Annotations – Page Two
| Gene Info | Sum Func | Function | Gene Ontology | Biocarta Pathways | Kegg Pathways |
|---|---|---|---|---|---|
| Unique id : H003497_01
Name: V-akt murine thymoma viral oncogene homolog 2 |
Sum Func: AKT2 is a putative oncogene encoding a protein belonging to a subfamily of serine/threonine kinases containing SH2-like (Src homology 2-like) domains. Furthermore, AKT2 was shown to be amplified and overexpressed in 2 of 8 ovarian carcinoma cell lines and 2 of 15 primary ovarian tumors. Overexpression of AKT2 contributes to the malignant phenotype of a subset of human ductal pancreatic cancers. AKT2 is a general protein kinase capable of phosphorylating several known proteins. | SP Function: general protein kinase capable of phosphorylating several known proteins. | Gene Ontology:
molecular function: biological process: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002236_01
Name: Mitogen-activated protein kinase kinase kinase kinase 1 |
Sum Func: | SP Function: may play a role in the response to environmental stress. appears to act upstream of the jun n-terminal pathway. may play a role in hematopoietic lineage decisions and growth regulation. | Gene Ontology:
molecular function: biological process: biological process: biological process: molecular function: biological process: biological process: molecular function: molecular function: |
BioCarta Pathways:
1: MAP Kinase Signaling Pathway 2: Signaling of Hepatocyte Growth Factor Receptor |
KEGG Pathways: |
| Unique id : H003232_01
Name: Mitogen-activated protein kinase kinase kinase 14 |
Sum Func: This gene encodes mitogen-activated protein kinase kinase kinase 14, which is a serine/threonine protein-kinase. This kinase binds to TRAF2 and stimulates NF-kappaB activity. It shares sequence similarity with several other MAPKK kinases. It participates in an NF-kappaB-inducing signaling cascade common to receptors of the tumor-necrosis/nerve-growth factor (TNF/NGF) family and to the interleukin-1 type-I receptor. | SP Function: lymphotoxin beta-activated kinase which seems to be exclusively involved in the activation of nf-kappa-b and its transcriptional activity. induces the processing of nf-kappa-b 2/p100. could act in a receptor-selective manner (by similarity). | Gene Ontology:
molecular function: biological process: molecular function: molecular function: |
BioCarta Pathways:
1: HIV-I Nef: negative effector of Fas and TNF 2: CD40L Signaling Pathway 3: Induction of apoptosis through DR3 and DR4/5 Death Receptors 4: Signal transduction through IL1R 5: Keratinocyte Differentiation 6: MAP Kinase Signaling Pathway 7: NF-kB Signaling Pathway 8: NFkB activation by Nontypeable Hemophilus influenzae 9: Double Stranded RNA Induced Gene Expression 10: TNF/Stress Related Signaling 11: TACI and BCMA stimulation of B cell immune responses. 12: TNFR2 Signaling Pathway 13: Toll-Like Receptor 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 : H002763_01
Name: Mitogen-activated protein kinase kinase kinase 8 |
Sum Func: This gene was identified by its oncogenic transforming activity in cells. The encoded protein is a member of the serine/threonine protein kinase family. This kinase can activate both the MAP kinase and JNK kinase pathways. This kinase was shown to activate IkappaB kinases, and thus induce the nuclear production of NF-kappaB. This kinase was also found to promote the production of TNF-alpha and IL-2 during T lymphocyte activation. Studies of a similar gene in rat suggested the direct involvement of this kinase in the proteolysis of NF-kappaB1,p105 (NFKB1). This gene may also utilize a downstream in-frame translation start codon, and thus produce an isoform containing a shorter N-terminus. The shorter isoform has been shown to display weaker transforming activity. | SP Function: able to activate nf-kappa-b 1 by stimulating proteasome- mediated proteolysis of nf-kappa-b 1/p105. plays a role in the cell cycle. the longer form of cot has some transforming activity, although it is much weaker than the activated cot oncoprotein. | Gene Ontology:
molecular function: biological process: cellular component: biological process: 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 : H002320_01
Name: Ribosomal protein S6 kinase, 70kDa, polypeptide 2 |
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 the S6 ribosomal protein and eucaryotic translation initiation factor 4B (eIF4B). Phosphorylation of S6 leads to an increase in protein synthesis and cell proliferation. Alternate transcriptional splice variants encoding different isoforms have been found for this gene, but only two of them have been characterized to date. | SP Function: | Gene Ontology:
molecular function: biological process: biological process: molecular function: biological process: biological process: molecular function: |
BioCarta Pathways:
1: 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 : H004176_01
Name: Mitogen-activated protein kinase kinase kinase 11 |
Sum Func: The protein encoded by this gene is a member of the serine/threonine kinase family. This kinase contains a SH3 domain and a leucine zipper-basic motif. This kinase preferentially activates MAPK8/JNK kinase, and functions as a positive regulator of JNK signaling pathway. This kinase can directly phosphorylate, and activates IkappaB kinase alpha and beta, and is found to be involved in the transcription activity of NF-kappaB mediated by Rho family GTPases and CDC42. | SP Function: | Gene Ontology:
molecular function: biological process: biological process: 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 : H000612_01
Name: Ribosomal protein S6 kinase, 90kDa, polypeptide 3 |
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 various substrates, including members of the mitogen-activated kinase (MAPK) signaling pathway. The activity of this protein has been implicated in controlling cell growth and differentiation. Mutations in this gene have been associated with Coffin-Lowry syndrome (CLS). | 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: biological process: molecular function: biological process: biological process: molecular function: |
BioCarta Pathways:
1: Signaling Pathway from G-Protein Families 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 : H003259_01
Name: Sp1 transcription factor |
Sum Func: | SP Function: binds to gc box promoters elements and selectively activates mrna synthesis from genes that contain functional recognition sites. can interact with g/c-rich motifs from serotonin receptor promoter. | Gene Ontology:
molecular function: molecular function: cellular component: biological process: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H000521_01
Name: Ribosomal protein S6 kinase, 90kDa, polypeptide 2 |
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 various substrates, including members of the mitogen-activated kinase (MAPK) signaling 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: cellular component: biological process: biological process: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002588_01
Name: Mitogen-activated protein kinase 7 |
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 specifically activated by mitogen-activated protein kinase kinase 5 (MAP2K5/MEK5). It is involved in the downstream signaling processes of various receptor molecules including receptor type kinases, and G protein-coupled receptors. In response to extracellular signals, this kinase translocates to cell nucleus, where it regulates gene expression by phosphorylating, and activating different transcription factors. Four alternatively spliced transcript variants of this gene encoding two distinct isoforms have been reported. | SP Function: mek5 and erk5 interact specifically with one another and not with mek1/erk1 or mek2/erk2 pathways. | Gene Ontology:
molecular function: molecular function: molecular function: biological process: biological process: molecular function: molecular function: biological process: molecular function: |
BioCarta Pathways:
1: Role of Erk5 in Neuronal Survival 2: Control of skeletal myogenesis by HDAC & calcium/calmodulin-dependent kinase (CaMK) 3: MAP Kinase 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 : H009683_01
Name: Mitogen-activated protein kinase kinase kinase kinase 4 |
Sum Func: The protein encoded by this gene is a member of the serine/threonine protein kinase family. This kinase has been shown to specifically activate MAPK8/JNK. The activation of MAPK8 by this kinase is found to be inhibited by the dominant-negative mutants of MAP3K7/TAK1, MAP2K4/MKK4, and MAP2K7/MKK7, which suggests that this kinase may function through the MAP3K7-MAP2K4-MAP2K7 kinase cascade, and mediate the TNF-alpha signaling pathway. Alternatively spliced transcript variants encoding different isoforms have been identified. | SP Function: serine/threonine kinase that may play a role in the response to environmental stress and cytokines such as tnf-alpha. appears to act upstream of the jun n-terminal pathway. | Gene Ontology:
molecular function: cellular component: biological process: biological process: molecular function: biological process: molecular function: molecular function: |
BioCarta Pathways:
1: MAP Kinase Signaling Pathway |
KEGG Pathways: |
| Unique id : H002660_01
Name: TNFRSF1A-associated via death domain |
Sum Func: The protein encoded by this gene is a death domain containing adaptor molecule that interacts with TNFRSF1A/TNFR1 and mediates programmed cell death signaling and NF-kappaB activation. This protein binds adaptor protein TRAF2, reduces the recruitment of inhibitor-of-apoptosis proteins (IAPs) by TRAF2, and thus suppresses TRAF2 mediated apoptosis. This protein can also interact with receptor TNFRSF6/FAS and adaptor protein FADD/MORT1, and is involved in the Fas-induced cell death pathway. Two alternatively spliced transcript variants encoding distinct isoforms have been reported. | SP Function: adapter molecule for tnfrsf1a/tnfr1 that specifically associates with the cytoplasmic domain of activated tnfrsf1a/tnfr1 mediating its interaction with fadd. overexpression of tradd leads to two major tnf-induced responses, apoptosis and activation of nf-kappa-b. | Gene Ontology:
biological process: biological process: biological process: molecular function: molecular function: biological process: biological process: |
BioCarta Pathways:
1: HIV-I Nef: negative effector of Fas and TNF 2: Acetylation and Deacetylation of RelA in The Nucleus 3: Ceramide Signaling Pathway 4: Induction of apoptosis through DR3 and DR4/5 Death Receptors 5: MAP Kinase Signaling Pathway 6: NF-kB Signaling Pathway 7: p38 MAPK Signaling Pathway 8: SODD/TNFR1 Signaling Pathway 9: TNF/Stress Related Signaling 10: TNFR1 Signaling Pathway |
KEGG Pathways: |
| Unique id : H002559_01
Name: Mitogen-activated protein kinase kinase kinase 12 |
Sum Func: The protein encoded by this gene is a member of serine/threonine protein kinase family. This kinase contains a leucine-zipper domain, and is predominately expressed in neuronal cells. The phosphorylation state of this kinase in synaptic terminals was shown to be regulated by membrane depolarization via calcineurin. This kinase forms heterodimers with leucine zipper containing transcription factors, such as cAMP responsive element binding protein (CREB) and MYC, and thus may play a regulatory role in PKA or retinoic acid induced neuronal differentiation. | SP Function: may be an activator of the jnk/sapk pathway. phosphorylates beta-casein, histone 1 and myelin basic protein in vitro. | Gene Ontology:
molecular function: biological process: cellular component: molecular function: cellular component: biological process: molecular function: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H000203_01
Name: MAX protein |
Sum Func: The protein encoded by this gene is a member of the basic helix-loop-helix leucine zipper (bHLHZ) family of transcription factors. It is able to form homodimers and heterodimers with other family members, which include Mad, Mxi1 and Myc. Myc is an oncoprotein implicated in cell proliferation, differentiation and apoptosis. The homodimers and heterodimers compete for a common DNA target site (the E box) and rearrangement among these dimer forms provides a complex system of transcriptional regulation. Multiple alternatively spliced transcript variants have been described for this gene but the full length nature for some of them is unknown. | SP Function: | Gene Ontology:
molecular function: cellular component: biological process: |
BioCarta Pathways:
1: MAP Kinase Signaling Pathway 2: p38 MAPK Signaling Pathway 3: Overview of telomerase protein component gene hTert Transcriptional Regulation |
KEGG Pathways: |
| Unique id : H001369_01
Name: Ribosomal protein S6 kinase, 90kDa, polypeptide 4 |
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 various substrates, including CREB1 and c-fos. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. | SP Function: | Gene Ontology:
molecular function: molecular function: molecular function: cellular component: cellular component: biological process: biological process: biological process: molecular function: biological process: molecular function: molecular function: |
BioCarta Pathways:
1: 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 : H010968_01
Name: Mitogen-activated protein kinase kinase kinase 6 |
Sum Func: This gene encodes a member of the serine/threonine protein kinase family. The encoded kinase was identified by its interaction with MAP3K5/ASK, a protein kinase and an activator of c-Jun kinase (MAPK7/JNK) and MAPK14/p38 kinase. This kinase was found to weakly activate MAPK7, but not MAPK1/ERK or MAPK14. An alternatively spliced transcript variant has been found for this gene, but its biological validity has not been determined. | SP Function: component of a protein kinase signal transduction cascade. activates the jnk, but not erk or p38 kinase pathways. | Gene Ontology: | 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 : H002757_01
Name: Mitogen-activated protein kinase 6 |
Sum Func: The protein encoded by this gene is a member of the Ser/Thr protein kinase family, and is most closely related to mitogen-activated protein kinases (MAP kinases). MAP kinases also known as extracellular signal-regulated kinases (ERKs), are activated through protein phosphorylation cascades and act as integration points for multiple biochemical signals. This kinase is localized in the nucleus, and has been reported to be activated in fibroblasts upon treatment with serum or phorbol esters. | SP Function: phosphorylates microtubule-associated protein-2 (map2). may promote entry in the cell cycle (by similarity). | Gene Ontology:
molecular function: molecular function: biological process: biological process: molecular function: biological process: molecular function: |
BioCarta Pathways:
1: MAP Kinase 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 : H002136_01
Name: Mitogen-activated protein kinase kinase kinase kinase 2 |
Sum Func: The protein encoded by this gene is a member of the serine/threonine protein kinase family. Although this kinase is found in many tissues, its expression in lymphoid follicles is restricted to the cells of germinal center, where it may participate in B-cell differentiation. This kinase can be activated by TNF-alpha, and has been shown to specifically activate MAP kinases. This kinase is also found to interact with TNF receptor-associated factor 2 (TRAF2), which is involved in the activation of MAP3K1/MEKK1. | SP Function: enhances map3k1 oligomerization, which may relieve amino-terminal mediated map3k1 autoinhibition and lead to activation following autophosphorylation. may play a role in the regulation of vesicle targeting or fusion. | Gene Ontology:
molecular function: cellular component: biological process: biological process: biological process: biological process: molecular function: biological process: molecular function: cellular component: molecular function: biological process: |
BioCarta Pathways:
1: Role of MAL in Rho-Mediated Activation of SRF 2: MAP Kinase Signaling Pathway 3: TNF/Stress Related Signaling |
KEGG Pathways: |
| Unique id : H002580_01
Name: Mitogen-activated protein kinase-activated protein kinase 3 |
Sum Func: This gene encodes a member of the Ser/Thr protein kinase family. This kinase functions as a mitogen-activated protein kinase (MAP kinase)- activated protein kinase. MAP kinases are also known as extracellular signal-regulated kinases (ERKs), act as an integration point for multiple biochemical signals. This kinase was shown to be activated by growth inducers and stress stimulation of cells. In vitro studies demonstrated that ERK, p38 MAP kinase and Jun N-terminal kinase were all able to phosphorylate and activate this kinase, which suggested the role of this kinase as an integrative element of signaling in both mitogen and stress responses. This kinase was reported to interact with, phosphorylate and repress the activity of E47, which is a basic helix-loop-helix transcription factor known to be involved in the regulation of tissue-specific gene expression and cell differentiation. | SP Function: | Gene Ontology:
molecular function: molecular function: cellular component: biological process: molecular function: biological process: biological process: molecular function: |
BioCarta Pathways:
1: Stress Induction of HSP Regulation 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 : H001376_01
Name: Conserved helix-loop-helix ubiquitous kinase |
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, MIM 164008, 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 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: phosphorylates inhibitors of nf-kappa-b thus leading to the dissociation of the inhibitor/nf-kappa-b complex and ultimately the degradation of the inhibitor. also phosphorylates ncoa3. | Gene Ontology:
molecular function: biological process: molecular function: 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: CD40L Signaling Pathway 7: Induction of apoptosis through DR3 and DR4/5 Death Receptors 8: Signal transduction through IL1R 9: Keratinocyte Differentiation 10: MAP Kinase Signaling Pathway 11: NF-kB Signaling Pathway 12: NFkB activation by Nontypeable Hemophilus influenzae 13: Ras Signaling Pathway 14: Double Stranded RNA Induced Gene Expression 15: TNF/Stress Related Signaling 16: TACI and BCMA stimulation of B cell immune responses. 17: TNFR2 Signaling Pathway 18: Toll-Like Receptor Pathway 19: Neuropeptides VIP and PACAP inhibit the apoptosis of activated T cells |
KEGG Pathways:
2: Apoptosis 3: Toll-like receptor signaling pathway 4: T cell receptor signaling pathway 5: B cell receptor signaling pathway 7: Adipocytokine signaling pathway 9: Epithelial cell signaling in Helicobacter pylori infection |
| Unique id : H003860_01
Name: Mitogen-activated protein kinase kinase kinase kinase 5 |
Sum Func: This gene encodes a member of the serine/threonine protein kinase family, that is highly similar to yeast SPS1/STE20 kinase. Yeast SPS1/STE20 functions near the beginning of the MAP kinase signal cascades that is essential for yeast pheromone response. This kinase was shown to activate Jun kinase in mammalian cells, which suggested a role in stress response. Two alternatively spliced transcript variants encoding the same protein have been described for this gene. | SP Function: | Gene Ontology:
molecular function: biological process: cellular component: biological process: biological process: molecular function: biological process: molecular function: molecular function: |
BioCarta Pathways:
1: The 4-1BB-dependent immune response 2: MAP Kinase Signaling Pathway |
KEGG Pathways: |
| Unique id : H003773_01
Name: Mitogen-activated protein kinase 4 |
Sum Func: Mitogen-activated protein kinase 4 is a member of the mitogen-activated protein kinase family. Tyrosine kinase growth factor receptors activate mitogen-activated protein kinases which then translocate into the nucleus where it phosphorylates nuclear targets. | SP Function: phosphorylates microtubule-associated protein-2 (map2). may promote entry in the cell cycle. | Gene Ontology:
