage and subsequent rejoining of dna strands. topoisomerase ii makes double-strand breaks. | Gene Ontology:
molecular function: molecular function: biological process: cellular component: |
BioCarta Pathways:
1: Apoptotic DNA fragmentation and tissue homeostasis |
KEGG Pathways: |
| Unique id : H002533_01
Name: ATP-binding cassette, sub-family C (CFTR/MRP), member 6 |
Sum Func: The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily which is involved in multi-drug resistance. This protein functions as a modulator of ATP-sensitive potassium channels and insulin release. Mutations and deficiencies in this protein have been observed in patients with hyperinsulinemic hypoglycemia of infancy, an autosomal recessive disorder of unregulated and high insulin secretion. Mutations have also been associated with non-insulin-dependent diabetes mellitus type II, an autosomal dominant disease of defective insulin secretion. Alternative splicing of this gene has been observed; however, the transcript variants have not yet been fully described. | SP Function: may participate directly in the active transport of drugs into subcellular organelles or influence drug distribution indirectly. transports glutathione conjugates as leukotriene-c4 (ltc4) and n-ethylmaleimide s-glutathione (nem-gs). | Gene Ontology:
molecular function: molecular function: molecular function: molecular function: molecular function: cellular component: cellular component: molecular function: cellular component: biological process: biological process: biological process: molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002424_01
Name: Bleomycin hydrolase |
Sum Func: Bleomycin hydrolase (BMH) is a cytoplasmic cysteine peptidase that is highly conserved through evolution; however, the only known activity of the enzyme is metabolic inactivation of the glycopeptide bleomycin (BLM), an essential component of combination chemotherapy regimens for cancer. The protein contains the signature active site residues of the cysteine protease papain superfamily. | SP Function: the normal physiological role of blm hydrolase is unknown, but it catalyzes the inactivation of the antitumor drug blm (a glycopeptide) by hydrolyzing the carboxamide bond of its b- aminoalaninamide moiety thus protecting normal and malignant cells from blm toxicity (by similarity). | Gene Ontology:
molecular function: molecular function: molecular function: cellular component: molecular function: cellular component: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H007820_01
Name: Topoisomerase (DNA) II beta 180kDa |
Sum Func: This gene encodes a DNA topoisomerase, an enzyme that controls and alters the topologic states of DNA during transcription. This nuclear enzyme is involved in processes such as chromosome condensation, chromatid separation, and the relief of torsional stress that occurs during DNA transcription and replication. It catalyzes the transient breaking and rejoining of two strands of duplex DNA which allows the strands to pass through one another, thus altering the topology of DNA. Two forms of this enzyme exist as likely products of a gene duplication event. The gene encoding this form, beta, is localized to chromosome 3 and the alpha form is localized to chromosome 17. The gene encoding this enzyme functions as the target for several anticancer agents and a variety of mutations in this gene have been associated with the development of drug resistance. Reduced activity of this enzyme may also play a role in ataxia-telangiectasia. Alternative splicing of this gene results in two transcript variants; however, the second variant has not yet been fully described. | SP Function: control of topological states of dna by transient breakage and subsequent rejoining of dna strands. topoisomerase ii makes double-strand breaks. | Gene Ontology:
molecular function: molecular function: biological process: cellular component: |
BioCarta Pathways:
1: Control of Gene Expression by Vitamin D Receptor |
KEGG Pathways: |
| Unique id : H003156_01
Name: V-rel reticuloendotheliosis viral oncogene homolog B, nuclear factor of kappa light polypeptide gene enhancer in B-cells 3 (avian) |
Sum Func: | SP Function: stimulates promoter activity in the presence of p49- and p50-nf-kappa-b. neither associates with dna nor with p65-nf-kappa- b. | Gene Ontology:
cellular component: molecular function: biological process: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H007892_01
Name: Cytochrome P450, family 2, subfamily C, polypeptide 19 |
Sum Func: This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and is known to metabolize many xenobiotics, including the anticonvulsive drug mephenytoin, omeprazole, diazepam and some barbiturates. Polymorphism within this gene is associated with variable ability to metabolize mephenytoin, known as the poor metabolizer and extensive metabolizer phenotypes. The gene is located within a cluster of cytochrome P450 genes on chromosome 10q24. | SP Function: responsible for the metabolism of a number of therapeutic agents such as the anticonvulsant drug s-mephenytoin, omeprazole, proguanil, certain barbiturates, diazepam, propranolol, citalopram and imipramine. | Gene Ontology:
molecular function: biological process: cellular component: cellular component: cellular component: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003713_01
Name: Topoisomerase (DNA) II beta 180kDa |
Sum Func: This gene encodes a DNA topoisomerase, an enzyme that controls and alters the topologic states of DNA during transcription. This nuclear enzyme is involved in processes such as chromosome condensation, chromatid separation, and the relief of torsional stress that occurs during DNA transcription and replication. It catalyzes the transient breaking and rejoining of two strands of duplex DNA which allows the strands to pass through one another, thus altering the topology of DNA. Two forms of this enzyme exist as likely products of a gene duplication event. The gene encoding this form, beta, is localized to chromosome 3 and the alpha form is localized to chromosome 17. The gene encoding this enzyme functions as the target for several anticancer agents and a variety of mutations in this gene have been associated with the development of drug resistance. Reduced activity of this enzyme may also play a role in ataxia-telangiectasia. Alternative splicing of this gene results in two transcript variants; however, the second variant has not yet been fully described. | SP Function: control of topological states of dna by transient breakage and subsequent rejoining of dna strands. topoisomerase ii makes double-strand breaks. | Gene Ontology:
molecular function: molecular function: biological process: cellular component: |
BioCarta Pathways:
1: Control of Gene Expression by Vitamin D Receptor |
KEGG Pathways: |
| Unique id : H003600_01
Name: Epoxide hydrolase 2, cytoplasmic |
Sum Func: This gene encodes a member of the epoxide hydrolase family. The protein, found in both the cytosol and peroxisomes, binds to specific epoxides and converts them to the corresponding dihydrodiols. Mutations in this gene have been associated with familial hypercholesterolemia. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. | SP Function: this enzyme acts on epoxides (alkene oxides, oxiranes) and arene oxides. plays a role in xenobiotic metabolism by degrading potential toxic epoxides. also determines steady-state levels of physiological mediators. | Gene Ontology:
biological process: biological process: cellular component: biological process: molecular function: molecular function: biological process: biological process: biological process: molecular function: biological process: biological process: cellular component: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003376_01
Name: Aryl hydrocarbon receptor nuclear translocator |
Sum Func: The aryl hydrocarbon (Ah) receptor is involved in the induction of several enzymes that participate in xenobiotic metabolism. The ligand-free, cytosolic form of the Ah receptor is complexed to heat shock protein 90. Binding of ligand, which includes dioxin and polycyclic aromatic hydrocarbons, results in translocation of the ligand-binding subunit only to the nucleus. Induction of enzymes involved in xenobiotic metabolism occurs through binding of the ligand-bound Ah receptor to xenobiotic responsive elements in the promoters of genes for these enzymes. This gene encodes a protein that forms a complex with the ligand-bound Ah receptor, and is required for receptor function. The encoded protein has also been identified as the beta subunit of a heterodimeric transcription factor, hypoxia-inducible factor 1 (HIF1). A t(1;12)(q21;p13) translocation, which results in a TEL-ARNT fusion protein, is associated with acute myeloblastic leukemia. Three alternatively spliced variants encoding different isoforms have been described for this gene. | SP Function: the heterodimer with hif1a or epas1/hif2a functions as a transcriptional regulator of the adaptive response to hypoxia. | Gene Ontology:
molecular function: cellular component: biological process: biological process: molecular function: biological process: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H014546_01
Name: Peptidylprolyl isomerase A (cyclophilin A) |
Sum Func: The protein encoded by this gene is a member of the peptidyl-prolyl cis-trans isomerase (PPIase) family. PPIases catalyze the cis-trans isomerization of proline imidic peptide bonds in oligopeptides and accelerate the folding of proteins. This protein is a cyclosporin binding-protein. It may play a role in cyclosporin A-mediated immunosuppression. This protein can interact with several HIV proteins including p55 gag, Vpr, and capsid protein. It has been shown to be necessary for the formation of infectious HIV virions. Multiple pseudogenes that map to different chromosomes have been reported. Three alternatively spliced transcript variants encoding two distinct isoforms have been observed. | SP Function: | Gene Ontology:
molecular function: molecular function: biological process: |
BioCarta Pathways:
1: IL-2 Receptor Beta Chain in T cell Activation |
KEGG Pathways: |
| Unique id : H003550_01
Name: Nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100) |
Sum Func: NFKB has been detected in numerous cell types that express cytokines, chemokines, growth factors, cell adhesion molecules, and some acute phase proteins in health and in various disease states. NFKB is activated by a wide variety of stimuli such as cytokines, oxidant-free radicals, inhaled particles, ultraviolet irradiation, and bacterial or viral products. Inappropriate activation of NF-kappa-B has been linked to inflammatory events associated with autoimmune arthritis, asthma, septic shock, lung fibrosis, glomerulonephritis, atherosclerosis, and AIDS. In contrast, complete and persistent inhibition of NF-kappa-B has been linked directly to apoptosis, inappropriate immune cell development, and delayed cell growth. For reviews, see Chen et al. (1999) [PubMed 9895331] and Baldwin (1996) [PubMed 8717528].[supplied by OMIM] | SP Function: appears to have dual functions such as cytoplasmic retention of attached nf-kappa-b proteins and generation of p52 by a cotranslational processing. the proteasome-mediated process ensures the production of both p52 and p100 and preserves their independent function. p52 binds to the kappa-b consensus sequence 5′-ggrnnyycc-3′, located in the enhancer region of genes involved in immune response and acute phase reactions. p52 and p100 are respectively the minor and major form; the processing of p100 being relatively poor. isoform p49 is a subunit of the nf-kappa-b protein complex, which stimulates the hiv enhancer in synergy with p65. | Gene Ontology:
biological process: cellular component: molecular function: biological process: biological process: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H001986_01
Name: Aryl hydrocarbon receptor |
Sum Func: Aryl hydrocarbon receptor is a ligand-activated transcription factor involved in the regulation of biological responses to planar aromatic hydrocarbons. AHR has been shown to regulate xenobiotic-metabolizing enzymes such as cytochrome P450. AHR ligands included a variety of aromatic hydrocarbons. | SP Function: ligand-activated transcriptional activator. binds to the xre promoter region of genes it activates. activates the expression of multiple phase i and ii xenobiotic chemical metabolizing enzyme genes (such as the cyp1a1 gene). mediates biochemical and toxic effects of halogenated aromatic hydrocarbons. involved in cell-cycle regulation. likely to play an important role in the development and maturation of many tissues. | Gene Ontology:
biological process: biological process: molecular function: cellular component: biological process: biological process: biological process: biological process: molecular function: biological process: |
BioCarta Pathways:
1: Ahr Signal Transduction Pathway |
KEGG Pathways: |
| Unique id : H003810_01
Name: Superoxide dismutase 1, soluble (amyotrophic lateral sclerosis 1 (adult)) |
Sum Func: The protein encoded by this gene binds copper and zinc ions and is one of two isozymes responsible for destroying free superoxide radicals in the body. The encoded isozyme is a soluble cytoplasmic protein, acting as a homodimer to convert naturally-occurring but harmful superoxide radicals to molecular oxygen and hydrogen peroxide. The other isozyme is a mitochondrial protein. Mutations in this gene have been implicated as causes of familial amyotrophic lateral sclerosis. Rare transcript variants have been reported for this gene. | SP Function: destroys radicals which are normally produced within the cells and which are toxic to biological systems. | Gene Ontology:
molecular function: molecular function: cellular component: molecular function: biological process: molecular function: biological process: biological process: |
BioCarta Pathways:
1: Cardiac Protection Against ROS 2: Free Radical Induced Apoptosis |
KEGG Pathways: |
| Unique id : H003242_01
Name: Excision repair cross-complementing rodent repair deficiency, complementation group 3 (xeroderma pigmentosum group B complementing) |
Sum Func: ERCC3 is an ATP-dependent DNA helicase that functions in nucleotide excision repair and complements xeroderma pigmentosum group B mutations. It also is the 89 kDa subunit of basal transcription factor 2 (TFIIH) and thus functions in class II transcription. | SP Function: atp-dependent 3′-5′ dna helicase, component of the core- tfiih basal transcription factor, involved in nucleotide excision repair (ner) of dna and, when complexed to cak, in rna transcription by rna polymerase ii. acts by opening dna either around the rna transcription start site or the dna damage. | Gene Ontology:
molecular function: molecular function: molecular function: biological process: molecular function: molecular function: molecular function: biological process: cellular component: biological process: molecular function: biological process: cellular component: biological process: biological process: |
BioCarta Pathways:
1: CARM1 and Regulation of the Estrogen Receptor 2: Chromatin Remodeling by hSWI/SNF ATP-dependent Complexes 3: Nuclear receptors coordinate the activities of chromatin remodeling complexes and coactivators to facilitate initiation of transcription in carcinoma cells |
KEGG Pathways: |
| Unique id : H003042_01
Name: BCL2-like 1 |
Sum Func: The protein encoded by this gene belongs to the BCL-2 protein family. BCL-2 family members form hetero- or homodimers and act as anti- or pro-apoptotic regulators that are involved in a wide variety of cellular activities. The proteins encoded by this gene are located at the outer mitochondrial membrane, and have been shown to regulate outer mitochondrial membrane channel (VDAC) opening. VDAC regulates mitochondrial membrane potential, and thus controls the production of reactive oxygen species and release of cytochrome C by mitochondria, both of which are the potent inducers of cell apoptosis. Two alternatively spliced transcript variants, which encode distinct isoforms, have been reported. The longer isoform acts as an apoptotic inhibitor and the shorter form acts as an apoptotic activator. | SP Function: potent inhibitor of cell death. isoform bcl-x(l) anti- apoptotic activity is inhibited by association with siva isoform 1. inhibits activation of caspases (by similarity). appears to regulate cell death by blocking the voltage-dependent anion channel (vdac) by binding to it and preventing the release of the caspase activator, cytochrome c, from the mitochondrial membrane. the bcl-x(s) isoform promotes apoptosis. | Gene Ontology:
biological process: biological process: cellular component: cellular component: cellular component: biological process: biological process: |
BioCarta Pathways:
1: Opposing roles of AIF in Apoptosis and Cell Survival 2: Regulation of BAD phosphorylation 3: Apoptotic Signaling in Response to DNA Damage 4: IL-2 Receptor Beta Chain in T cell Activation 5: Role of Mitochondria in Apoptotic Signaling 6: Ras Signaling Pathway |
KEGG Pathways: |
| Unique id : H003514_01
Name: Cytochrome P450, family 1, subfamily A, polypeptide 2 |
Sum Func: This gene, CYP1A2, encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. The protein encoded by this gene localizes to the endoplasmic reticulum and its expression is induced by some polycyclic aromatic hydrocarbons (PAHs), some of which are found in cigarette smoke. The enzyme’s endogenous substrate is unknown; however, it is able to metabolize some PAHs to carcinogenic intermediates. Other xenobiotic substrates for this enzyme include caffeine, aflatoxin B1, and acetaminophen. The transcript from this gene contains four Alu sequences flanked by direct repeats in the 3′ untranslated region. A related family member, CYP1A1, is located approximately 25 kb away from CYP1A2 on chromosome 15. | SP Function: cytochromes p450 are a group of heme-thiolate monooxygenases. in liver microsomes, this enzyme is involved in an nadph-dependent electron transport pathway. it oxidizes a variety of structurally unrelated compounds, including steroids, fatty acids, and xenobiotics. | Gene Ontology:
biological process: molecular function: cellular component: cellular component: cellular component: molecular function: molecular function: molecular function: |
BioCarta Pathways:
1: Mechanism of Acetaminophen Activity and Toxicity 2: Nuclear Receptors in Lipid Metabolism and Toxicity |
KEGG Pathways:
2: gamma-Hexachlorocyclohexane degradation |
| Unique id : H011468_01
Name: ATP-binding cassette, sub-family G (WHITE), member 2 |
Sum Func: The membrane-associated protein encoded by this gene is included in the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the White subfamily. Alternatively referred to as a breast cancer resistance protein, this protein functions as a xenobiotic transporter which may play a major role in multi-drug resistance. It likely serves as a cellular defense mechanism in response to mitoxantrone and anthracycline exposure. Significant expression of this protein has been observed in the placenta, which may suggest a potential role for this molecule in placenta tissue. | SP Function: | Gene Ontology:
molecular function: molecular function: cellular component: molecular function: biological process: biological process: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002577_01
Name: MutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli) |
Sum Func: This gene was identified as a locus frequently mutated in hereditary nonpolyposis colon cancer (HNPCC). It is a human homolog of the E. coli DNA mismatch repair gene mutL, consistent with the characteristic alterations in microsatellite sequences (RER+ phenotype) found in HNPCC. Alternatively spliced transcript variants encoding different isoforms have been described, but their full-length natures have not been determined. | SP Function: involved in the repair of mismatches in DNA. | Gene Ontology:
molecular function: biological process: biological process: cellular component: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003016_01
Name: Insulin-like growth factor 2 receptor |
Sum Func: CD222 is a 250kDa transmembrane protein with a short cytoplasmic tail containing an internalization signal. CD222 was originally identified as a receptor for IGFII and M6P-containing proteins (e.g. lysosomal hydrolases). Lysosomal enzymes are sorted to lysosomes via CD222 either from the Golgi, where the enzymes acquire M6P, or from the extracellular space. The majority of CD222 molecules (approximately 90-95%) are located intracellularly, only 5-10% is present on the cell membrane. The internalization rate seems to be enhanced by ligand induced dimerization of CD222 as well as by phosphorylation of its cytoplasmic serine. CD222 is also a receptor for TGFbeta latency associated peptide (LAP), proliferin and may bind several molecules independently of M6P, including plasminogen, CD87 or retinoic acid. It is involved in activation of latent TGFbeta [PROW] | SP Function: transport of phosphorylated lysosomal enzymes from the golgi complex and the cell surface to lysosomes. lysosomal enzymes bearing phosphomannosyl residues bind specifically to mannose-6- phosphate receptors in the golgi apparatus and the resulting receptor-ligand complex is transported to an acidic prelyosomal compartment where the low ph mediates the dissociation of the complex. this receptor also binds insulin growth factor ii. | Gene Ontology:
molecular function: cellular component: cellular component: molecular function: biological process: biological process: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002702_01
Name: Retinoic acid receptor, gamma |
Sum Func: | SP Function: this is a receptor for retinoic acid. this metabolite has profound effects on vertebrate development. retinoic acid is a morphogen and is a powerful teratogen. this receptor controls cells functions by directly regulating gene expression. | Gene Ontology:
biological process: cellular component: biological process: molecular function: molecular function: molecular function: |
BioCarta Pathways:
1: Nuclear Receptors in Lipid Metabolism and Toxicity |
KEGG Pathways: |
| Unique id : H002294_01
Name: ATP-binding cassette, sub-family C (CFTR/MRP), member 1 |
Sum Func: The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra-and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This full transporter is a member of the MRP subfamily which is involved in multi-drug resistance. This protein functions as a multispecific organic anion transporter, with oxidized glutatione, cysteinyl leukotrienes, and activated aflatoxin B1 as substrates. This protein also transports glucuronides and sulfate conjugates of steroid hormones and bile salts. Alternative splicing by exon deletion results in several splice variants but maintains the original open reading frame in all forms. | SP Function: may participate directly in the active transport of drugs into subcellular organelles or influence drug distribution indirectly. | Gene Ontology:
molecular function: molecular function: molecular function: molecular function: molecular function: cellular component: cellular component: cellular component: molecular function: biological process: molecular function: biological process: biological process: biological process: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002907_01
Name: Retinoic acid receptor, alpha |
Sum Func: | SP Function: nuclear receptor for retinoic acid. this metabolite has profound effects on vertebrate development. retinoic acid is a morphogen and is a powerful teratogen. this receptor controls cells functions by directly regulating gene expression. | Gene Ontology:
biological process: cellular component: biological process: molecular function: biological process: molecular function: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H000149_01
Name: Epoxide hydrolase 1, microsomal (xenobiotic) |
Sum Func: Epoxide hydrolase plays an important role in both the activation and detoxification of exogenous chemicals such as polycyclic aromatic hydrocarbons. | SP Function: biotransformation enzyme that catalyzes the hydrolysis of arene and aliphatic epoxides to less reactive and more water soluble dihydrodiols by the trans addition of water. | Gene Ontology:
biological process: cellular component: molecular function: molecular function: cellular component: cellular component: biological process: biological process: |
BioCarta Pathways:
1: Eicosanoid Metabolism |
KEGG Pathways: |
| Unique id : H001952_01
Name: Ribosomal protein L13a |
Sum Func: Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L13P family of ribosomal proteins. It is located in the cytoplasm. Transcript variants utilizing alternative polyA signals have been observed. This gene is co-transcribed with the small nucleolar RNA genes U32, U33, U34, and U35, which are located in its second, fourth, fifth, and sixth introns, respectively. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. | SP Function: | Gene Ontology:
cellular component: cellular component: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002777_01
Name: Cytochrome P450, family 2, subfamily E, polypeptide 1 |
Sum Func: This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and is induced by ethanol, the diabetic state, and starvation. The enzyme metabolizes both endogenous substrates, such as ethanol, acetone, and acetal, as well as exogenous substrates including benzene, carbon tetrachloride, ethylene glycol, and nitrosamines which are premutagens found in cigarette smoke. Due to its many substrates, this enzyme may be involved in such varied processes as gluconeogenesis, hepatic cirrhosis, diabetes, and cancer. | SP Function: metabolizes several precarcinogens, drugs, and solvents to reactive metabolites. | Gene Ontology:
biological process: cellular component: cellular component: cellular component: molecular function: molecular function: molecular function: |
BioCarta Pathways:
1: Mechanism of Acetaminophen Activity and Toxicity 2: Nuclear Receptors in Lipid Metabolism and Toxicity |
KEGG Pathways:
2: gamma-Hexachlorocyclohexane degradation |
| Unique id : H013267_01
Name: V-erb-b2 erythroblastic leukemia viral oncogene homolog 3 (avian) |
Sum Func: This gene encodes a member of the epidermal growth factor receptor (EGFR) family of receptor tyrosine kinases. This membrane-bound protein has a neuregulin binding domain but not an active kinase domain. It therefore can bind this ligand but not convey the signal into the cell through protein phosphorylation. However, it does form heterodimers with other EGF receptor family members which do have kinase activity. Heterodimerization leads to the activation of pathways which lead to cell proliferation or differentiation. Amplification of this gene and/or overexpression of its protein have been reported in numerous cancers, including prostate, bladder, and breast tumors. Alternate transcriptional splice variants encoding different isoforms have been characterized. One isoform lacks the intermembrane region and is secreted outside the cell. This form acts to modulate the activity of the membrane-bound form. Additional splice variants have also been reported, but they have not been thoroughly characterized. | SP Function: binds and is activated by neuregulins and ntak. | Gene Ontology:
molecular function: molecular function: cellular component: biological process: molecular function: molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H001853_01
Name: Cellular retinoic acid binding protein 1 |
Sum Func: A number of specific carrier proteins for members of the vitamin A family have been discovered. Cellular retinoic acid-binding protein is assumed to play an important role in retinoic acid-mediated differentiation and proliferation processes. CRABP1 is structurally similar to the cellular retinol-binding proteins, but binds only retinoic acid. CRABP1 is constitutively expressed and is believed to have different functions in the cell than the related CRABP2. | SP Function: cytosolic crabps may regulate the access of retinoic acid to the nuclear retinoic acid receptors. | Gene Ontology:
cellular component: biological process: molecular function: molecular function: biological process: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002094_01
Name: Thymidylate synthetase |
Sum Func: Thymidylate synthase (TYMS, or TS; EC 2.1.1.45) uses the 5,10-methylenetetrahydrofolate (methylene-THF) as a cofactor to maintain the dTMP (thymidine-5-prime monophosphate) pool critical for DNA replication and repair. The enzyme has been of interest as a target for cancer chemotherapeutic agents. It is considered to be the primary site of action for 5-fluorouracil, 5-fluoro-2-prime-deoxyuridine, and some folate analogs.[supplied by OMIM] | SP Function: | Gene Ontology:
biological process: biological process: molecular function: biological process: biological process: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002029_01
Name: V-erb-b2 erythroblastic leukemia viral oncogene homolog 3 (avian) |
Sum Func: This gene encodes a member of the epidermal growth factor receptor (EGFR) family of receptor tyrosine kinases. This membrane-bound protein has a neuregulin binding domain but not an active kinase domain. It therefore can bind this ligand but not convey the signal into the cell through protein phosphorylation. However, it does form heterodimers with other EGF receptor family members which do have kinase activity. Heterodimerization leads to the activation of pathways which lead to cell proliferation or differentiation. Amplification of this gene and/or overexpression of its protein have been reported in numerous cancers, including prostate, bladder, and breast tumors. Alternate transcriptional splice variants encoding different isoforms have been characterized. One isoform lacks the intermembrane region and is secreted outside the cell. This form acts to modulate the activity of the membrane-bound form. Additional splice variants have also been reported, but they have not been thoroughly characterized. | SP Function: binds and is activated by neuregulins and ntak. | Gene Ontology:
molecular function: molecular function: cellular component: biological process: molecular function: molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003482_01
Name: Catechol-O-methyltransferase |
Sum Func: Catechol-O-methyltransferase catalyzes the transfer of a methyl group from S-adenosylmethionine to catecholamines, including the neurotransmitters dopamine, epinephrine, and norepinephrine. This O-methylation results in one of the major degradative pathways of the catecholamine transmitters. In addition to its role in the metabolism of endogenous substances, COMT is important in the metabolism of catechol drugs used in the treatment of hypertension, asthma, and Parkinson disease. COMT is found in two forms in tissues, a soluble form (S-COMT) and a membrane-bound form (MB-COMT). The differences between S-COMT and MB-COMT reside within the N-termini. The transcript variants are formed through the use of alternative translation initiation sites and promoters. | SP Function: catalyzes the o-methylation, and thereby the inactivation, of catecholamine neurotransmitters and catechol hormones. also shortens the biological half-lives of certain neuroactive drugs, like l-dopa, alpha-methyl dopa and isoproterenol. | Gene Ontology:
molecular function: molecular function: biological process: cellular component: molecular function: cellular component: biological process: cellular component: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H000245_01
Name: Peroxisome proliferative activated receptor, gamma |
Sum Func: The protein encoded by this gene is a member of the peroxisome proliferator-activated receptor (PPAR) subfamily of nuclear receptors. PPARs form heterodimers with retinoid X receptors (RXRs) and these heterodimers regulate transcription of various genes. Three subtypes of PPARs are known: PPAR-alpha, PPAR-delta, and PPAR-gamma. The protein encoded by this gene is PPAR-gamma and is a regulator of adipocyte differentiation. Additionally, PPAR-gamma has been implicated in the pathology of numerous diseases including obesity, diabetes, atherosclerosis and cancer. Multiple transcript variants that use alternate promoters and splicing have been identified for this gene. At least three of these variants encode the same isoform. | SP Function: receptor that binds peroxisome proliferators such as hypolipidemic drugs and fatty acids. once activated by a ligand, the receptor binds to a promoter element in the gene for acyl-coa oxidase and activates its transcription. it therefore controls the peroxisomal beta-oxidation pathway of fatty acids. key regulator of adipocyte differentiation and glucose homeostasis. | Gene Ontology:
biological process: biological process: cellular component: biological process: biological process: biological process: molecular function: molecular function: biological process: |
BioCarta Pathways:
1: Nuclear Receptors in Lipid Metabolism and Toxicity 2: Basic mechanism of action of PPARa, PPARb(d) and PPARg and effects on gene expression 3: Role of PPAR-gamma Coactivators in Obesity and Thermogenesis 4: Visceral Fat Deposits and the Metabolic Syndrome |
KEGG Pathways: |
| Unique id : H003772_01
Name: Xeroderma pigmentosum, complementation group C |
Sum Func: | SP Function: involved in dna excision repair. may play a part in dna damage recognition and/or in altering chromatin structure to allow access by damage-processing enzymes. | Gene Ontology:
molecular function: biological process: cellular component: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003355_01
Name: Retinoid X receptor, gamma |
Sum Func: | SP Function: nuclear hormone receptor. involved in the retinoic acid response pathway. binds 9-cis retinoic acid (9c-ra). | Gene Ontology:
cellular component: biological process: molecular function: molecular function: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H001977_01
Name: ATP-binding cassette, sub-family C (CFTR/MRP), member 3 |
Sum Func: The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily which is involved in multi-drug resistance. The specific function of this protein has not yet been determined; however, this protein may play a role in the transport of biliary and intestinal excretion of organic anions. Alternative splicing of this gene results in three known transcript variants. | SP Function: may act as an inducible transporter in the biliary and intestinal excretion of organic anions. | Gene Ontology:
molecular function: molecular function: molecular function: molecular function: molecular function: cellular component: cellular component: cellular component: molecular function: biological process: biological process: molecular function: |
BioCarta Pathways:
1: Multi-Drug Resistance Factors 2: Nuclear Receptors in Lipid Metabolism and Toxicity |
KEGG Pathways: |
| Unique id : H002350_01
Name: Peroxisome proliferative activated receptor, alpha |
Sum Func: Peroxisome proliferators include hypolipidemic drugs, herbicides, leukotriene antagonists, and plasticizers; this term arises because they induce an increase in the size and number of peroxisomes. Peroxisomes are subcellular organelles found in plants and animals which contain enzymes for respiration and for cholesterol and lipid metabolism. The action of peroxisome proliferators is thought to be mediated via specific receptors, called PPARs, which belong to the steroid hormone receptor superfamily. PPARs affect the expression of target genes involved in cell proliferation, cell differentiation and in immune and inflammation responses. Three closely related subtypes (alpha, beta/delta, and gamma) have been identified. This gene encodes the subtype PPAR-alpha, which is a nuclear transcription factor. Multiple alternatively spliced transcript variants have been described for this gene, although the full-nature of only some have been defined. | SP Function: receptor that binds peroxisome proliferators such as hypolipidemic drugs and fatty acids. once activated by a ligand, the receptor binds to a promoter element in the gene for acyl-coa oxidase and activates its transcription. it therefore controls the peroxisomal beta-oxidation pathway of fatty acids. | Gene Ontology:
biological process: biological process: molecular function: cellular component: cellular component: biological process: molecular function: biological process: molecular function: molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003711_01
Name: Nuclear factor of kappa light polypeptide gene enhancer in B-cells 1 (p105) |
Sum Func: This gene encodes a 105 kD protein which can undergo cotranslational processing by the 26S proteasome to produce a 50 kD protein. The 105 kD protein is a Rel protein-specific transcription inhibitor and the 50 kD protein is a DNA binding subunit of the NF-kappa-B (NFKB) protein complex. NFKB is a transcription regulator that is activated by various intra- and extra-cellular stimuli such as cytokines, oxidant-free radicals, ultraviolet irradiation, and bacterial or viral products. Activated NFKB translocates into the nucleus and stimulates the expression of genes involved in a wide variety of biological functions. Inappropriate activation of NFKB has been associated with a number of inflammatory diseases while persistent inhibition of NFKB leads to inappropriate immune cell development or delayed cell growth. | SP Function: appears to have dual functions such as cytoplasmic retention of attached nf-kappa-b proteins and generation of p50 by a cotranslational processing. the proteasome-mediated process ensures the production of both p50 and p105 and preserves their independent function, although processing of nfkb1/p105 also appears to occur posttranslationally. p50 binds to the kappa-b consensus sequence 5′-ggrnnyycc-3′, located in the enhancer region of genes involved in immune response and acute phase reactions. play a role in the regulation of apoptosis. | Gene Ontology:
biological process: biological process: biological process: cellular component: biological process: cellular component: molecular function: biological process: biological process: biological process: molecular function: biological process: |
BioCarta Pathways:
1: The 4-1BB-dependent immune response 2: HIV-I Nef: negative effector of Fas and TNF 3: Acetylation and Deacetylation of RelA in The Nucleus 4: Influence of Ras and Rho proteins on G1 to S Transition 5: AKT Signaling Pathway 6: ATM Signaling Pathway 7: Role of EGF Receptor Transactivation by GPCRs in Cardiac Hypertrophy 8: CD40L Signaling Pathway 9: Cadmium induces DNA synthesis and proliferation in macrophages 10: Ceramide Signaling Pathway 11: CXCR4 Signaling Pathway 12: Induction of apoptosis through DR3 and DR4/5 Death Receptors 13: Erythropoietin mediated neuroprotection through NF-kB 14: fMLP induced chemokine gene expression in HMC-1 cells 15: Free Radical Induced Apoptosis 16: Corticosteroids and cardioprotection 17: Inactivation of Gsk3 by AKT causes accumulation of b-catenin in Alveolar Macrophages 18: Human Cytomegalovirus and Map Kinase Pathways 19: Signal transduction through IL1R 20: Keratinocyte Differentiation 21: MAP Kinase Signaling Pathway 22: NF-kB Signaling Pathway 23: NFkB activation by Nontypeable Hemophilus influenzae 24: The information-processing pathway at the IFN-beta enhancer 25: Activation of PKC through G protein coupled receptor 26: Bone Remodelling 27: Ras Signaling Pathway 28: Double Stranded RNA Induced Gene Expression 29: TNF/Stress Related Signaling 30: TACI and BCMA stimulation of B cell immune responses. 31: T Cell Receptor Signaling Pathway 32: Chaperones modulate interferon Signaling Pathway 33: TNFR2 Signaling Pathway 34: Toll-Like Receptor Pathway 35: Neuropeptides VIP and PACAP inhibit the apoptosis of activated T cells |
KEGG Pathways: |
| Unique id : H002373_01
Name: MutS homolog 3 (E. coli) |
Sum Func: | SP Function: not known. probable dna-repair protein. | Gene Ontology:
molecular function: molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H015889_01
Name: BCL2-like 1 |
Sum Func: The protein encoded by this gene belongs to the BCL-2 protein family. BCL-2 family members form hetero- or homodimers and act as anti- or pro-apoptotic regulators that are involved in a wide variety of cellular activities. The proteins encoded by this gene are located at the outer mitochondrial membrane, and have been shown to regulate outer mitochondrial membrane channel (VDAC) opening. VDAC regulates mitochondrial membrane potential, and thus controls the production of reactive oxygen species and release of cytochrome C by mitochondria, both of which are the potent inducers of cell apoptosis. Two alternatively spliced transcript variants, which encode distinct isoforms, have been reported. The longer isoform acts as an apoptotic inhibitor and the shorter form acts as an apoptotic activator. | SP Function: potent inhibitor of cell death. isoform bcl-x(l) anti- apoptotic activity is inhibited by association with siva isoform 1. inhibits activation of caspases (by similarity). appears to regulate cell death by blocking the voltage-dependent anion channel (vdac) by binding to it and preventing the release of the caspase activator, cytochrome c, from the mitochondrial membrane. the bcl-x(s) isoform promotes apoptosis. | Gene Ontology:
biological process: biological process: cellular component: cellular component: cellular component: biological process: biological process: |
BioCarta Pathways:
1: Opposing roles of AIF in Apoptosis and Cell Survival 2: Regulation of BAD phosphorylation 3: Apoptotic Signaling in Response to DNA Damage 4: IL-2 Receptor Beta Chain in T cell Activation 5: Role of Mitochondria in Apoptotic Signaling 6: Ras Signaling Pathway |
KEGG Pathways: |
| Unique id : H002420_01
Name: Promyelocytic leukemia |
Sum Func: The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. This phosphoprotein localizes to nuclear bodies where it functions as a transcription factor and tumor suppressor. Its expression is cell-cycle related and it regulates the p53 response to oncogenic signals. The gene is often involved in the translocation with the retinoic acid receptor alpha gene associated with acute promyelocytic leukemia (APL). Extensive alternative splicing of this gene results in several variations of the protein’s central and C-terminal regions; all variants encode the same N-terminus. Fourteen transcript variants for this gene have been described; however, the full length nature of three of the variants has not been determined. | SP Function: probable transcription factor. | Gene Ontology:
biological process: molecular function: cellular component: biological process: biological process: molecular function: molecular function: cellular component: molecular function: molecular function: molecular function: |
BioCarta Pathways:
1: Regulation of transcriptional activity by PML |
KEGG Pathways: |
| Unique id : H002049_01
Name: Death-associated protein 6 |
Sum Func: | SP Function: | Gene Ontology:
biological process: molecular function: cellular component: biological process: |
BioCarta Pathways:
1: HIV-I Nef: negative effector of Fas and TNF 2: FAS signaling pathway ( CD95 ) 3: Stress Induction of HSP Regulation 4: Keratinocyte Differentiation 5: MAP Kinase Signaling Pathway 6: p38 MAPK Signaling Pathway 7: Regulation of transcriptional activity by PML |
KEGG Pathways: |
| Unique id : H002506_01
Name: Tumor necrosis factor receptor superfamily, member 1B |
Sum Func: The protein encoded by this gene is a member of the TNF-receptor superfamily. This protein and TNF-receptor 1 form a heterocomplex that mediates the recruitment of two anti-apoptotic proteins, c-IAP1 and c-IAP2, which possess E3 ubiquitin ligase activity. The function of IAPs in TNF-receptor signalling is unknown, however, c-IAP1 is thought to potentiate TNF-induced apoptosis by the ubiquitination and degradation of TNF-receptor-associated factor 2, which mediates anti-apoptotic signals. Knockout studies in mice also suggest a role of this protein in protecting neurons from apoptosis by stimulating antioxidative pathways. | SP Function: receptor with high affinity for tnfsf2/tnf-alpha and approximately 5-fold lower affinity for homotrimeric tnfsf1/lymphotoxin-alpha. the traf1/traf2 complex recruits the apoptotic suppressors birc2 and birc3 to tnfrsf1b/tnfr2. this receptor mediates most of the metabolic effects of tnf-alpha. isoform 2 blocks tnf-alpha-induced apoptosis, which suggests that it regulates tnf-alpha function by antagonizing its biological activity. | Gene Ontology:
biological process: biological process: cellular component: molecular function: molecular function: |
BioCarta Pathways:
1: TNFR2 Signaling Pathway |
KEGG Pathways: |
| Unique id : H007835_01
Name: Sirtuin (silent mating type information regulation 2 homolog) 1 (S. cerevisiae) |
Sum Func: This gene encodes a member of the sirtuin family of proteins, homologs to the yeast Sir2 protein. Members of the sirtuin family are characterized by a sirtuin core domain and grouped into four classes. The functions of human sirtuins have not yet been determined; however, yeast sirtuin proteins are known to regulate epigenetic gene silencing and suppress recombination of rDNA. Studies suggest that the human sirtuins may function as intracellular regulatory proteins with mono-ADP-ribosyltransferase activity. The protein encoded by this gene is included in class I of the sirtuin family. | SP Function: | Gene Ontology:
molecular function: biological process: biological process: cellular component: molecular function: biological process: cellular component: biological process: |
BioCarta Pathways:
1: Regulation of transcriptional activity by PML |
KEGG Pathways: |
| Unique id : H000554_01
Name: Nuclear antigen Sp100 |
Sum Func: | SP Function: may play a role in the control of gene expression. | Gene Ontology:
molecular function: cellular component: cellular component: biological process: |
BioCarta Pathways:
1: Regulation of transcriptional activity by PML |
KEGG Pathways: |
| Unique id : H011186_01
Name: Growth factor receptor-bound protein 7 |
Sum Func: | SP Function: interacts with the cytoplasmic domain of the epidermal growth factor receptor which is then inhibited. the interaction is mediated by the sh2 domain. also binds to erbb2. | Gene Ontology:
molecular function: biological process: biological process: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H000928_01
Name: Epiregulin |
Sum Func: Epiregulin is a member of the epidermal growth factor family. Epiregulin can function as a ligand of EGFR (epidermal growth factor receptor), as well as a ligand of most members of the ERBB (v-erb-b2 oncogene homolog) family of tyrosine-kinase receptors. | SP Function: may be a mediator of localized cell proliferation. as a mitogen it may stimulate cell proliferation and/or angiogenesis. | Gene Ontology:
biological process: biological process: biological process: molecular function: biological process: cellular component: molecular function: cellular component: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H010696_01
Name: NCK adaptor protein 2 |
Sum Func: This gene encodes a member of the NCK family of adaptor proteins. The protein contains three SH3 domains and one SH2 domain. The protein has no known catalytic function but has been shown to bind and recruit various proteins involved in the regulation of receptor protein tyrosine kinases. It is through these regulatory activities that this protein is believed to be involved in cytoskeletal reorganization. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. | SP Function: adapter protein which associates with tyrosine- phosphorylated growth factor receptors or their cellular substrates. | Gene Ontology:
biological process: cellular component: molecular function: biological process: biological process: biological process: biological process: molecular function: molecular function: biological process: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H006546_01
Name: Src homology 2 domain containing transforming protein C3 |
Sum Func: | SP Function: | Gene Ontology: | BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002156_01
Name: Epidermal growth factor receptor pathway substrate 15 |
Sum Func: This gene encodes a protein that is part of the EGFR pathway. The protein is present at clathrin-coated pits and is involved in receptor-mediated endocytosis of EGF. Notably, this gene is rearranged with the HRX/ALL/MLL gene in acute myelogenous leukemias. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. | SP Function: involved in cell growth regulation. may be involved in the regulation of mitogenic signals and control of cell proliferation. involved in the internalization of ligand-inducible receptors of the receptor tyrosine kinase (rtk) type, in particular egfr (by similarity). | Gene Ontology:
molecular function: biological process: cellular component: biological process: biological process: |
BioCarta Pathways:
1: Endocytotic role of NDK, Phosphins and Dynamin |
KEGG Pathways: |
| Unique id : H002376_01
Name: Epidermal growth factor receptor pathway substrate 8 |
Sum Func: This gene encodes a member of the EPS8 family. This protein contains one PH domain and one SH3 domain. It functions as part of the EGFR pathway, though its exact role has not been determined. Highly similar proteins in other organisms are involved in the transduction of signals from Ras to Rac and growth factor-mediated actin remodeling. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. | SP Function: upon binding to egf receptor enhances egf-dependent mitogenic signals. can bind multiple cellular targets. | Gene Ontology:
molecular function: biological process: biological process: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002632_01
Name: GRB2-associated binding protein 1 |
Sum Func: The protein encoded by this gene is a member of the IRS1-like multisubstrate docking protein family. The encoded protein is an important mediator of branching tubulogenesis and plays a central role in cellular growth response, transformation and apoptosis. Two transcript variants encoding different isoforms have been found for this gene. | SP Function: | Gene Ontology:
molecular function: biological process: biological process: biological process: molecular function: |
BioCarta Pathways:
1: Signaling of Hepatocyte Growth Factor Receptor |
KEGG Pathways: |
| Unique id : H002088_01
Name: Prostaglandin E receptor 4 (subtype EP4) |
Sum Func: The protein encoded by this gene is a member of the G-protein coupled receptor family. This protein is one of four receptors identified for prostaglandin E2 (PGE2). This receptor can activate T-cell factor signaling. It has been shown to mediate PGE2 induced expression of early growth response 1 (EGR1), regulate the level and stability of cyclooxygenase-2 mRNA, and lead to the phosphorylation of glycogen synthase kinase-3. Knockout studies in mice suggest that this receptor may be involved in the neonatal adaptation of circulatory system, osteoporosis, as well as initiation of skin immune responses. | SP Function: receptor for prostaglandin e2 (pge2). the activity of this receptor is mediated by g(s) proteins that stimulate adenylate cyclase. has a relaxing effect on smooth muscle. may play an important role in regulating renal hemodynamics, intestinal epithelial transport, adrenal aldosterone secretion, and uterine function. | Gene Ontology:
biological process: biological process: biological process: cellular component: molecular function: molecular function: |
BioCarta Pathways:
1: Eicosanoid Metabolism |
KEGG Pathways: |
| Unique id : H004080_01
Name: Histamine receptor H3 |
Sum Func: Histamine is a ubiquitous messenger molecule released from mast cells, enterochromaffin-like cells, and neurons. Its various actions are mediated by histamine receptors H1, H2, H3 and H4. Histamine receptor H3 belongs to the family 1 of G protein-coupled receptors. It is an integral membrane protein and can regulate neurotransmitter release. This receptor can also increase voltage-dependent calcium current in smooth muscles and innervates the blood vessels and the heart in cardiovascular system. | SP Function: the h3 subclass of histamine receptors could mediate the histamine signals in cns and peripheral nervous system. signals through the inhibition of adenylate cyclase and displays high constitutive activity (spontaneous activity in the absence of agonist). agonist stimulation of isoform 3 neither modified adenylate cyclase activity nor induced intracellular calcium mobilization. | Gene Ontology:
biological process: molecular function: cellular component: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003668_01
Name: Histamine receptor H1 |
Sum Func: Histamine is a ubiquitous messenger molecule released from mast cells, enterochromaffin-like cells, and neurons. Its various actions are mediated by histamine receptors H1, H2, H3 and H4. This gene was thought to be intronless until recently. The protein encoded by this gene is an integral membrane protein and belongs to the family 1 of G protein-coupled receptors. It mediates the contraction of smooth muscles, increase in capillary permeability due to contraction of terminal venules, catecholamine release from adrenal medulla, and mediates neurotransmission in the central nervous system. | SP Function: in peripheral tissues, the h1 subclass of histamine receptors mediates the contraction of smooth muscles, increase in capillary permeability due to contraction of terminal venules, and catecholamine release from adrenal medulla, as well as mediating neurotransmission in the central nervous system. | Gene Ontology:
biological process: molecular function: biological process: cellular component: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002813_01
Name: 5-hydroxytryptamine (serotonin) receptor 7 (adenylate cyclase-coupled) |
Sum Func: The neurotransmitter, serotonin, is thought to play a role in various cognitive and behavioral functions. The serotonin receptor encoded by this gene belongs to the superfamily of G protein-coupled receptors and the gene is a candidate locus for involvement in autistic disorder and other neuropsychiatric disorders. Three splice variants have been identified which encode proteins that differ in the length of their carboxy terminal ends. | SP Function: this is one of the several different receptors for 5- hydroxytryptamine (serotonin), a biogenic hormone that functions as a neurotransmitter, a hormone, and a mitogen. the activity of this receptor is mediated by g proteins that stimulate adenylate cyclase. | Gene Ontology:
biological process: biological process: biological process: cellular component: molecular function: molecular function: molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002667_01
Name: Prostaglandin E receptor 1 (subtype EP1), 42kDa |
Sum Func: The protein encoded by this gene is a member of the G protein-coupled receptor family. This protein is one of four receptors identified for prostaglandin E2 (PGE2). Through a phosphatidylinositol-calcium second messenger system, G-Q proteins mediate this receptor’s activity. Knockout studies in mice suggested a role of this receptor in mediating algesia and in regulation of blood pressure. Studies in mice also suggested that this gene may mediate adrenocorticotropic hormone response to bacterial endotoxin. | SP Function: receptor for prostaglandin e2 (pge2). the activity of this receptor is mediated by g(q) proteins which activate a phosphatidylinositol-calcium second messenger system. may play a role as an important modulator of renal function. implicated the smooth muscle contractile response to pge2 in various tissues. | Gene Ontology:
biological process: cellular component: molecular function: molecular function: |
BioCarta Pathways:
1: Eicosanoid Metabolism 2: Phospholipase C-epsilon pathway |
KEGG Pathways: |
| Unique id : H003590_01
Name: Retinal G protein coupled receptor |
Sum Func: | SP Function: receptor for all-trans-and 11-cis-retinal. binds preferentially to the former and may catalyze the isomerization of the chromophore by a retinochrome-like mechanism. | Gene Ontology:
biological process: biological process: cellular component: cellular component: biological process: molecular function: molecular function: biological process: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002494_01
Name: Adrenergic, alpha-1B-, receptor |
Sum Func: Alpha-1-adrenergic receptors (alpha-1-ARs) are members of the G protein-coupled receptor superfamily. They activate mitogenic responses and regulate growth and proliferation of many cells. There are 3 alpha-1-AR subtypes: alpha-1A, -1B and -1D, all of which signal through the Gq/11 family of G-proteins and different subtypes show different patterns of activation. This gene encodes alpha-1B-adrenergic receptor, which induces neoplastic transformation when transfected into NIH 3T3 fibroblasts and other cell lines. Thus, this normal cellular gene is identified as a protooncogene. This gene comprises 2 exons and a single large intron of at least 20 kb that interrupts the coding region. | SP Function: this alpha-adrenergic receptor mediates its action by association with g proteins that activate a phosphatidylinositol- calcium second messenger system. | Gene Ontology:
biological process: biological process: molecular function: molecular function: biological process: biological process: biological process: cellular component: biological process: molecular function: |
BioCarta Pathways:
1: Phospholipase C d1 in phospholipid associated cell signaling |
KEGG Pathways: |
| Unique id : H002167_01
Name: Chemokine binding protein 2 |