molecular function: molecular function: biological process: biological process: molecular function: molecular function: |
BioCarta Pathways:
1: MAP Kinase 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 : H002963_01
Name: V-rel reticuloendotheliosis viral oncogene homolog A, nuclear factor of kappa light polypeptide gene enhancer in B-cells 3, p65 (avian) |
Sum Func: NFKB1 (MIM 164011) or NFKB2 (MIM 164012) is bound to REL (MIM 164910), RELA, or RELB (MIM 604758) to form the NFKB complex. The p50 (NFKB1)/p65 (RELA) heterodimer is the most abundant form of NFKB. The NFKB complex is inhibited by I-kappa-B proteins (NFKBIA, MIM 164008 or NFKBIB, MIM 604495), which inactivate NFKB 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 NFKB 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: p65 is a subunit of the nuclear factor kappa-b, a second messenger, which activates the transcription of a number of genes in multiple tissues. the inhibitory effect of i-kappa-b upon nf- kappa-b in the cytoplasm is exerted primarily through the interaction with p65. p65 shows a weak dna-binding site which could contribute directly to dna binding in the nf-kappa-b complex. | Gene Ontology:
biological process: cellular component: cellular component: biological process: molecular function: biological process: biological process: molecular function: molecular function: molecular function: cellular component: biological process: |
BioCarta Pathways:
1: Acetylation and Deacetylation of RelA in The Nucleus 2: Influence of Ras and Rho proteins on G1 to S Transition 3: Erythropoietin mediated neuroprotection through NF-kB 4: NF-kB Signaling Pathway 5: NFkB activation by Nontypeable Hemophilus influenzae 6: Mechanism of Gene Regulation by Peroxisome Proliferators via PPARa(alpha) |
KEGG Pathways: |
| Unique id : H014820_01
Name: Mitogen-activated protein kinase 9 |
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 targets specific transcription factors, and thus mediates immediate-early gene expression in response to various cell stimuli. It is most closely related to MAPK8, both of which are involved in UV radiation induced apoptosis, thought to be related to the cytochrome c mediated cell death pathway. This gene and MAPK8 are also known as c-Jun N-terminal kinases. This kinase blocks the ubiquitination of tumor suppressor p53, and thus it increases the stability of p53 in nonstressed cells. Studies of this gene’s mouse counterpart suggest a key role in T-cell differentiation. | SP Function: jnk2 isoforms display different binding patterns: alpha- 1 and alpha-2 preferentially bind to c-jun, whereas beta-1 and beta-2 bind to atf2. however, there is no correlation between binding and phosphorylation, which is achieved at about the same efficiency by all isoforms. junb is not a substrate for jnk2 alpha-2, and jund binds only weakly to it. | Gene Ontology:
molecular function: biological process: molecular function: molecular function: biological process: molecular function: molecular function: biological process: molecular function: |
BioCarta Pathways:
1: MAP Kinase 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 : H002486_01
Name: Glucokinase (hexokinase 4, maturity onset diabetes of the young 2) |
Sum Func: Hexokinases phosphorylate glucose to produce glucose-6-phosphate, thus committing glucose to the glycolytic pathway. Alternative splicing of this gene results in three tissue-specific forms of glucokinase, one found in pancreatic islet beta cells and two found in liver. The protein localizes to the outer membrane of mitochondria. In contrast to other forms of hexokinase, this enzyme is not inhibited by its product glucose-6-phosphate but remains active while glucose is abundant. Mutations in this gene have been associated with non-insulin dependent diabetes mellitus (NIDDM), also called maturity onset diabetes of the young, type 2 (MODY2); mutations have also been associated with persistent hyperinsulinemic hypoglycemia of infancy (PHHI). | SP Function: catalyzes the initial step in utilization of glucose by the beta-cell and liver at physiological glucose concentration. glucokinase has a high km for glucose, and so it is effective only when glucose is abundant. the role of gck is to provide g6p for the synthesis of glycogen. pancreatic glucokinase plays an important role in modulating insulin secretion. hepatic glucokinase helps to facilitate the uptake and conversion of glucose by acting as an insulin-sensitive determinant of hepatic glucose usage. | Gene Ontology:
molecular function: molecular function: biological process: molecular function: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways:
1: Glycolysis / Gluconeogenesis |
| Unique id : H004823_01
Name: Aldolase C, fructose-bisphosphate |
Sum Func: | SP Function: | Gene Ontology:
biological process: molecular function: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways:
1: Glycolysis / Gluconeogenesis |
| Unique id : H003374_01
Name: Aldolase A, fructose-bisphosphate UniGene: Hs.513490 |
Sum Func: This gene product, Aldolase A (fructose-bisphosphate aldolase) is a glycolytic enzyme that catalyzes the reversible conversion of fructose-1,6-bisphosphate to glyceraldehyde 3-phosphate and dihydroxyacetone phosphate. Three aldolase isozymes (A, B, and C), encoded by three different genes, are differentially expressed during development. Aldolase A is found in the developing embryo and is produced in even greater amounts in adult muscle. Aldolase A expression is repressed in adult liver, kidney and intestine and similar to aldolase C levels in brain and other nervous tissue. Aldolase A deficiency has been associated with myopathy and hemolytic anemia. Alternative splicing of this gene results in multiple transcript variants which encode the same protein. | SP Function: | Gene Ontology:
biological process: molecular function: biological process: molecular function: biological process: |
BioCarta Pathways:
1: Downregulated of MTA-3 in ER-negative Breast Tumors |
KEGG Pathways:
1: Glycolysis / Gluconeogenesis |
| Unique id : H001878_01
Name: Enolase 1, (alpha) |
Sum Func: This gene encodes one of three enolase isoenzymes found in mammals; it encodes alpha-enolase, a homodimeric soluble enzyme, and also encodes a shorter monomeric structural lens protein, tau-crystallin. The two proteins are made from the same message. The full length protein, the isoenzyme, is found in the cytoplasm. The shorter protein is produced from an alternative translation start, is localized to the nucleus, and has been found to bind to an element in the c-myc promoter. A pseudogene has been identified that is located on the other arm of the same chromosome. | SP Function: | Gene Ontology:
biological process: molecular function: molecular function: biological process: biological process: cellular component: molecular function: molecular function: cellular component: molecular function: molecular function: molecular function: molecular function: |
BioCarta Pathways:
1: Glycolysis Pathway |
KEGG Pathways: |
| Unique id : H007138_01
Name: Phosphoglycerate kinase 1 |
Sum Func: | SP Function: in addition to its role as a glycolytic enzyme, it seems that pgk-1 acts as a polymerase alpha cofactor protein (primer recognition protein). | Gene Ontology:
biological process: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H001387_01
Name: Phosphofructokinase, platelet |
Sum Func: | SP Function: | Gene Ontology:
molecular function: cellular component: molecular function: cellular component: biological process: molecular function: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways:
1: Glycolysis / Gluconeogenesis |
| Unique id : H001572_01
Name: Aldehyde dehydrogenase 3 family, member B2 |
Sum Func: The aldehyde dehydrogenases are a family of isozymes that may play a major role in the detoxification of aldehydes generated by alcohol metabolism and lipid peroxidation. This particular family member is over 10 kb in length and consists of at least 10 exons. Although the gene is highly homologous to closely related family members, an earlier in-frame stop codon suggests several possibilities. It could represent a nonprocessed pseudogene, a functional gene where the premature stop codon is suppressed, or a gene product where a downstream in-frame ATG serves as the initiator codon. The expression of these transcripts is restricted to the salivary gland among the human tissues examined. | SP Function: | Gene Ontology:
biological process: molecular function: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H005470_01
Name: Formin-like 3 |
Sum Func: The protein encoded by this gene contains a formin homology 2 domain and has high sequence identity to the mouse Wbp3 protein. Two alternative transcripts encoding different isoforms have been described. | SP Function: | Gene Ontology: | BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002972_01
Name: Lactate dehydrogenase A |
Sum Func: Lactate dehydrogenase A catalyzes the conversion of L-lactate and NAD to pyruvate and NADH in the final step of anaerobic glycolysis. LDHA is found predominantly in muscle tissue and belongs to the lactate dehydrogenase family. Mutations in LDHA have been linked to exertional myoglobinuria. | SP Function: | Gene Ontology:
molecular function: cellular component: biological process: molecular function: biological process: |
BioCarta Pathways:
1: SARS Coronavirus Protease 2: Hypoxia-Inducible Factor in the Cardiovascular System |
KEGG Pathways: |
| Unique id : H003659_01
Name: Aldehyde dehydrogenase 3 family, member A2 |
Sum Func: Aldehyde dehydrogenase isozymes are thought to play a major role in the detoxification of aldehydes generated by alcohol metabolism and lipid peroxidation. This gene product catalyzes the oxidation of long-chain aliphatic aldehydes to fatty acid. Mutations in the gene cause Sjogren-Larsson syndrome. | SP Function: catalyzes the oxidation of long-chain aliphatic aldehydes to fatty acids. active on a variety of saturated and unsaturated aliphatic aldehydes between 6 and 24 carbons in length. | Gene Ontology:
molecular function: biological process: cellular component: biological process: cellular component: biological process: cellular component: molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways:
1: Glycolysis / Gluconeogenesis 2: Ascorbate and aldarate metabolism 5: Valine, leucine and isoleucine degradation |
| Unique id : H001636_01
Name: Phosphoglycerate mutase 1 (brain) |
Sum Func: | SP Function: interconversion of 3- and 2-phosphoglycerate with 2,3- bisphosphoglycerate as the primer of the reaction. can also catalyze the reaction of ec 5.4.2.4 (synthase) and ec 3.1.3.13 (phosphatase), but with a reduced activity. | Gene Ontology:
molecular function: molecular function: cellular component: biological process: molecular function: molecular function: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H001378_01
Name: Phosphofructokinase, muscle |
Sum Func: | SP Function: | Gene Ontology:
molecular function: cellular component: molecular function: cellular component: biological process: biological process: biological process: molecular function: molecular function: biological process: molecular function: |
BioCarta Pathways:
1: Phosphoinositides and their downstream targets. |
KEGG Pathways:
1: Glycolysis / Gluconeogenesis |
| Unique id : H001136_01
Name: Glucose-6-phosphatase, catalytic (glycogen storage disease type I, von Gierke disease) |
Sum Func: Glucose-6-phosphatase is an integral membrane protein of the endoplasmic reticulum that catalyzes the hydrolysis of D-glucose 6-phosphate to D-glucose and orthophosphate. It is a key enzyme in glucose homeostasis, functioning in gluconeogenesis and glycogenolysis. Defects in the enzyme cause glycogen storage disease type I (von Gierke disease). | SP Function: may be a single membrane channel protein acting both as a hydrolase and a translocase. it is the key enzyme in homeostatic regulation of blood glucose levels. | Gene Ontology:
cellular component: cellular component: biological process: molecular function: biological process: biological process: molecular function: cellular component: cellular component: cellular component: molecular function: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways:
1: Glycolysis / Gluconeogenesis |
| Unique id : H003068_01
Name: Pyruvate kinase, muscle |
Sum Func: The protein encoded by this gene is a pyruvate kinase that catalyzes the production of phosphoenolpyruvate from pyruvate and ATP. This protein has been shown to interact with thyroid hormone, and thus may mediate cellular metabolic effects induced by thyroid hormones. This protein has been found to bind Opa protein, a bacterial outer membrane protein involved in gonococcal adherence to and invasion of human cells, suggesting a role of this protein in bacterial pathogenesis. Three alternatively spliced transcript variants encoding two distinct isoforms have been reported. | SP Function: | Gene Ontology:
cellular component: biological process: molecular function: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H000053_01
Name: BH3 interacting domain death agonist |
Sum Func: This gene encodes a death agonist that heterodimerizes with either agonist BAX or antagonist BCL2. The encoded protein is a member of the BCL-2 family of cell death regulators. It is a mediator of mitochondrial damage induced by caspase-8 (CASP8); CASP8 cleaves this encoded protein, and the COOH-terminal part translocates to mitochondria where it triggers cytochrome c release. Multiple alternatively spliced transcript variants have been found, but the full-length nature of some variants has not been defined. | SP Function: induces ice-like proteases and apoptosis. counters the protective effect of bcl-2 (by similarity). | Gene Ontology:
biological process: cellular component: molecular function: biological process: cellular component: cellular component: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002609_01
Name: Aldehyde dehydrogenase 3 family, member B1 |
Sum Func: The aldehyde dehydrogenases are a family of isozymes that may play a major role in the detoxification of aldehydes generated by alcohol metabolism and lipid peroxidation. This particular gene spans about 20 kb of genomic DNA and is composed of 9 coding exons. The gene encodes a single transcript of 2.8 kb which is highly expressed in kidney and lung. The functional significance of this gene as well as the cellular localization of its product are presently unknown. | SP Function: | Gene Ontology:
biological process: molecular function: biological process: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H001558_01
Name: Lactate dehydrogenase C |
Sum Func: Lactate dehydrogenase C catalyzes the conversion of L-lactate and NAD to pyruvate and NADH in the final step of anaerobic glycolysis. LDHC is testis-specific and belongs to the lactate dehydrogenase family. Two transcript variants have been detected which differ in the 5′ untranslated region. | SP Function: | Gene Ontology:
molecular function: biological process: molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003776_01
Name: Aldehyde dehydrogenase 2 family (mitochondrial) |
Sum Func: This protein belongs to the aldehyde dehydrogenase family of proteins. Aldehyde dehydrogenase is the second enzyme of the major oxidative pathway of alcohol metabolism. Two major liver isoforms of this enzyme, cytosolic and mitochondrial, can be distinguished by their electrophoretic mobilities, kinetic properties, and subcellular localizations. Most Caucasians have two major isozymes, while approximately 50% of Orientals have only the cytosolic isozyme, missing the mitochondrial isozyme. A remarkably higher frequency of acute alcohol intoxication among Orientals than among Caucasians could be related to the absence of the mitochondrial isozyme. This gene encodes a mitochondrial isoform, which has a low Km for acetaldehydes, and is localized in mitochondrial matrix. | SP Function: | Gene Ontology:
biological process: molecular function: molecular function: biological process: molecular function: cellular component: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H005249_01
Name: Aldehyde dehydrogenase 1 family, member A3 |
Sum Func: Aldehyde dehydrogenase isozymes are thought to play a major role in the detoxification of aldehydes generated by alcohol metabolism and lipid peroxidation. The gene for this human isozyme spans about 37 kb and consists of 13 exons. It is expressed at low levels in many tissues and at higher levels in salivary gland, stomach and kidney. The major transcript is approximately 3.5 kb; however, there is a less abundant transcript that is smaller by 111 bp in the 3′ non-coding region and uses an alternative polyadenylation signal. The significance of alternative splicing of this gene is currently unclear. | SP Function: recognizes as substrates free retinal and cellular retinol-binding protein-bound retinal. seems to be the key enzyme in the formation of an ra gradient along the dorso-ventral axis during the early eye development and also in the development of the olfactory system (by similarity). | Gene Ontology:
biological process: molecular function: biological process: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways:
1: Glycolysis / Gluconeogenesis 2: Ascorbate and aldarate metabolism 5: Valine, leucine and isoleucine degradation 7: Arginine and proline metabolism |
| Unique id : H006795_01
Name: 2,3-bisphosphoglycerate mutase |
Sum Func: | SP Function: plays a major role in regulating hemoglobin oxygen affinity as a consequence of controlling 2,3-bpg concentration. can also catalyze the reaction of ec 5.4.2.1 (mutase) and ec 3.1.3.13 (phosphatase), but with a reduced activity. | Gene Ontology:
molecular function: molecular function: biological process: biological process: molecular function: molecular function: biological process: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H001385_01
Name: Phosphofructokinase, liver |
Sum Func: Phosphofructokinase (PFK) is a tetrameric enzyme that catalyzes a key step in glycolysis, namely the conversion of D-fructose 6-phosphate to D-fructose 1,6-bisphosphate. Separate genes encode a muscle subunit (M) and a liver subunit (L). PFK from muscle is a homotetramer of M subunits, PFK from liver is a homotetramer of L-subunits, while PFK from platelets can be composed of any tetrameric combination of M and L subunits. The protein encoded by this gene represents the L subunit. Two transcript variants encoding different isoforms have been found for this gene. | SP Function: | Gene Ontology:
molecular function: cellular component: molecular function: biological process: biological process: molecular function: molecular function: molecular function: |
BioCarta Pathways:
1: Glycolysis Pathway |
KEGG Pathways:
1: Glycolysis / Gluconeogenesis |
| Unique id : H001547_01
Name: Aldehyde dehydrogenase 3 family, memberA1 |
Sum Func: Aldehyde dehydrogenases oxidize various aldehydes to the corresponding acids. They are involved in the detoxification of alcohol-derived acetaldehyde and in the metabolism of corticosteroids, biogenic amines, neurotransmitters, and lipid peroxidation. The enzyme encoded by this gene forms a cytoplasmic homodimer that preferentially oxidizes aromatic aldehyde substrates. The gene is located within the Smith-Magenis syndrome region on chromosome 17. | SP Function: aldhs play a major role in the detoxification of alcohol-derived acetaldehyde. they are involved in the metabolism of corticosteroids, biogenic amines, neurotransmitters, and lipid peroxidation. this protein preferentially oxidizes aromatic aldehyde substrates. it may play a role in the oxidation of toxic aldehydes. has a high km toward acetaldehyde. | Gene Ontology:
molecular function: biological process: biological process: cellular component: molecular function: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways:
1: Glycolysis / Gluconeogenesis 2: Ascorbate and aldarate metabolism 5: Valine, leucine and isoleucine degradation 7: Arginine and proline metabolism |
| Unique id : H002279_01
Name: Metastasis associated 1 |
Sum Func: This gene encodes a protein that was identified in a screen for genes expressed in metastatic cells, specifically, mammary adenocarcinoma cell lines. Expression of this gene has been correlated with the metastatic potential of at least two types of carcinomas although it is also expressed in many normal tissues. The role it plays in metastasis is unclear. It was initially thought to be the 70kD component of a nucleosome remodeling deacetylase complex, NuRD, but it is more likely that this component is a different but very similar protein. These two proteins are so closely related, though, that they share the same types of domains. These domains include two DNA binding domains, a dimerization domain, and a domain commonly found in proteins that methylate DNA. The profile and activity of this gene product suggest that it is involved in regulating transcription and that this may be accomplished by chromatin remodeling. | SP Function: may be involved in the regulation of gene expression by covalent modification of histone proteins. the long isoform is a corepressor of estrogen receptor (er). the short isoform binds to er and sequesters it in the cytoplasm and enhances non-genomic responses of er. | Gene Ontology:
cellular component: biological process: biological process: cellular component: biological process: molecular function: molecular function: |
BioCarta Pathways:
1: Downregulated of MTA-3 in ER-negative Breast Tumors |
KEGG Pathways: |
| Unique id : H015409_01
Name: Tubulin, alpha 4 |
Sum Func: | SP Function: | Gene Ontology:
molecular function: molecular function: biological process: biological process: molecular function: cellular component: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003339_01
Name: Heat shock 27kDa protein 2 |
Sum Func: | SP Function: | Gene Ontology:
cellular component: molecular function: molecular function: biological process: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H000403_01
Name: Fc fragment of IgE, high affinity I, receptor for; gamma polypeptide |
Sum Func: The high affinity IgE receptor is a key molecule involved in allergic reactions. It is a tetramer composed of 1 alpha, 1 beta, and 2 gamma chains. The gamma chains are also subunits of other Fc receptors. | SP Function: the gamma subunit has a critical role in allowing the ige fc receptor to reach the cell surface. | Gene Ontology:
molecular function: biological process: biological process: cellular component: molecular function: molecular function: |
BioCarta Pathways:
1: Fc Epsilon Receptor I Signaling in Mast Cells |
KEGG Pathways: |
| Unique id : H003870_01
Name: Bruton agammaglobulinemia tyrosine kinase |
Sum Func: Defects in the Bruton tyrosine kinase (BTK) gene cause Agammaglobulinemia. Agammaglobulinemia is an X-linked immunodeficiency characterized by failure to produce mature B lymphocyte cells and associated with a failure of Ig heavy chain rearrangement. | SP Function: plays a crucial role in b-cell ontogeny. transiently phosphorylates gtf2i on tyrosine residues in response to b cell receptor cross linking. | Gene Ontology:
molecular function: cellular component: biological process: biological process: biological process: biological process: molecular function: molecular function: |
BioCarta Pathways:
1: BCR Signaling Pathway 2: Fc Epsilon Receptor I Signaling in Mast Cells 3: 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 : H001979_01
Name: Protein phosphatase 3 (formerly 2B), catalytic subunit, beta isoform (calcineurin A beta) |
Sum Func: | SP Function: calcium-dependent, calmodulin-stimulated protein phosphatase. this subunit may have a role in the calmodulin activation of calcineurin. | Gene Ontology:
cellular component: molecular function: molecular function: molecular function: molecular function: biological process: molecular function: biological process: biological process: biological process: |
BioCarta Pathways: | KEGG Pathways:
3: Apoptosis 10: Natural killer cell mediated cytotoxicity 11: T cell receptor signaling pathway |
| Unique id : H003578_01
Name: Protein phosphatase 3 (formerly 2B), catalytic subunit, gamma isoform (calcineurin A gamma) |
Sum Func: Calmodulin-dependent protein phosphatase, calcineurin, is involved in a wide range of biologic activities, acting as a Ca(2+)-dependent modifier of phosphorylation status. In testis, the motility of the sperm is thought to be controlled by cAMP-dependent phosphorylation and a unique form of calcineurin appears to be associated with the flagellum. The calcineurin holoenzyme is composed of catalytic and regulatory subunits of 60 and 18 kD, respectively. At least 3 genes, calcineurin A-alpha (CALNA1; MIM 114105), calcineurin A-beta (CALNA2; MIM 114106), and calcineurin A-gamma (CALNA3), have been cloned for the catalytic subunit. These genes have been identified in humans, mice, and rats, and are highly conserved between species (90 to 95% amino acid identity).[supplied by OMIM] | SP Function: calcium-dependent, calmodulin-stimulated protein phosphatase. this subunit may have a role in the calmodulin activation of calcineurin. | Gene Ontology:
cellular component: molecular function: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways:
3: Apoptosis 10: Natural killer cell mediated cytotoxicity 11: T cell receptor signaling pathway |
| Unique id : H000983_01
Name: Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide |
Sum Func: The IgE receptor plays a central role in allergic disease, coupling allergen and mast cell to initiate the inflammatory and immediate hypersensitivity responses that are characteristic of disorders such as hay fever and asthma. The allergic response occurs when 2 or more high-affinity IgE receptors are cross linked via IgE molecules that in turn are bound to an allergen (antigen) molecule. A perturbation occurs that brings about the release of histamine and proteases from the granules in the cytoplasm of the mast cell and leads to the synthesis of prostaglandins and leukotrienes–potent effectors of the hypersensitivity response. The IgE receptor consists of 3 subunits: alpha, beta (MIM 147138), and gamma (MIM 147139); only the alpha subunit is glycosylated.[supplied by OMIM] | SP Function: binds to the fc region of immunoglobulins epsilon. high affinity receptor. responsible for initiating the allergic response. binding of allergen to receptor-bound ige leads to cell activation and the release of mediators (such as histamine) responsible for the manifestations of allergy. the same receptor also induces the secretion of important lymphokines. | Gene Ontology:
molecular function: biological process: cellular component: molecular function: molecular function: |
BioCarta Pathways:
1: Fc Epsilon Receptor I Signaling in Mast Cells |
KEGG Pathways: |
| Unique id : H002470_01
Name: Nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3 |
Sum Func: The product of this gene is a member of the nuclear factors 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. Other members of this family participate to form this complex also. The product of this gene plays a role in the regulation of gene expression in T cells and immature thymocytes. Four transcript variants encoding distinct isoforms have been identified for this gene. | SP Function: plays a role in the inducible expression of cytokine genes in t cells, especially in the induction of the il-2. | Gene Ontology:
biological process: cellular component: biological process: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H000015_01
Name: Dedicator of cytokinesis 1 |
Sum Func: This gene product binds to the SH3 domain of CRK protein. It may regulate cell surface extension and may have a role in the cell surface extension of an engulfing cell around a dying cell during apoptosis. | SP Function: | Gene Ontology:
molecular function: molecular function: molecular function: biological process: cellular component: molecular function: biological process: cellular component: biological process: biological process: biological process: |
BioCarta Pathways:
1: Signaling of Hepatocyte Growth Factor Receptor |
KEGG Pathways: |
| Unique id : H003533_01
Name: Paxillin |
Sum Func: | SP Function: cytoskeletal protein involved in actin-membrane attachment at sites of cell adhesion to the extracellular matrix (focal adhesion). | Gene Ontology:
biological process: biological process: cellular component: cellular component: molecular function: biological process: biological process: molecular function: |
BioCarta Pathways:
1: Agrin in Postsynaptic Differentiation 2: Cell to Cell Adhesion Signaling 3: Apoptotic Signaling in Response to DNA Damage 4: CXCR4 Signaling Pathway 5: Erk and PI-3 Kinase Are Necessary for Collagen Binding in Corneal Epithelia 6: Integrin Signaling Pathway 7: mCalpain and friends in Cell motility 8: Signaling of Hepatocyte Growth Factor Receptor 9: uCalpain and friends in Cell spread 10: VEGF, Hypoxia, and Angiogenesis |
KEGG Pathways: |
| Unique id : H003724_01
Name: Integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12) |
Sum Func: Integrins are heterodimeric proteins made up of alpha and beta subunits. At least 18 alpha and 8 beta subunits have been described in mammals. Integrin family members are membrane receptors involved in cell adhesion and recognition in a variety of processes including embryogenesis, hemostasis, tissue repair, immune response and metatastatic diffusion of tumor cells. The protein encoded by this gene is a beta subunit. Six alternatively spliced variants have been found for this gene which encode five proteins with alternate carboxy termini. | SP Function: integrins alpha-1/beta-1, alpha-2/beta-1, alpha-10/beta- 1 and alpha-11/beta-1 are receptors for collagen. integrins alpha- 1/beta-1 and alpha-2/beta-2 recognize the proline-hydroxylated sequence g-f-p-g-e-r in collagen. integrins alpha-2/beta-1, alpha- 3/beta-1, alpha-4/beta-1, alpha-5/beta-1, alpha-8/beta-1, alpha- 10/beta-1, alpha-11/beta-1 and alpha-v/beta-1 are receptors for fibronectin. alpha-4/beta-1 recognizes one or more domains within the alternatively spliced cs-1 and cs-5 regions of fibronectin. integrin alpha-5/beta-1 is a receptor for fibrinogen. integrin alpha-1/beta-1, alpha-2/beta-1, alpha-6/beta-1 and alpha-7/beta-1 are receptors for lamimin. integrin alpha-4/beta-1 is a receptor for vcam1. it recognizes the sequence q-i-d-s in vcam1. integrin alpha-9/beta-1 is a receptor for vcam1, cytotactin and osteopontin. it recognizes the sequence a-e-i-d-g-i-e-l in cytotactin. integrin alpha-3/beta-1 is a receptor for epiligrin and thrombospondin. integrin alpha-v/beta-1 is a receptor for vitronectin. beta-1 integrins recognize the sequence r-g-d in a wide array of ligands. isoform beta-1b interferes with isoform beta-1a resulting in a dominant negative effect on cell adhesion and migration (in vitro). | Gene Ontology:
biological process: biological process: biological process: biological process: cellular component: cellular component: cellular component: biological process: molecular function: molecular function: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002800_01
Name: Connective tissue growth factor |
Sum Func: | SP Function: major connective tissue mitoattractant secreted by vascular endothelial cells. promotes proliferation and differentiation of chondrocytes. mediates heparin- and divalent cation-dependent cell adhesion in many cell types including fibroblasts, myofibroblasts, endothelial and epithelial cells. enhances fibroblast growth factor-induced dna synthesis. | Gene Ontology:
biological process: biological process: biological process: biological process: biological process: cellular component: cellular component: molecular function: molecular function: cellular component: molecular function: biological process: biological process: cellular component: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002931_01
Name: Selectin L (lymphocyte adhesion molecule 1) |
Sum Func: SELL is a cell surface component that is a member of a family of adhesion/homing receptors which play important roles in leukocyte-endothelial cell interactions. The molecule is composed of multiple domains: one homologous to lectins, one to epidermal growth factor, and two to the consensus repeat units found in C3/C4 binding proteins. | SP Function: cell surface adhesion protein. mediate the adherence of lymphocytes to endothelial cells of high endothelial venules in peripheral lymph nodes. | Gene Ontology:
biological process: biological process: cellular component: molecular function: molecular function: |
BioCarta Pathways:
1: Adhesion and Diapedesis of Granulocytes 2: Adhesion and Diapedesis of Lymphocytes 3: Adhesion Molecules on Lymphocyte 4: Monocyte and its Surface Molecules 5: Neutrophil and Its Surface Molecules |
KEGG Pathways: |
| Unique id : H000459_01
Name: Serine protease inhibitor, Kunitz type, 2 |
Sum Func: | SP Function: inhibitor of hgf activator. also inhibits plasmin, plasma and tissue kallikrein, and factor xia. | Gene Ontology:
biological process: cellular component: cellular component: molecular function: cellular component: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002944_01
Name: Interleukin 8 |
Sum Func: The protein encoded by this gene is a member of the CXC chemokine family. This chemokine is one of the major mediators of the inflammatory response. This chemokine is secreted by several cell types. It functions as a chemoattractant, and is also a potent angiogenic factor. This gene is believed to play a role in the pathogenesis of bronchiolitis, a common respiratory tract disease caused by viral infection. This gene and other ten members of the CXC chemokine gene family form a chemokine gene cluster in a region mapped to chromosome 4q. | SP Function: il-8 is a chemotactic factor that attracts neutrophils, basophils, and t-cells, but not monocytes. it is also involved in neutrophil activation. it is released from several cell types in response to an inflammatory stimulus. il-8(6-77) has a 5-10-fold higher activity on neutrophil activation, and il-8(7-77) has a higher affinity to receptors cxcr1 and cxcr2 as compared to il- 8(1-77), respectively. | Gene Ontology:
biological process: biological process: biological process: biological process: biological process: biological process: molecular function: biological process: cellular component: biological process: biological process: molecular function: biological process: biological process: biological process: biological process: molecular function: biological process: biological process: cellular component: |
BioCarta Pathways:
1: Cells and Molecules involved in local acute inflammatory response 2: Cytokine Network 3: Free Radical Induced Apoptosis 4: Adhesion and Diapedesis of Granulocytes 5: IL 17 Signaling Pathway 6: Cytokines and Inflammatory Response 7: Adhesion and Diapedesis of Lymphocytes 8: NFkB activation by Nontypeable Hemophilus influenzae 9: Proepithelin Conversion to Epithelin and Wound Repair Control 10: Regulation of hematopoiesis by cytokines |
KEGG Pathways: |
| Unique id : H000633_01
Name: Coronin, actin binding protein, 1A |
Sum Func: | SP Function: may be a crucial component of the cytoskeleton of highly motile cells, functioning both in the invagination of large pieces of plasma membrane, as well as in forming protrusions of the plasma membrane involved in cell locomotion. in mycobacteria- infected cells, its retention on the phagosomal membrane prevents fusion between phagosomes and lysosomes. | Gene Ontology:
molecular function: cellular component: biological process: cellular component: biological process: molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002936_01
Name: Macrophage stimulating 1 receptor (c-met-related tyrosine kinase) |
Sum Func: | SP Function: receptor for macrophage stimulating protein (msp). has a tyrosine-protein kinase activity. | Gene Ontology:
molecular function: biological process: biological process: biological process: cellular component: molecular function: biological process: biological process: molecular function: molecular function: biological process: molecular function: |
BioCarta Pathways:
1: Msp/Ron Receptor 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 : H004577_01
Name: Vasodilator-stimulated phosphoprotein |
Sum Func: | SP Function: actin- and profilin-binding microfilament-associated protein. may act in concert with profilin to convey signal transduction to actin filament production. | Gene Ontology:
molecular function: cellular component: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H004361_01
Name: Thioredoxin |
Sum Func: | SP Function: adf augments the expression of the interleukin-2 receptor tac (il2r/p55). | Gene Ontology:
biological process: biological process: biological process: biological process: molecular function: biological process: molecular function: |
BioCarta Pathways:
1: Chaperones modulate interferon Signaling Pathway |
KEGG Pathways: |
| Unique id : H002869_01
Name: Platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit 45kDa |
Sum Func: PAFAH1B1 was identified as encoding a gene that when mutated or lost caused the lissencephaly associated with Miller-Dieker lissencephaly syndrome. PAFAH1B1 encodes the non-catalytic alpha subunit of the intracellular Ib isoform of platelet-activating factor acetylhydrolase, a heterotrimeric enzyme that specifically catalyzes the removal of the acetyl group at the SN-2 position of platelet-activating factor (identified as 1-O-alkyl-2-acetyl-sn-glyceryl-3-phosphorylcholine). Two other isoforms of intracellular platelet-activating factor acetylhydrolase exist: one composed of multiple subunits, the other, a single subunit. In addition, a single-subunit isoform of this enzyme is found in serum. | SP Function: probably involved in nuclear migration during cell division. participates in the process of neuronal cell differentiation or brain development, possibly by through its role in nuclear migration of differentiating neurons. may participate in targeting cytoplasmic dynein to the microtubule plus ends, thereby playing an essential role in dynein-mediated microtubule sliding. non-catalytic subunit of a acetylhydrolase complex, a complex that inactivates platelet-activating factor (paf) by removing the acetyl group at the sn-2 position. | Gene Ontology:
biological process: biological process: cellular component: biological process: biological process: biological process: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H001342_01
Name: Lymphocyte-specific protein 1 |
Sum Func: | SP Function: not known. the authors believe that it may be involved in transmembrane signal transduction through a postulated calcium- binding function, but the evidence for the existence of a calcium- binding region is weak. | Gene Ontology:
molecular function: cellular component: biological process: biological process: molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H015282_01
Name: Dynein, axonemal, heavy polypeptide 9 |
Sum Func: This gene encodes the heavy chain subunit of axonemal dynein, a large multi-subunit molecular motor. Axonemal dynein attaches to microtubules and hydrolyzes ATP to mediate the movement of cilia and flagella. The gene expresses at least two transcript variants; additional variants have been described, but their full length nature has not been determined. | SP Function: | Gene Ontology:
molecular function: cellular component: biological process: cellular component: cellular component: molecular function: molecular function: biological process: molecular function: molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H005850_01
Name: Dynein, axonemal, heavy polypeptide 9 |