Sum Func: This gene encodes a beta chemokine receptor, which is predicted to be a seven transmembrane protein similar to G protein-coupled receptors. Chemokines and their receptor-mediated signal transduction are critical for the recruitment of effector immune cells to the inflammation site. This gene is expressed in a range of tissues and hemopoietic cells. The expression of this receptor in lymphatic endothelial cells and overexpression in vascular tumors suggested its function in chemokine-driven recirculation of leukocytes and possible chemokine effects on the development and growth of vascular tumors. This receptor appears to bind the majority of beta-chemokine family members; however, its specific function remains unknown. This gene is mapped to chromosome 3p21.3, a region that includes a cluster of chemokine receptor genes. | SP Function: receptor for c-c type chemokines including scya2/mcp-1, scy3/mip-1-alpha, scya5/rantes and scya7/mcp-3. | Gene Ontology:
molecular function: biological process: biological process: biological process: biological process: cellular component: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002027_01
Name: Prostaglandin I2 (prostacyclin) receptor (IP) |
Sum Func: The protein encoded by this gene is a member of the G-protein coupled receptor family 1 and has been shown to be a receptor for prostacyclin. Prostacyclin, the major product of cyclooxygenase in macrovascular endothelium, elicits a potent vasodilation and inhibition of platelet aggregation through binding to this receptor. | SP Function: receptor for prostacyclin (prostaglandin i2 or pgi2). the activity of this receptor is mediated by g(s) proteins which activate adenylate cyclase. | Gene Ontology:
biological process: biological process: cellular component: molecular function: molecular function: molecular function: |
BioCarta Pathways:
1: Eicosanoid Metabolism |
KEGG Pathways: |
| Unique id : H003343_01
Name: Galanin receptor 1 |
Sum Func: The neuropeptide galanin elicits a range of biological effects by interaction with specific G-protein-coupled receptors. Galanin receptors are seven-transmembrane proteins shown to activate a variety of intracellular second-messenger pathways. GALR1 inhibits adenylyl cyclase via a G protein of the Gi/Go family. GALR1 is widely expressed in the brain and spinal cord, as well as in peripheral sites such as the small intestine and heart. | SP Function: receptor for the hormone galanin. the activity of this receptor is mediated by g proteins that inhibit adenylate cyclase activity. | Gene Ontology:
biological process: molecular function: cellular component: biological process: biological process: biological process: cellular component: molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002347_01
Name: Leukotriene B4 receptor |
Sum Func: | SP Function: receptor for extracellular atp > utp and adp. the activity of this receptor is mediated by g proteins which activate a phosphatidylinositol-calcium second messenger system. may be the cardiac p2y receptor involved in the regulation of cardiac muscle contraction through modulation of l-type calcium currents. is a receptor for leukotriene b4, a potent chemoattractant involved in inflammation and immune response. | Gene Ontology:
biological process: biological process: biological process: cellular component: molecular function: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003130_01
Name: Interleukin 8 receptor, beta |
Sum Func: The protein encoded by this gene is a member of the G-protein-coupled receptor family. This protein is a receptor for interleukin 8 (IL8). It binds to IL8 with high affinity, and transduces the signal through a G-protein activated second messenger system. This receptor also binds to chemokine (C-X-C motif) ligand 1 (CXCL1/MGSA), a protein with melanoma growth stimulating activity, and has been shown to be a major component required for serum-dependent melanoma cell growth. This receptor mediates neutrophil migration to sites of inflammation. The angiogenic effects of IL8 in intestinal microvascular endothelial cells are found to be mediated by this receptor. Knockout studies in mice suggested that this receptor controls the positioning of oligodendrocyte precursors in developing spinal cord by arresting their migration. This gene, IL8RA, a gene encoding another high affinity IL8 receptor, as well as IL8RBP, a pseudogene of IL8RB, form a gene cluster in a region mapped to chromosome 2q33-q36. | SP Function: receptor to interleukin-8, which is a powerful neutrophils chemotactic factor. binding of il-8 to the receptor causes activation of neutrophils. this response is mediated via a g-protein that activate a phosphatidylinositol-calcium second messenger system. this receptor binds to il-8 with a high affinity and to gro/mgsa and nap-2 also with a high affinity. | Gene Ontology:
biological process: biological process: biological process: biological process: biological process: cellular component: biological process: cellular component: molecular function: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002464_01
Name: Runt-related transcription factor 1 (acute myeloid leukemia 1; aml1 oncogene) |
Sum Func: Chemokines are a group of small (approximately 8 to 14 kD), mostly basic, structurally related molecules that regulate cell trafficking of various types of leukocytes through interactions with a subset of 7-transmembrane, G protein-coupled receptors. Chemokines also play fundamental roles in the development, homeostasis, and function of the immune system, and they have effects on cells of the central nervous system as well as on endothelial cells involved in angiogenesis or angiostasis. Chemokines are divided into 2 major subfamilies, CXC and CC, based on the arrangement of the first 2 of the 4 conserved cysteine residues; the 2 cysteines are separated by a single amino acid in CXC chemokines and are adjacent in CC chemokines. CCR10 is the receptor for CCL27 (SCYA27; MIM 604833); CCR10-CCL27 interactions are involved in T cell-mediated skin inflammation (Homey et al., 2002 [PubMed 11821900]).[supplied by OMIM] | SP Function: receptor for chemokines scya27 and scya28. subsequently transduces a signal by increasing the intracellular calcium ions level and stimulates chemotaxis in a pre-b cell line. | Gene Ontology:
molecular function: biological process: cellular component: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H006487_01
Name: Neuropeptide Y receptor Y6 (pseudogene) |
Sum Func: | SP Function: | Gene Ontology:
biological process: cellular component: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003428_01
Name: 5-hydroxytryptamine (serotonin) receptor 2A |
Sum Func: | SP Function: this is one of the several different receptors for 5- hydroxytryptamine (serotonin), a biogenic hormone that functions as a neurotransmitter, a hormone, and a mitogen. this receptor mediates its action by association with g proteins that activate a phosphatidylinositol-calcium second messenger system. this receptor is involved in tracheal smooth muscle contraction, bronchoconstriction, and control of aldosterone production. | Gene Ontology:
cellular component: molecular function: molecular function: biological process: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002592_01
Name: Opioid receptor, mu 1 |
Sum Func: | SP Function: inhibits neurotransmitter release by reducing calcium ion currents and increasing potassium ion conductance. receptor for beta-endorphin. | Gene Ontology:
biological process: biological process: cellular component: biological process: cellular component: cellular component: cellular component: molecular function: molecular function: biological process: molecular function: molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003745_01
Name: Neuropeptide Y receptor Y1 |
Sum Func: | SP Function: receptor for neuropeptide y and peptide yy. the rank order of affinity of this receptor for pancreatic polypeptides is npy > [pro-34] pyy, pyy and [leu-31, pro-34] npy > npy (2-36) > [ile-31, gln-34] pp and pyy (3-36) > pp > npy free acid. | Gene Ontology:
biological process: biological process: biological process: cellular component: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002332_01
Name: Bradykinin receptor B2 |
Sum Func: This gene encodes a receptor for bradykinin. The 9 aa bradykinin peptide elicits many responses including vasodilation, edema, smooth muscle spasm and pain fiber stimulation. This receptor associates with G proteins that stimulate a phosphatidylinositol-calcium second messenger system. Alternate start codons result in two isoforms of the protein. | SP Function: receptor for bradykinin. it is associated with g proteins that activate a phosphatidylinositol-calcium second messenger system. | Gene Ontology:
biological process: molecular function: biological process: biological process: biological process: cellular component: molecular function: molecular function: biological process: biological process: biological process: |
BioCarta Pathways:
1: Actions of Nitric Oxide in the Heart |
KEGG Pathways: |
| Unique id : H003670_01
Name: Adrenergic, beta-1-, receptor |
Sum Func: The adrenergic receptors (subtypes alpha 1, alpha 2, beta 1, and beta 2) are a prototypic family of guanine nucleotide binding regulatory protein-coupled receptors that mediate the physiological effects of the hormone epinephrine and the neurotransmitter norepinephrine. | SP Function: beta-adrenergic receptors mediate the catecholamine- induced activation of adenylate cyclase through the action of g proteins. this receptor binds epinephrine and norepinephrine with approximatively equal affinity. | Gene Ontology:
biological process: biological process: molecular function: cellular component: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002366_01
Name: Chemokine (C-C motif) receptor 9 |
Sum Func: The protein encoded by this gene is a member of the beta chemokine receptor family. It is predicted to be a seven transmembrane protein similar to G protein-coupled receptors. Chemokines and their receptors are key regulators of the thymocytes migration and maturation in normal and inflammation conditions. The specific ligand of this receptor is CCL25. It has been found that this gene is differentially expressed by T lymphocytes of small intestine and colon, suggested a role in the thymocytes recruitment and development that may permit functional specialization of immune responses in different segment of the gastrointestinal tract. This gene is mapped to the chemokine receptor gene cluster region. Two alternatively spliced transcript variants have been described. | SP Function: receptor for chemokine scya25/teck. subsequently transduces a signal by increasing the intracellular calcium ions level. alternative coreceptor with cd4 for hiv-1 infection. | Gene Ontology:
molecular function: biological process: biological process: biological process: biological process: biological process: cellular component: cellular component: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002585_01
Name: G protein-coupled receptor 17 |
Sum Func: | SP Function: putative receptor for purines coupled to g-proteins (by similarity). | Gene Ontology:
biological process: molecular function: cellular component: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002758_01
Name: Chemokine-like receptor 1 |
Sum Func: | SP Function: orphan receptor. could be a chemotactic peptide receptor. may have a function in bone metabolism. acts as a coreceptor for several siv strains (sivmac316, sivmac239, sivmacl7e-fr and sivsm62a), as well as a primary hiv-1 strain (92ug024-2). | Gene Ontology:
molecular function: biological process: molecular function: biological process: biological process: cellular component: molecular function: molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003899_01
Name: Chemokine (C-C motif) receptor 1 |
Sum Func: This gene encodes a member of the beta chemokine receptor family, which is predicted to be a seven transmembrane protein similar to G protein-coupled receptors. The ligands of this receptor include macrophage inflammatory protein 1 alpha (MIP-1 alpha), regulated on activation normal T expressed and secreted protein (RANTES), monocyte chemoattractant protein 3 (MCP-3), and myeloid progenitor inhibitory factor-1 (MPIF-1). Chemokines and their receptors mediated signal transduction are critical for the recruitment of effector immune cells to the site of inflammation. Knockout studies of the mouse homolog suggested the roles of this gene in host protection from inflammatory response, and susceptibility to virus and parasite. This gene and other chemokine receptor genes, including CCR2, CCRL2, CCR3, CCR5 and CCXCR1, are found to form a gene cluster on chromosome 3p. | SP Function: receptor for a c-c type chemokine. binds to mip-1-alpha, mip-1-delta, rantes, and mcp-3 and, less efficiently, to mip-1- beta or mcp-1 and subsequently transduces a signal by increasing the intracellular calcium ions level. responsible for affecting stem cell proliferation. | Gene Ontology:
molecular function: biological process: biological process: biological process: biological process: biological process: biological process: biological process: cellular component: molecular function: |
BioCarta Pathways:
1: Selective expression of chemokine receptors during T-cell polarization |
KEGG Pathways: |
| Unique id : H002321_01
Name: G protein-coupled receptor 30 |
Sum Func: | SP Function: orphan receptor; possibly for a chemokine. | Gene Ontology:
biological process: cellular component: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H015702_01
Name: G protein-coupled receptor 44 |
Sum Func: G protein-coupled receptors (GPCRs), such as GPR44, are integral membrane proteins containing 7 putative transmembrane domains (TMs). These proteins mediate signals to the interior of the cell via activation of heterotrimeric G proteins that in turn activate various effector proteins, ultimately resulting in a physiologic response.[supplied by OMIM] | SP Function: orphan receptor. | Gene Ontology:
biological process: molecular function: biological process: cellular component: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002567_01
Name: Thyroid stimulating hormone receptor |
Sum Func: | SP Function: receptor for thyrotropin. plays a central role in controlling thyroid cell metabolism. the activity of this receptor is mediated by g proteins which activate adenylate cyclase. also acts as a receptor for thyrostimulin (gpa2+gpb5). | Gene Ontology:
biological process: biological process: cellular component: cellular component: biological process: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002097_01
Name: Dopamine receptor D2 |
Sum Func: This gene encodes the D2 subtype of the dopamine receptor. This G-protein coupled receptor inhibits adenylyl cyclase activity. A missense mutation in this gene causes myoclonus dystonia; other mutations have been associated with schizophrenia. Alternative splicing of this gene results in two transcript variants encoding different isoforms. A third variant has been described, but it has not been determined whether this form is normal or due to aberrant splicing. | SP Function: this is one of the five types (d1 to d5) of receptors for dopamine. the activity of this receptor is mediated by g proteins which inhibit adenylyl cyclase. | Gene Ontology:
molecular function: biological process: cellular component: cellular component: biological process: molecular function: biological process: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002110_01
Name: Coagulation factor II (thrombin) receptor |
Sum Func: Coagulation factor II receptor is a 7-transmembrane receptor involved in the regulation of thrombotic response. Proteolytic cleavage leads to the activation of the receptor. F2R is a G-protein coupled receptor family member. | SP Function: high affinity receptor for activated thrombin coupled to g proteins that stimulate phosphoinositide hydrolysis. may play a role in platelets activation and in vascular development. | Gene Ontology:
biological process: cellular component: biological process: biological process: biological process: biological process: biological process: cellular component: biological process: biological process: molecular function: biological process: biological process: molecular function: biological process: molecular function: biological process: |
BioCarta Pathways:
1: Acute Myocardial Infarction 2: Extrinsic Prothrombin Activation Pathway 3: Fibrinolysis Pathway 4: Intrinsic Prothrombin Activation Pathway |
KEGG Pathways: |
| Unique id : H002476_01
Name: Chemokine (C-C motif) receptor 5 |
Sum Func: This gene encodes a member of the beta chemokine receptor family, which is predicted to be a seven transmembrane protein similar to G protein-coupled receptors. This protein is expressed by T cells and macrophages, and is known to be an important co-receptor for macrophage-tropic virus, including HIV, to enter host cells. Defective alleles of this gene have been associated with the HIV infection resistance. The ligands of this receptor include monocyte chemoattractant protein 2 (MCP-2), macrophage inflammatory protein 1 alpha (MIP-1 alpha), macrophage inflammatory protein 1 beta (MIP-1 beta) and regulated on activation normal T expressed and secreted protein (RANTES). Expression of this gene was also detected in a promyeloblastic cell line, suggesting that this protein may play a role in granulocyte lineage proliferation and differentiation. This gene is located at the chemokine receptor gene cluster region. | SP Function: receptor for a c-c type chemokine. binds to mip-1-alpha, mip-1-beta and rantes and subsequently transduces a signal by increasing the intracellular calcium ions level. may play a role in the control of granulocytic lineage proliferation or differentiation. acts as coreceptor with cd4 for primary non- syncytium-inducing strains (nsi) (macrophage-tropic) of hiv-1 virus. it promotes env-mediated fusion of the virus. | Gene Ontology:
molecular function: molecular function: biological process: biological process: biological process: biological process: biological process: molecular function: biological process: cellular component: biological process: cellular component: cellular component: molecular function: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H015524_01
Name: Adenosine A3 receptor |
Sum Func: There are 3 types of adenosine receptors, each of which contains 7 transmembrane domains and interacts with G proteins. The A1 receptors inhibit adenylate cyclase while the type A2 receptors stimulate activity. Each adenosine receptor has a specific pattern of ligand binding and a unique tissue distribution. Adenosine released during cardiac ischemia exerts a potent, protective effect in the heart. The adenosine A3 receptor is expressed on cardiac ventricular cells, and its activation protects the ventricular heart cell against injury during a subsequent exposure to ischemia. | SP Function: receptor for adenosine. the activity of this receptor is mediated by g proteins which inhibits adenylyl cyclase. possible role in reproduction. | Gene Ontology:
molecular function: biological process: biological process: biological process: cellular component: biological process: molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002454_01
Name: Follicle stimulating hormone receptor |
Sum Func: The protein encoded by this gene belongs to family 1 of G-protein coupled receptors. It is the receptor for follicle stimulating hormone and functions in gonad development. Alternative splicing occurs at this locus and two transcript variants encoding distinct isoforms have been identified. | SP Function: receptor for follicle stimulating hormone. the activity of this receptor is mediated by g proteins which activate adenylate cyclase. | Gene Ontology:
biological process: biological process: biological process: biological process: molecular function: molecular function: cellular component: cellular component: cellular component: biological process: |
BioCarta Pathways:
1: Regulation of Spermatogenesis by CREM |
KEGG Pathways: |
| Unique id : H002487_01
Name: Complement component 5 receptor 1 (C5a ligand) |
Sum Func: | SP Function: receptor for the chemotactic and inflammatory peptide anaphylatoxin c5a. this receptor stimulates chemotaxis, granule enzyme release and superoxide anion production. | Gene Ontology:
molecular function: biological process: biological process: biological process: biological process: biological process: cellular component: biological process: molecular function: biological process: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H000667_01
Name: Purinergic receptor P2Y, G-protein coupled, 5 |
Sum Func: The protein encoded by this gene belongs to the family of G-protein coupled receptors, that are preferentially activated by adenosine and uridine nucleotides. This gene aligns with an internal intron of the retinoblastoma susceptibility gene in the reverse orientation. | SP Function: | Gene Ontology:
biological process: cellular component: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H009013_01
Name: Dopamine receptor D2 |
Sum Func: This gene encodes the D2 subtype of the dopamine receptor. This G-protein coupled receptor inhibits adenylyl cyclase activity. A missense mutation in this gene causes myoclonus dystonia; other mutations have been associated with schizophrenia. Alternative splicing of this gene results in two transcript variants encoding different isoforms. A third variant has been described, but it has not been determined whether this form is normal or due to aberrant splicing. | SP Function: this is one of the five types (d1 to d5) of receptors for dopamine. the activity of this receptor is mediated by g proteins which inhibit adenylyl cyclase. | Gene Ontology:
molecular function: biological process: cellular component: cellular component: biological process: molecular function: biological process: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003535_01
Name: Galanin receptor 3 |
Sum Func: The neuropeptide galanin modulates a variety of physiologic processes including cognition/memory, sensory/pain processing, hormone secretion, and feeding behavior. The human galanin receptors are G protein-coupled receptors that functionally couple to their intracellular effector through distinct signaling pathways. GALR3 is found in many tissues and may be expressed as 1.4-, 2.4-, and 5-kb transcripts | SP Function: receptor for the hormone galanin. | Gene Ontology:
biological process: molecular function: cellular component: biological process: biological process: biological process: cellular component: molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003381_01
Name: Melatonin receptor 1A |
Sum Func: This gene encodes one of two high affinity forms of a receptor for melatonin, the primary hormone secreted by the pineal gland. This receptor is a G-protein coupled, 7-transmembrane receptor that is responsible for melatonin effects on mammalian circadian rhythm and reproductive alterations affected by day length. The receptor is an integral membrane protein that is readily detectable and localized to two specific regions of the brain. The hypothalamic suprachiasmatic nucleus appears to be involved in circadian rhythm while the hypophysial pars tuberalis may be responsible for the reproductive effects of melatonin. | SP Function: high affinity receptor for melatonin. likely to mediates the reproductive and circadian actions of melatonin. the activity of this receptor is mediated by pertussis toxin sensitive g proteins that inhibit adenylate cyclase activity. | Gene Ontology:
biological process: biological process: cellular component: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H015755_01
Name: Chemokine (C-C motif) receptor 1 |
Sum Func: This gene encodes a member of the beta chemokine receptor family, which is predicted to be a seven transmembrane protein similar to G protein-coupled receptors. The ligands of this receptor include macrophage inflammatory protein 1 alpha (MIP-1 alpha), regulated on activation normal T expressed and secreted protein (RANTES), monocyte chemoattractant protein 3 (MCP-3), and myeloid progenitor inhibitory factor-1 (MPIF-1). Chemokines and their receptors mediated signal transduction are critical for the recruitment of effector immune cells to the site of inflammation. Knockout studies of the mouse homolog suggested the roles of this gene in host protection from inflammatory response, and susceptibility to virus and parasite. This gene and other chemokine receptor genes, including CCR2, CCRL2, CCR3, CCR5 and CCXCR1, are found to form a gene cluster on chromosome 3p. | SP Function: receptor for a c-c type chemokine. binds to mip-1-alpha, mip-1-delta, rantes, and mcp-3 and, less efficiently, to mip-1- beta or mcp-1 and subsequently transduces a signal by increasing the intracellular calcium ions level. responsible for affecting stem cell proliferation. | Gene Ontology:
molecular function: biological process: biological process: biological process: biological process: biological process: biological process: biological process: cellular component: molecular function: |
BioCarta Pathways:
1: Selective expression of chemokine receptors during T-cell polarization |
KEGG Pathways: |
| Unique id : H006918_01
Name: G protein-coupled receptor 74 |
Sum Func: | SP Function: receptor for npaf (a-18-f-amide) and npff (f-8-f-amide) neuropeptides, also known as morphine-modulating peptides. can also be activated by a variety of naturally occurring or synthetic fmrf-amide like ligands. this receptor mediates its action by association with g proteins that activate a phosphatidylinositol- calcium second messenger system. | Gene Ontology:
biological process: biological process: biological process: cellular component: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002976_01
Name: Chemokine (C-X-C motif) receptor 3 |
Sum Func: CD183 is a G protein-coupled receptor with selectivity for three chemokines, termed IP10 (interferon-g-inducible 10 kDa protein), Mig (monokine induced by interferon-g) and I-TAC (interferon-inducible T cell a-chemoattractant). IP10, Mig and I-TAC belong to the structural subfamily of CXC chemokines, in which a single amino acid residue separates the first two of four highly conserved Cys residues. Historically, CD183 is the third CXC chemokine receptor discovered and, therefore, commonly designated as CXCR3. Binding of chemokines to CD183 induces cellular responses that are involved in leukocyte traffic, most notably integrin activation, cytoskeletal changes and chemotactic migration. Inhibition by Bordetella pertussis toxin suggests that heterotrimeric G protein of the Gi-subclass couple to CD183. Signal transduction has not been further analyzed but may include the same enzymes that were identified in the signaling cascade induced by other chemokine receptors. As a consequence of chemokine-induced cellular desensitization (phosphorylation-dependent receptor internalization), cellular responses are typically rapid and short in duration. Cellular responsiveness is restored after dephosphorylation of intracellular receptors and subsequent recycling to the cell surface. A hallmark of CD183 is its prominent expression in in vitro cultured effector/memory T cells, and in T cells present in many types of inflamed tissues. In addition, IP10, Mig and I-TAC are commonly produced by local cells in inflammatory lesion, suggesting that CD183 and its chemokines participate in the recruitment of inflammatory cells. Therefore, CD183 is a target for the development of small molecular weight antagonists, which may be used in the treatment of diverse inflammatory diseases. [PROW] | SP Function: receptor for scyb9/mig, scyb10/inp10 and scyb11/itac. | Gene Ontology:
molecular function: molecular function: biological process: biological process: biological process: biological process: biological process: cellular component: biological process: cellular component: molecular function: |
BioCarta Pathways:
1: IL12 and Stat4 Dependent Signaling Pathway in Th1 Development 2: mCalpain and friends in Cell motility 3: Selective expression of chemokine receptors during T-cell polarization 4: NO2-dependent IL 12 Pathway in NK cells |
KEGG Pathways: |
| Unique id : H002698_01
Name: Adrenergic, beta-3-, receptor |
Sum Func: The ADRB3 gene product, beta-3-adrenergic receptor, is located mainly in adipose tissue and is involved in the regulation of lipolysis and thermogenesis. Beta adrenergic receptors are involved in the epinephrine and norepinephrine-induced activation of adenylate cyclase through the action of G proteins. | SP Function: beta-adrenergic receptors mediate the catecholamine- induced activation of adenylate cyclase through the action of g proteins. beta-3 is involved in the regulation of lipolysis and thermogenesis. | Gene Ontology:
biological process: molecular function: biological process: biological process: biological process: cellular component: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H010325_01
Name: Chemokine (C-C motif) receptor-like 2 |
Sum Func: This gene encodes a chemokine receptor like protein, which is predicted to be a seven transmembrane protein and most closely related to CCR1. Chemokines and their receptors mediated signal transduction are critical for the recruitment of effector immune cells to the site of inflammation. This gene is expressed at high levels in primary neutrophils and primary monocytes, and is further upregulated on neutrophil activation and during monocyte to macrophage differentiation. The function of this gene is unknown. This gene is mapped to the region where the chemokine receptor gene cluster is located. | SP Function: | Gene Ontology:
molecular function: biological process: cellular component: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002378_01
Name: Adrenergic, alpha-2C-, receptor |
Sum Func: Alpha-2-adrenergic receptors are members of the G protein-coupled receptor superfamily. They include 3 highly homologous subtypes: alpha2A, alpha2B, and alpha2C. These receptors have a critical role in regulating neurotransmitter release from sympathetic nerves and from adrenergic neurons in the central nervous system. The mouse studies revealed that both the alpha2A and alpha2C subtypes were required for normal presynaptic control of transmitter release from sympathetic nerves in the heart and from central noradrenergic neurons. The alpha2A subtype inhibited transmitter release at high stimulation frequencies, whereas the alpha2C subtype modulated neurotransmission at lower levels of nerve activity. This gene encodes the alpha2C subtype, which contains no introns in either its coding or untranslated sequences. | SP Function: alpha-2 adrenergic receptors mediate the catecholamine- induced inhibition of adenylate cyclase through the action of g proteins. | Gene Ontology:
biological process: biological process: molecular function: molecular function: biological process: biological process: cellular component: cellular component: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003577_01
Name: Adrenergic, alpha-1A-, receptor |
Sum Func: Alpha-1-adrenergic receptors (alpha-1-ARs) are members of the G protein-coupled receptor superfamily. They activate mitogenic responses and regulate growth and proliferation of many cells. There are 3 alpha-1-AR subtypes: alpha-1A, -1B and -1D, all of which signal through the Gq/11 family of G-proteins and different subtypes show different patterns of activation. This gene encodes alpha-1A-adrenergic receptor. Alternative splicing of this gene generates 4 transcript variants, which encode 4 different isoforms with distinct C termini but having similar ligand binding properties. | SP Function: this alpha-adrenergic receptor mediates its action by association with g proteins that activate a phosphatidylinositol- calcium second messenger system. its effect is mediated by g(q) and g(11) proteins. | Gene Ontology:
biological process: molecular function: molecular function: biological process: biological process: cellular component: biological process: biological process: molecular function: biological process: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003424_01
Name: Chemokine (C-C motif) receptor 3 |
Sum Func: The protein encoded by this gene is a receptor for C-C type chemokines. It belongs to family 1 of the G protein-coupled receptors. This receptor binds and responds to a variety of chemokines, including eotaxin (CCL11), eotaxin-3 (CCL26), MCP-3 (CCL7), MCP-4 (CCL13), and RANTES (CCL5). It is highly expressed in eosinophils and basophils, and is also detected in TH1 and TH2 cells, as well as in airway epithelial cells. This receptor may contribute to the accumulation and activation of eosinophils and other inflammatory cells in the allergic airway. It is also known to be an entry co-receptor for HIV-1. This gene and seven other chemokine receptor genes form a chemokine receptor gene cluster on the chromosomal region 3p21. Alternatively spliced transcript variants encoding the same protein have been described. | SP Function: receptor for a c-c type chemokine. binds to eotaxin, eotaxin-3, mcp-3, mcp-4, rantes and mip-1 delta. subsequently transduces a signal by increasing the intracellular calcium ions level. alternative coreceptor with cd4 for hiv-1 infection. | Gene Ontology:
molecular function: biological process: biological process: biological process: biological process: biological process: biological process: biological process: cellular component: molecular function: |
BioCarta Pathways:
1: CCR3 signaling in Eosinophils 2: The Role of Eosinophils in the Chemokine Network of Allergy 3: IL 5 Signaling Pathway 4: Selective expression of chemokine receptors during T-cell polarization |
KEGG Pathways: |
| Unique id : H007948_01
Name: F-box and WD-40 domain protein 2 |
Sum Func: F-box proteins are an expanding family of eukaryotic proteins characterized by an approximately 40 amino acid motif, the F box. Some F-box proteins have been shown to be critical for the ubiquitin-mediated degradation of cellular regulatory proteins. In fact, F-box proteins are one of the four subunits of ubiquitin protein ligases, called SCFs. SCF ligases bring ubiquitin conjugating enzymes to substrates that are specifically recruited by the different F-box proteins. A large family of mammalian F-box proteins has recently been identified and classified into three groups based on the presence of either the WD-40 repeats, the leucine-rich repeats, or the presence or absence of other protein-protein interacting domains. The FBXW2 gene product, the second identified member of the F-box gene family, contains multiple WD-40 repeats. | SP Function: | Gene Ontology: | BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003584_01
Name: Platelet-activating factor receptor |
Sum Func: PTAFR shows structural characteristics of the rhodopsin (MIM 180380) gene family and binds platelet-activating factor (PAF). PAF is a phospholipid (1-0-alkyl-2-acetyl-sn-glycero-3-phosphorylcholine) that has been implicated as a mediator in diverse pathologic processes, such as allergy, asthma, septic shock, arterial thrombosis, and inflammatory processes.[supplied by OMIM] | SP Function: receptor for platelet activating factor, a chemotactic phospholipid mediator that possesses potent inflammatory, smooth- muscle contractile and hypotensive activity. seem to mediate its action via a g protein that activate a phosphatidylinositol- calcium second messenger system. | Gene Ontology:
biological process: biological process: biological process: biological process: biological process: cellular component: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003654_01
Name: Coagulation factor II (thrombin) receptor-like 2 |
Sum Func: Coagulation factor II (thrombin) receptor-like 2 (F2RL2) is a member of the large family of 7-transmembrane-region receptors that couple to guanosine-nucleotide-binding proteins. F2RL2 is also a member of the protease-activated receptor family and activated by thrombin. F2RL2 is activated by proteolytic cleavage of its extracellular amino terminus. The new amino terminus functions as a tethered ligand and activates the receptor. F2RL2 is a cofactor for F2RL3 activation by thrombin. It mediates thrombin-triggered phosphoinositide hydrolysis and is expressed in a variety of tissues. | SP Function: receptor for activated thrombin coupled to g proteins that stimulate phosphoinositide hydrolysis. | Gene Ontology:
biological process: biological process: cellular component: molecular function: biological process: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002380_01
Name: Chemokine (C-C motif) receptor 8 |
Sum Func: This gene encodes a member of the beta chemokine receptor family, which is predicted to be a seven transmembrane protein similar to G protein-coupled receptors. Chemokines and their receptors are important for the migration of various cell types into the inflammatory sites. This receptor protein preferentially expresses in the thymus. I-309, thymus activation-regulated cytokine (TARC) and macrophage inflammatory protein-1 beta (MIP-1 beta) have been identified as ligands of this receptor. Studies of this receptor and its ligands suggested its role in regulation of monocyte chemotaxis and thymic cell apoptosis. More specifically, this receptor may contribute to the proper positioning of activated T cells within the antigenic challenge sites and specialized areas of lymphoid tissues. This gene is located at the chemokine receptor gene cluster region. | SP Function: receptor for the chemokines scya1/i-309, scya4/mip-1- beta and scya17/tarc may regulate monocyte chemotaxis and thymic cell line apoptosis. alternative coreceptor with cd4 for hiv-1 infection. | Gene Ontology:
molecular function: biological process: biological process: biological process: molecular function: biological process: biological process: cellular component: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002317_01
Name: Chemokine (C-X3-C motif) receptor 1 |
Sum Func: | SP Function: receptor for the cx3c chemokine fractalkine and mediates both its adhesive and migratory functions. acts as coreceptor with cd4 for hiv-1 virus envelope protein (in vitro). isoform 2 and isoform 3 seem to be more potent hiv coreceptors than isoform 1. | Gene Ontology:
biological process: biological process: biological process: molecular function: biological process: molecular function: cellular component: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H016261_01
Name: G protein-coupled receptor 92 |
Sum Func: G protein-coupled receptors (GPCRs, or GPRs) contain 7 transmembrane domains and transduce extracellular signals through heterotrimeric G proteins.[supplied by OMIM] | SP Function: | Gene Ontology:
biological process: cellular component: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H012371_01
Name: Thyroid stimulating hormone receptor |
Sum Func: | SP Function: receptor for thyrotropin. plays a central role in controlling thyroid cell metabolism. the activity of this receptor is mediated by g proteins which activate adenylate cyclase. also acts as a receptor for thyrostimulin (gpa2+gpb5). | Gene Ontology:
biological process: biological process: cellular component: cellular component: biological process: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003426_01
Name: Prostaglandin D2 receptor (DP) |
Sum Func: The protein encoded by this gene is a G-protein-coupled receptor. It has been shown to function as a prostanoid DP receptor. The activity of this receptor is mainly mediated by G-S proteins that stimulate adenylate cyclase resulting in an elevation of intracellular cAMP and Ca2+. Knockout studies in mice suggest that the ligand of this receptor, prostaglandin D2 (PGD2), functions as a mast cell-derived mediator to trigger asthmatic responses. | SP Function: receptor for prostaglandin d2 (pgd2). the activity of this receptor is mainly mediated by g(s) proteins that stimulate adenylate cyclase, resulting in an elevation of intracellular camp. a mobilization of calcium is also observed, but without formation of inositol 1,4,5-trisphosphate. | Gene Ontology:
biological process: cellular component: molecular function: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003721_01
Name: Dopamine receptor D4 |
Sum Func: This gene encodes the D4 subtype of the dopamine receptor. The D4 subtype is a G-protein coupled receptor which inhibits adenylyl cyclase. It is a target for drugs which treat schizophrenia and Parkinson disease. Mutations in this gene have been associated with various behavioral phenotypes, including autonomic nervous system dysfunction, attention deficit/hyperactivity disorder, and the personality trait of novelty seeking. This gene contains a polymorphic number (2-10 copies) of tandem 48 nt repeats; the sequence shown contains four repeats. | SP Function: this is one of the five types (d1 to d5) of receptors for dopamine. the activity of this receptor is mediated by g proteins which inhibit adenylyl cyclase. | Gene Ontology:
biological process: molecular function: biological process: cellular component: cellular component: molecular function: molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003854_01
Name: Burkitt lymphoma receptor 1, GTP binding protein (chemokine (C-X-C motif) receptor 5) |
Sum Func: This gene was identified as a gene specifically expressed in Burkitt’s lymphoma and lymphatic tissues. The protein encoded by this gene is predicted to be a seven transmembrane G protein- coupled receptor and belongs to the CXC chemokine receptor family. BLC, a B-lymphocyte chemoattractant, was identified to be a specific ligand for this receptor. Studies of this gene and its mouse counterpart strongly suggest the essential function of this gene in B cell migration and localization within specific anatomic compartments, such as follicles in lymph nodes as well as in spleen. Two alternatively spliced variants of this gene exist. | SP Function: cytokine receptor that binds to blc. blr1 exerts possibly a regulatory function in burkitt lymphoma (bl) lymphomagenesis and/or b-cell differentiation. it is a potential candidate for cell-cell interaction, and activation of mature b- lymphocytes in lymphatic tissues. | Gene Ontology:
biological process: molecular function: biological process: molecular function: biological process: cellular component: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002271_01
Name: Neuropeptide Y receptor Y2 |
Sum Func: | SP Function: receptor for neuropeptide y and peptide yy. the rank order of affinity of this receptor for pancreatic polypeptides is pyy > npy > pyy (3-36) > npy (2-36) > [ile-31, gln-34] pp > [leu- 31, pro-34] npy > pp, [pro-34] pyy and npy free acid. | Gene Ontology:
biological process: biological process: molecular function: biological process: biological process: cellular component: biological process: molecular function: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002797_01
Name: Adenosine A3 receptor |
Sum Func: There are 3 types of adenosine receptors, each of which contains 7 transmembrane domains and interacts with G proteins. The A1 receptors inhibit adenylate cyclase while the type A2 receptors stimulate activity. Each adenosine receptor has a specific pattern of ligand binding and a unique tissue distribution. Adenosine released during cardiac ischemia exerts a potent, protective effect in the heart. The adenosine A3 receptor is expressed on cardiac ventricular cells, and its activation protects the ventricular heart cell against injury during a subsequent exposure to ischemia. | SP Function: receptor for adenosine. the activity of this receptor is mediated by g proteins which inhibits adenylyl cyclase. possible role in reproduction. | Gene Ontology:
molecular function: biological process: biological process: biological process: cellular component: biological process: molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002327_01
Name: Adenosine A1 receptor |
Sum Func: There are 3 types of adenosine receptors, each of which contains 7 transmembrane domains and interacts with G proteins. The A1 receptors inhibit adenylate cyclase while the type A2 receptors stimulate activity. Each adenosine receptor has a specific pattern of ligand binding and a unique tissue distribution. The human ADORA1 gene consists of 6 exons of which the last 2 are part of the coding region. A study of mRNAs from a range of human tissues revealed the existence of alternative splicing within the 5′ UTR. Transcripts containing exons 4, 5 and 6 were found in all tissues while a distinct transcript containing exons 3, 5 and 6 was seen only in certain tissues. No transcript contained both exons 3 and 4. | SP Function: receptor for adenosine. the activity of this receptor is mediated by g proteins which inhibit adenylyl cyclase. | Gene Ontology:
molecular function: biological process: biological process: biological process: biological process: cellular component: biological process: biological process: molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003352_01
Name: Interleukin 1 receptor, type I |
Sum Func: The protein encoded by this gene is a cytokine receptor that belongs to the interleukin 1 receptor family. This protein is a receptor for interleukin alpha (IL1A), interleukin beta (IL1B), and interleukin 1 receptor, type I(IL1R1/IL1RA). It is an important mediator involved in many cytokine induced immune and inflammatory responses. This gene along with interleukin 1 receptor, type II (IL1R2), interleukin 1 receptor-like 2 (IL1RL2), and interleukin 1 receptor-like 1 (IL1RL1) form a cytokine receptor gene cluster in a region mapped to chromosome 2q12. | SP Function: receptor for interleukin-1 alpha (il-1a), beta (il-1b), and interleukin-1 receptor antagonist protein (il-1ra). binding to the agonist leads to the activation of nf-kappa-b. signaling involves formation of a ternary complex containing il1rap, tollip, myd88, and irak1 or irak2. | Gene Ontology:
biological process: biological process: biological process: cellular component: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H000309_01
Name: CAMP responsive element binding protein 5 |
Sum Func: | SP Function: | Gene Ontology:
cellular component: biological process: molecular function: molecular function: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003008_01
Name: Mitogen-activated protein kinase kinase kinase 4 |
Sum Func: The central core of each mitogen-activated protein kinase (MAPK) pathway is a conserved cascade of 3 protein kinases: an activated MAPK kinase kinase (MAPKKK) phosphorylates and activates a specific MAPK kinase (MAPKK), which then activates a specific MAPK. While the ERK MAPKs are activated by mitogenic stimulation, the CSBP2 and JNK MAPKs are activated by environmental stresses such as osmotic shock, UV irradiation, wound stress, and inflammatory factors. This gene encodes a MAPKKK, the MEKK4 protein, also called MTK1. This protein contains a protein kinase catalytic domain at the C terminus. The N-terminal nonkinase domain may contain a regulatory domain. Expression of MEKK4 in mammalian cells activated the CSBP2 and JNK MAPK pathways, but not the ERK pathway. In vitro kinase studies indicated that recombinant MEKK4 can specifically phosphorylate and activate PRKMK6 and SERK1, MAPKKs that activate CSBP2 and JNK, respectively but cannot phosphorylate PRKMK1, an MAPKK that activates ERKs. MEKK4 is a major mediator of environmental stresses that activate the CSBP2 MAPK pathway, and a minor mediator of the JNK pathway. Two alternatively spliced transcripts encoding distinct isoforms have been described. | SP Function: component of a protein kinase signal transduction cascade. activates the csbp2, p38 and jnk mapk pathways, but not the erk pathway. specifically phosphorylates and activates map2k4 and map2k6. | Gene Ontology:
molecular function: molecular function: biological process: molecular function: biological process: molecular function: biological process: molecular function: |
BioCarta Pathways:
1: MAP Kinase Signaling Pathway |
KEGG Pathways:
2: Apoptosis 5: Gap junction 6: Toll-like receptor signaling pathway 7: T cell receptor signaling pathway 9: Epithelial cell signaling in Helicobacter pylori infection |
| Unique id : H004258_01
Name: Similar to NAD(P) dependent steroid dehydrogenase-like |
Sum Func: This gene encodes a highly conserved protein kinase in the calmodulin-mediated signaling pathway that links activation of cell surface receptors to cell division. This kinase is involved in the regulation of protein synthesis. It phosphorylates eukaryotic elongation factor 2 (EEF2) and thus inhibits the EEF2 function. The activity of this kinase is increased in many cancers and may be a valid target for anti-cancer treatment. | SP Function: phosphorylates eukaryotic elongation factor-2. binds calmodulin (by similarity). | Gene Ontology:
molecular function: molecular function: cellular component: biological process: molecular function: molecular function: molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H011228_01
Name: MAP kinase interacting serine/threonine kinase 2 |
Sum Func: | SP Function: | Gene Ontology:
molecular function: molecular function: biological process: biological process: biological process: molecular function: molecular function: molecular function: biological process: biological process: molecular function: |
BioCarta Pathways:
1: Erk1/Erk2 Mapk Signaling pathway 2: MAP Kinase Signaling Pathway |
KEGG Pathways:
2: Cell cycle 4: Apoptosis 6: Dorso-ventral axis formation 11: Focal adhesion 13: Tight junction 14: Gap junction 15: Toll-like receptor signaling pathway 16: Jak-STAT signaling pathway 17: Natural killer cell mediated cytotoxicity 18: T cell receptor signaling pathway 19: B cell receptor signaling pathway 20: Fc epsilon RI signaling pathway 21: Circadian rhythm 24: Regulation of actin cytoskeleton |
| Unique id : H003107_01
Name: Mitogen-activated protein kinase 13 |
Sum Func: The protein encoded by this gene is a member of the MAP kinase family. MAP kinases act as an integration point for multiple biochemical signals, and are involved in a wide variety of cellular processes such as proliferation, differentiation, transcription regulation and development. This kinase is closely related to p38 MAP kinase, both of which can be activated by proinflammatory cytokines and cellular stress. MAP kinase kinases 3, and 6 can phosphorylate and activate this kinase. Transcription factor ATF2, and microtubule dynamics regulator stathmin have been shown to be the substrates of this kinase. | SP Function: responds to activation by environmental stress and pro- inflammatory cytokines by phosphorylating downstream targets. plays a role in the regulation of protein translation by phosphorylating and inactivating eef2k. | Gene Ontology:
molecular function: molecular function: molecular function: biological process: biological process: biological process: molecular function: biological process: biological process: molecular function: |
BioCarta Pathways:
1: Keratinocyte Differentiation 2: MAP Kinase Signaling Pathway 3: Stathmin and breast cancer resistance to antimicrotubule agents |
KEGG Pathways:
4: Dorso-ventral axis formation 10: Gap junction 11: Toll-like receptor signaling pathway 12: Natural killer cell mediated cytotoxicity 13: Fc epsilon RI signaling pathway 14: Leukocyte transendothelial migration 17: Regulation of actin cytoskeleton 20: Adipocytokine signaling pathway 22: Epithelial cell signaling in Helicobacter pylori infection |
| Unique id : H008351_01
Name: Dual specificity phosphatase 10 |
Sum Func: Dual specificity protein phosphatases inactivate their target kinases by dephosphorylating both the phosphoserine/threonine and phosphotyrosine residues. They negatively regulate members of the MAPK superfamily (MAPK/ERK, SAPK/JNK, p38), which is associated with cellular proliferation and differentiation. Different members of this family of dual specificity phosphatases show distinct substrate specificities for MAPKs, different tissue distribution and subcellular localization, and different modes of inducibility of their expression by extracellular stimuli. This gene product binds to and inactivates p38 and SAPK/JNK, but not MAPK/ERK. Its subcellular localization is unique; it is evenly distributed in both the cytoplasm and the nucleus. This gene is widely expressed in various tissues and organs, and its expression is elevated by stress stimuli. Three transcript variants encoding two different isoforms have been found for this gene. | SP Function: involved in the inactivation of map kinases. has a specificity for the mapk11/mapk12/mapk13/mapk14 subfamily. | Gene Ontology:
biological process: molecular function: cellular component: molecular function: cellular component: biological process: biological process: biological process: |
BioCarta Pathways: | KEGG Pathways:
3: Cell cycle 4: Apoptosis 10: Cell adhesion molecules (CAMs) 12: Tight junction 13: Jak-STAT signaling pathway 14: Natural killer cell mediated cytotoxicity 15: T cell receptor signaling pathway 16: B cell receptor signaling pathway 17: Leukocyte transendothelial migration 21: Adipocytokine signaling pathway 23: Epithelial cell signaling in Helicobacter pylori infection |
| Unique id : H006851_01
Name: Mitogen-activated protein kinase kinase kinase 7 interacting protein 2 |
Sum Func: The protein encoded by this gene is an activator of MAP3K7/TAK1, which is required for for the IL-1 induced activation of nuclear factor kappaB and MAPK8/JNK. This protein forms a kinase complex with TRAF6, MAP3K7 and TAB1, thus serves as an adaptor linking MAP3K7 and TRAF6. This protein, TAB1, and MAP3K7 also participate in the signal transduction induced by TNFSF11/RANKl through the activation of the receptor activator of NF-kappB (TNFRSF11A/RANK), which may regulate the development and function of osteoclasts. Two alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported. | SP Function: | Gene Ontology:
molecular function: biological process: biological process: molecular function: molecular function: |
BioCarta Pathways:
1: Toll-Like Receptor Pathway |
KEGG Pathways: |
| Unique id : H002340_01
Name: Mitogen-activated protein kinase kinase kinase 5 |
Sum Func: Mitogen-activated protein kinase (MAPK) signaling cascades include MAPK or extracellular signal-regulated kinase (ERK), MAPK kinase (MKK or MEK), and MAPK kinase kinase (MAPKKK or MEKK). MAPKK kinase/MEKK phosphorylates and activates its downstream protein kinase, MAPK kinase/MEK, which in turn activates MAPK. The kinases of these signaling cascades are highly conserved, and homologs exist in yeast, Drosophila, and mammalian cells. MAPKKK5 contains 1,374 amino acids with all 11 kinase subdomains. Northern blot analysis shows that MAPKKK5 transcript is abundantly expressed in human heart and pancreas. The MAPKKK5 protein phosphorylates and activates MKK4 (aliases SERK1, MAPKK4) in vitro, and activates c-Jun N-terminal kinase (JNK)/stress-activated protein kinase (SAPK) during transient expression in COS and 293 cells; MAPKKK5 does not activate MAPK/ERK. | SP Function: component of a protein kinase signal transduction cascade. phosphorylates and activates map2k4 and map2k6, which in turn activate the jnk and p38 map kinases, respectively. overexpression induces apoptotic cell death. | Gene Ontology:
molecular function: molecular function: biological process: biological process: biological process: biological process: molecular function: biological process: molecular function: biological process: molecular function: |
BioCarta Pathways:
1: The 4-1BB-dependent immune response 2: HIV-I Nef: negative effector of Fas and TNF 3: Keratinocyte Differentiation 4: MAP Kinase Signaling Pathway 5: p38 MAPK Signaling Pathway |
KEGG Pathways:
2: Apoptosis 5: Gap junction 6: Toll-like receptor signaling pathway 7: T cell receptor signaling pathway 9: Epithelial cell signaling in Helicobacter pylori infection |
| Unique id : H002173_01
Name: Cell division cycle 42 (GTP binding protein, 25kDa) |
Sum Func: The protein encoded by this gene is a small GTPase of the Rho-subfamily, which regulates signaling pathways that control diverse cellular functions including cell morphology, migration, endocytosis and cell cycle progression. This protein is highly similar to Saccharomyces cerevisiae Cdc 42, and is able to complement the yeast cdc42-1 mutant. The product of oncogene Dbl was reported to specifically catalyze the dissociation of GDP from this protein. This protein could regulate actin polymerization through its direct binding to Neural Wiskott-Aldrich syndrome protein (N-WASP), which subsequently activates Arp2/3 complex. Alternative splicing of this gene results in at least two transcript variants. | SP Function: | Gene Ontology:
molecular function: biological process: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003612_01
Name: V-akt murine thymoma viral oncogene homolog 1 |
Sum Func: The serine-threonine protein kinase encoded by the AKT1 gene is catalytically inactive in serum-starved primary and immortalized fibroblasts. AKT1 and the related AKT2 are activated by platelet-derived growth factor. The activation is rapid and specific, and it is abrogated by mutations in the pleckstrin homology domain of AKT1. It was shown that the activation occurs through phosphatidylinositol 3-kinase. In the developing nervous system AKT is a critical mediator of growth factor-induced neuronal survival. Survival factors can suppress apoptosis in a transcription-independent manner by activating the serine/threonine kinase AKT1, which then phosphorylates and inactivates components of the apoptotic machinery. | SP Function: general protein kinase capable of phosphorylating several known proteins. | Gene Ontology:
molecular function: biological process: biological process: biological process: cellular component: biological process: molecular function: biological process: biological process: molecular function: |
BioCarta Pathways:
1: Influence of Ras and Rho proteins on G1 to S Transition 2: Role of nicotinic acetylcholine receptors in the regulation of apoptosis 3: AKT Signaling Pathway 4: Regulation of BAD phosphorylation 5: B Cell Survival Pathway 6: Apoptotic Signaling in Response to DNA Damage 7: Transcription factor CREB and its extracellular signals 8: Phospholipids as signalling intermediaries 9: Regulation of eIF4e and p70 S6 Kinase 10: Role of Erk5 in Neuronal Survival 11: Corticosteroids and cardioprotection 12: Inhibition of Cellular Proliferation by Gleevec 13: Inactivation of Gsk3 by AKT causes accumulation of b-catenin in Alveolar Macrophages 14: Human Cytomegalovirus and Map Kinase Pathways 15: Control of skeletal myogenesis by HDAC & calcium/calmodulin-dependent kinase (CaMK) 16: Skeletal muscle hypertrophy is regulated via AKT/mTOR pathway 17: Multiple antiapoptotic pathways from IGF-1R signaling lead to BAD phosphorylation 18: IL-2 Receptor Beta Chain in T cell Activation 19: IL 4 signaling pathway 20: The IGF-1 Receptor and Longevity 21: mTOR Signaling Pathway 22: NFAT and Hypertrophy of the heart (Transcription in the broken heart) 23: Actions of Nitric Oxide in the Heart 24: Hypoxia and p53 in the Cardiovascular system 25: Phospholipase C Signaling Pathway 26: Phosphoinositides and their downstream targets. 27: PTEN dependent cell cycle arrest and apoptosis 28: Ras Signaling Pathway 29: Telomeres, Telomerase, Cellular Aging, and Immortality 30: Trefoil Factors Initiate Mucosal Healing 31: Trka Receptor Signaling Pathway |
KEGG Pathways:
2: Cell cycle 4: Apoptosis 6: Dorso-ventral axis formation 11: Focal adhesion 13: Tight junction 14: Gap junction 15: Toll-like receptor signaling pathway 16: Jak-STAT signaling pathway 17: Natural killer cell mediated cytotoxicity 18: T cell receptor signaling pathway 19: B cell receptor signaling pathway 20: Fc epsilon RI signaling pathway 21: Circadian rhythm 24: Regulation of actin cytoskeleton |
| Unique id : H001386_01
Name: Mitogen-activated protein kinase kinase kinase 10 |
Sum Func: The protein encoded by this gene is a member of the serine/threonine kinase family. This kinase has been shown to activate MAPK8/JNK and MKK4/SEK1, and this kinase itself can be phosphorylated, and thus activated by JNK kinases. This kinase functions preferentially on the JNK signaling pathway, and is reported to be involved in nerve growth factor (NGF) induced neuronal apoptosis. | SP Function: | Gene Ontology:
molecular function: biological process: biological process: biological process: molecular function: molecular function: biological process: molecular function: |
BioCarta Pathways:
1: MAP Kinase Signaling Pathway |
KEGG Pathways:
2: Apoptosis 5: Gap junction 6: Toll-like receptor signaling pathway 7: T cell receptor signaling pathway 9: Epithelial cell signaling in Helicobacter pylori infection |
| Unique id : H003434_01
Name: Dual specificity phosphatase 1 |
Sum Func: The expression of DUSP1 gene is induced in human skin fibroblasts by oxidative/heat stress and growth factors. It specifies a protein with structural features similar to members of the non-receptor-type protein-tyrosine phosphatase family, and which has significant amino-acid sequence similarity to a Tyr/Ser-protein phosphatase encoded by the late gene H1 of vaccinia virus. The bacterially expressed and purified DUSP1 protein has intrinsic phosphatase activity, and specifically inactivates mitogen-activated protein (MAP) kinase in vitro by the concomitant dephosphorylation of both its phosphothreonine and phosphotyrosine residues. Furthermore, it suppresses the activation of MAP kinase by oncogenic ras in extracts of Xenopus oocytes. Thus, DUSP1 may play an important role in the human cellular response to environmental stress as well as in the negative regulation of cellular proliferation. | SP Function: dual specificity phosphatase that dephosphorylates map kinase erk2 on both thr-183 and tyr-185. | Gene Ontology:
molecular function: biological process: molecular function: molecular function: biological process: biological process: |
BioCarta Pathways:
1: CD40L Signaling Pathway 2: Regulation of MAP Kinase Pathways Through Dual Specificity Phosphatases 3: NFkB activation by Nontypeable Hemophilus influenzae 4: Mechanism of Gene Regulation by Peroxisome Proliferators via PPARa(alpha) 5: TNFR2 Signaling Pathway |
KEGG Pathways:
3: Cell cycle 4: Apoptosis 10: Cell adhesion molecules (CAMs) 12: Tight junction 13: Jak-STAT signaling pathway 14: Natural killer cell mediated cytotoxicity 15: T cell receptor signaling pathway 16: B cell receptor signaling pathway 17: Leukocyte transendothelial migration 21: Adipocytokine signaling pathway 23: Epithelial cell signaling in Helicobacter pylori infection |
| Unique id : H003163_01
Name: CAMP responsive element binding protein 1 |
Sum Func: This gene encodes a transcription factor that is a member of the leucine zipper family of DNA binding proteins. This protein binds as a homodimer to the cAMP-responsive element, an octameric palindrome. The protein is phosphorylated by several protein kinases, and induces transcription of genes in response to hormonal stimulation of the cAMP pathway. Alternate splicing of this gene results in two transcript variants encoding different isoforms. | SP Function: this protein binds the camp response element (cre), a sequence present in many viral and cellular promoters. creb stimulates transcription on binding to the cre. | Gene Ontology:
cellular component: molecular function: biological process: biological process: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H012856_01
Name: MAP kinase interacting serine/threonine kinase 1 |
Sum Func: | SP Function: | Gene Ontology:
molecular function: molecular function: biological process: biological process: molecular function: biological process: molecular function: biological process: biological process: molecular function: |
BioCarta Pathways:
1: Regulation of eIF4e and p70 S6 Kinase 2: Erk1/Erk2 Mapk Signaling pathway 3: mTOR Signaling Pathway 4: MAP Kinase Signaling Pathway 5: p38 MAPK Signaling Pathway |
KEGG Pathways:
2: Cell cycle 4: Apoptosis 6: Dorso-ventral axis formation 11: Focal adhesion 13: Tight junction 14: Gap junction 15: Toll-like receptor signaling pathway 16: Jak-STAT signaling pathway 17: Natural killer cell mediated cytotoxicity 18: T cell receptor signaling pathway 19: B cell receptor signaling pathway 20: Fc epsilon RI signaling pathway 21: Circadian rhythm 24: Regulation of actin cytoskeleton |
| Unique id : H002824_01
Name: Janus kinase 3 (a protein tyrosine kinase, leukocyte) |
Sum Func: JAK3 encodes Janus kinase 3, a tyrosine kinase that belongs to the Janus family. JAK3 functions in signal transduction and interacts with members of the STAT (signal transduction and activators of transcription) family. JAK3 is predominantly expressed in immune cells and transduces a signal in response to its activation via tyrosine phosphorylation by interleukin receptors. Mutations that abrogate Janus kinase 3 function cause an autosomal SCID (severe combined immunodeficiency disease). | SP Function: tyrosine kinase of the non-receptor type, involved in the interleukin-2 and interleukin-4 signaling pathway. phosphorylates stat6, irs1, irs2 and pi3k. | Gene Ontology:
molecular function: molecular function: biological process: cellular component: biological process: biological process: biological process: molecular function: molecular function: molecular function: |
BioCarta Pathways:
1: IL22 Soluble Receptor Signaling Pathway 2: IL 2 signaling pathway 3: IL-2 Receptor Beta Chain in T cell Activation 4: IL 4 signaling pathway 5: IL 6 signaling pathway 6: IL-7 Signal Transduction 7: Stat3 Signaling Pathway |
KEGG Pathways:
2: Cell cycle 8: Gap junction 10: Natural killer cell mediated cytotoxicity 11: T cell receptor signaling pathway 12: B cell receptor signaling pathway 13: Fc epsilon RI signaling pathway 14: Leukocyte transendothelial migration 16: Regulation of actin cytoskeleton 18: Adipocytokine signaling pathway 19: Epithelial cell signaling in Helicobacter pylori infection |
| Unique id : H008390_01
Name: Interleukin 6 signal transducer (gp130, oncostatin M receptor) |
Sum Func: The protein encoded by this gene is a signal transducer shared by many cytokines, including interleukin 6 (IL6), ciliary neurotrophic factor (CNTF), leukemia inhibitory factor (LIF), and oncostatin M (OSM). This protein functions as a part of the cytokine receptor complex. The activation of this protein is dependent upon the binding of cytokines to their receptors. vIL6, a protein related to IL6 and encoded by the Kaposi sarcoma-associated herpes virus, can bypass the interleukin 6 receptor (IL6R) and directly activate this protein. Knockout studies in mice suggested a critical role of the gene encoding this protein in regulating myocyte apoptosis. Alternatively spliced transcript variants encoding distinct isoforms have been described. | SP Function: signal-transducing molecule. the receptor systems for il6, lif, osm, cntf, il11, ctf1 and bsf3 can utilize gp130 for initiating signal transmission. binds to il6/il6r (alpha chain) complex, resulting in the formation of high-affinity il6 binding sites, and transduces the signal. does not bind il6. may have a role in embryonic development (by similarity). | Gene Ontology:
biological process: biological process: cellular component: molecular function: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003110_01
Name: Interleukin 6 (interferon, beta 2) |
Sum Func: | SP Function: il-6 is a cytokine with a wide variety of biological functions: it plays an essential role in the final differentiation of b-cells into ig-secreting cells, it induces myeloma and plasmacytoma growth, it induces nerve cells differentiation, in hepatocytes it induces acute phase reactants. | Gene Ontology:
biological process: biological process: biological process: molecular function: cellular component: biological process: molecular function: biological process: biological process: |
BioCarta Pathways:
1: Low-density lipoprotein (LDL) pathway during atherogenesis 2: Cells and Molecules involved in local acute inflammatory response 3: Cytokine Network 4: Erythrocyte Differentiation Pathway 5: Role of ERBB2 in Signal Transduction and Oncology 6: IL-10 Anti-inflammatory Signaling Pathway 7: IL 17 Signaling Pathway 8: Signal transduction through IL1R 9: IL 5 Signaling Pathway 10: IL 6 signaling pathway 11: Cytokines and Inflammatory Response 12: Regulation of hematopoiesis by cytokines |
KEGG Pathways: |
| Unique id : H003456_01
Name: Interleukin 6 receptor |
Sum Func: Interleukin 6 (IL6) is a potent pleiotropic cytokine that regulates cell growth and differentiation and plays an important role in immune response. The protein encoded by this gene is a subunit of the receptor complex for IL6. The IL6 receptor is a protein complex consisting of this protein and interleukin 6 signal transducer (IL6ST/GP130/IL6-beta), a receptor subunit also shared by many other cytokines. Dysregulated production of IL6 and this receptor are implicated in the pathogenesis of many diseases, such as multiple myeloma, autoimmune diseases and prostate cancer. Alternatively spliced transcript variants encoding distinct isoforms have been reported. | SP Function: low concentration of a soluble form of interleukin-6 receptor acts as an agonist of il6 activity. | Gene Ontology:
biological process: biological process: biological process: molecular function: cellular component: molecular function: biological process: molecular function: cellular component: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003000_01
Name: RAB5A, member RAS oncogene family |
Sum Func: | SP Function: required for the fusion of plasma membranes and early endosomes. | Gene Ontology:
molecular function: molecular function: cellular component: biological process: molecular function: molecular function: biological process: biological process: |
BioCarta Pathways:
1: The role of FYVE-finger proteins in vesicle transport 2: Phosphoinositides and their downstream targets. 3: Rab GTPases Mark Targets In The Endocytotic Machinery |
KEGG Pathways: |
| Unique id : H001800_01
Name: Proteasome (prosome, macropain) subunit, alpha type, 5 |
Sum Func: The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a member of the peptidase T1A family, that is a 20S core alpha subunit. | SP Function: the proteasome is a multicatalytic proteinase complex which is characterized by its ability to cleave peptides with arg, phe, tyr, leu, and glu adjacent to the leaving group at neutral or slightly basic ph. the proteasome has an atp-dependent proteolytic activity. | Gene Ontology:
molecular function: cellular component: biological process: |
BioCarta Pathways: | KEGG Pathways:
1: Proteasome |
| Unique id : H003760_01
Name: DnaJ (Hsp40) homolog, subfamily A, member 1 |
Sum Func: | SP Function: co-chaperone of hsc70. seems to play a role in protein import into mitochondria. | Gene Ontology:
biological process: biological process: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H007996_01
Name: GABA(A) receptor-associated protein |
Sum Func: Gamma-aminobutyric acid A receptors [GABA(A) receptors] are ligand-gated chloride channels that mediate inhibitory neurotransmission. This gene encodes GABA(A) receptor-associated protein, which is highly positively charged in its N-terminus and shares sequence similarity with light chain-3 of microtubule-associated proteins 1A and 1B. This protein clusters neurotransmitter receptors by mediating interaction with the cytoskeleton. | SP Function: | Gene Ontology:
cellular component: cellular component: biological process: biological process: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H001791_01
Name: Ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase) |
Sum Func: UCHL1 is a member of a gene family whose products hydrolyze small C-terminal adducts of ubiquitin to generate the ubiquitin monomer. Expression of UCHL1 is highly specific to neurons and to cells of the diffuse neuroendocrine system and their tumors. It is present in all neurons (Doran et al., 1983 [PubMed 6343558]).[supplied by OMIM] | SP Function: ubiquitin-protein hydrolase is involved both in the processing of ubiquitin precursors and of ubiquitinated proteins. this enzyme is a thiol protease that recognizes and hydrolyzes a peptide bond at the c-terminal glycine of ubiquitin. | Gene Ontology:
molecular function: cellular component: molecular function: molecular function: biological process: molecular function: molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H006293_01
Name: ATPase, H+ transporting, lysosomal 21kDa, V0 subunit c” |
Sum Func: This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c’, c”, and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This encoded protein is part of the transmembrane V0 domain and is the human counterpart of yeast VMA16. | SP Function: proton-conducting pore forming subunit of the membrane integral v0 complex of vacuolar atpase. v-atpase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells. | Gene Ontology:
biological process: molecular function: molecular function: molecular function: biological process: cellular component: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H000152_01
Name: Kinesin family member 11 |
Sum Func: This gene encodes a motor protein that belongs to the kinesin-like protein family. Members of this protein family are known to be involved in various kinds of spindle dynamics. The function of this gene product includes chromosome positioning, centrosome separation and establishing a bipolar spindle during cell mitosis. | SP Function: motor protein required for establishing a bipolar spindle. blocking of eg5 prevents centrosome migration and arrest cells in mitosis with monoastral microtubule arrays. | Gene Ontology:
molecular function: cellular component: molecular function: biological process: cellular component: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H011911_01
Name: SMC5 structural maintenance of chromosomes 5-like 1 (yeast) |
Sum Func: | SP Function: | Gene Ontology:
molecular function: biological process: cellular component: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H001903_01
Name: Polymerase (DNA directed), gamma |
Sum Func: | SP Function: involved in the replication of mitochondrial DNA. | Gene Ontology:
molecular function: biological process: molecular function: cellular component: molecular function: molecular function: cellular component: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H007126_01
Name: Mouse Mammary Turmor Virus Receptor homolog 1 |
Sum Func: | SP Function: | Gene Ontology:
molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H012105_01
Name: Testis enhanced gene transcript (BAX inhibitor 1) |
Sum Func: | SP Function: suppressor of apoptosis. | Gene Ontology:
biological process: cellular component: cellular component: cellular component: biological process: cellular component: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H001391_01
Name: KIAA1093 protein |
Sum Func: | SP Function: | Gene Ontology: | BioCarta Pathways: | KEGG Pathways: |
| Unique id : H007917_01
Name: Translation factor sui1 homolog |
Sum Func: | SP Function: probably involved in translation. | Gene Ontology:
biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H001311_01
Name: ATP/GTP-binding protein |
Sum Func: | SP Function: component of pre-mrna cleavage complex ii. | Gene Ontology:
molecular function: molecular function: biological process: cellular component: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003973_01
Name: EH-domain containing 1 |
Sum Func: This gene belongs to a highly conserved gene family encoding EPS15 homology (EH) domain-containing proteins. The protein-binding EH domain was first noted in EPS15, a substrate for the epidermal growth factor receptor. The EH domain has been shown to be an important motif in proteins involved in protein-protein interactions and in intracellular sorting. The protein encoded by this gene is thought to play a role in the endocytosis of IGF1 receptors. | SP Function: | Gene Ontology:
molecular function: molecular function: molecular function: biological process: molecular function: cellular component: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H000449_01
Name: Endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 4 |
Sum Func: This gene encodes a member of family I of the G protein-coupled receptors, as well as the EDG family of proteins. This protein functions as a lysophosphatidic acid (LPA) receptor and contributes to Ca2+ mobilization, a critical cellular response to LPA in cells, through association with Gi and Gq proteins. | SP Function: | Gene Ontology:
biological process: cellular component: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003719_01
Name: Integrin, beta 7 |
Sum Func: | SP Function: integrin alpha-4/beta-7 (peyer’s patches-specific homing receptor lpam-1) is expected to play a role in adhesive interactions of leukocytes. it is a receptor for fibronectin and recognizes one or more domains within the alternatively spliced cs-1 region of fibronectin. integrin alpha-4/beta-7 is also a receptor for madcam1 and vcam1. it recognizes the sequence l-d-t in madcam1. integrin alpha-e/beta-7 (hml-1) is a receptor for e- cadherin. | Gene Ontology:
biological process: biological process: cellular component: cellular component: biological process: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H001798_01
Name: Ubiquitin specific protease 12 |
Sum Func: | SP Function: | Gene Ontology:
cellular component: molecular function: molecular function: biological process: molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H000564_01
Name: Protein kinase C binding protein 1 |
Sum Func: The protein encoded by this gene is a receptor for activated C-kinase (RACK) protein. The encoded protein has been shown to bind in vitro to activated protein kinase C beta I. In addition, this protein is a cutaneous T-cell lymphoma-associated antigen. Finally, the protein contains a bromodomain and two zinc fingers, and is thought to be a transcriptional regulator. Multiple transcript variants encoding several different isoforms have been found for this gene. | SP Function: | Gene Ontology:
molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002491_01
Name: Bone morphogenetic protein 1 |
Sum Func: The BMP1 locus encodes a protein that is capable of inducing formation of cartilage in vivo. Although other bone morphogenetic proteins are members of the TGF-beta superfamily, BMP1 encodes a protein that is not closely related to other known growth factors. BMP1 protein and procollagen C proteinase (PCP), a secreted metalloprotease requiring calcium and needed for cartilage and bone formation, are identical. PCP or BMP1 protein cleaves the C-terminal propeptides of procollagen I, II, and III and its activity is increased by the procollagen C-endopeptidase enhancer protein. The BMP1 gene is expressed as alternatively spliced variants that share an N-terminal protease domain but differ in their C-terminal region | SP Function: cleaves the c-terminal propeptides of procollagen i, ii and iii. induces cartilage and bone formation. | Gene Ontology:
molecular function: molecular function: biological process: molecular function: biological process: cellular component: molecular function: molecular function: molecular function: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002928_01
Name: CD47 antigen (Rh-related antigen, integrin-associated signal transducer) |
Sum Func: This gene encodes a membrane protein, which is involved in the increase in intracellular calcium concentration that occurs upon cell adhesion to extracellular matrix. The encoded protein is also a receptor for the C-terminal cell binding domain of thrombospondin, and it may play a role in membrane transport and signal transduction. This gene has broad tissue distribution, and is reduced in expression on Rh erythrocytes. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. | SP Function: receptor for ptpns1. may play a role in membrane transport and/or signal transduction. may prevent premature elimination of red blood cells. may be involved in membrane permeability changes induced following virus infection. has a role in cell adhesion in non-erythroid cells. | Gene Ontology:
biological process: cellular component: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H012158_01
Name: Thioredoxin interacting protein |
Sum Func: | SP Function: | Gene Ontology:
biological process: cellular component: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003050_01
Name: Chaperonin containing TCP1, subunit 4 (delta) |
Sum Func: | SP Function: molecular chaperone; assist the folding of proteins upon atp hydrolysis. known to play a role, in vitro, in the folding of actin and tubulin. | Gene Ontology:
molecular function: cellular component: biological process: biological process: molecular function: |
BioCarta Pathways:
1: B Cell Survival Pathway |
KEGG Pathways: |
| Unique id : H001622_01
Name: RAB31, member RAS oncogene family |
Sum Func: | SP Function: | Gene Ontology:
molecular function: biological process: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002970_01
Name: Integrin-linked kinase |
Sum Func: Transduction of extracellular matrix signals through integrins influences intracellular and extracellular functions, and appears to require interaction of integrin cytoplasmic domains with cellular proteins. Integrin-linked kinase (ILK), interacts with the cytoplasmic domain of beta-1 integrin. ILK encodes a predicted 451-amino acid protein, with an apparent molecular weight of 59 kD. The ILK protein is a serine/threonine protein kinase with 4 ankyrin-like repeats. ILK regulates integrin-mediated signal transduction. | SP Function: receptor-proximal protein kinase regulating integrin- mediated signal transduction. may act as a mediator of inside-out integrin signaling. focal adhesion protein part of the complex ilk-pinch. this complex is considered to be one of the convergence points of integrin- and growth factor-signaling pathway. could be implicated in mediating cell architecture, adhesion to integrin substrates and anchorage-dependent growth in epithelial cells. phosphorylates beta-1 and beta-3 integrin subunit on serine and threonine residues, but also akt1 and gsk3b. | Gene Ontology:
molecular function: biological process: biological process: biological process: molecular function: molecular function: |
BioCarta Pathways:
1: PTEN dependent cell cycle arrest and apoptosis |
KEGG Pathways: |
| Unique id : H002365_01
Name: Activated Cdc42-associated kinase 1 |
Sum Func: This gene encodes a tyrosine kinase that binds Cdc42Hs in its GTP-bound form and inhibits both the intrinsic and GTPase-activating protein (GAP)-stimulated GTPase activity of Cdc42Hs. This binding is mediated by a unique sequence of 47 amino acids C-terminal to an SH3 domain. The protein may be involved in a regulatory mechanism that sustains the GTP-bound active form of Cdc42Hs and which is directly linked to a tyrosine phosphorylation signal transduction pathway. | SP Function: | Gene Ontology:
molecular function: molecular function: cellular component: biological process: molecular function: biological process: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways:
3: Cytokine-cytokine receptor interaction 4: Apoptosis 5: Dorso-ventral axis formation 10: Gap junction 11: Hematopoietic cell lineage 13: Regulation of actin cytoskeleton 17: Dentatorubropallidoluysian atrophy (DRPLA) 18: Epithelial cell signaling in Helicobacter pylori infection |
| Unique id : H000644_01
Name: Protein phosphatase 2, regulatory subunit B (B56), alpha isoform |
Sum Func: The product of this gene belongs to the phosphatase 2A regulatory subunit B family. Protein phosphatase 2A is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. The B regulatory subunit might modulate substrate selectivity and catalytic activity. This gene encodes an alpha isoform of the regulatory subunit B56 subfamily. | SP Function: the b regulatory subunit might modulate substrate selectivity and catalytic activity, and also might direct the localization of the catalytic enzyme to a particular subcellular compartment. | Gene Ontology:
cellular component: molecular function: molecular function: cellular component: molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H009793_01
Name: Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6 |
Sum Func: Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli that work through G protein coupled receptors. The encoded protein belongs to a family of cytoplasmic proteins that activate the Ras-like family of Rho proteins by exchanging bound GDP for GTP. It may form a complex with G proteins and stimulate Rho-dependent signals. This protein is activated by PI3-kinase. Mutations in this gene can cause X-chromosomal non-specific mental retardation. | SP Function: acts as a rac1 guanine nucleotide exchange factor (gef). | Gene Ontology:
molecular function: biological process: molecular function: molecular function: biological process: cellular component: |
BioCarta Pathways:
1: Agrin in Postsynaptic Differentiation |
KEGG Pathways: |
| Unique id : H001256_01
Name: Sialyltransferase 4C (beta-galactoside alpha-2,3-sialyltransferase) |
Sum Func: | SP Function: it may catalyze the formation of the neuac-alpha-2,3- gal-beta-1,3-galnac- or neuac-alpha-2,3-gal-beta-1,3-glcnac- sequences found in terminal carbohydrate groups of glycoproteins and glycolipids. it may be involved in the biosynthesis of the sialyl lewis x determinant. | Gene Ontology:
cellular component: molecular function: cellular component: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H009783_01
Name: Engulfment and cell motility 1 (ced-12 homolog, C. elegans) |
Sum Func: The protein encoded by this gene interacts with the dedicator of cyto-kinesis 1 protein to promote phagocytosis and effect cell shape changes. Similarity to a C. elegans protein suggests that this protein may function in apoptosis and in cell migration. Alternative splicing of this gene results in two transcript variants encoding different isoforms. | SP Function: involved in cytoskeletal rearrangements required for phagocytosis of apoptotic cells and cell motility. acts in association with dock1 and crk. was initially proposed to be required in complex with dock1 to activate rac rho small gtpases. may enhance the guanine nucleotide exchange factor (gef) activity of dock1. | Gene Ontology:
biological process: molecular function: biological process: biological process: biological process: cellular component: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002298_01
Name: X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining; Ku autoantigen, 80kDa) |
Sum Func: The protein encoded by this gene is the 80-kilodalton subunit of the Ku heterodimer protein which is also known as ATP-dependent DNA helicase II or DNA repair protein XRCC5. Ku is the DNA-binding component of the DNA-dependent protein kinase, and it functions together with the DNA ligase IV-XRCC4 complex in the repair of DNA double-strand break by non-homologous end joining and the completion of V(D)J recombination events. This gene functionally complements Chinese hamster xrs-6, a mutant defective in DNA double-strand break repair and in ability to undergo V(D)J recombination. A rare microsatellite polymorphism in this gene is associated with cancer in patients of varying radiosensitivity. | SP Function: single stranded dna-dependent atp-dependent helicase. has a role in chromosome translocation. the dna helicase ii complex binds preferentially to fork-like ends of double-stranded dna in a cell cycle-dependent manner. it works in the 3′-5′ direction. binding to dna may be mediated by p70. involved in dna nonhomologous end joining (nhej) required for double-strand break repair and v(d)j recombination. the ku p70/p86 dimer acts as regulatory subunit of the dna-dependent protein kinase complex dna-pk by increasing the affinity of the catalytic subunit prkdc to dna by 100-fold. the ku p70/p86 dimer is probably involved in stabilizing broken dna ends and bringing them together. the assembly of the dna-pk complex to dna ends is required for the nhej ligation step. | Gene Ontology:
molecular function: biological process: cellular component: biological process: molecular function: molecular function: cellular component: biological process: |
BioCarta Pathways:
1: Telomeres, Telomerase, Cellular Aging, and Immortality |
KEGG Pathways: |
| Unique id : H010810_01
Name: Splicing factor, arginine/serine-rich 1 (splicing factor 2, alternate splicing factor) |
Sum Func: | SP Function: plays a role in preventing exon skipping, ensuring the accuracy of splicing and regulating alternative splicing. interacts with other spliceosomal components, via the rs domains, to form a bridge between the 5′ and 3′ splice site binding components, u1 snrnp and u2af. can stimulate binding of u1 snrnp to a 5′-splice-site-containing pre-mrna. binds to purine-rich rna sequences, either the octamer, 5′-rgaagaac-3′ (r=a or g) or the decamers, aggacagagc/aggacgaagc. three copies of the octamer constitute a powerful splicing enhancer in vitro, the asf/sf2 splicing enhancer (ase) which can specifically activate ase- dependent splicing. isoform asf-2 and isoform asf-3 act as splicing repressors. | Gene Ontology:
molecular function: biological process: biological process: cellular component: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H011501_01
Name: ADP-ribosylation factor 4 |
Sum Func: ADP-ribosylation factor 4 (ARF4) is a member of the human ARF gene family. These genes encode small guanine nucleotide-binding proteins that stimulate the ADP-ribosyltransferase activity of cholera toxin and play a role in vesicular trafficking and as activators of phospholipase D. The gene products include 6 ARF proteins and 11 ARF-like proteins and constitute 1 family of the RAS superfamily. The ARF proteins are categorized as class I (ARF1, ARF2,and ARF3), class II (ARF4 and ARF5) and class III (ARF6). The members of each class share a common gene organization. The ARF4 gene spans approximately 12kb and contains six exons and five introns. The ARF4 is the most divergent member of the human ARFs. Conflicting Map positions at 3p14 or 3p21 have been reported for this gene. | SP Function: gtp-binding protein that functions as an allosteric activator of the cholera toxin catalytic subunit, an adp- ribosyltransferase. involved in protein trafficking; may modulate vesicle budding and uncoating within the golgi apparatus. | Gene Ontology:
molecular function: molecular function: cellular component: molecular function: biological process: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H001876_01
Name: 3′-phosphoadenosine 5′-phosphosulfate synthase 1 |
Sum Func: Three-prime-phosphoadenosine 5-prime-phosphosulfate (PAPS) is the sulfate donor cosubstrate for all sulfotransferase (SULT) enzymes (Xu et al., 2000 [PubMed 10679223]). SULTs catalyze the sulfate conjugation of many endogenous and exogenous compounds, including drugs and other xenobiotics. In humans, PAPS is synthesized from adenosine 5-prime triphosphate (ATP) and inorganic sulfate by 2 isoforms, PAPSS1 and PAPSS2 (MIM 603005).[supplied by OMIM] | SP Function: bifunctional enzyme with both atp sulfurylase and aps kinase activity, which mediates two steps in the sulfate activation pathway. the first step is the transfer of a sulfate group to atp to yield adenosine 5′-phosphosulfate (aps), and the second step is the transfer of a phosphate group from atp to aps yielding 3′-phosphoadenylylsulfate (paps: activated sulfate donor used by sulfotransferase). in mammals, paps is the sole source of sulfate; aps appears to be only an intermediate in the sulfate- activation pathway. also involved in the biosynthesis of sulfated l-selectin ligands in endothelial cells. | Gene Ontology:
molecular function: molecular function: cellular component: biological process: molecular function: biological process: molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H008985_01
Name: Eukaryotic translation initiation factor 3, subunit 3 gamma, 40kDa |
Sum Func: | SP Function: binds to the 40s ribosome and promotes the binding of methionyl-tRNAi and mrna. associates with the p170 subunit of eif3. | Gene Ontology:
cellular component: biological process: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H001270_01
Name: Interferon, gamma-inducible protein 16 |
Sum Func: | SP Function: may function as a transcriptional repressor. could have a role in the regulation of hematopoietic differentiation through activation of unknown target genes. controls cellular proliferation by modulating the functions of cell cycle regulatory factors including p53 and the retinoblastoma protein. | Gene Ontology:
biological process: molecular function: biological process: biological process: cellular component: biological process: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002973_01
Name: RAB1A, member RAS oncogene family |
Sum Func: | SP Function: | Gene Ontology:
molecular function: cellular component: cellular component: biological process: |
BioCarta Pathways:
1: Rab GTPases Mark Targets In The Endocytotic Machinery |
KEGG Pathways: |
| Unique id : H003828_01
Name: Retinoblastoma binding protein 4 |
Sum Func: This gene encodes a ubiquitously expressed nuclear protein which belongs to a highly conserved subfamily of WD-repeat proteins. It is present in protein complexes involved in histone acetylation and chromatin assembly. It is part of the Mi-2 complex which has been implicated in chromatin remodeling and transcriptional repression associated with histone deacetylation. This encoded protein is also part of co-repressor complexes, which is an integral component of transcriptional silencing. It is found among several cellular proteins that bind directly to retinoblastoma protein to regulate cell proliferation. This protein also seems to be involved in transcriptional repression of E2F-responsive genes. | SP Function: complex that is thought to mediate chromatin assembly in dna replication and dna repair. assembles histone octamers onto replicating dna in vitro. caf-1 performs the first step of the nucleosome assembly process, bringing newly synthesized histones h3 and h4 to replicating dna; histones h2a/h2b can bind to this chromatin precursor subsequent to dna replication to complete the histone octamer. | Gene Ontology:
biological process: biological process: biological process: biological process: cellular component: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002889_01
Name: Cyclin G1 |
Sum Func: The eukaryotic cell cycle is governed by cyclin-dependent protein kinases (CDKs) whose activities are regulated by cyclins and CDK inhibitors. The protein encoded by this gene is a member of the cyclin family and contains the cyclin box. The encoded protein lacks the protein destabilizing (PEST) sequence that is present in other family members. Transcriptional activation of this gene can be induced by tumor protein p53. Two transcript variants encoding the same protein have been identified for this gene. | SP Function: may play a role in growth regulation. is associated with g2/m phase arrest in response to dna damage. may be an intermediate by which p53 mediates its role as an inhibitor of cellular proliferation (by similarity). | Gene Ontology:
biological process: biological process: biological process: cellular component: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003933_01
Name: General transcription factor IIA, 2, 12kDa |
Sum Func: | SP Function: tfiia is a component of the transcription machinery of rna polymerase ii and plays an important role in transcriptional activation. interacts with tbp (the tata-binding protein). | Gene Ontology:
molecular function: cellular component: biological process: cellular component: molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H009033_01
Name: Neuromedin U |
Sum Func: | SP Function: stimulates muscle contractions of specific regions of the gastrointestinal tract. in humans, nmu stimulates contractions of the ileum and urinary bladder. | Gene Ontology:
biological process: biological process: molecular function: biological process: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H001344_01
Name: Fusion (involved in t(12;16) in malignant liposarcoma) |
Sum Func: | SP Function: binds both single-stranded and double-stranded dna and promotes atp-independent annealing of complementary single- stranded dnas and d-loop formation in superhelical double-stranded DNA. may play a role in maintenance of genomic integrity. | Gene Ontology:
molecular function: molecular function: biological process: cellular component: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H012325_01
Name: Extra spindle poles like 1 (S. cerevisiae) |
Sum Func: | SP Function: caspase-like protease, which plays a central role in the chromosome segregation by cleaving the scc1/rad21 subunit of the cohesin complex at the onset of anaphase. during most of the cell cycle, it is inactivated by different mechanisms. | Gene Ontology:
biological process: cellular component: biological process: molecular function: biological process: biological process: biological process: biological process: cellular component: biological process: molecular function: biological process: biological process: |
BioCarta Pathways:
1: Agrin in Postsynaptic Differentiation 2: Effects of calcineurin in Keratinocyte Differentiation 3: Human Cytomegalovirus and Map Kinase Pathways 4: Keratinocyte Differentiation 5: MAP Kinase Signaling Pathway 6: Mechanism of Gene Regulation by Peroxisome Proliferators via PPARa(alpha) 7: Overview of telomerase RNA component gene hTerc Transcriptional Regulation 8: Overview of telomerase protein component gene hTert Transcriptional Regulation |
KEGG Pathways: |
| Unique id : H008280_01
Name: Era G-protein-like 1 (E. coli) |
Sum Func: | SP Function: | Gene Ontology:
molecular function: molecular function: molecular function: molecular function: biological process: cellular component: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H001406_01
Name: Huntingtin interacting protein-1-related |
Sum Func: | SP Function: component of clathrin-coated pits and vesicles, that may link the endocytic machinery to the actin cytoskeleton. | Gene Ontology:
molecular function: biological process: cellular component: cellular component: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H000325_01
Name: Nuclear transcription factor Y, beta |
Sum Func: The protein encoded by this gene is one subunit of a trimeric complex, forming a highly conserved transcription factor that binds with high specificity to CCAAT motifs in the promoter regions in a variety of genes. This gene product, subunit B, forms a tight dimer with the C subunit, a prerequisite for subunit A association. The resulting trimer binds to DNA with high specificity and affinity. Subunits B and C each contain a histone-like motif. Observation of the histone nature of these subunits is supported by two types of evidence; protein sequence alignments and experiments with mutants. | SP Function: stimulates the transcription of various genes by recognizing and binding to a ccaat motif in promoters, for example in type 1 collagen, albumin and beta-actin genes. | Gene Ontology:
cellular component: cellular component: biological process: molecular function: |
BioCarta Pathways:
1: Overview of telomerase RNA component gene hTerc Transcriptional Regulation |
KEGG Pathways: |
| Unique id : H002715_01
Name: Prohibitin |
Sum Func: Prohibitin is an evolutionarily conserved gene that is ubiquitously expressed. It is thought to be a negative regulator of cell proliferation and may be a tumor suppressor. Mutations in PHB have been linked to sporadic breast cancer. Prohibitin is expressed as two transcripts with varying lengths of 3′ untranslated region. The longer transcript is present at higher levels in proliferating tissues and cells, suggesting that this longer 3′ untranslated region may function as a trans-acting regulatory RNA. | SP Function: prohibitin inhibits dna synthesis. it has a role in regulating proliferation. as yet it is unclear if the protein or the mrna exhibits this effect. | Gene Ontology:
biological process: biological process: biological process: cellular component: cellular component: cellular component: biological process: biological process: cellular component: biological process: biological process: cellular component: molecular function: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H000723_01
Name: Angio-associated, migratory cell protein |
Sum Func: The gene product is an immunoglobulin-type protein. It is found to be expressed strongly in endothelial cells, cytotrophoblasts, and poorly differentiated colon adenocarcinoma cells found in lymphatics. The protein contains a heparin-binding domain and mediates heparin-sensitive cell adhesion. | SP Function: may have a function in migrating cells. | Gene Ontology:
biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002782_01
Name: WEE1 homolog (S. pombe) |
Sum Func: This gene encodes a nuclear protein, which is a tyrosine kinase belonging to the Ser/Thr family of protein kinases. This protein catalyzes the inhibitory tyrosine phosphorylation of CDC2/cyclin B kinase, and appears to coordinate the transition between DNA replication and mitosis by protecting the nucleus from cytoplasmically activated CDC2 kinase. | SP Function: may act as a negative regulator of entry into mitosis (g2 to m transition) by protecting the nucleus from cytoplasmically activated cyclin b1-complexed cdc2 before the onset of mitosis. its activity increases during s and g2 phases and decreases at m phase when it is hyperphosphorylated. a correlated decrease in protein level occurs at m/g1 phase, probably due to its degradation. specifically phosphorylates and inactivates cyclin b1-complexed cdc2 reaching a maximum during g2 phase and a minimum as cells enter m phase. phosphorylation of cyclin b1-cdc2 occurs exclusively on tyr-15 and phosphorylation of monomeric cdc2 does not occur. | Gene Ontology:
molecular function: biological process: cellular component: biological process: molecular function: molecular function: biological process: molecular function: |
BioCarta Pathways:
1: cdc25 and chk1 Regulatory Pathway in response to DNA damage 2: Cell Cycle: G2/M Checkpoint 3: RB Tumor Suppressor/Checkpoint Signaling in response to DNA damage |
KEGG Pathways:
2: Cell cycle 4: Apoptosis 6: Dorso-ventral axis formation 11: Focal adhesion 13: Tight junction 14: Gap junction 15: Toll-like receptor signaling pathway 16: Jak-STAT signaling pathway 17: Natural killer cell mediated cytotoxicity 18: T cell receptor signaling pathway 19: B cell receptor signaling pathway 20: Fc epsilon RI signaling pathway 21: Circadian rhythm 24: Regulation of actin cytoskeleton |
| Unique id : H012030_01
Name: Chromosome 1 open reading frame 8 |
Sum Func: | SP Function: | Gene Ontology:
cellular component: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H001314_01
Name: DEK oncogene (DNA binding) |
Sum Func: | SP Function: may have a function in the nucleus. | Gene Ontology:
molecular function: molecular function: molecular function: biological process: biological process: molecular function: cellular component: biological process: cellular component: biological process: molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H008388_01
Name: Melanoma antigen, family D, 1 |
Sum Func: This gene is a member of the melanoma antigen gene (MAGE) family. Most of the genes of this family encode tumor specific antigens that are not expressed in normal adult tissues except testis. Although the protein encoded by this gene shares strong homology with members of the MAGE family, it is expressed in almost all normal adult tissues. This gene has been demonstrated to be involved in the p75 neurotrophin receptor mediated programmed cell death pathway. Three transcript variants encoding two different isoforms have been found for this gene. | SP Function: involved in the apoptotic response after nerve growth factor (ngf) binding in neuronal cells. binds p75ntr and antagonizes its association with trka, inhibits cell cycle progression, and facilitates p75ntr-mediated apoptosis. may act as a regulator of the function of dlx family members. | Gene Ontology: | BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002127_01
Name: Dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A |
Sum Func: This gene encodes a member of the Dual-specificity tyrosine phosphorylation-regulated kinase (DYRK) family. This member contains a nuclear targeting signal sequence, a protein kinase domain, a leucine zipper motif, and a highly conservative 13-consecutive-histidine repeat. It catalyzes its autophosphorylation on serine/threonine and tyrosine residues. It may play a significant role in a signaling pathway regulating cell proliferation and may be involved in brain development. This gene is a homolog of Drosophila mnb (minibrain) gene and rat Dyrk gene. It is localized in the Down syndrome critical region of chromosome 21, and is considered to be a strong candidate gene for learning defects associated with Down syndrome. Alternative splicing of this gene generates several transcript variants differing from each other either in the 5′ region or in the 3′ part of the coding region. These variants encode at least five different isoforms. | SP Function: may play a role in a signaling pathway regulating nuclear functions of cell proliferaration. phosphorylates serine, threonine and tyrosine residues in its sequence and in exogenous substrates. | Gene Ontology:
molecular function: biological process: cellular component: biological process: molecular function: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H008179_01
Name: Mitochondrial ribosomal protein S18B |
Sum Func: Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that belongs to the ribosomal protein S18P family. The encoded protein is one of three that has significant sequence similarity to bacterial S18 proteins. The primary sequences of the three human mitochondrial S18 proteins are no more closely related to each other than they are to the prokaryotic S18 proteins. Pseudogenes corresponding to this gene are found on chromosomes 1q and 2q. | SP Function: | Gene Ontology:
cellular component: cellular component: cellular component: biological process: cellular component: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H013411_01
Name: Ribosomal protein, large P2 |
Sum Func: Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal phosphoprotein that is a component of the 60S subunit. The protein, which is a functional equivalent of the E. coli L7/L12 ribosomal protein, belongs to the L12P family of ribosomal proteins. It plays an important role in the elongation step of protein synthesis. Unlike most ribosomal proteins, which are basic, the encoded protein is acidic. Its C-terminal end is nearly identical to the C-terminal ends of the ribosomal phosphoproteins P0 and P1. The P2 protein can interact with P0 and P1 to form a pentameric complex consisting of P1 and P2 dimers, and a P0 monomer. The protein is located in the cytoplasm. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. | SP Function: plays an important role in the elongation step of protein synthesis. | Gene Ontology:
molecular function: cellular component: cellular component: biological process: cellular component: molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H010641_01
Name: Bromodomain adjacent to zinc finger domain, 1A |
Sum Func: | SP Function: | Gene Ontology:
molecular function: cellular component: biological process: biological process: cellular component: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H011767_01
Name: SH2-B homolog |
Sum Func: | SP Function: | Gene Ontology:
biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H008484_01
Name: Heterogeneous nuclear ribonucleoprotein R |
Sum Func: This gene belongs to the subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA binding proteins and they complex with heterogeneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus, some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene has three repeats of quasi-RRM domains that bind to RNAs and also contains a nuclear localization motif. | SP Function: component of ribonucleosomes, which are complexes of at least 20 other different heterogeneous nuclear ribonucleoproteins (hnrnp). hnrnp play an important role in processing of precursor mrna in the nucleus. | Gene Ontology:
molecular function: cellular component: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H001516_01
Name: Guanosine monophosphate reductase |
Sum Func: | SP Function: catalyzes the irreversible nadph-dependent deamination of gmp to imp. it functions in the conversion of nucleobase, nucleoside and nucleotide derivatives of g to a nucleotides, and in maintaining the intracellular balance of a and g nucleotides. | Gene Ontology:
molecular function: biological process: molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H001288_01
Name: Elongation factor RNA polymerase II |
Sum Func: | SP Function: elongation factor that can increase the catalytic rate of rna polymerase ii transcription by suppressing transient pausing by the polymerase at multiple sites along the DNA. | Gene Ontology:
biological process: biological process: cellular component: molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H001304_01
Name: ALL1-fused gene from chromosome 1q |
Sum Func: The gene variously symbolized ALL1, HRX, or MLL located on 11q23 has been demonstrated to be fused with a number of translocation partners in cases of leukemia. t(1;11)(q21;q23) translocations that fused the MLL gene to a gene on chromosomal band 1q21, AF1Q, in 2 infants with acute myelomonocytic leukemia have been demonstrated. The N-terminal portion of the MLL gene is critical for leukemogenesis in translocations involving band 11q23. The AF1Q cDNA sequence encodes 90 amino acids. The predicted wildtype AF1Q product was a 9-kD protein with no similarity to any other protein in the data banks. It was found to be highly expressed in the thymus but not in peripheral lymphoid tissues. In contrast to its restricted distribution in normal hematopoietic tissue, AF1Q was expressed in all leukemic cell lines tested. | SP Function: | Gene Ontology:
biological process: cellular component: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H012106_01
Name: Src-like-adaptor |
Sum Func: | SP Function: | Gene Ontology:
molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002217_01
Name: Dishevelled, dsh homolog 3 (Drosophila) |
Sum Func: This gene is a member of a multi-gene family which shares strong similarity with the Drosophila disheveled gene, dsh. The Drosophila disheveled gene encodes a cytoplasmic phosphoprotein that regulates cell proliferation. | SP Function: may play a role in the signal transduction pathway mediated by multiple wnt genes. | Gene Ontology:
biological process: biological process: biological process: cellular component: biological process: molecular function: biological process: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H011167_01
Name: Hypothetical protein MGC8721 |
Sum Func: | SP Function: | Gene Ontology: | BioCarta Pathways: | KEGG Pathways: |
| Unique id : H011548_01
Name: Fizzy/cell division cycle 20 related 1 (Drosophila) |
Sum Func: | SP Function: | Gene Ontology:
biological process: biological process: biological process: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002527_01
Name: Replication protein A3, 14kDa |
Sum Func: | SP Function: absolutely required for simian virus 40 dna replication in vitro. it participates in a very early step in initiation. rp-a is a single-stranded dna-binding protein. | Gene Ontology:
biological process: biological process: cellular component: molecular function: cellular component: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H000388_01
Name: ATP synthase, H+ transporting, mitochondrial F0 complex, subunit F6 |
Sum Func: Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. It is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, F0, which comprises the proton channel. The F1 complex consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled in a ratio of 3 alpha, 3 beta, and a single representative of the other 3. The F0 seems to have nine subunits (a, b, c, d, e, f, g, F6 and 8). This gene encodes the F6 subunit of the F0 complex, required for F1 and F0 interactions. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. | SP Function: this is one of the chains of the nonenzymatic component (cf(0) subunit) of the mitochondrial atpase complex. f6 seems to be part of the stalk that links cf(0) to cf(1). also involved in the restoration of oligomycin-sensitive atpase activity to depleted f1-f0 complexes. | Gene Ontology:
biological process: biological process: molecular function: molecular function: cellular component: cellular component: cellular component: biological process: cellular component: molecular function: |
BioCarta Pathways: | KEGG Pathways:
3: Epithelial cell signaling in Helicobacter pylori infection |
| Unique id : H010946_01
Name: Artemin |
Sum Func: The protein encoded by this gene is a member of the glial cell line-derived neurotrophic factor (GDNF) family of ligands which are a group of ligands within the TGF-beta superfamily of signaling molecules. GDNFs are unique in having neurotrophic properties and have potential use for gene therapy in neurodegenerative disease. Artemin has been shown in culture to support the survival of a number of periferal neuron populations and at least one population of dopaminergic CNS neurons. Its role in the PNS and CNS is further substantiated by its expression pattern in the proximity of these neurons. This protein is a ligand for the RET receptor and uses GFR-alpha 3 as a coreceptor. Four alternatively spliced transcripts have been described, two of which encode the same protein. | SP Function: | Gene Ontology:
biological process: molecular function: biological process: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H009706_01
Name: RAB1A, member RAS oncogene family |
Sum Func: | SP Function: | Gene Ontology:
molecular function: cellular component: cellular component: biological process: |
BioCarta Pathways:
1: Rab GTPases Mark Targets In The Endocytotic Machinery |
KEGG Pathways: |
| Unique id : H011214_01
Name: Williams-Beuren syndrome chromosome region 1 |
Sum Func: This gene encodes one of the translation initiation factors, which functions to stimulate the initiation of protein synthesis at the level of mRNA utilization. This gene is deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. Alternative splicing of this gene generates 2 transcript variants. | SP Function: stimulates protein translation. may stimulate the activities of eif4a, eif4b and eif4f during the steps involving mrna binding and utilization in the initiation of protein biosynthesis. binds mrna. | Gene Ontology:
molecular function: cellular component: biological process: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H012850_01
Name: Nucleosome assembly protein 1-like 1 |
Sum Func: This gene encodes a member of the nucleosome assembly protein (NAP) family. This protein participates in DNA replication and may play a role in modulating chromatin formation and contribute to the regulation of cell proliferation. Alternative splicing of this gene results in several transcript variants; however, not all have been fully described. | SP Function: may be involved in modulating chromatin formation and contribute to regulation of cell proliferation. | Gene Ontology:
biological process: cellular component: biological process: cellular component: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H007376_01
Name: Programmed cell death 4 (neoplastic transformation inhibitor) |
Sum Func: This gene encodes a protein localized to the nucleus in proliferating cells. Expression of this gene is modulated by cytokines in natural killer and T cells. The gene product is thought to play a role in apoptosis but the specific role has not yet been determined. Two transcripts encoding different isoforms have been identified. | SP Function: | Gene Ontology:
biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H007641_01
Name: Solute carrier family 12 (potassium/chloride transporters), member 4 |
Sum Func: | SP Function: | Gene Ontology:
biological process: molecular function: biological process: biological process: cellular component: biological process: biological process: molecular function: biological process: biological process: biological process: biological process: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H001333_01
Name: Phosphatidylinositol binding clathrin assembly protein |