Sum Func: This gene encodes the heavy chain subunit of axonemal dynein, a large multi-subunit molecular motor. Axonemal dynein attaches to microtubules and hydrolyzes ATP to mediate the movement of cilia and flagella. The gene expresses at least two transcript variants; additional variants have been described, but their full length nature has not been determined. | SP Function: | Gene Ontology:
molecular function: cellular component: biological process: cellular component: cellular component: molecular function: molecular function: biological process: molecular function: molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H012622_01
Name: Actin related protein 2/3 complex, subunit 1B, 41kDa |
Sum Func: This gene encodes one of seven subunits of the human Arp2/3 protein complex. This subunit is a member of the SOP2 family of proteins and is most similar to the protein encoded by gene ARPC1A. The similarity between these two proteins suggests that they both may function as p41 subunit of the human Arp2/3 complex that has been implicated in the control of actin polymerization in cells. It is possible that the p41 subunit is involved in assembling and maintaining the structure of the Arp2/3 complex. Multiple versions of the p41 subunit may adapt the functions of the complex to different cell types or developmental stages. | SP Function: part of a complex implicated in the control of actin polymerization in cells. | Gene Ontology:
cellular component: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H001765_01
Name: Myristoylated alanine-rich protein kinase C substrate |
Sum Func: The protein encoded by this gene is a substrate for protein kinase C. It is localized to the plasma membrane and is an actin filament cross linking protein. Phosphorylation by protein kinase C or binding to calcium-calmodulin inhibits its association with actin and with the plasma membrane, leading to its presence in the cytoplasm. The protein is thought to be involved in cell motility, phagocytosis, membrane trafficking and mitogenesis. | SP Function: marcks is the most prominent cellular substrate for protein kinase c. this protein binds calmodulin, actin, and synapsin. marcks is a filamentous (f) actin cross linking protein. | Gene Ontology:
cellular component: molecular function: molecular function: biological process: cellular component: |
BioCarta Pathways:
1: Effects of calcineurin in Keratinocyte Differentiation |
KEGG Pathways: |
| Unique id : H002937_01
Name: Fibronectin 1 |
Sum Func: This gene encodes fibronectin, a glycoprotein present in a soluble dimeric form in plasma, and in a dimeric or multimeric form at the cell surface and in extracellular matrix. Fibronectin is involved in cell adhesion and migration processes including embryogenesis, wound healing, blood coagulation, host defense, and metastasis. The gene has three regions subject to alternative splicing, with the potential to produce 20 different transcript variants. However, the full-length nature of some variants has not been determined. | SP Function: fibronectins bind cell surfaces and various compounds including collagen, fibrin, heparin, dna, and actin. fibronectins are involved in cell adhesion, cell motility, opsonization, wound healing, and maintenance of cell shape. | Gene Ontology:
biological process: biological process: biological process: molecular function: molecular function: cellular component: cellular component: molecular function: biological process: molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H000967_01
Name: Thrombospondin 4 |
Sum Func: The protein encoded by this gene belongs to the thrombospondin protein family. Thrombospondin family members are adhesive glycoproteins that mediate cell-to-cell and cell-to-matrix interactions. This protein forms a pentamer and can bind to heparin and calcium. Studies of the rat counterpart suggest that this protein may be involved in local signaling in the developing and adult nervous system. | SP Function: adhesive glycoprotein that mediates cell-to-cell and cell-to-matrix interactions. can bind to fibrinogen, fibronectin, laminin and type v collagen. | Gene Ontology:
molecular function: molecular function: biological process: cellular component: cellular component: molecular function: molecular function: molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H015328_01
Name: F11 receptor |
Sum Func: Tight junctions represent one mode of cell-to-cell adhesion in epithelial or endothelial cell sheets, forming continuous seals around cells and serving as a physical barrier to prevent solutes and water from passing freely through the paracellular space. The protein encoded by this immunoglobulin superfamily gene member is an important regulator of tight junction assembly in epithelia. In addition, the encoded protein can act as (1) a receptor for reovirus, (2) a ligand for the integrin LFA1, involved in leukocyte transmigration, and (3) a platelet receptor. Five transcript variants encoding two different isoforms have been found for this gene. | SP Function: seems to plays a role in epithelial tight junction formation. appears early in primordial forms of cell junctions and recruits pard3. the association of the pard6-pard3 complex may prevent the interaction of pard3 with jam1, thereby preventing tight junction assembly (by similarity). plays a role in regulating monocyte transmigration involved in integrity of epithelial barrier. involved in platelet activation. | Gene Ontology:
biological process: biological process: cellular component: cellular component: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H011553_01
Name: Katanin p80 (WD repeat containing) subunit B 1 |
Sum Func: Microtubules, polymers of alpha and beta tubulin subunits, form the mitotic spindle of a dividing cell and help to organize membranous organelles during interphase. Katanin is a heterodimer that consists of a 60 kDa ATPase (p60 subunit A 1) and an 80 kDa accessory protein (p80 subunit B 1). The p60 subunit acts to sever and disassemble microtubules, while the p80 subunit targets the enzyme to the centrosome. Katanin is a member of the AAA family of ATPases. | SP Function: | Gene Ontology: | BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003564_01
Name: Sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E |
Sum Func: | SP Function: | Gene Ontology:
biological process: biological process: cellular component: cellular component: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002477_01
Name: Neogenin homolog 1 (chicken) |
Sum Func: | SP Function: may be involved as a regulatory protein in the transition of undifferentiated proliferating cells to their differentiated state. may also function as a cell adhesion molecule in a broad spectrum of embryonic and adult tissues. | Gene Ontology:
biological process: biological process: biological process: biological process: cellular component: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002750_01
Name: Neuropeptide Y |
Sum Func: | SP Function: npy is implicated in the control of feeding and in secretion of gonadotrophin-release hormone. | Gene Ontology:
molecular function: biological process: molecular function: biological process: cellular component: biological process: biological process: biological process: biological process: cellular component: biological process: molecular function: biological process: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H010731_01
Name: ADP-ribosylation factor interacting protein 2 (arfaptin 2) |
Sum Func: | SP Function: | Gene Ontology:
molecular function: biological process: molecular function: biological process: |
BioCarta Pathways:
1: Rac 1 cell motility signaling pathway |
KEGG Pathways: |
| Unique id : H007632_01
Name: Tumor necrosis factor receptor superfamily, member 12A |
Sum Func: | SP Function: | Gene Ontology:
biological process: biological process: biological process: biological process: biological process: cellular component: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H005765_01
Name: A kinase (PRKA) anchor protein 3 |
Sum Func: The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins, which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family, and is expressed in testis only. The encoded protein contains an RII-binding domain, and is predicted to participate in protein-protein interactions with the R-subunit of the PKA. This protein is localized to the ribs of the fibrous sheath in the principal piece of the sperm tail. It may function as a regulator of both motility- and head-associated functions such as capacitation and the acrosome reaction. | SP Function: may function as a regulator of both motility- and head- associated functions such as capacitation and the acrosome reaction. | Gene Ontology:
biological process: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H005714_01
Name: A kinase (PRKA) anchor protein 4 |
Sum Func: The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins, which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. The encoded protein is localized to the sperm flagellum and may be involved in the regulation of sperm motility. Alternative splicing of this gene results in two transcript variants encoding different isoforms. | SP Function: | Gene Ontology:
cellular component: biological process: cellular component: biological process: molecular function: molecular function: biological process: biological process: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H000220_01
Name: Guanine nucleotide binding protein (G protein), alpha 13 |
Sum Func: | 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: molecular function: molecular function: biological process: |
BioCarta Pathways:
1: Thrombin signaling and protease-activated receptors 2: PKC-catalyzed phosphorylation of inhibitory phosphoprotein of myosin phosphatase |
KEGG Pathways: |
| Unique id : H013061_01
Name: Cerebral endothelial cell adhesion molecule 1 |
Sum Func: | SP Function: | Gene Ontology:
biological process: cellular component: biological process: biological process: cellular component: cellular component: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002922_01
Name: Annexin A1 |
Sum Func: Annexin I belongs to a family of Ca(2+)-dependent phospholipid binding proteins which have a molecular weight of approximately 35,000 to 40,000 and are preferentially located on the cytosolic face of the plasma membrane. Annexin I protein has an apparent relative molecular mass of 40 kDa, with phospholipase A2 inhibitory activity. Since phospholipase A2 is required for the biosynthesis of the potent mediators of inflammation, prostaglandins and leukotrienes, annexin I may have potential anti-inflammatory activity. | SP Function: calcium/phospholipid-binding protein which promotes membrane fusion and is involved in exocytosis. this protein regulates phospholipase a2 activity. it seems to bind from two to four calcium ions with high affinity. | Gene Ontology:
molecular function: molecular function: biological process: biological process: biological process: biological process: molecular function: molecular function: |
BioCarta Pathways:
1: Corticosteroids and cardioprotection |
KEGG Pathways: |
| Unique id : H013376_01
Name: Capping protein (actin filament) muscle Z-line, alpha 2 |
Sum Func: The protein encoded by this gene is a member of the F-actin capping protein alpha subunit family. It is the alpha subunit of the barbed-end actin binding protein Cap Z. By capping the barbed end of actin filaments, Cap Z regulates the growth of the actin filaments at the barbed end. | SP Function: f-actin capping proteins bind in a ca(2+)-independent manner to the fast growing ends of actin filaments (barbed end) thereby blocking the exchange of subunits at these ends. unlike other capping proteins (such as gelsolin and severin), these proteins do not sever actin filaments. | Gene Ontology:
cellular component: molecular function: biological process: biological process: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H011225_01
Name: Serine (or cysteine) proteinase inhibitor, clade I (neuroserpin), member 2 |
Sum Func: The protein encoded by this gene is a member of the serine protease inhibitor (serpin) superfamily made up of proteins which play central roles in the regulation of a wide variety of physiological processes, including coagulation, fibrinolysis, development, malignancy and inflammation. The gene product may have a role in a growth-control, possibly growth-suppressing pathway and, when impaired, may be involved in pancreatic carcinogenesis. The protein is a member of the plasminogen activator inhibitor-1 family, a subset of the serpin superfamily whose members act as tissue-specific tPA inhibitors. | SP Function: | Gene Ontology:
biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H004767_01
Name: Transmembrane 4 superfamily member 8 |
Sum Func: The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. The use of alternate polyadenylation sites has been found for this gene. Two alternative transcripts encoding different isoforms have been described. | SP Function: | Gene Ontology:
biological process: biological process: cellular component: cellular component: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H015920_01
Name: Thioredoxin |
Sum Func: | SP Function: adf augments the expression of the interleukin-2 receptor tac (il2r/p55). | Gene Ontology:
biological process: biological process: biological process: biological process: molecular function: biological process: molecular function: |
BioCarta Pathways:
1: Chaperones modulate interferon Signaling Pathway |
KEGG Pathways: |
| Unique id : H010773_01
Name: Actin related protein 2/3 complex, subunit 4, 20kDa |
Sum Func: This gene encodes one of seven subunits of the human Arp2/3 protein complex. The Arp2/3 protein complex has been implicated in the control of actin polymerization in cells and has been conserved through evolution. The exact role of the protein encoded by this gene, the p20 subunit, has yet to be determined. | SP Function: | Gene Ontology:
biological process: cellular component: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H000791_01
Name: Platelet-activating factor acetylhydrolase, isoform Ib, beta subunit 30kDa |
Sum Func: | SP Function: | Gene Ontology:
molecular function: biological process: cellular component: molecular function: biological process: cellular component: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003496_01
Name: Chemokine (C-X-C motif) ligand 10 |
Sum Func: This gene encodes the interferon (gamma)-induced protein of 10kDa, a chemokine of the CXC subfamily that is one of the ligands for the receptor CXCR3. The binding of this protein to CXCR3 causes pleiotropic effects, including stimulation of monocytes, natural killer and T-cell migration, and modulation of adhesion molecule expression. | SP Function: chemotactic for monocytes and t lymphocytes. binds to cxcr3. | Gene Ontology:
molecular function: biological process: biological process: biological process: molecular function: biological process: biological process: cellular component: biological process: biological process: biological process: biological process: cellular component: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H007284_01
Name: Chondroitin sulfate proteoglycan 4 (melanoma-associated) |
Sum Func: A human melanoma-associated chondroitin sulfate proteoglycan plays a role in stabilizing cell-substratum interactions during early events of melanoma cell spreading on endothelial basement membranes. CSPG4 represents an integral membrane chondroitin sulfate proteoglycan expressed by human malignant melanoma cells. | SP Function: | Gene Ontology:
biological process: biological process: cellular component: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003708_01
Name: Thioredoxin |
Sum Func: | SP Function: adf augments the expression of the interleukin-2 receptor tac (il2r/p55). | Gene Ontology:
biological process: biological process: biological process: biological process: molecular function: biological process: molecular function: |
BioCarta Pathways:
1: Chaperones modulate interferon Signaling Pathway |
KEGG Pathways: |
| Unique id : H006937_01
Name: Hypothetical protein FLJ10211 |
Sum Func: | SP Function: | Gene Ontology: | BioCarta Pathways: | KEGG Pathways: |
| Unique id : H006776_01
Name: Tetraspan 1 |
Sum Func: The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. | SP Function: | Gene Ontology:
biological process: biological process: biological process: cellular component: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H013182_01
Name: ARP2 actin-related protein 2 homolog (yeast) |
Sum Func: The specific function of this gene has not yet been determined; however, the protein it encodes is known to be a major constituent of the ARP2/3 complex. This complex is located at the cell surface and is essential to cell shape and motility through lamellipodial actin assembly and protrusion. Two transcript variants encoding different isoforms have been found for this gene. | SP Function: | Gene Ontology:
cellular component: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H007017_01
Name: Extracellular link domain containing 1 |
Sum Func: This gene encodes a type I integral membrane glycoprotein. The encoded protein acts as a receptor and binds to both soluble and immobilized hyaluronan. This protein may function in lymphatic hyaluronan transport and have a role in tumor metastasis. | SP Function: | Gene Ontology:
biological process: biological process: biological process: molecular function: cellular component: cellular component: biological process: molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H011434_01
Name: ARP3 actin-related protein 3 homolog (yeast) |
Sum Func: The specific function of this gene has not yet been determined; however, the protein it encodes is known to be a major constituent of the ARP2/3 complex. This complex is located at the cell surface and is essential to cell shape and motility through lamellipodial actin assembly and protrusion. | SP Function: | Gene Ontology:
cellular component: molecular function: |
BioCarta Pathways:
1: Signaling Pathway from G-Protein Families 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 : H002891_01
Name: Chemokine (C-C motif) ligand 4 |
Sum Func: | SP Function: monokine with inflammatory and chemokinetic properties. binds to ccr5 and to ccr8. one of the major HIV suppressive factors produced by cd8+ t cells. recombinant mip-1-beta induces a dose-dependent inhibition of different strains of hiv-1, hiv-2, and simian immunodeficiency virus (siv). the processed form mip-1- beta(3-69) retains the abilities to induce down-modulation of surface expression of the chemokine receptor ccr5 and to inhibit the ccr5-mediated entry of hiv-1 in t cells. mip-1-beta(3-69) is also a ligand for ccr1 and ccr2 isoform b. | Gene Ontology:
biological process: biological process: biological process: biological process: molecular function: biological process: biological process: cellular component: biological process: biological process: molecular function: biological process: biological process: biological process: |
BioCarta Pathways:
1: Pertussis toxin-insensitive CCR5 Signaling in Macrophage 2: Selective expression of chemokine receptors during T-cell polarization |
KEGG Pathways: |
| Unique id : H000822_01
Name: Filamin A, alpha (actin binding protein 280) |
Sum Func: Actin-binding protein, or filamin, is a 280-kD protein that cross links actin filaments into orthogonal networks in cortical cytoplasm and participates in the anchoring of membrane proteins for the actin cytoskeleton. Remodeling of the cytoskeleton is central to the modulation of cell shape and migration. Filamin A, encoded by the FLNA gene, is a widely expressed protein that regulates reorganization of the actin cytoskeleton by interacting with integrins, transmembrane receptor complexes, and second messengers.[supplied by OMIM] | SP Function: promotes orthogonal branching of actin filaments and links actin filaments to membrane glycoproteins. anchors various transmembrane proteins to the actin cytoskeleton and serves as a scaffold for a wide range of cytoplasmic signaling proteins. interaction with FLNA may allow neuroblast migration from the ventricular zone into the cortical plate. tethers cell surface- localized furin, modulates its rate of internalization and directs its intracellular trafficking (by similarity). | Gene Ontology:
molecular function: cellular component: biological process: molecular function: biological process: biological process: biological process: biological process: biological process: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H009065_01
Name: Muskelin 1, intracellular mediator containing kelch motifs |
Sum Func: | SP Function: | Gene Ontology: | BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003672_01
Name: FOS-like antigen 1 |
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: biological process: cellular component: biological process: biological process: biological process: molecular function: |
BioCarta Pathways:
1: Bone Remodelling |
KEGG Pathways: |
| Unique id : H008667_01
Name: Calcineurin binding protein 1 |
Sum Func: Calcineurin plays an important role in the T-cell receptor-mediated signal transduction pathway. The protein encoded by this gene binds specifically to the activated form of calcineurin and inhibits calcineurin-mediated signal transduction. The encoded protein is found in the nucleus and contains a leucine zipper domain as well as several PEST motifs, sequences which confer targeted degradation to those proteins which contain them. At least four alternatively spliced transcripts have been found for this gene, but the full-length nature of most of them has not been determined. | SP Function: it may serve as a negative regulator of t cell receptor (tcr) signaling via inhibition of calcineurin. interacts with and inhibits calcineurin-mediated signal transduction. cabin 1 is specific for the activated form of calcineurin, their interaction is dependent on both pkc and calcium signals. | Gene Ontology:
biological process: cellular component: molecular function: |
BioCarta Pathways:
1: Control of skeletal myogenesis by HDAC & calcium/calmodulin-dependent kinase (CaMK) 2: Role of MEF2D in T-cell Apoptosis |
KEGG Pathways: |
| Unique id : H002831_01
Name: Fc fragment of IgG, low affinity IIIb, receptor for (CD16) |
Sum Func: | SP Function: receptor for the fc region of igg. binds complexed or aggregated igg and also monomeric igg. mediates antibody-dependent cellular cytotoxicity (adcc) and other antibody-dependent responses, such as phagocytosis. | Gene Ontology:
molecular function: biological process: cellular component: cellular component: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H015723_01
Name: Fc fragment of IgG, low affinity IIIb, receptor for (CD16) |
Sum Func: | SP Function: receptor for the fc region of igg. binds complexed or aggregated igg and also monomeric igg. mediates antibody-dependent cellular cytotoxicity (adcc) and other antibody-dependent responses, such as phagocytosis. | Gene Ontology:
molecular function: biological process: cellular component: cellular component: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002997_01
Name: Vascular endothelial growth factor |
Sum Func: Many polypeptide mitogens, such as basic fibroblast growth factor (FGFB; MIM 134920) and platelet-derived growth factors (MIM 173430, MIM 190040), are active on a wide range of different cell types. In contrast, vascular endothelial growth factor is a mitogen primarily for vascular endothelial cells. It is, however, structurally related to platelet-derived growth factor.[supplied by OMIM] | SP Function: growth factor active in angiogenesis, vasculogenesis and endothelial cell growth. induces endothelial cell proliferation, promotes cell migration, inhibits apoptosis, and induces permeabilization of blood vessels. binds to the vegfr1/flt-1 and vegfr2/kdr receptors, heparan sulfate and heparin. neuropilin-1 binds isoforms vegf-165 and vegf-145. | Gene Ontology:
biological process: biological process: biological process: biological process: cellular component: molecular function: molecular function: molecular function: biological process: cellular component: biological process: biological process: biological process: biological process: biological process: molecular function: biological process: biological process: biological process: molecular function: biological process: |
BioCarta Pathways:
1: Hypoxia-Inducible Factor in the Cardiovascular System 2: Actions of Nitric Oxide in the Heart 3: VEGF, Hypoxia, and Angiogenesis |
KEGG Pathways: |
| Unique id : H000343_01
Name: Early growth response 3 |
Sum Func: The gene encodes a transcriptional regulator that belongs to the EGR family of C2H2-type zinc-finger proteins. It is an immediate-early growth response gene which is induced by mitogenic stimulation. The protein encoded by this gene participates in the transcriptional regulation of genes in controlling biological rhythm. It may also plays a role in muscle development. | SP Function: probable transcription factor involved in muscle spindle development. | Gene Ontology:
biological process: biological process: cellular component: biological process: molecular function: molecular function: |
BioCarta Pathways:
1: Neuropeptides VIP and PACAP inhibit the apoptosis of activated T cells |
KEGG Pathways: |
| Unique id : H001320_01
Name: GATA binding protein 4 |
Sum Func: This gene encodes a member of the GATA family of zinc-finger transcription factors. Members of this family recognize the GATA motif which is present in the promoters of many genes. This protein is thought to regulate genes involved in embryogenesis and in myocardial differentiation and function. Mutations in this gene have been associated with cardiac septal defects. | SP Function: transcriptional activator. binds to the consensus sequence 5′-agatag-3′. may regulate a set of cardiac-specific genes and play a crucial role in cardiogenesis. | Gene Ontology:
molecular function: molecular function: biological process: biological process: cellular component: cellular component: biological process: biological process: molecular function: biological process: biological process: molecular function: molecular function: biological process: molecular function: molecular function: |
BioCarta Pathways:
1: ALK in cardiac myocytes 2: Hop Pathway in Cardiac Development 3: NFAT and Hypertrophy of the heart (Transcription in the broken heart) |
KEGG Pathways: |
| Unique id : H002545_01
Name: CD69 antigen (p60, early T-cell activation antigen) |
Sum Func: | SP Function: involved in lymphocyte proliferation and functions as a signal transmitting receptor in lymphocytes, natural killer (nk) cells, and platelets. | Gene Ontology:
biological process: biological process: cellular component: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002710_01
Name: Interleukin 10 |
Sum Func: The protein encoded by this gene is a cytokine produced primarily by monocytes and to a lesser extent by lymphocytes. This cytokine has pleiotropic effects in immunoregulation and inflammation. It down-regulates the expression of Th1 cytokines, MHC class II Ags, and costimulatory molecules on macrophages. It also enhances B cell survival, proliferation, and antibody production. This cytokine can block NF-kappa B activity, and is involved in the regulation of the JAK-STAT signaling pathway. Knockout studies in mice suggested the function of this cytokine as an essential immunoregulator in the intestinal tract. | SP Function: inhibits the synthesis of a number of cytokines, including ifn-gamma, il-2, il-3, tnf and gm-csf produced by activated macrophages and by helper t cells. | Gene Ontology:
biological process: biological process: biological process: biological process: biological process: molecular function: biological process: cellular component: biological process: biological process: biological process: molecular function: biological process: biological process: biological process: biological process: biological process: biological process: |
BioCarta Pathways:
1: Antigen Dependent B Cell Activation 2: Cytokine Network 3: Dendritic cells in regulating TH1 and TH2 Development 4: IL-10 Anti-inflammatory Signaling Pathway 5: Cytokines and Inflammatory Response |
KEGG Pathways: |
| Unique id : H000398_01
Name: Protein (peptidyl-prolyl cis/trans isomerase) NIMA-interacting 1 |
Sum Func: | SP Function: essential ppiase that regulates mitosis presumably by interacting with nima and attenuating its mitosis-promoting activity. displays a preference for an acidic residue n-terminal to the isomerized proline bond. catalyzing pser/thr-pro cis/trans isomerizations. | Gene Ontology:
biological process: molecular function: cellular component: molecular function: molecular function: biological process: biological process: |
BioCarta Pathways:
1: How Progesterone Initiates the Oocyte Maturation |
KEGG Pathways: |
| Unique id : H001128_01
Name: Fc fragment of IgG, low affinity IIIb, receptor for (CD16) |
Sum Func: | SP Function: receptor for the fc region of igg. binds complexed or aggregated igg and also monomeric igg. mediates antibody-dependent cellular cytotoxicity (adcc) and other antibody-dependent responses, such as phagocytosis. | Gene Ontology:
molecular function: biological process: cellular component: cellular component: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H012917_01
Name: Calcium/calmodulin-dependent protein kinase (CaM kinase) II beta |
Sum Func: The product of this gene belongs to the serine/threonine protein kinase family and to the Ca(2+)/calmodulin-dependent protein kinase subfamily. Calcium signaling is crucial for several aspects of plasticity at glutamatergic synapses. In mammalian cells, the enzyme is composed of four different chains: alpha, beta, gamma, and delta. The product of this gene is a beta chain. It is possible that distinct isoforms of this chain have different cellular localizations and interact differently with calmodulin. Eight transcript variants encoding eight distinct isoforms have been identified for this gene. | SP Function: cam-kinase ii (camk2) is a prominent kinase in the central nervous system that may function in long-term potentiation and neurotransmitter release. | Gene Ontology:
molecular function: molecular function: molecular function: biological process: biological process: molecular function: molecular function: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H000372_01
Name: Early growth response 2 (Krox-20 homolog, Drosophila) |
Sum Func: The early growth response protein 2 is a transcription factor with three tandem C2H2-type zinc fingers. Mutations in this gene are associated with the autosomal dominant Charcot-Marie-Tooth disease, type 1. | SP Function: sequence-specific dna-binding transcription factor. binds to two specific dna sites located in the promoter region of hoxa4. | Gene Ontology:
molecular function: biological process: biological process: cellular component: biological process: biological process: molecular function: |
BioCarta Pathways:
1: Neuropeptides VIP and PACAP inhibit the apoptosis of activated T cells |
KEGG Pathways: |
| Unique id : H001957_01
Name: Interleukin 1, beta |
Sum Func: The protein encoded by this gene is a member of the interleukin 1 cytokine family. This cytokine is produced by activated macrophages as a proprotein, which is proteolytically processed to its active form by caspase 1 (CASP1/ICE). This cytokine is an important mediator of the inflammatory response, and is involved in a variety of cellular activities, including cell proliferation, differentiation, and apoptosis. The induction of cyclooxygenase-2 (PTGS2/COX2) by this cytokine in the central nervous system (CNS) is found to contribute to inflammatory pain hypersensitivity. This gene and eight other interleukin 1 family genes form a cytokine gene cluster on chromosome 2. | SP Function: produced by activated macrophages, il-1 stimulates thymocyte proliferation by inducing il-2 release, b-cell maturation and proliferation, and fibroblast growth factor activity. il-1 proteins are involved in the inflammatory response, being identified as endogenous pyrogens, and are reported to stimulate the release of prostaglandin and collagenase from synovial cells. | Gene Ontology:
biological process: biological process: biological process: biological process: cellular component: biological process: biological process: molecular function: biological process: biological process: molecular function: biological process: |
BioCarta Pathways:
1: Signal transduction through IL1R 2: IL 5 Signaling Pathway 3: Msp/Ron Receptor Signaling Pathway 4: NFkB activation by Nontypeable Hemophilus influenzae |
KEGG Pathways: |
| Unique id : H002104_01
Name: Nucleoporin 214kDa |
Sum Func: The nuclear pore complex is a massive structure that extends across the nuclear envelope, forming a gateway that regulates the flow of macromolecules between the nucleus and the cytoplasm. Nucleoporins are the main components of the nuclear pore complex in eukaryotic cells. This gene is a member of the FG-repeat-containing nucleoporins. The protein encoded by this gene is localized to the cytoplasmic face of the nuclear pore complex where it is required for proper cell cycle progression and nucleocytoplasmic transport. The 3′ portion of this gene forms a fusion gene with the DEK gene on chromosome 6 in a t(6,9) translocation associated with acute myeloid leukemia and myelodysplastic syndrome. | SP Function: may serve as a docking site in the receptor-mediated import of substrates across the nuclear pore complex. | Gene Ontology:
cellular component: cellular component: cellular component: biological process: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H007966_01
Name: FK506 binding protein 1B, 12.6 kDa |
Sum Func: The protein encoded by this gene is a member of the immunophilin protein family, which play a role in immunoregulation and basic cellular processes involving protein folding and trafficking. This encoded protein is a cis-trans prolyl isomerase that binds the immunosuppressants FK506 and rapamycin. It is highly similar to the FK506-binding protein 1A. Its physiological role is thought to be in excitation-contraction coupling in cardiac muscle. There are two alternatively spliced transcript variants of this gene encoding different isoforms. | SP Function: | Gene Ontology:
biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H006762_01
Name: Transient receptor potential cation channel, subfamily V, member 6 |
Sum Func: | SP Function: | Gene Ontology:
molecular function: molecular function: biological process: molecular function: molecular function: biological process: cellular component: cellular component: molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003153_01
Name: Interleukin 3 (colony-stimulating factor, multiple) |
Sum Func: The protein encoded by this gene is a potent growth promoting cytokine. This cytokine is capable of supporting the proliferation of a broad range of hematopoietic cell types. It is involved in a variety of cell activities such as cell growth, differentiation and apoptosis. This cytokine has been shown to also possess neurotrophic activity, and it may be associated with neurologic disorders. | SP Function: this csf induces granulocytes, macrophages, mast cells, stem cells, erythroid cells, eosinophils and megakaryocytes. | Gene Ontology:
biological process: molecular function: cellular component: biological process: molecular function: biological process: biological process: |
BioCarta Pathways:
1: Regulation of BAD phosphorylation 2: Cytokine Network 3: Dendritic cells in regulating TH1 and TH2 Development 4: The Role of Eosinophils in the Chemokine Network of Allergy 5: Erythrocyte Differentiation Pathway 6: IL 17 Signaling Pathway 7: IL 3 signaling pathway 8: Cytokines and Inflammatory Response 9: Regulation of hematopoiesis by cytokines |
KEGG Pathways: |
| Unique id : H003043_01
Name: Tumor necrosis factor (ligand) superfamily, member 5 (hyper-IgM syndrome) |
Sum Func: The protein encoded by this gene is expressed on the surface of T cells. It regulates B cell function by engaging CD40 on the B cell surface. A defect in this gene results in an inability to undergo immunoglobulin class switch and is associated with hyper-IgM syndrome. | SP Function: mediates b-cell proliferation in the absence of co- stimulus as well as ige production in the presence of il-4. involved in immunoglobulin class switching. | Gene Ontology:
biological process: molecular function: biological process: biological process: biological process: cellular component: biological process: biological process: biological process: biological process: cellular component: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H011554_01
Name: Vav 3 oncogene |
Sum Func: VAV3, a third representative of the Vav family, participates in signal transduction processes. It is also involved in the activation of several members of the Rho family. This activity, when deregulated, leads to marked cytoskeletal changes and to alterations in the process of cell division. | SP Function: | Gene Ontology:
molecular function: molecular function: molecular function: molecular function: biological process: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H011889_01
Name: Glucocorticoid receptor DNA binding factor 1 |
Sum Func: The human glucocorticoid receptor DNA binding factor, which associates with the promoter region of the glucocorticoid receptor gene (hGR gene), is a repressor of glucocorticoid receptor transcription. The amino acid sequence deduced from the cDNA sequences show the presence of three sequence motifs characteristic of a zinc finger and one motif suggestive of a leucine zipper in which 1 cysteine is found instead of all leucines. The GRLF1 enhances the homologous down-regulation of wild-type hGR gene expression. Biochemical analysis suggests that GRLF1 interaction is sequence specific and that transcriptional efficacy of GRLF1 is regulated through its interaction with specific sequence motif. The level of expression is regulated by glucocorticoids. Two transcript variants encoding different isoforms have been found for this gene. | SP Function: | Gene Ontology:
molecular function: molecular function: molecular function: biological process: biological process: cellular component: biological process: biological process: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H012455_01
Name: Exportin 5 |
Sum Func: Exportin-5 belongs to a large family of karyopherins (see MIM 602738) that mediate the transport of proteins and other cargo between the nuclear and cytoplasmic compartments.[supplied by OMIM] | SP Function: | Gene Ontology: | BioCarta Pathways: | KEGG Pathways: |
| Unique id : H000247_01
Name: Sp3 transcription factor |
Sum Func: | SP Function: binds to gt and gc boxes promoters elements. probable transcriptional activator. | Gene Ontology:
molecular function: cellular component: biological process: molecular function: molecular function: molecular function: |
BioCarta Pathways:
1: Effects of calcineurin in Keratinocyte Differentiation 2: Overview of telomerase RNA component gene hTerc Transcriptional Regulation 3: Overview of telomerase protein component gene hTert Transcriptional Regulation |
KEGG Pathways: |
| Unique id : H010817_01
Name: Heart and neural crest derivatives expressed 2 |
Sum Func: The protein encoded by this gene belongs to the basic helix-loop-helix family of transcription factors. This gene product is one of two closely related family members, the HAND proteins, which are asymmetrically expressed in the developing ventricular chambers and play an essential role in cardiac morphogenesis. Working in a complementary fashion, they function in the formation of the right ventricle and aortic arch arteries, implicating them as mediators of congenital heart disease. In addition, this transcription factor plays an important role in limb and branchial arch development. | SP Function: | Gene Ontology:
molecular function: biological process: biological process: cellular component: biological process: |
BioCarta Pathways:
1: NFAT and Hypertrophy of the heart (Transcription in the broken heart) |
KEGG Pathways: |
| Unique id : H002145_01
Name: FK506 binding protein 1A, 12kDa |
Sum Func: The protein encoded by this gene is a member of the immunophilin protein family, which play a role in immunoregulation and basic cellular processes involving protein folding and trafficking. This encoded protein is a cis-trans prolyl isomerase that binds the immunosuppressants FK506 and rapamycin. It interacts with several intracellular signal transduction proteins including type I TGF-beta receptor. It also interacts with multiple intracellular calcium release channels including the tetrameric skeletal muscle ryanodine receptor. In mouse, deletion of this homologous gene causes congenital heart disorder known as noncompaction of left ventricular myocardium. There is evidence of multiple alternatively spliced transcript variants for this gene, but the full length nature of some variants has not been determined. | SP Function: | Gene Ontology:
molecular function: molecular function: biological process: |
BioCarta Pathways:
1: mTOR Signaling Pathway 2: NFAT and Hypertrophy of the heart (Transcription in the broken heart) |
KEGG Pathways: |
| Unique id : H002194_01
Name: Casein kinase 1, alpha 1 |
Sum Func: | SP Function: casein kinases are operationally defined by their preferential utilization of acidic proteins such as caseins as substrates. it can phosphorylate a large number of proteins. participates in wnt signaling. phosphorylates ctnnb1 on ser-45. | Gene Ontology:
molecular function: biological process: molecular function: biological process: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H012897_01
Name: Myosin, heavy polypeptide 2, skeletal muscle, adult |
Sum Func: | SP Function: | Gene Ontology:
molecular function: molecular function: molecular function: molecular function: biological process: cellular component: cellular component: biological process: cellular component: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H014455_01
Name: Calreticulin |
Sum Func: Calreticulin is a multifunctional protein that acts as a major Ca(2+)-binding (storage) protein in the lumen of the endoplasmic reticulum. It is also found in the nucleus, suggesting that it may have a role in transcription regulation. Calreticulin binds to the synthetic peptide KLGFFKR, which is almost identical to an amino acid sequence in the DNA-binding domain of the superfamily of nuclear receptors. Calreticulin binds to antibodies in certain sera of systemic lupus and Sjogren patients which contain anti-Ro/SSA antibodies, it is highly conserved among species, and it is located in the endoplasmic and sarcoplasmic reticulum where it may bind calcium. The amino terminus of calreticulin interacts with the DNA-binding domain of the glucocorticoid receptor and prevents the receptor from binding to its specific glucocorticoid response element. Calreticulin can inhibit the binding of androgen receptor to its hormone-responsive DNA element and can inhibit androgen receptor and retinoic acid receptor transcriptional activities in vivo, as well as retinoic acid-induced neuronal differentiation. Thus, calreticulin can act as an important modulator of the regulation of gene transcription by nuclear hormone receptors. Systemic lupus erythematosus is associated with increased autoantibody titers against calreticulin but calreticulin is not a Ro/SS-A antigen. Earlier papers referred to calreticulin as an Ro/SS-A antigen but this was later disproven. Increased autoantibody titer against human calreticulin is found in infants with complete congenital heart block of both the IgG and IgM classes. | SP Function: molecular calcium binding chaperone promoting folding, oligomeric assembly and quality control in the er via the calreticulin/calnexin cycle. this lectin interacts transiently with almost all of the monoglucosylated glycoproteins that are synthesized in the er. interacts with the dna-binding domain of nr3c1 and mediates its nuclear export. | Gene Ontology:
molecular function: cellular component: cellular component: biological process: biological process: molecular function: molecular function: molecular function: |
BioCarta Pathways:
1: NFAT and Hypertrophy of the heart (Transcription in the broken heart) |
KEGG Pathways: |
| Unique id : H003511_01
Name: Leukemia inhibitory factor (cholinergic differentiation factor) |
Sum Func: Leukaemia inhibitory factor is a cytokine that induces macrophage differentiation. Neurotransmitters and neuropeptides, well known for their role in the communication between neurons, are also capable of activating monocytes and macrophages and inducing chemotaxis in immune cells. LIF signals through different receptors and transcription factors. LIF in conjunction with BMP2 acts in synergy on primary fetal neural progenitor cells to induce astrocytes. | SP Function: lif has the capacity to induce terminal differentiation in leukemic cells. its activities include the induction of hematopoietic differentiation in normal and myeloid leukemia cells, the induction of neuronal cell differentiation, and the stimulation of acute-phase protein synthesis in hepatocytes. | Gene Ontology:
biological process: biological process: molecular function: biological process: cellular component: molecular function: biological process: molecular function: molecular function: biological process: |
BioCarta Pathways:
1: NFAT and Hypertrophy of the heart (Transcription in the broken heart) |
KEGG Pathways: |
| Unique id : H013229_01
Name: NK2 transcription factor related, locus 5 (Drosophila) |
Sum Func: Homeobox-containing genes play critical roles in regulating tissue-specific gene expression essential for tissue differentiation, as well as determining the temporal and spatial patterns of development (Shiojima et al., 1995 [PubMed 7665173]). It has been demonstrated that a Drosophila homeobox-containing gene called ‘tinman’ is expressed in the developing dorsal vessel and in the equivalent of the vertebrate heart. Mutations in tinman result in loss of heart formation in the embryo, suggesting that tinman is essential for Drosophila heart formation. Furthermore, abundant expression of Csx, the presumptive mouse homolog of tinman, is observed only in the heart from the time of cardiac differentiation. CSX, the human homolog of murine Csx, has a homeodomain sequence identical to that of Csx and is expressed only in the heart, again suggesting that CSX plays an important role in human heart formation.[supplied by OMIM] | SP Function: implicated in commitment to and/or differentiation of the myocardial lineage (by similarity). | Gene Ontology:
biological process: biological process: biological process: cellular component: molecular function: molecular function: cellular component: molecular function: |
BioCarta Pathways:
1: ALK in cardiac myocytes |
KEGG Pathways: |
| Unique id : H002427_01
Name: Calcium/calmodulin-dependent protein kinase I |
Sum Func: Calcium/calmodulin-dependent protein kinase I is expressed in many tissues and is a component of a calmodulin-dependent protein kinase cascade. Calcium/calmodulin directly activates calcium/calmodulin-dependent protein kinase I by binding to the enzyme and indirectly promotes the phosphorylation and synergistic activation of the enzyme by calcium/calmodulin-dependent protein kinase I kinase. | SP Function: calcium/calmodulin-dependent protein kinase belonging to a proposed calcium-triggered signaling cascade involved in a number of cellular processes like transcriptional regulation, hormone production, translational regulation, regulation of actin filament organization and neurite outgrowth. involved in calcium- dependent activation of the erk pathway (by similarity). recognizes the substrate consensus sequence [mvlif]-x-r-x(2)-[st]- x(3)-[mvlif]. phosphorylates eif4g3/eif4gii. in vitro phosphorylates creb1, atf1, ctfr, myl9, syn1/synapsin i and synii/synapsin ii (by similarity). | Gene Ontology:
molecular function: molecular function: molecular function: biological process: molecular function: biological process: molecular function: |
BioCarta Pathways:
1: Angiotensin II mediated activation of JNK Pathway via Pyk2 dependent signaling 2: Ca++/ Calmodulin-dependent Protein Kinase Activation 3: Pertussis toxin-insensitive CCR5 Signaling in Macrophage 4: Signal Dependent Regulation of Myogenesis by Corepressor MITR 5: BCR Signaling Pathway 6: Bioactive Peptide Induced Signaling Pathway 7: Effects of calcineurin in Keratinocyte Differentiation 8: fMLP induced chemokine gene expression in HMC-1 cells 9: Fc Epsilon Receptor I Signaling in Mast Cells 10: Corticosteroids and cardioprotection 11: Signaling Pathway from G-Protein Families 12: Control of skeletal myogenesis by HDAC & calcium/calmodulin-dependent kinase (CaMK) 13: Role of MEF2D in T-cell Apoptosis 14: Endocytotic role of NDK, Phosphins and Dynamin 15: NFAT and Hypertrophy of the heart (Transcription in the broken heart) 16: Actions of Nitric Oxide in the Heart 17: Nitric Oxide Signaling Pathway 18: Regulation of PGC-1a 19: Links between Pyk2 and Map Kinases 20: T Cell Receptor Signaling Pathway 21: Neuropeptides VIP and PACAP inhibit the apoptosis of activated T cells |
KEGG Pathways: |
| Unique id : H010996_01
Name: Heart and neural crest derivatives expressed 1 |
Sum Func: The protein encoded by this gene belongs to the basic helix-loop-helix family of transcription factors. This gene product is one of two closely related family members, the HAND proteins, which are asymmetrically expressed in the developing ventricular chambers and play an essential role in cardiac morphogenesis. Working in a complementary fashion, they function in the formation of the right ventricle and aortic arch arteries, implicating them as mediators of congenital heart disease. In addition, it has been suggested that this transcription factor may be required for early trophoblast differentiation. | SP Function: plays an essential role in early trophoblast differentiation and in cardiac morphogenesis. in the adult, could be required for ongoing expression of cardiac-specific genes. binds the dna sequence 5′-nrtctg-3′ (noncanonical e-box) (by similarity). | Gene Ontology:
biological process: biological process: cellular component: biological process: molecular function: biological process: |
BioCarta Pathways:
1: NFAT and Hypertrophy of the heart (Transcription in the broken heart) |
KEGG Pathways: |
| Unique id : H003501_01
Name: Colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage) |
Sum Func: CSF2RB is a common beta chain of the high affinity receptor for IL-3, IL-5 and CSF. Defective CSF2RB has been reported to be associated with protein alveolar proteinosis | SP Function: high affinity receptor for interleukin-3, interleukin-5 and granulocyte-macrophage colony-stimulating factor. | Gene Ontology:
biological process: biological process: cellular component: molecular function: molecular function: molecular function: biological process: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H000375_01
Name: ELK4, ETS-domain protein (SRF accessory protein 1) Chromosome: 1 |
Sum Func: This gene is a member of the Ets family of transcription factors and of the ternary complex factor (TCF) subfamily. Proteins of the TCF subfamily form a ternary complex by binding to the the serum response factor and the serum response element in the promoter of the c-fos proto-oncogene. The protein encoded by this gene is phosphorylated by the kinases, MAPK1 and MAPK8. Several transcript variants have been described for this gene. | SP Function: forms a ternary complex with the serum response factor (srf). requires dna-bound srf for ternary complex formation and makes extensive dna contacts to the 5’side of srf, but does not bind dna autonomously. | Gene Ontology:
cellular component: molecular function: biological process: molecular function: molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003463_01
Name: Spleen focus forming virus (SFFV) proviral integration oncogene spi1 |
Sum Func: | SP Function: binds to the pu-box, a purine-rich dna sequence (5′- gaggaa-3′) that can act as a lymphoid-specific enhancer. this protein is a transcriptional activator that may be specifically involved in the differentiation or activation of macrophages or b- cells. | Gene Ontology:
biological process: biological process: cellular component: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H001284_01
Name: Myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) |
Sum Func: | SP Function: possibly acts as a transcriptional regulatory factor. | Gene Ontology:
molecular function: biological process: cellular component: biological process: molecular function: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H000370_01
Name: Transcription factor binding to IGHM enhancer 3 |
Sum Func: | SP Function: positive-acting transcription factor that binds to the immunoglobulin enhancer mue3 motif. it binds also very well to a usf/mltf site. binding of tfe3 to dna induces dna binding. | Gene Ontology:
molecular function: molecular function: biological process: cellular component: biological process: biological process: molecular function: molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H001315_01
Name: Runt-related transcription factor 1 (acute myeloid leukemia 1; aml1 oncogene) |
Sum Func: Core binding factor (CBF) is a heterodimeric transcription factor that binds to the core element of many enhancers and promoters. The protein encoded by this gene represents the alpha subunit of CBF and is thought to be involved in the development of normal hematopoiesis. Chromosomal translocations involving this gene are well-documented and have been associated with several types of leukemia. Two transcript variants encoding different isoforms have been found for this gene. | SP Function: cbf binds to the core site, 5′-pygpyggt-3′, of a number of enhancers and promoters, including murine leukemia virus, polyomavirus enhancer, t-cell receptor enhancers, lck, il-3 and gm-csf promoters. the alpha subunit binds dna and appears to have a role in the development of normal hematopoiesis. isoform aml-1l interferes with the transactivation activity of aml1. | Gene Ontology:
molecular function: biological process: biological process: cellular component: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H014573_01
Name: Bromodomain containing 4 |
Sum Func: The protein encoded by this gene is homologous to the murine protein MCAP, which associates with chromosomes during mitosis, and to the human RING3 protein, a serine/threonine kinase. Each of these proteins contains two bromodomains, a conserved sequence motif which may be involved in chromatin targeting. This gene has been implicated as the chromosome 19 target of translocation t(15;19)(q13;p13.1), which defines an upper respiratory tract carcinoma in young people. Two alternatively spliced transcript variants have been described. | SP Function: plays a role in a process governing chromosomal dynamics during mitosis (by similarity). | Gene Ontology:
cellular component: |
BioCarta Pathways:
1: How Progesterone Initiates the Oocyte Maturation |
KEGG Pathways: |
| Unique id : H000716_01
Name: Nuclear receptor coactivator 3 |
Sum Func: The protein encoded by this gene is a nuclear receptor coactivator that interacts with nuclear hormone receptors to enhance their transcriptional activator functions. The encoded protein has histone acetyltransferase activity and recruits p300/CBP-associated factor and CREB binding protein as part of a multisubunit coactivation complex. This protein is initially found in the cytoplasm but is translocated into the nucleus upon phosphorylation. Two transcript variants encoding different isoforms have been found for this gene. In addition, a polymorphic repeat region is found in the C-terminus of the encoded protein. | SP Function: nuclear receptor coactivator that directly binds nuclear receptors and stimulates the transcriptional activities in a hormone-dependent fashion. plays a central role in creating a multisubunit coactivator complex, which probably acts via remodeling of chromatin. involved in the coactivation of different nuclear receptors, such as for steroids (gr and er), retinoids (rars and rxrs), thyroid hormone (trs), vitamin d3 (vdr) and prostanoids (ppars). displays histone acetyltransferase activity. also involved in the coactivation of the nf-kappa-b pathway via its interaction with the nfkb1 subunit. | Gene Ontology:
molecular function: molecular function: cellular component: biological process: molecular function: biological process: molecular function: biological process: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H001476_01
Name: Polyamine-modulated factor 1 |
Sum Func: | SP Function: | Gene Ontology: | BioCarta Pathways: | KEGG Pathways: |
| Unique id : H000318_01
Name: Ring finger protein 4 |
Sum Func: The protein encoded by this gene contains a RING finger motif and acts as a transcription regulator. This protein has been shown to interact with, and inhibit the activity of, TRPS1, a transcription suppressor of GATA-mediated transcription. Transcription repressor ZNF278/PATZ is found to interact with this protein, and thus reduce the enhancement of androgen receptor-dependent transcription mediated by this protein. Studies of the mouse and rat counterparts suggested a role of this protein in spermatogenesis. | SP Function: enhances steroid receptor-mediated transcriptional activation as well as activating basal transcription (by similarity). | Gene Ontology:
cellular component: biological process: biological process: molecular function: molecular function: cellular component: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H009444_01
Name: GTF2I repeat domain containing 1 |
Sum Func: The protein encoded by this gene contains five GTF2I-like repeats and each repeat possesses a potential helix-loop-helix (HLH) motif. It may have the ability to interact with other HLH-proteins and function as a transcription factor or as a positive transcriptional regulator under the control of Retinoblastoma protein. This gene is deleted in Williams-Beuren syndrome, a multisystem developmental disorder caused by deletion of multiple genes at 7q11.23. Alternative splicing of this gene generates at least 2 transcript variants. | SP Function: | Gene Ontology:
molecular function: biological process: cellular component: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H001313_01
Name: Hematopoietically expressed homeobox |
Sum Func: This gene encodes a member of the homeobox family of transcription factors, many of which are involved in developmental processes. Expression in specific hematopoietic lineages suggests that this protein may play a role in hematopoietic differentiation. A second transcript variant has been described, but its full length nature has not been determined. | SP Function: recognizes the dna sequence 5′-attaa-3′. may play a role in hematopoietic differentiation. | Gene Ontology:
biological process: biological process: cellular component: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H006426_01
Name: Transcriptional regulator protein |
Sum Func: | SP Function: | Gene Ontology: | BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003249_01
Name: V-ets erythroblastosis virus E26 oncogene homolog 1 (avian) |
Sum Func: | SP Function: transcription factor. | Gene Ontology:
molecular function: biological process: biological process: biological process: cellular component: biological process: molecular function: biological process: |
BioCarta Pathways:
1: METS affect on Macrophage Differentiation 2: Keratinocyte Differentiation |
KEGG Pathways: |
| Unique id : H014806_01
Name: DNA (cytosine-5-)-methyltransferase 3 alpha |