Sum Func: | SP Function: assembly protein recruiting clathrin and adaptor protein complex 2 (ap2) to cell membranes at sites of coated-pit formation and clathrin-vesicle assembly. may be required to determine the amount of membrane to be recycled, possibly by regulating the size of the clathrin cage. involved in ap2-dependent clathrin-mediated endocytosis at the neuromuscular junction. | Gene Ontology:
cellular component: biological process: molecular function: cellular component: molecular function: molecular function: biological process: biological process: |
BioCarta Pathways:
1: Endocytotic role of NDK, Phosphins and Dynamin |
KEGG Pathways: |
| Unique id : H008039_01
Name: DnaJ (Hsp40) homolog, subfamily B, member 6 |
Sum Func: This gene encodes a member of the DNAJ protein family. DNAJ family members are characterized by a highly conserved amino acid stretch called the ‘J-domain’ and function as one of the two major classes of molecular chaperones involved in a wide range of cellular events, such as protein folding and oligomeric protein complex assembly. This family member may also play a role in polyglutamine aggregation in specific neurons. Alternative splicing of this gene results in multiple transcript variants; however, not all variants have been fully described. | SP Function: | Gene Ontology:
cellular component: biological process: biological process: molecular function: |
BioCarta Pathways:
1: Prion Pathway |
KEGG Pathways: |
| Unique id : H008319_01
Name: Pogo transposable element with ZNF domain |
Sum Func: The protein encoded by this gene appears to be a zinc finger protein containing a transposase domain at the C-terminus. This protein was found to interact with the transcription factor SP1 in a yeast two-hybrid system. At least three alternatively spliced transcript variants encoding distinct isoforms have been observed. | SP Function: | Gene Ontology: | BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003056_01
Name: FOS-like antigen 2 |
Sum Func: The Fos gene family consists of 4 members: FOS, FOSB, FOSL1, and FOSL2. These genes encode leucine zipper proteins that can dimerize with proteins of the JUN family, thereby forming the transcription factor complex AP-1. As such, the FOS proteins have been implicated as regulators of cell proliferation, differentiation, and transformation. | SP Function: | Gene Ontology:
biological process: cellular component: biological process: molecular function: |
BioCarta Pathways:
1: Bone Remodelling |
KEGG Pathways: |
| Unique id : H012188_01
Name: E2F transcription factor 4, p107/p130-binding |
Sum Func: The protein encoded by this gene is a member of the E2F family of transcription factors. The E2F family plays a crucial role in the control of cell cycle and action of tumor suppressor proteins and is also a target of the transforming proteins of small DNA tumor viruses. The E2F proteins contain several evolutionally conserved domains found in most members of the family. These domains include a DNA binding domain, a dimerization domain which determines interaction with the differentiation regulated transcription factor proteins (DP), a transactivation domain enriched in acidic amino acids, and a tumor suppressor protein association domain which is embedded within the transactivation domain. This protein binds to all three of the tumor suppressor proteins pRB, p107 and p130, but with higher affinity to the last two. It plays an important role in the suppression of proliferation-associated genes, and its gene mutation and increased expression may be associated with human cancer. | SP Function: transcription activator that binds dna cooperatively with dp proteins through the e2 recognition site, 5′-tttc[cg]cgc- 3′ found in the promoter region of a number of genes whose products are involved in cell cycle regulation or in dna replication. the drtf1/e2f complex functions in the control of cell-cycle progression from g1 to s phase. e2f-4 binds with high affinity to p107 and p130. in some instances, can also bind rb protein. | Gene Ontology:
cellular component: molecular function: biological process: biological process: molecular function: cellular component: |
BioCarta Pathways:
1: METS affect on Macrophage Differentiation |
KEGG Pathways: |
| Unique id : H000641_01
Name: Solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 5 |
Sum Func: | SP Function: catalyzes the exchange of adp and atp across the mitochondrial inner membrane. | Gene Ontology:
molecular function: molecular function: cellular component: cellular component: biological process: cellular component: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H012177_01
Name: FLJ44715 gene product |
Sum Func: The protein encoded by this gene is a member of the SEC24 subfamily of the SEC23/SEC24 family, which is involved in vesicle trafficking. The encoded protein has similarity to yeast Sec24p component of COPII. COPII is the coat protein complex responsible for vesicle budding from the ER. The product of this gene may play a role in shaping the vesicle, as well as in cargo selection and concentration. Alternatively spliced transcript variants encoding the same protein have been identified. | SP Function: component of the copii coat, that covers er-derived vesicles involved in transport from the endoplasmic reticulum to the golgi apparatus. copii acts in the cytoplasm to promote the transport of secretory, plasma membrane, and vacuolar proteins from the endoplasmic reticulum to the golgi complex. | Gene Ontology:
cellular component: biological process: cellular component: molecular function: cellular component: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H000555_01
Name: MAD2 mitotic arrest deficient-like 1 (yeast) |
Sum Func: MAD2L1 is a component of the mitotic spindle assembly checkpoint that prevents the onset of anaphase until all chromosomes are properly aligned at the metaphase plate. MAD2L1 is related to the MAD2L2 gene located on chromosome 1. A MAD2 pseudogene has been mapped to chromosome 14. | SP Function: required for the execution of the mitotic checkpoint which monitors the process of kinetochore-spindle attachment and delays the onset of anaphase when this process is not complete. it inhibits the activity of the anaphase promoting complex by sequestering cdc20 until all chromosomes are aligned at the metaphase plate. | Gene Ontology:
biological process: cellular component: biological process: biological process: cellular component: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H010542_01
Name: Zinc finger RNA binding protein |
Sum Func: | SP Function: | Gene Ontology:
molecular function: cellular component: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H001079_01
Name: Sodium channel, voltage-gated, type IV, alpha |
Sum Func: | SP Function: this protein mediates the voltage-dependent sodium ion permeability of excitable membranes. assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a sodium-selective channel through which na+ ions may pass in accordance with their electrochemical gradient. this sodium channel may be present in both denervated and innervated skeletal muscle. | Gene Ontology:
molecular function: biological process: cellular component: biological process: biological process: molecular function: cellular component: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H004613_01
Name: Telomeric repeat binding factor 2 |
Sum Func: This gene encodes a telomere specific protein, TERF2, which is a component of the telomere nucleoprotein complex. This protein is present at telomeres in metaphase of the cell cycle, is a second negative regulator of telomere length and plays a key role in the protective activity of telomeres. While having similar telomere binding activity and domain organization, TERF2 differs from TERF1 in that its N terminus is basic rather than acidic. | SP Function: binds the telomeric double-stranded ttaggg repeat. protects against end-to-end fusion of chromosomes and plays a role in successful progression through the cell division cycle. | Gene Ontology:
biological process: cellular component: cellular component: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002746_01
Name: TNF receptor-associated factor 5 |
Sum Func: The protein encoded by this gene is a member of the TNF receptor associated factor (TRAF) protein family. TRAF proteins are associated with, and mediate signal transduction from members of the TNF receptor superfamily. This protein has been found to be one of the components of a multiple protein complex associated with the CD40 cytoplasmic domain, which mediates TNF induced NF-kappa B activation and protection from cell death. This protein has also been implicated in the signaling events mediated by various other receptors including CD27, CD30, and lymphotoxin-beta receptor. Two alternatively spliced transcript variants encoding the same protein have been reported. | SP Function: | Gene Ontology:
biological process: biological process: biological process: molecular function: biological process: cellular component: molecular function: molecular function: |
BioCarta Pathways:
1: TACI and BCMA stimulation of B cell immune responses. |
KEGG Pathways: |
| Unique id : H000600_01
Name: Suppressor of cytokine signaling 3 |
Sum Func: This gene encodes a member of the STAT-induced STAT inhibitor (SSI), also known as suppressor of cytokine signaling (SOCS), family. SSI family members are cytokine-inducible negative regulators of cytokine signaling. The expression of this gene is induced by various cytokines, including IL6, IL10, and interferon (IFN)-gamma. The protein encoded by this gene can bind to JAK2 kinase, and inhibit the activity of JAK2 kinase. Studies of the mouse counterpart of this gene suggested the roles of this gene in the negative regulation of fetal liver hematopoiesis, and placental development. | SP Function: socs family proteins form part of a classical negative feedback system that regulates cytokine signal transduction. socs3 is involved in negative regulation of cytokines that signal through the jak/stat pathway. inhibits cytokine signal transduction by binding to tyrosine kinase receptors including gp130, lif, erythropoietin, insulin, il12, gcsf and leptin receptors. binding to jak2 inhibits its kinase activity. suppresses fetal liver erythropoiesis. regulates onset and maintenance of allergic responses mediated by t-helper type 2 cells. regulates il-6 signaling in vivo (by similarity). | Gene Ontology:
biological process: biological process: |
BioCarta Pathways:
1: IL22 Soluble Receptor Signaling Pathway 2: IL-2 Receptor Beta Chain in T cell Activation |
KEGG Pathways: |
| Unique id : H000438_01
Name: CASP8 and FADD-like apoptosis regulator |
Sum Func: | SP Function: apoptosis regulator protein which may function as a crucial link between cell survival and cell death pathways in mammalian cells. acts as an inhibitor of tnfrsf6 mediated apoptosis. a proteolytic fragment (p43) is likely retained in the death-inducing signaling complex (disc) thereby blocking further recruitment and processing of caspase-8 at the complex. full length and shorter isoforms have been shown either to induce apoptosis or to reduce tnfrsf-triggered apoptosis. lacks enzymatic (caspase) activity. | Gene Ontology:
biological process: molecular function: biological process: biological process: molecular function: biological process: biological process: molecular function: |
BioCarta Pathways:
1: HIV-I Nef: negative effector of Fas and TNF 2: Induction of apoptosis through DR3 and DR4/5 Death Receptors 3: FAS signaling pathway ( CD95 ) 4: IL-2 Receptor Beta Chain in T cell Activation |
KEGG Pathways: |
| Unique id : H003305_01
Name: Ribosomal protein S6 kinase, 70kDa, polypeptide 1 |
Sum Func: This gene encodes a member of the RSK (ribosomal S6 kinase) family of serine/threonine kinases. This kinase contains 2 non-identical kinase catalytic domains and phosphorylates several residues of the S6 ribosomal protein. The kinase activity of this protein leads to an increase in protein synthesis and cell proliferation. Amplification of the region of DNA encoding this gene and overexpression of this kinase are seen in some breast cancer cell lines. Alternate translational start sites have been described and alternate transcriptional splice variants have been observed but have not been thoroughly characterized. | SP Function: phosphorylates specifically ribosomal protein s6 in response to insulin or several classes of mitogens. | Gene Ontology:
molecular function: biological process: molecular function: molecular function: biological process: molecular function: |
BioCarta Pathways:
1: CTCF: First Multivalent Nuclear Factor 2: Regulation of eIF4e and p70 S6 Kinase 3: Skeletal muscle hypertrophy is regulated via AKT/mTOR pathway 4: IL-2 Receptor Beta Chain in T cell Activation 5: IL 4 signaling pathway 6: mTOR Signaling Pathway 7: MAP Kinase Signaling Pathway 8: NFAT and Hypertrophy of the heart (Transcription in the broken heart) 9: Phosphoinositides and their downstream targets. 10: Rac 1 cell motility signaling pathway |
KEGG Pathways:
2: Cell cycle 4: Apoptosis 6: Dorso-ventral axis formation 11: Focal adhesion 13: Tight junction 14: Gap junction 15: Toll-like receptor signaling pathway 16: Jak-STAT signaling pathway 17: Natural killer cell mediated cytotoxicity 18: T cell receptor signaling pathway 19: B cell receptor signaling pathway 20: Fc epsilon RI signaling pathway 21: Circadian rhythm 24: Regulation of actin cytoskeleton |
| Unique id : H003718_01
Name: Interleukin 2 receptor, gamma (severe combined immunodeficiency) |
Sum Func: The interleukin 2 (IL2) receptor gamma chain (IL2RG), an important signalling component of many interleukin receptors (IL2,IL4,IL7,IL9, and IL15), is thus referred to as the common gamma chain. Mutations in this X-chromosome-linked gene cause X-linked severe combined immunodeficiency (XSCID). | SP Function: common subunit for the receptors for a variety of interleukins. | Gene Ontology:
biological process: molecular function: biological process: cellular component: molecular function: molecular function: molecular function: biological process: molecular function: biological process: |
BioCarta Pathways:
1: IL 2 signaling pathway 2: IL-2 Receptor Beta Chain in T cell Activation 3: IL 4 signaling pathway 4: IL-7 Signal Transduction |
KEGG Pathways: |
| Unique id : H013244_01
Name: N-myc (and STAT) interactor |
Sum Func: NMYC interactor (NMI) encodes a protein that interacts with NMYC and CMYC (two members of the oncogene Myc family), and other transcription factors containing a Zip, HLH, or HLH-Zip motif. The NMI protein also interacts with all STATs except STAT2 and augments STAT-mediated transcription in response to cytokines IL2 and IFN-gamma. The NMI mRNA has low expression levels in all human fetal and adult tissues tested except brain and has high expression in cancer cell line-myeloid leukemias. | SP Function: may be involved in augmenting coactivator protein recruitment to a group of sequence-specific transcription factors. augments cytokine-mediated stat transcription. enhances cbp/p300 coactivator protein recruitment to stat1 and stat5. | Gene Ontology:
biological process: cellular component: biological process: molecular function: biological process: |
BioCarta Pathways:
1: IL-2 Receptor Beta Chain in T cell Activation 2: IL-7 Signal Transduction |
KEGG Pathways: |
| Unique id : H003650_01
Name: Interleukin 2 receptor, alpha |
Sum Func: The interleukin 2 (IL2) receptor alpha (IL2RA) and beta (IL2RB) chains, together with the common gamma chain (IL2RG), constitute the high-affinity IL2 receptor. Homodimeric alpha chains (IL2RA) result in low-affinity receptor, while homodimeric beta (IL2RB) chains produce a medium-affinity receptor. Normally an integral-membrane protein, soluble IL2RA has been isolated and determined to result from extracellular proteolyisis. Alternately-spliced IL2RA mRNAs have been isolated, but the significance of each is presently unknown. | SP Function: receptor for interleukin-2. | Gene Ontology:
biological process: biological process: biological process: biological process: cellular component: molecular function: cellular component: molecular function: biological process: |
BioCarta Pathways:
1: IL 2 signaling pathway 2: IL-2 Receptor Beta Chain in T cell Activation 3: Th1/Th2 Differentiation 4: Role of Tob in T-cell activation |
KEGG Pathways: |
| Unique id : H001974_01
Name: BCL2-antagonist of cell death |
Sum Func: The protein encoded by this gene is a member of the BCL-2 family. BCL-2 family members are known to be regulators of programmed cell death. This protein positively regulates cell apoptosis by forming heterodimers with BCL-xL and BCL-2, and reversing their death repressor activity. Proapoptotic activity of this protein is regulated through its phosphorylation. Protein kinases AKT and MAP kinase, as well as protein phosphatase calcineurin were found to be involved in the regulation of this protein. Alternative splicing of this gene results in two transcript variants which encode the same isoform. | SP Function: promotes cell death. successfully competes for the binding to bcl-x(l), bcl-2 and bcl-w, thereby affecting the level of heterodimerization of these proteins with bax. can reverse the death repressor activity of bcl-x(l), but not that of bcl-2 (by similarity). appears to act as a link between growth factor receptor signaling and the apoptotic pathways. | Gene Ontology:
biological process: cellular component: biological process: cellular component: molecular function: |
BioCarta Pathways:
1: Role of nicotinic acetylcholine receptors in the regulation of apoptosis 2: AKT Signaling Pathway 3: Regulation of BAD phosphorylation 4: Ceramide Signaling Pathway 5: Apoptotic Signaling in Response to DNA Damage 6: Inhibition of Cellular Proliferation by Gleevec 7: Multiple antiapoptotic pathways from IGF-1R signaling lead to BAD phosphorylation 8: IL-2 Receptor Beta Chain in T cell Activation 9: Phosphoinositides and their downstream targets. 10: Ras Signaling Pathway 11: Trefoil Factors Initiate Mucosal Healing |
KEGG Pathways: |
| Unique id : H008261_01
Name: RAS guanyl releasing protein 2 (calcium and DAG-regulated) |
Sum Func: The protein encoded by this gene is a brain-enriched nucleotide exchanged factor that contains an N-terminal GEF domain, 2 tandem repeats of EF-hand calcium-binding motifs, and a C-terminal diacylglycerol/phorbol ester-binding domain. This protein can activate small GTPases, including RAS and RAP1/RAS3. The nucleotide exchange activity of this protein can be stimulated by calcium and diacylglycerol. Two alternatively spliced transcript variants of this gene, encoding distinct isoforms, have been reported. | SP Function: | Gene Ontology:
molecular function: biological process: molecular function: cellular component: molecular function: cellular component: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003628_01
Name: Dystroglycan 1 (dystrophin-associated glycoprotein 1) |
Sum Func: Dystroglycan is a laminin binding component of the dystrophin-glycoprotein complex which provides a linkage between the subsarcolemmal cytoskeleton and the extracellular matrix. Dystroglycan 1 is a candidate gene for the site of the mutation in autosomal recessive muscular dystrophies. The dramatic reduction of dystroglycan 1 in Duchenne muscular dystrophy leads to a loss of linkage between the sarcolemma and extracellular matrix, rendering muscle fibers more susceptible to necrosis. Dystroglycan also functions as dual receptor for agrin and laminin-2 in the Schwann cell membrane. The muscle and nonmuscle isoforms of dystroglycan differ by carbohydrate moieties but not protein sequence. | SP Function: forms part of the dystrophin-associated protein complex (dapc) which may link the cytoskeleton to the extracellular matrix. alpha-dystroglycan functions as a laminin receptor. binds to several types of arenaviruses. is a target for the entry of mycobacterium leprae into peripheral nerve schwann cells. | Gene Ontology:
cellular component: molecular function: cellular component: cellular component: molecular function: cellular component: biological process: molecular function: biological process: |
BioCarta Pathways:
1: Agrin in Postsynaptic Differentiation |
KEGG Pathways: |
| Unique id : H003212_01
Name: Zeta-chain (TCR) associated protein kinase 70kDa |
Sum Func: | SP Function: associates with the t-cell antigen receptor zeta chain (cd3z). plays a role in lymphocyte activation. | Gene Ontology:
molecular function: biological process: biological process: molecular function: biological process: molecular function: molecular function: |
BioCarta Pathways:
1: Activation of Csk by cAMP-dependent Protein Kinase Inhibits Signaling through the T Cell Receptor 2: T Cell Receptor Signaling Pathway 3: Lck and Fyn tyrosine kinases in initiation of TCR Activation |
KEGG Pathways:
2: Cell cycle 8: Gap junction 10: Natural killer cell mediated cytotoxicity 11: T cell receptor signaling pathway 12: B cell receptor signaling pathway 13: Fc epsilon RI signaling pathway 14: Leukocyte transendothelial migration 16: Regulation of actin cytoskeleton 18: Adipocytokine signaling pathway 19: Epithelial cell signaling in Helicobacter pylori infection |
| Unique id : H001748_01
Name: Inositol 1,4,5-trisphosphate 3-kinase B |
Sum Func: The protein encoded by this protein regulates inositol phosphate metabolism by phosphorylation of second messenger inositol 1,4,5-trisphosphate to Ins(1,3,4,5)P4. The activity of this encoded protein is responsible for regulating the levels of a large number of inositol polyphosphates that are important in cellular signaling. Both calcium/calmodulin and protein phosphorylation mechanisms control its activity. | SP Function: | Gene Ontology:
molecular function: molecular function: molecular function: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H001718_01
Name: Inositol 1,4,5-trisphosphate 3-kinase A |
Sum Func: Regulates inositol phosphate metabolism by phosphorylation of second messenger inositol 1,4,5-trisphosphate to Ins(1,3,4,5)P4. The activity of the inositol 1,4,5-trisphosphate 3-kinase is responsible for regulating the levels of a large number of inositol polyphosphates that are important in cellular signaling. Both calcium/calmodulin and protein phosphorylation mechanisms control its activity. It is also a substrate for the cyclic AMP-dependent protein kinase, calcium/calmodulin- dependent protein kinase II, and protein kinase C in vitro. ITPKA and ITPKB are 68% identical in the C-terminus region. | SP Function: | Gene Ontology:
molecular function: molecular function: molecular function: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H011731_01
Name: P21 (CDKN1A)-activated kinase 3 |
Sum Func: PAK proteins are critical effectors that link Rho GTPases to cytoskeleton reorganization and nuclear signaling. PAK proteins, a family of serine/threonine p21-activating kinases, serve as targets for the small GTP binding proteins Cdc42 and RAC and have been implicated in a wide range of biological activities. The protein encoded by this gene forms an activated complex with GTP-bound RAS-like (P21), CDC2 and RAC1 proteins which then catalyzes a variety of targets. This protein may be necessary for dendritic development and for the rapid cytoskeletal reorganization in dendritic spines associated with synaptic plasticity. A point mutation in this gene has been linked to nonsyndromic X-linked mental retardation. | SP Function: the activated kinase acts on a variety of targets. | Gene Ontology:
molecular function: biological process: molecular function: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H000543_01
Name: Linker for activation of T cells |
Sum Func: | SP Function: involved in t-cell antigen receptor (tcr) signal transduction pathway. may play an important role downstream of the activation of protein tyrosine kinases (ptks). | Gene Ontology:
molecular function: biological process: cellular component: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H013901_01
Name: P21(CDKN1A)-activated kinase 4 |
Sum Func: PAK proteins are critical effectors that link Rho GTPases to cytoskeleton reorganization and nuclear signaling. PAK proteins, a family of serine/threonine p21-activating kinases, include PAK1, PAK2, PAK3 and PAK4. PAK proteins serve as targets for the small GTP binding proteins Cdc42 and Rac and have been implicated in a wide range of biological activities. PAK4 interacts specifically with the GTP-bound form of Cdc42Hs and weakly activates the JNK family of MAP kinases. PAK4 is a mediator of filopodia formation and may play a role in the reorganization of the actin cytoskeleton. | SP Function: activates the jnk pathway. implicated in the reorganization of the actin cytoskeleton and in the formation of filopodia. | Gene Ontology:
molecular function: cellular component: biological process: biological process: molecular function: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H012554_01
Name: RAS guanyl releasing protein 1 (calcium and DAG-regulated) |
Sum Func: RAS guanyl nucleotide-releasing protein (RASGRP) is a member of a family of genes characterized by the presence of a Ras superfamily guanine nucleotide exchange factor (GEF) domain. The corresponding rat gene rbc7, which lacks a 5-prime exon, represents a 5-prime and 3-prime truncated version of a larger normal rat transcript that encodes a predicted 90-kD protein. This shorter transcript has not been found in humans. | SP Function: | Gene Ontology:
molecular function: biological process: molecular function: molecular function: cellular component: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H015286_01
Name: P21 (CDKN1A)-activated kinase 2 |
Sum Func: The p21 activated kinases (PAK) are critical effectors that link Rho GTPases to cytoskeleton reorganization and nuclear signaling. The PAK proteins are a family of serine/threonine kinases that serve as targets for the small GTP binding proteins, CDC42 and RAC1, and have been implicated in a wide range of biological activities. The protein encoded by this gene is activated by proteolytic cleavage during caspase-mediated apoptosis, and may play a role in regulating the apoptotic events in the dying cell. | SP Function: the activated kinase acts on a variety of targets. phosphorylates ribosomal protein s6, histone h4 and myelin basic protein. | Gene Ontology:
molecular function: biological process: biological process: molecular function: biological process: molecular function: |
BioCarta Pathways:
1: HIV-I Nef: negative effector of Fas and TNF 2: FAS signaling pathway ( CD95 ) 3: Fc Epsilon Receptor I Signaling in Mast Cells 4: MAP Kinase Signaling Pathway 5: TNFR1 Signaling Pathway |
KEGG Pathways: |
| Unique id : H008413_01
Name: Nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 1 |
Sum Func: This gene encodes a divergent member of the I-kappa-B family of proteins. Its function has not been determined. The gene lies within the major histocompatibility complex (MHC) class I region on chromosome 6. | SP Function: | Gene Ontology: | BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002812_01
Name: Protein tyrosine phosphatase, receptor type, C |
Sum Func: The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP contains an extracellular domain, a single transmembrane segment and two tandem intracytoplasmic catalytic domains, and thus belongs to receptor type PTP. This gene is specifically expressed in hematopoietic cells. This PTP has been shown to be an essential regulator of T- and B-cell antigen receptor signaling. It functions through either direct interaction with components of the antigen receptor complexes, or by activating various Src family kinases required for the antigen receptor signaling. This PTP also suppresses JAK kinases, and thus functions as a regulator of cytokine receptor signaling. Four alternatively spliced transcripts variants of this gene, which encode distinct isoforms, have been reported. | SP Function: required for t-cell activation through the antigen receptor. the first ptpase domain has enzymatic activity, while the second one seems to affect the substrate specificity of the first one. | Gene Ontology:
biological process: molecular function: cellular component: biological process: molecular function: molecular function: |
BioCarta Pathways:
1: Activation of Csk by cAMP-dependent Protein Kinase Inhibits Signaling through the T Cell Receptor 2: B Lymphocyte Cell Surface Molecules 3: Lck and Fyn tyrosine kinases in initiation of TCR Activation 4: T Cytotoxic Cell Surface Molecules 5: T Helper Cell Surface Molecules |
KEGG Pathways:
2: Cell cycle 3: Cell adhesion molecules (CAMs) 6: Natural killer cell mediated cytotoxicity 7: T cell receptor signaling pathway 8: B cell receptor signaling pathway 9: Leukocyte transendothelial migration 11: Adipocytokine signaling pathway 13: Epithelial cell signaling in Helicobacter pylori infection |
| Unique id : H003651_01
Name: EPH receptor B2 |
Sum Func: Ephrin receptors and their ligands, the ephrins, mediate numerous developmental processes, particularly in the nervous system. Based on their structures and sequence relationships, ephrins are divided into the ephrin-A (EFNA) class, which are anchored to the membrane by a glycosylphosphatidylinositol linkage, and the ephrin-B (EFNB) class, which are transmembrane proteins. The Eph family of receptors are divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. Ephrin receptors make up the largest subgroup of the receptor tyrosine kinase (RTK) family. The protein encoded by this gene is a receptor for ephrin-B family members. | SP Function: receptor for members of the ephrin-b family. | Gene Ontology:
molecular function: cellular component: biological process: biological process: molecular function: molecular function: molecular function: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways:
3: Cytokine-cytokine receptor interaction 4: Apoptosis 5: Dorso-ventral axis formation 10: Gap junction 11: Hematopoietic cell lineage 13: Regulation of actin cytoskeleton 17: Dentatorubropallidoluysian atrophy (DRPLA) 18: Epithelial cell signaling in Helicobacter pylori infection |
| Unique id : H002447_01
Name: Nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha |
Sum Func: NFKB1 (MIM 164011) or NFKB2 (MIM 164012) is bound to REL (MIM 164910), RELA (MIM 164014), or RELB (MIM 604758) to form the NFKB complex. The NFKB complex is inhibited by I-kappa-B proteins (NFKBIA or NFKBIB, MIM 604495), which inactivate NF-kappa-B by trapping it in the cytoplasm. Phosphorylation of serine residues on the I-kappa-B proteins by kinases (IKBKA, MIM 600664, or IKBKB, MIM 603258) marks them for destruction via the ubiquitination pathway, thereby allowing activation of the NF-kappa-B complex. Activated NFKB complex translocates into the nucleus and binds DNA at kappa-B-binding motifs such as 5-prime GGGRNNYYCC 3-prime or 5-prime HGGARNYYCC 3-prime (where H is A, C, or T; R is an A or G purine; and Y is a C or T pyrimidine).[supplied by OMIM] | SP Function: inhibits nf-kappa-b by complexing with and trapping it in the cytoplasm. may be involved in regulation of transcriptional responses to nf-kappa-b, including cell adhesion, immune and proinflammatory responses, apoptosis, differentiation and growth. controlled by sequential serine-phosphorylation, ubiquitination and degradation. tyrosine-phosphorylation could only lead to dissociation from nf-kappa-b. | Gene Ontology:
biological process: cellular component: biological process: biological process: molecular function: |
BioCarta Pathways:
1: The 4-1BB-dependent immune response 2: HIV-I Nef: negative effector of Fas and TNF 3: Acetylation and Deacetylation of RelA in The Nucleus 4: Influence of Ras and Rho proteins on G1 to S Transition 5: AKT Signaling Pathway 6: ATM Signaling Pathway 7: CD40L Signaling Pathway 8: Cadmium induces DNA synthesis and proliferation in macrophages 9: Induction of apoptosis through DR3 and DR4/5 Death Receptors 10: Erythropoietin mediated neuroprotection through NF-kB 11: fMLP induced chemokine gene expression in HMC-1 cells 12: Signal transduction through IL1R 13: Keratinocyte Differentiation 14: MAP Kinase Signaling Pathway 15: NF-kB Signaling Pathway 16: NFkB activation by Nontypeable Hemophilus influenzae 17: Activation of PKC through G protein coupled receptor 18: Mechanism of Gene Regulation by Peroxisome Proliferators via PPARa(alpha) 19: Double Stranded RNA Induced Gene Expression 20: TNF/Stress Related Signaling 21: T Cell Receptor Signaling Pathway 22: Chaperones modulate interferon Signaling Pathway 23: TNFR2 Signaling Pathway 24: Toll-Like Receptor Pathway 25: Neuropeptides VIP and PACAP inhibit the apoptosis of activated T cells |
KEGG Pathways: |
| Unique id : H012662_01
Name: Nuclear factor of activated T-cells 5, tonicity-responsive |
Sum Func: The product of this gene is a member of the nuclear factors of activated T cells family of transcription factors. Proteins belonging to this family play a central role in inducible gene transcription during the immune response. This protein regulates gene expression induced by osmotic stress in mammalian cells. Unlike monomeric members of this protein family, this protein exists as a homodimer and forms stable dimers with DNA elements. Five transcript variants encoding three different isoforms have been identified for this gene. | SP Function: plays a role in the inducible expression of genes. regulates hypertonicity-induced cellular accumulation of osmolytes. | Gene Ontology:
molecular function: biological process: cellular component: biological process: biological process: molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H001340_01
Name: Lymphocyte cytosolic protein 2 (SH2 domain containing leukocyte protein of 76kDa) |
Sum Func: SLP-76 was originally identified as a substrate of the ZAP-70 protein tyrosine kinase following T cell receptor (TCR) ligation in the leukemic T cell line Jurkat. The SLP-76 locus has been localized to human chromosome 5q33 and the gene structure has been partially characterized in mice. The human and murine cDNAs both encode 533 amino acid proteins that are 72% identical and comprised of three modular domains. The NH2-terminus contains an acidic region that includes a PEST domain and several tyrosine residues which are phosphorylated following TCR ligation. SLP-76 also contains a central proline-rich domain and a COOH-terminal SH2 domain. A number of additional proteins have been identified that associate with SLP-76 both constitutively and inducibly following receptor ligation, supporting the notion that SLP-76 functions as an adaptor or scaffold protein. Studies using SLP-76 deficient T cell lines or mice have provided strong evidence that SLP-76 plays a positive role in promoting T cell development and activation as well as mast cell and platelet function [PROW]. | SP Function: involved in t cell antigen receptor mediated signaling. | Gene Ontology:
biological process: biological process: molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003340_01
Name: C-src tyrosine kinase |
Sum Func: | SP Function: specifically phosphorylates a tyrosine on the src kinase. this tyrosine acts as a negative regulatory site. can also act on the lyn and fyn kinases. | Gene Ontology:
molecular function: cellular component: biological process: molecular function: biological process: molecular function: biological process: molecular function: |
BioCarta Pathways:
1: Activation of Csk by cAMP-dependent Protein Kinase Inhibits Signaling through the T Cell Receptor 2: Cell to Cell Adhesion Signaling 3: Integrin Signaling Pathway 4: Activation of Src by Protein-tyrosine phosphatase alpha |
KEGG Pathways:
2: Cell cycle 8: Gap junction 10: Natural killer cell mediated cytotoxicity 11: T cell receptor signaling pathway 12: B cell receptor signaling pathway 13: Fc epsilon RI signaling pathway 14: Leukocyte transendothelial migration 16: Regulation of actin cytoskeleton 18: Adipocytokine signaling pathway 19: Epithelial cell signaling in Helicobacter pylori infection |
| Unique id : H003231_01
Name: Platelet-derived growth factor alpha polypeptide |
Sum Func: The protein encoded by this gene is a member of the platelet-derived growth factor family. The four members of this family are mitogenic factors for cells of mesenchymal origin and are characterized by a motif of eight cysteines. This gene product can exist either as a homodimer or as a heterodimer with the platelet-derived growth factor beta polypeptide, where the dimers are connected by disulfide bonds. Studies using knockout mice have shown cellular defects in oligodendrocytes, alveolar smooth muscle cells, and Leydig cells in the testis; knockout mice die either as embryos or shortly after birth. Two splice variants have been identified for this gene. | SP Function: platelet-derived growth factor is a potent mitogen for cells of mesenchymal origin. binding of this growth factor to its affinity receptor elicits a variety of cellular responses. it is released by platelets upon wounding and plays an important role in stimulating adjacent cells to grow and thereby heal the wound. | Gene Ontology:
biological process: biological process: biological process: cellular component: molecular function: cellular component: molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002038_01
Name: Flavin containing monooxygenase 5 |
Sum Func: Metabolic N-oxidation of the diet-derived amino-trimethylamine (TMA) is mediated by flavin-containing monooxygenase and is subject to an inherited FMO3 polymorphism in man resulting in a small subpopulation with reduced TMA N-oxidation capacity resulting in fish odor syndrome Trimethylaminuria. Three forms of the enzyme, FMO1 found in fetal liver, FMO2 found in adult liver, and FMO3 are encoded by genes clustered in the 1q23-q25 region. Flavin-containing monooxygenases are NADPH-dependent flavoenzymes that catalyzes the oxidation of soft nucleophilic heteroatom centers in drugs, pesticides, and xenobiotics. | SP Function: in contrast with other forms of fmo it does not seem to be a drug-metabolizing enzyme. | Gene Ontology:
molecular function: molecular function: biological process: cellular component: cellular component: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H015306_01
Name: Core promoter element binding protein |
Sum Func: This gene encodes a nuclear protein that has three zinc fingers at the end of its C-terminal domain, a serine/threonine-rich central region, and an acidic domain lying within the N-terminal region. The zinc fingers of this protein are responsible for the specific DNA binding with the guanine-rich core promoter elements. The central region might be involved in activation or posttranslational regulatory pathways, and the acidic N-terminal domain might play an important role in the process of transcriptional activation. It is capable of activating transcription approximately 4-fold either on homologous or heterologous promoters. The DNA binding and transcriptional activity of this protein, in conjunction with its expression pattern, suggests that this protein may participate in the regulation and/or maintenance of the basal expression of pregnancy-specific glycoprotein genes and possibly other TATA box-less genes. Two transcript variants encoding the same protein have been found for this gene. | SP Function: transcriptional activator (by similarity). binds a gc box motif. could play a role in b-cell growth and development. | Gene Ontology:
biological process: molecular function: biological process: molecular function: cellular component: cellular component: biological process: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H000896_01
Name: Stanniocalcin 1 |
Sum Func: | SP Function: stimulates renal phosphate reabsorption, and could therefore prevent hypercalcemia. | Gene Ontology:
biological process: biological process: biological process: cellular component: molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H001508_01
Name: Aldehyde dehydrogenase 4 family, member A1 |
Sum Func: This protein belongs to the aldehyde dehydrogenase family of proteins. This enzyme is a mitochondrial matrix NAD-dependent dehydrogenase which catalyzes the second step of the proline degradation pathway, converting pyrroline-5-carboxylate to glutamate. Deficiency of this enzyme is associated with type II hyperprolinemia, an autosomal recessive disorder characterized by accumulation of delta-1-pyrroline-5-carboxylate (P5C) and proline. Two transcript variants encoding the same protein have been identified for this gene. | SP Function: irreversible conversion of delta-1-pyrroline-5- carboxylate (p5c), derived either from proline or ornithine, to glutamate. this is a necessary step in the pathway interconnecting the urea and tricarboxylic acid cycles. the preferred substrate is glutamic gamma-semialdehyde, other substrates include succinic, glutaric and adipic semialdehydes. | Gene Ontology:
molecular function: molecular function: molecular function: molecular function: biological process: cellular component: cellular component: molecular function: biological process: biological process: |
BioCarta Pathways:
1: Catabolic Pathways for Arginine , Histidine, Glutamate, Glutamine, and Proline |
KEGG Pathways: |
| Unique id : H002243_01
Name: Ras homolog gene family, member E |
Sum Func: Members of the Rho family of Ras-related GTPases, such as ARHE, regulate the organization of the actin cytoskeleton in response to extracellular growth factors. Like Ras (MIM 190020), Rho family members appear to cycle between an inactive GDP-bound form and an active GTP-bound form. Three major regulators of Rho activity have been identified: RhoGDIs, which interact with the GDP-bound Rho proteins to keep them in a resting complex (see MIM 601925); GEFs, which promote GDP/GTP exchange leading to activation of Rho proteins (see MIM 601855); and GAPs, which stimulate GTP hydrolysis and return the activated Rho protein to its inactive form (see MIM 602680) (Nobes et al., 1998 [PubMed 9531558]).[supplied by OMIM] | SP Function: | Gene Ontology:
molecular function: cellular component: biological process: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003570_01
Name: Annexin A3 |
Sum Func: This gene encodes a member of the annexin family. Members of this calcium-dependent phospholipid-binding protein family play a role in the regulation of cellular growth and in signal transduction pathways. This protein functions in the inhibition of phopholipase A2 and cleavage of inositol 1,2-cyclic phosphate to form inositol 1-phosphate. This protein may also play a role in anti-coagulation. | SP Function: inhibitor of phospholipase a2, also possesses anti- coagulant properties. also cleaves the cyclic bond of inositol 1,2-cyclic phosphate to form inositol 1-phosphate. | Gene Ontology:
molecular function: molecular function: cellular component: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002515_01
Name: Clusterin (complement lysis inhibitor, SP-40,40, sulfated glycoprotein 2, testosterone-repressed prostate message 2, apolipoprotein J) |
Sum Func: | SP Function: not yet clear. it is known to be expressed in a variety of tissues and it seems to be able to bind to cells, membranes and hydrophobic proteins. it has been associated with programmed cell death (apoptosis). | Gene Ontology:
biological process: biological process: biological process: cellular component: biological process: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H001717_01
Name: RAP1, GTPase activating protein 1 |
Sum Func: | SP Function: gtpase activator for the nuclear ras-related regulatory protein rap-1a (krev-1), converting it to the putatively inactive gdp-bound state. | Gene Ontology:
molecular function: molecular function: cellular component: biological process: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H015322_01
Name: CD24 antigen (small cell lung carcinoma cluster 4 antigen) |
Sum Func: | SP Function: modulates b-cell activation responses. signaling could be triggered by the binding of a lectin-like ligand to the cd24 carbohydrates, and transduced by the release of second messengers derived from the gpi-anchor. promotes ag-dependent proliferation of b-cells, and prevents their terminal differentiation into antibody-forming cells. | Gene Ontology:
biological process: cellular component: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H007609_01
Name: Protein phosphatase 1, regulatory (inhibitor) subunit 3C |
Sum Func: Protein phosphatase-1 (PP1; see MIM 176875) participates in the regulation of a wide variety of cellular functions by reversible protein phosphorylation. The ability of PP1 to regulate diverse functions resides in its capacity to interact with a variety of regulatory subunits that may target PP1 to specific subcellular locations, modulate its substrate specificity, and allow its activity to be responsive to extracellular signals. Several targeting subunits of PP1 have been identified, including PPP1R5, the glycogen-binding subunits PPP1R3 (MIM 600917) and PPP1R4, and the nuclear inhibitor of PP1 (PPP1R8; MIM 602636).[supplied by OMIM] | SP Function: | Gene Ontology:
molecular function: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H015668_01
Name: Parvalbumin |
Sum Func: The protein encoded by this gene is a high affinity calcium ion-binding protein that is structurally and functionally similar to calmodulin and troponin C. The encoded protein is thought to be involved in muscle relaxation. | SP Function: in muscle, the calcium-binding protein parvalbumin is thought to be involved in muscle relaxation. | Gene Ontology:
molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H009511_01
Name: Melanoma associated gene |
Sum Func: | SP Function: | Gene Ontology:
cellular component: biological process: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H008648_01
Name: Selenium binding protein 1 |
Sum Func: This gene product belongs to the selenium-binding protein family. Selenium is an essential nutrient that exhibits potent anticarcinogenic properties, and deficiency of selenium may cause certain neurologic diseases. It has been proposed that the effects of selenium in preventing cancer and neurologic diseases may be mediated by selenium-binding proteins. The exact function of this gene is not known. | SP Function: not known; bind selenium. | Gene Ontology:
molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H001905_01
Name: Lipopolysaccharide-induced TNF factor |
Sum Func: | SP Function: plays an important role in the regulation of tumor necrosis factor alpha (tnf-alpha) gene transcription. | Gene Ontology:
molecular function: cellular component: biological process: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003391_01
Name: Laminin, beta 1 |
Sum Func: Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins are composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively) and they form a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. Several isoforms of each chain have been described. Different alpha, beta and gamma chain isomers combine to give rise to different heterotrimeric laminin isoforms which are designated by Arabic numerals in the order of their discovery, i.e. alpha1beta1gamma1 heterotrimer is laminin 1. The biological functions of the different chains and trimer molecules are largely unknown, but some of the chains have been shown to differ with respect to their tissue distribution, presumably reflecting diverse functions in vivo. This gene encodes the beta chain isoform laminin, beta 1. The beta 1 chain has 7 structurally distinct domains which it shares with other beta chain isomers. The C-terminal helical region containing domains I and II are separated by domain alpha, domains III and V contain several EGF-like repeats, and domains IV and VI have a globular conformation. Laminin, beta 1 is expressed in most tissues that produce basement membranes, and is one of the 3 chains constituting laminin 1, the first laminin isolated from Engelbreth-Holm-Swarm (EHS) tumor. A sequence in the beta 1 chain that is involved in cell attachment, chemotaxis, and binding to the laminin receptor was identified and shown to have the capacity to inhibit metastasis. | SP Function: binding to cells via a high affinity receptor, laminin is thought to mediate the attachment, migration and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components. | Gene Ontology:
cellular component: biological process: molecular function: molecular function: |
BioCarta Pathways:
1: Prion Pathway |
KEGG Pathways: |
| Unique id : H000262_01
Name: Aryl-hydrocarbon receptor nuclear translocator 2 |
Sum Func: The aryl hydrocarbon receptor nuclear translocator (ARNT; MIM 126110) is a member of a novel transcription factor family consisting of a conserved basic helix-loop-helix (bHLH) structural motif contiguous with a PAS domain. Members of this family include PER (see MIM 602260), the aryl hydrocarbon receptor (AHR; MIM 600253), SIM1 (MIM 603128), and HIF1A (MIM 603348).[supplied by OMIM] | SP Function: | Gene Ontology:
molecular function: molecular function: biological process: biological process: biological process: cellular component: biological process: molecular function: molecular function: molecular function: biological process: biological process: biological process: biological process: molecular function: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H007445_01
Name: Myosin IB |
Sum Func: | SP Function: motor protein that may participate in process critical to neuronal development and function such as cell migration, neurite outgrowth and vesicular transport (by similarity). | Gene Ontology:
molecular function: molecular function: molecular function: molecular function: cellular component: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H000651_01
Name: MAX dimerization protein 4 |
Sum Func: This gene is a member of the MAD gene family . The MAD genes encode basic helix-loop-helix-leucine zipper proteins that heterodimerize with MAX protein, forming a transcriptional repression complex. The MAD proteins compete for MAX binding with MYC, which heterodimerizes with MAX forming a transcriptional activation complex. Studies in rodents suggest that the MAD genes are tumor suppressors and contribute to the regulation of cell growth in differentiating tissues. | SP Function: transcriptional repressor. binds with max to form a sequence-specific dna-binding protein complex which recognizes the core sequence cac[ga]tg. antagonizes myc transcriptional activity by competing for max (by similarity). | Gene Ontology:
molecular function: biological process: biological process: biological process: cellular component: molecular function: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H000502_01
Name: Phosphoribosyl pyrophosphate synthetase 1 |
Sum Func: | SP Function: | Gene Ontology:
molecular function: biological process: biological process: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H008715_01
Name: ATP-binding cassette, sub-family G (WHITE), member 1 |
Sum Func: The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the White subfamily. It is involved in macrophage cholesterol and phospholipids transport, and may regulate cellular lipid homeostasis in other cell types. Several alternative splice variants have been identified. | SP Function: transporter involved in macrophage lipid homeostasis. is an active component of the macrophage lipid export complex. could also be involved in intracellular lipid transport processes. the role in cellular lipid homeostasis may not be limited to macrophages. | Gene Ontology:
molecular function: molecular function: molecular function: molecular function: molecular function: cellular component: biological process: cellular component: molecular function: molecular function: molecular function: biological process: |
BioCarta Pathways:
1: Nuclear Receptors in Lipid Metabolism and Toxicity |
KEGG Pathways: |
| Unique id : H003763_01
Name: Folate hydrolase (prostate-specific membrane antigen) 1 |
Sum Func: | SP Function: also exhibits a dipeptidyl-peptidase iv type activity. in vitro, cleaves gly-pro-amc. | Gene Ontology:
molecular function: molecular function: cellular component: cellular component: molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H013236_01
Name: Monocyte to macrophage differentiation-associated |
Sum Func: This protein is expressed by in vitro differentiated macrophages but not freshly isolated monocytes. Although sequence analysis identifies seven potential transmembrane domains, this protein has little homology to G-protein receptors and it has not been positively identified as a receptor. A suggested alternative function is that of an ion channel protein in maturing macrophages. | SP Function: | Gene Ontology:
biological process: cellular component: cellular component: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003935_01
Name: KIAA0922 protein |
Sum Func: | SP Function: | Gene Ontology: | BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003371_01
Name: Erythropoietin receptor |
Sum Func: The erythropoietin receptor is a member of the cytokine receptor family. Upon erythropoietin binding, the erythropoietin receptor activates Jak2 tyrosine kinase which activates different intracellular pathways including: Ras/MAP kinase, phosphatidylinositol 3-kinase and STAT transcription factors. The stimulated erythropoietin receptor appears to have a role in erythroid cell survival. Defects in the erythropoietin receptor may produce erythroleukemia and familial erythrocytosis. | SP Function: isoform epor-t, missing the cytoplasmic tail, acts as a dominant-negative receptor of epor-mediated signaling. | Gene Ontology:
molecular function: molecular function: cellular component: biological process: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H005832_01
Name: Kynureninase (L-kynurenine hydrolase) |
Sum Func: Kynureninase is a pyridoxal-5′-phosphate (pyridoxal-P) dependent enzyme that catalyses the cleavage of L-kynurenine and L-3-hydroxykynurenine into anthranilic and 3-hydroxyanthranilic acids, respectively. Kynureninase is involved in the biosynthesis of NAD cofactors from tryptophan through the kynurenine pathway. | SP Function: catalyzes the cleavage of l-kynurenine (l-kyn) and l-3- hydroxykynurenine (l-3ohkyn) into anthranilic (aa) and 3- hydroxyanthranilic acids (3-ohaa), respectively. has a preference for the l-3-hydroxy form. also has cysteine-conjugate-beta-lyase activity (by similarity). | Gene Ontology:
molecular function: molecular function: biological process: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H011966_01
Name: Syntaxin binding protein 1 |
Sum Func: | SP Function: | Gene Ontology: | BioCarta Pathways: | KEGG Pathways: |
| Unique id : H004814_01
Name: N-myc downstream regulated gene 1 |
Sum Func: This gene is a member of the N-myc downregulated gene family which belongs to the alpha/beta hydrolase superfamily. The protein encoded by this gene is a cytoplasmic protein involved in stress responses, hormone responses, cell growth, and differentiation. Mutation in this gene has been reported to be causative for hereditary motor and sensory neuropathy-Lom. | SP Function: may have a growth inhibitory role. | Gene Ontology:
molecular function: biological process: cellular component: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003024_01
Name: Cathepsin H |
Sum Func: The protein encoded by this gene is a lysosomal cysteine proteinase important in the overall degradation of lysosomal proteins. It is composed of a dimer of disulfide-linked heavy and light chains, both produced from a single protein precursor. The encoded protein, which belongs to the peptidase C1 protein family, can act both as an aminopeptidase and as an endopeptidase. Increased expression of this gene has been correlated with malignant progression of prostate tumors. Two transcript variants encoding different isoforms have been found for this gene. | SP Function: important for the overall degradation of proteins in lysosomes. | Gene Ontology:
molecular function: molecular function: molecular function: cellular component: biological process: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H001606_01
Name: Drebrin 1 |
Sum Func: The protein encoded by this gene is a cytoplasmic actin-binding protein thought to play a role in the process of neuronal growth. It is a member of the drebrin family of proteins that are developmentally regulated in the brain. A decrease in the amount of this protein in the brain has been implicated as a possible contributing factor in the pathogenesis of memory disturbance in Alzheimer’s disease. At least two alternative splice variants encoding different protein isoforms have been described for this gene. | SP Function: drebrins might play some role in cell migration, extension of neuronal processes and plasticity of dendrites, respectively. binds f-actin. | Gene Ontology:
molecular function: molecular function: cellular component: biological process: cellular component: cellular component: cellular component: cellular component: biological process: molecular function: biological process: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H013890_01
Name: Slit homolog 2 (Drosophila) |
Sum Func: | SP Function: | Gene Ontology:
molecular function: biological process: biological process: cellular component: biological process: biological process: biological process: biological process: biological process: biological process: biological process: biological process: biological process: molecular function: molecular function: molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H000900_01
Name: Matrilin 2 |
Sum Func: This gene encodes a member of von Willebrand factor A domain containing protein family. This family of proteins are thought to be involved in the formation of filamentous networks in the extracellular matrices of various tissues. This protein contains five von Willebrand factor A domains. The specific function of this gene has not yet been determined. Two alternatively spliced variants have been described. | SP Function: involved in matrix assembly (by similarity). | Gene Ontology:
biological process: molecular function: cellular component: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003155_01
Name: CD24 antigen (small cell lung carcinoma cluster 4 antigen |