Sum Func: CpG methylation is an epigenetic modification that is important for embryonic development, imprinting, and X-chromosome inactivation. Studies in mice have demonstrated that DNA methylation is required for mammalian development. This gene encodes a DNA methyltransferase that is thought to function in de novo methylation, rather than maintenance methylation. The protein localizes to the cytoplasm and nucleus and its expression is developmentally regulated. Alternative splicing results in multiple transcript variants encoding different isoforms. | SP Function: required for genome wide de novo methylation and is essential for development. | Gene Ontology:
molecular function: molecular function: molecular function: molecular function: biological process: biological process: cellular component: cellular component: cellular component: cellular component: biological process: biological process: molecular function: cellular component: cellular component: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H000147_01
Name: TGFB-induced factor (TALE family homeobox) |
Sum Func: The protein encoded by this gene is a member of the three-amino acid loop extension (TALE) superclass of atypical homeodomains. TALE homeobox proteins are highly conserved transcription regulators. This particular homeodomain binds to a previously characterized retinoid X receptor responsive element from the cellular retinol-binding protein II promoter. In addition to its role in inhibiting 9-cis-retinoic acid-dependent RXR alpha transcription activation of the retinoic acid responsive element, the protein is an active transcriptional co-repressor of SMAD2 and may participate in the transmission of nuclear signals during development and in the adult. Mutations in this gene are associated with holoprosencephaly type 4, which is a structural anomaly of the brain. Alternative splicing has been observed at this locus and eight variants, encoding four distinct isoforms, are described. | SP Function: binds to a retinoid x receptor (rxr) responsive element from the cellular retinol-binding protein ii promoter (crbpii- rxre). inhibits the 9-cis-retinoic acid-dependent rxr alpha transcription activation of the retinoic acid responsive element. active transcriptional corepressor of smad2. links the nodal signaling pathway to the bifurcation of the forebrain and the establishment of ventral midline structures. may participate in the transmission of nuclear signals during development and in the adult, as illustrated by the down-modulation of the rxr alpha activities. | Gene Ontology:
biological process: biological process: cellular component: cellular component: biological process: molecular function: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H004003_01
Name: FBJ murine osteosarcoma viral oncogene homolog B |
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: fosb interacts with jun proteins enhancing their dna binding activity. | Gene Ontology:
molecular function: biological process: biological process: biological process: cellular component: biological process: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H009897_01
Name: Ring finger protein 14 |
Sum Func: The protein encoded by this gene contains a RING zinc finger, a motif known to be involved in protein-protein interactions. This protein interacts with androgen receptor (AR) and may function as a coactivator that induces AR target gene expression in prostate. A dominant negative mutant of this gene has been demonstrated to inhibit the AR-mediated growth of prostate cancer. This protein also interacts with class III ubiquitin-conjugating enzymes (E2s) and may act as a ubiquitin-ligase (E3) in the ubiquitination of certain nuclear proteins. Five alternatively spliced transcript variants encoding two distinct isoforms have been reported. | SP Function: | Gene Ontology:
biological process: cellular component: biological process: molecular function: molecular function: cellular component: molecular function: biological process: biological process: biological process: molecular function: cellular component: molecular function: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H007149_01
Name: SRY (sex determining region Y)-box 13 |
Sum Func: This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins. It has also been determined to be a type-1 diabetes autoantigen, also known as islet cell antibody 12. | SP Function: | Gene Ontology:
biological process: cellular component: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H009485_01
Name: MYST histone acetyltransferase (monocytic leukemia) 3 |
Sum Func: | SP Function: | Gene Ontology:
molecular function: biological process: biological process: cellular component: biological process: cellular component: biological process: biological process: cellular component: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H005858_01
Name: GLI-Kruppel family member HKR3 |
Sum Func: | SP Function: binds to and regulates the j and/or s elements in mhc ii promoter. | Gene Ontology:
cellular component: molecular function: biological process: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003529_01
Name: ELK3, ETS-domain protein (SRF accessory protein 2) |
Sum Func: The protein encoded by this gene is a member of the ETS-domain transcription factor family and the ternary complex factor (TCF) subfamily. Proteins in this subfamily regulate transcription when recruited by serum response factor to bind to serum response elements. This protein is activated by signal-induced phosphorylation; studies in rodents suggest that it is a transcriptional inhibitor in the absence of Ras, but activates transcription when Ras is present. | SP Function: may be a negative regulator of transcription, but can activate transcription when coexpressed with ras, src or mos. forms a ternary complex with the serum response factor and the ets and srf motifs of the fos serum response element. | Gene Ontology:
molecular function: cellular component: biological process: biological process: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002830_01
Name: Spi-B transcription factor (Spi-1/PU.1 related) |
Sum Func: SPI1 (MIM 165170) and SPIB are members of a subfamily of ETS (see ETS1; MIM 164720) transcription factors. ETS proteins share a conserved ETS domain that mediates specific DNA binding. SPIB and SPI1 bind to a purine-rich sequence, the PU box (5-prime-GAGGAA-3-prime).[supplied by OMIM] | SP Function: binds to the pu-box, a purine-rich dna sequence (5′- gaggaa-3′) that can act as a lymphoid-specific enhancer. might affect spi-b function by recruiting factors involved in spi-b activity. | Gene Ontology:
molecular function: cellular component: cellular component: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H006672_01
Name: Regulatory factor X-associated ankyrin containing protein |
Sum Func: Major histocompatibility (MHC) class II molecules are transmembrane proteins that have a central role in development and control of the immune system. The protein encoded by this gene, along with regulatory factor X-associated protein and regulatory factor-5, forms a complex that binds to the X box motif of certain MHC class II gene promoters and activates their transcription. Once bound to the promoter, this complex associates with the non-DNA-binding factor MHC class II transactivator, which controls the cell type specificity and inducibility of MHC class II gene expression. This protein contains ankyrin repeats involved in protein-protein interactions. Mutations in this gene have been linked to bare lymphocyte syndrome type II, complementation group B. Two transcript variants encoding different isoforms have been described for this gene, with only one isoform showing activation activity. | SP Function: activates transcription from class ii mhc promoters. activation requires the activity of the mhc class ii transactivator (mhc2ta). may regulate other genes in the cell. rfx binds the x1 box of mhc-ii promoters. isoform rfx-b-delta5 is not involved in the positive regulation of mhc class ii genes. | Gene Ontology:
biological process: cellular component: biological process: molecular function: molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H013862_01
Name: Prospero-related homeobox 1 |
Sum Func: | SP Function: may play a fundamental role in early development of cns. may regulate gene expression and development of postmitotic undifferentiated young neurons (by similarity). | Gene Ontology: | BioCarta Pathways: | KEGG Pathways: |
| Unique id : H000780_01
Name: Nuclear receptor subfamily 1, group H, member 3 |
Sum Func: | SP Function: orphan receptor. interaction with rxr shifts rxr from its role as a silent dna-binding partner to an active ligand- binding subunit in mediating retinoid responses through target genes defined by lxres. lxres are dr4-type response elements characterized by direct repeats of two similar hexanucleotide half- sites spaced by four nucleotides. plays an important role in the regulation of cholesterol homeostasis. | Gene Ontology:
cellular component: biological process: molecular function: molecular function: molecular function: molecular function: |
BioCarta Pathways:
1: FXR and LXR Regulation of Cholesterol Metabolism 2: Nuclear Receptors in Lipid Metabolism and Toxicity 3: Mechanism of Gene Regulation by Peroxisome Proliferators via PPARa(alpha) |
KEGG Pathways: |
| Unique id : H010945_01
Name: Bromodomain adjacent to zinc finger domain, 1B |
Sum Func: This gene encodes a member of the bromodomain protein family. The bromodomain is a structural motif characteristic of proteins involved in chromatin-dependent regulation of transcription. This gene is deleted in Williams-Beuren syndrome, a developmental disorder caused by deletion of multiple genes at 7q11.23. Alternative splicing of this gene generates at least 2 transcript variants. | SP Function: | Gene Ontology:
molecular function: cellular component: biological process: biological process: biological process: molecular function: cellular component: molecular function: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H011149_01
Name: Ring-box 1 |
Sum Func: This gene encodes an evolutionarily conserved protein that interacts with cullins. The protein plays a unique role in the ubiquitination reaction by heterodimerizing with cullin-1 to catalyze ubiquitin polymerization. It also may be involved in the regulation of protein turn-over. | SP Function: | Gene Ontology:
cellular component: biological process: cellular component: molecular function: molecular function: |
BioCarta Pathways:
1: ER–associated degradation (ERAD) Pathway 2: Regulation of p27 Phosphorylation during Cell Cycle Progression |
KEGG Pathways: |
| Unique id : H009346_01
Name: Runt-related transcription factor 1 (acute myeloid leukemia 1; aml1 oncogene) |
Sum Func: Core binding factor (CBF) is a heterodimeric transcription factor that binds to the core element of many enhancers and promoters. The protein encoded by this gene represents the alpha subunit of CBF and is thought to be involved in the development of normal hematopoiesis. Chromosomal translocations involving this gene are well-documented and have been associated with several types of leukemia. Two transcript variants encoding different isoforms have been found for this gene. | SP Function: cbf binds to the core site, 5′-pygpyggt-3′, of a number of enhancers and promoters, including murine leukemia virus, polyomavirus enhancer, t-cell receptor enhancers, lck, il-3 and gm-csf promoters. the alpha subunit binds dna and appears to have a role in the development of normal hematopoiesis. isoform aml-1l interferes with the transactivation activity of aml1. | Gene Ontology:
molecular function: biological process: biological process: cellular component: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H005868_01
Name: Speckle-type POZ protein |
Sum Func: This gene encodes a protein that may modulate the transcriptional repression activities of death-associated protein 6 (DAXX), which interacts with histone deacetylase, core histones, and other histone-associated proteins. In mouse, the encoded protein binds to the putative leucine zipper domain of macroH2A1.2, a variant H2A histone that is enriched on inactivated X chromosomes. The BTB/POZ domain of this protein has been shown in other proteins to mediate transcriptional repression and to interact with components of histone deacetylase co-repressor complexes. Alternative splicing of this gene results in multiple transcript variants encoding the same protein. | SP Function: inhibits ipf1/pdx1 transactivation of established target promoters, such as insulin, may be by recruiting a repressor complex (by similarity). | Gene Ontology:
biological process: cellular component: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H004156_01
Name: Sirtuin (silent mating type information regulation 2 homolog) 2 (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. Two transcript variants result from alternative splicing of this gene. | SP Function: | Gene Ontology:
molecular function: biological process: biological process: cellular component: cellular component: molecular function: biological process: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H016647_01
Name: Nuclear receptor binding SET domain protein 1 |
Sum Func: This gene encodes a protein containing a SET domain, 2 LXXLL motifs, 3 nuclear translocation signals (NLSs), 4 plant homeodomain (PHD) finger regions, and a proline-rich region. The encoded protein enhances androgen receptor (AR) transactivation, and this enhancement can be increased further in the presence of other androgen receptor associated coregulators. This protein may act as a nucleus-localized, basic transcriptional factor and also as a bifunctional transcriptional regulator. Mutations of this gene have been associated with Sotos syndrome and Weaver syndrome. One version of childhood acute myeloid leukemia is the result of a cryptic translocation with the breakpoints occurring within nuclear receptor-binding Su-var, enhancer of zeste, and trithorac domain protein 1 on chromosome 5 and nucleoporin, 98-kd on chromosome 11. Two transcript variants encoding distinct isoforms have been identified for this gene. | SP Function: | Gene Ontology:
molecular function: biological process: cellular component: biological process: biological process: cellular component: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H000060_01
Name: Polyglutamine binding protein 1 |
Sum Func: PQBP1 is a nuclear polyglutamine-binding protein that contains a WW domain.[supplied by OMIM] | SP Function: | Gene Ontology:
molecular function: cellular component: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H007065_01
Name: Growth factor independent 1 |
Sum Func: | SP Function: may be a transcription factor involved in regulating the expression of genes active in the s phase during cell cycle progression in t cells. may be involved in tumor progression (by similarity). represses ela2 transcription. | Gene Ontology:
molecular function: biological process: molecular function: cellular component: biological process: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H000647_01
Name: E74-like factor 1 (ets domain transcription factor) |
Sum Func: | SP Function: transcription factor that appears to be required for the t-cell-receptor-mediated trans activation of hiv-2 gene expression. binds specifically to two purine-rich motifs in the hiv-2 enhancer. elf-1 binds to the underphosphorylated form of rb. may interact with other transcription factors in order to regulate specific genes. | Gene Ontology:
cellular component: cellular component: biological process: biological process: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H000083_01
Name: H2A histone family, member Z |
Sum Func: Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene encodes a replication-independent member of the histone H2A family that is distinct from other members of the family. Studies in mice have shown that this particular histone is required for embryonic development and indicate that lack of functional histone H2A leads to embryonic lethality. | SP Function: variant histones h2a are synthesized throughout the cell cycle and are very different from classical s-phase regulated h2a. the exact function of variant histones h2a is not known. | Gene Ontology:
molecular function: cellular component: biological process: cellular component: biological process: cellular component: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H015533_01
Name: Zinc finger protein 435 |
Sum Func: | SP Function: | Gene Ontology:
cellular component: biological process: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H009837_01
Name: SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1 |
Sum Func: The protein encoded by this gene is a member of the SWI/SNF family of proteins, whose members display helicase and ATPase activities and which are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI and has sequence similarity to the yeast Swp73 protein. Two transcript variants encoding different isoforms have been found for this gene. | SP Function: | Gene Ontology:
biological process: biological process: cellular component: molecular function: cellular component: |
BioCarta Pathways:
1: Chromatin Remodeling by hSWI/SNF ATP-dependent Complexes 2: Control of Gene Expression by Vitamin D Receptor |
KEGG Pathways: |
| Unique id : H000657_01
Name: Myeloid differentiation primary response gene (88) |
Sum Func: | SP Function: adapter protein involved in the toll-like receptor and il-1 receptor signaling pathway in the innate immune response. acts via irak1, irak2 and traf6, leading to nf-kappa-b activation, cytokine secretion and the inflammatory response. increases il-8 transcription. may be involved in myeloid differentiation. | Gene Ontology:
biological process: molecular function: biological process: biological process: cellular component: biological process: molecular function: molecular function: molecular function: |
BioCarta Pathways:
1: Inactivation of Gsk3 by AKT causes accumulation of b-catenin in Alveolar Macrophages 2: Signal transduction through IL1R 3: NF-kB Signaling Pathway 4: NFkB activation by Nontypeable Hemophilus influenzae 5: Toll-Like Receptor Pathway |
KEGG Pathways: |
| Unique id : H000598_01
Name: Nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor) |
Sum Func: | SP Function: receptor for glucocorticoids (gc). has a dual mode of action: as a transcription factor that binds to glucocorticoid response elements (gre) and as a modulator of other transcription factors. affects inflammatory responses, cellular proliferation and differentiation in target tissues. | Gene Ontology:
cellular component: molecular function: glucocorticoid receptor activity biological process: cellular component: cellular component: biological process: biological process: molecular function: molecular function: biological process: |
BioCarta Pathways:
1: Corticosteroids and cardioprotection 2: Chromatin Remodeling by hSWI/SNF ATP-dependent Complexes 3: NFkB activation by Nontypeable Hemophilus influenzae 4: Visceral Fat Deposits and the Metabolic Syndrome |
KEGG Pathways: |
| Unique id : H000514_01
Name: Neutrophil cytosolic factor 1 (47kDa, chronic granulomatous disease, autosomal 1) |
Sum Func: NCF1 encodes neutrophil cytosolic factor 1, the 47-kilodalton cytosolic subunit of the multi-protein complex known as NADPH oxidase found in neutrophils. This oxidase produces a burst of superoxide which is delivered to the lumen of the neutrophil phagosome. Mutations in NCF1, as well as in other NADPH oxidase subunits, can result in chronic granulomatous disease. | SP Function: ncf2, ncf1, and a membrane bound cytochrome b558 are required for activation of the latent nadph oxidase (necessary for superoxide production). | Gene Ontology:
molecular function: molecular function: biological process: cellular component: biological process: molecular function: biological process: molecular function: cellular component: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H010976_01
Name: Guanine nucleotide binding protein (G protein), alpha 15 (Gq class) |
Sum Func: | 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: biological process: biological process: cellular component: biological process: molecular function: biological process: |
BioCarta Pathways:
1: Bioactive Peptide Induced Signaling Pathway |
KEGG Pathways: |
| Unique id : H002927_01
Name: Serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 2 |
Sum Func: | SP Function: inhibits urokinase-type plasminogen activator. the monocyte derived pai-2 is distinct from the endothelial cell- derived pai-1. | Gene Ontology:
biological process: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H001857_01
Name: Transporter 1, ATP-binding cassette, sub-family B (MDR/TAP) |
Sum Func: The membrane-associated 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 MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance. The protein encoded by this gene is involved in the pumping of degraded cytosolic peptides across the endoplasmic reticulum into the membrane-bound compartment where class I molecules assemble. Mutations in this gene may be associated with ankylosing spondylitis, insulin-dependent diabetes mellitus, and celiac disease. | SP Function: involved in the transport of antigens from the cytoplasm to the endoplasmic reticulum for association with mhc class i molecules. also acts as a molecular scaffold for the final stage of mhc class i folding, namely the binding of peptide. nascent mhc class i molecules associate with tap via tapasin. inhibited by the covalent attachment of herpes simplex virus icp47 protein, which blocks the peptide-binding site of tap. inhibited by human cytomegalovirus us6 glycoprotein, which binds to the lumenal side of the tap complex and inhibits peptide translocation by specifically blocking atp-binding to tap1 and prevents the conformational rearrangement of tap induced by peptide binding. inhibited by human adenovirus e3-19k glycoprotein, which binds the tap complex and acts as a tapasin inhibitor, preventing mhc class i/tap association. expression of tap1 is down-regulated by human Epstein-barr virus vil-10 protein, thereby affecting the transport of peptides into the endoplasmic reticulum and subsequent peptide loading by mhc class i molecules. | Gene Ontology:
molecular function: molecular function: molecular function: cellular component: biological process: cellular component: molecular function: biological process: molecular function: molecular function: |
BioCarta Pathways:
1: Antigen Processing and Presentation |
KEGG Pathways: |
| Unique id : H010080_01
Name: ADP-ribosylation factor 6 |
Sum Func: ADP-ribosylation factor 6 (ARF6) 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 ARF6 protein is uniquely localized to the plasma membrane. | SP Function: | Gene Ontology:
molecular function: biological process: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H000649_01
Name: Proline-rich nuclear receptor coactivator 1 |
Sum Func: | SP Function: | Gene Ontology:
cellular component: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002671_01
Name: Natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A) |
Sum Func: NPR1 is a membrane-bound guanylate cyclase that serves as the receptor for both atrial and brain natriuretic peptides (ANP (MIM 108780) and BNP (MIM 600295), respectively).[supplied by OMIM] | SP Function: receptor for atrial natriuretic peptide. has guanylate cyclase activity on binding of anf. | Gene Ontology:
molecular function: biological process: biological process: biological process: biological process: molecular function: molecular function: cellular component: biological process: molecular function: biological process: biological process: biological process: molecular function: biological process: molecular function: molecular function: biological process: biological process: biological process: |
BioCarta Pathways: | KEGG Pathways:
2: Gap junction |
| Unique id : H008666_01
Name: Tumor necrosis factor, alpha-induced protein 2 |
Sum Func: This gene was identified as a gene whose expression can be induced by the tumor necrosis factor alpha (TNF) in umbilical vein endothelial cells. The expression of this gene was shown to be induced by retinoic acid in a cell line expressing a oncogenic version of the retinoic acid receptor alpha fusion protein, which suggested that this gene may be a retinoic acid target gene in acute promyelocytic leukemia. | SP Function: may play a role as a mediator of inflammation and angiogenesis. | Gene Ontology:
biological process: cellular component: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H013461_01
Name: TNFAIP3 interacting protein 1 |
Sum Func: | SP Function: interacts with zinc finger protein a20/tnfaip3 and inhibits tnf-induced nf-kappa-b-dependent gene expression by interfering with an rip- or traf2-mediated transactivation signal (by similarity). increases cell surface cd4(t4) antigen expression. interacts with hiv-1 matrix protein and is packaged into virions and overexpression can inhibit viral replication. may regulate matrix nuclear localization, both nuclear import of pic (preintegration complex) and export of gag polyprotein and viral genomic rna during virion production. | Gene Ontology:
biological process: biological process: cellular component: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H001630_01
Name: Adaptor-related protein complex 2, beta 1 subunit |
Sum Func: The beta adaptin subunit is part of the clathrin coat assembly complex which links clathrin to receptors in coated pits and vesicles. These vesicles are involved in endocytosis and Golgi processing. The beta 1 subunit is one of the assembly proteins which binds to clathrin and initiates coat formation. | SP Function: | Gene Ontology:
cellular component: cellular component: biological process: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H001462_01
Name: TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa |
Sum Func: Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is transcription factor IID (TFIID), which binds to the core promoter to position the polymerase properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for regulatory signals. TFIID is composed of the TATA-binding protein (TBP) and a group of evolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors (GTFs) to facilitate complex assembly and transcription initiation. This gene encodes a subunit of TFIID present in a subset of TFIID complexes. Translocations involving chromosome 17 and chromosome 9, where the gene for the nuclear receptor CSMF is located, result in a gene fusion product that is an RNA binding protein associated with a subset of extraskeletal myxoid chondrosarcomas. Two transcripts encoding different isoforms have been identified. | SP Function: rna and ssdna-binding protein that may play specific roles during transcription initiation at distinct promoters. can enter the preinitiation complex together with the rna polymerase ii (pol ii). | Gene Ontology:
molecular function: biological process: cellular component: molecular function: molecular function: cellular component: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002381_01
Name: CD9 antigen (p24) |
Sum Func: The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein that is known to complex with integrins and other transmembrane 4 superfamily proteins. It can modulate cell adhesion and migration and also trigger platelet activation and aggregation. In addition, the protein appears to promote muscle cell fusion and support myotube maintenance. | SP Function: involved in platelet activation and aggregation. regulates paranodal junction formation. required for gamete fusion. involved in cell adhesion, cell motility and tumor metastasis. | Gene Ontology:
biological process: biological process: biological process: cellular component: biological process: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002151_01
Name: Replication protein A2, 32kDa |
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:
cellular component: biological process: molecular function: cellular component: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H012840_01
Name: TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa |
Sum Func: Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is transcription factor IID (TFIID), which binds to the core promoter to position the polymerase properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for regulatory signals. TFIID is composed of the TATA-binding protein (TBP) and a group of evolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors (GTFs) to facilitate complex assembly and transcription initiation. This gene encodes a subunit of TFIID present in a subset of TFIID complexes. Translocations involving chromosome 17 and chromosome 9, where the gene for the nuclear receptor CSMF is located, result in a gene fusion product that is an RNA binding protein associated with a subset of extraskeletal myxoid chondrosarcomas. Two transcripts encoding different isoforms have been identified. | SP Function: rna and ssdna-binding protein that may play specific roles during transcription initiation at distinct promoters. can enter the preinitiation complex together with the rna polymerase ii (pol ii). | Gene Ontology:
molecular function: biological process: cellular component: molecular function: molecular function: cellular component: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H016047_01
Name: Superoxide dismutase 2, mitochondrial |
Sum Func: | SP Function: destroys radicals which are normally produced within the cells and which are toxic to biological systems. | Gene Ontology:
biological process: biological process: molecular function: molecular function: molecular function: cellular component: molecular function: biological process: biological process: biological process: molecular function: biological process: biological process: |
BioCarta Pathways:
1: Erythropoietin mediated neuroprotection through NF-kB |
KEGG Pathways: |
| Unique id : H003382_01
Name: BCL2-related protein A1 |
Sum Func: This gene encodes a member of the BCL-2 protein family. The proteins of this family form hetero- or homodimers and act as anti- and pro-apoptotic regulators that are involved in a wide variety of cellular activities such as embryonic development, homeostasis and tumorigenesis. The protein encoded by this gene is able to reduce the release of pro-apoptotic cytochrome c from mitochondria and block caspase activation. This gene is a direct transcription target of NF-kappa B in response to inflammatory mediators, and has been shown to be up-regulated by different extracellular signals, such as granulocyte-macrophage colony-stimulating factor (GM-CSF), CD40, phorbol ester and inflammatory cytokine TNF and IL-1, which suggests a cytoprotective function that is essential for lymphocyte activation as well as cell survival. | SP Function: retards apoptosis induced by il-3 deprivation. may function in the response of hemopoietic cells to external signals and in maintaining endothelial survival during infection (by similarity). | Gene Ontology:
biological process: cellular component: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H000433_01
Name: Guanylate binding protein 1, interferon-inducible, 67kDa |
Sum Func: Guanylate binding protein expression is induced by interferon. Guanylate binding proteins are characterized by their ability to specifically bind guanine nucleotides (GMP, GDP, and GTP) and are distinguished from the GTP-binding proteins by the presence of 2 binding motifs rather than 3 | SP Function: binds gtp, gdp and gmp. | Gene Ontology:
molecular function: molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002107_01
Name: Matrix metalloproteinase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase) |
Sum Func: Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Most MMP’s are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases. The enzyme encoded by this gene degrades type IV and V collagens. Studies in rhesus monkeys suggest that the enzyme is involved in IL-8-induced mobilization of hematopoietic progenitor cells from bone marrow, and murine studies suggest a role in tumor-associated tissue remodeling. | SP Function: could play a role in bone osteoclastic resorption. | Gene Ontology:
biological process: molecular function: cellular component: cellular component: molecular function: molecular function: molecular function: |
BioCarta Pathways:
1: Inhibition of Matrix Metalloproteinases |
KEGG Pathways: |
| Unique id : H010496_01
Name: Spectrin, beta, non-erythrocytic 1 |
Sum Func: | SP Function: fodrin, which seems to be involved in secretion, interacts with calmodulin in a calcium-dependent manner and is thus candidate for the calcium-dependent movement of the cytoskeleton at the membrane. | Gene Ontology:
molecular function: molecular function: molecular function: cellular component: cellular component: cellular component: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H010713_01
Name: SEC24 related gene family, member A (S. cerevisiae) |
Sum Func: In yeast, the Sec23-Sec24 complex is a component of coat protein II (COPII; see MIM 601924)-coated vesicles that mediate protein transport from the endoplasmic reticulum. SEC24A is 1 of several mammalian proteins that show structural and functional homology to yeast Sec24.[supplied by OMIM] | 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: cellular component: biological process: biological process: cellular component: cellular component: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002591_01
Name: General transcription factor IIH, polypeptide 4, 52kDa |
Sum Func: | SP Function: 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. | Gene Ontology:
biological process: cellular component: biological process: cellular component: molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H010732_01
Name: A disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3 |
Sum Func: This gene encodes a disintegrin and metalloproteinase with thrombospondin (ADAMTS) motifs-3, which is a member of the ADAMTS protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The protein encoded by this gene is the major procollagen II N-propeptidase. A deficiency of this protein may be responsible for dermatosparaxis, a genetic defect of connective tissues. | SP Function: cleaves the propeptides of type ii collagen prior to fibril assembly. does not act on types i and iii collagens. | Gene Ontology:
biological process: biological process: cellular component: molecular function: molecular function: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002727_01
Name: Matrix metalloproteinase 14 (membrane-inserted) |
Sum Func: Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Most MMP’s are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases. However, the protein encoded by this gene is a member of the membrane-type MMP (MT-MMP) subfamily; each member of this subfamily contains a potential transmembrane domain suggesting that these proteins are expressed at the cell surface rather than secreted. This protein activates MMP2 protein, and this activity may be involved in tumor invasion. | SP Function: seems to specifically activate progelatinase a. may thus trigger invasion by tumor cells by activating progelatinase a on the tumor cell surface. | Gene Ontology:
cellular component: molecular function: cellular component: molecular function: biological process: molecular function: |
BioCarta Pathways:
1: Inhibition of Matrix Metalloproteinases |
KEGG Pathways: |
| Unique id : H002460_01
Name: Plasminogen activator, tissue |
Sum Func: This gene encodes tissue-type plasminogen activator, a secreted serine protease which converts the proenzyme plasminogen to plasmin, a fibrinolytic enzyme. Tissue-type plasminogen activator is synthesized as a single chain which is cleaved by plasmin to a two chain disulfide linked protein. This enzyme plays a role in cell migration and tissue remodeling. Increased enzymatic activity causes hyperfibrinolysis, which manifests as excessive bleeding; decreased activity leads to hypofibrinolysis which can result in thrombosis or embolism. Alternative splicing of this gene produces three transcripts. | SP Function: converts the abundant, but inactive, zymogen plasminogen to plasmin by hydrolyzing a single arg-val bond in plasminogen. by controlling plasmin-mediated proteolysis, it plays an important role in tissue remodeling and degradation, in cell migration and many other physiopathological events. | Gene Ontology:
biological process: molecular function: cellular component: molecular function: molecular function: molecular function: biological process: biological process: biological process: molecular function: |
BioCarta Pathways:
1: Acute Myocardial Infarction 2: Fibrinolysis Pathway 3: Platelet Amyloid Precursor Protein Pathway |
KEGG Pathways: |
| Unique id : H002553_01
Name: Serine (or cysteine) proteinase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1 |
Sum Func: | SP Function: this inhibitor acts as “bait” for tissue plasminogen activator, urokinase, and protein c. its rapid interaction with tpa may function as a major control point in the regulation of fibrinolysis. | Gene Ontology:
biological process: cellular component: molecular function: molecular function: |
BioCarta Pathways:
1: Fibrinolysis Pathway 2: Platelet Amyloid Precursor Protein Pathway |
KEGG Pathways: |
| Unique id : H008736_01
Name: T-cell lymphoma invasion and metastasis 1 |
Sum Func: | SP Function: modulates the activity of rho-like proteins and connects extracellular signals to cytoskeletal activities. acts as a gdp- dissociation stimulator protein that stimulates the gdp-gtp exchange activity of rho-like gtpases and activates them. activates rac1, cdc42, and to a lesser extent rhoa. | Gene Ontology:
molecular function: biological process: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H005970_01
Name: Butyrophilin, subfamily 3, member A3 |
Sum Func: | SP Function: | Gene Ontology: | BioCarta Pathways: | KEGG Pathways: |
| Unique id : H005605_01
Name: Endothelial cell-specific molecule 1 |
Sum Func: This gene encodes a secreted protein which is mainly expressed in the endothelial cells in human lung and kidney tissues. The expression of this gene is regulated by cytokines, suggesting that it may play a role in endothelium-dependent pathological disorders. The transcript contains multiple polyadenylation and mRNA instability signals. | SP Function: | Gene Ontology:
cellular component: molecular function: molecular function: molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002617_01
Name: Chemokine (C-X-C motif) ligand 3 |
Sum Func: | SP Function: has chemotactic activity for neutrophils. may play a role in inflammation and exert its effects on endothelial cells in an autocrine fashion. in vitro, the processed form gro-gamma(5-73) shows a fivefold higher chemotactic activity for neutrophilic granulocytes. | Gene Ontology:
biological process: molecular function: biological process: cellular component: biological process: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003784_01
Name: Intercellular adhesion molecule 1 (CD54), human rhinovirus receptor |
Sum Func: ICAM1 (CD54) is typically expressed on endothelial cells and cells of the immune system. ICAM1 binds to integrins of type CD11a / CD18, or CD11b / CD18. ICAM1 is also exploited by Rhinovirus as a receptor. | SP Function: icam proteins are ligands for the leukocyte adhesion lfa-1 protein (integrin alpha-l/beta-2). | Gene Ontology:
biological process: cellular component: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H001215_01
Name: Pentaxin-related gene, rapidly induced by IL-1 beta |
Sum Func: | SP Function: | Gene Ontology:
cellular component: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003454_01
Name: Integrin, beta 6 |
Sum Func: | SP Function: integrin alpha-v/beta-6 is a receptor for fibronectin and cytotactin. it recognizes the sequence r-g-d it its ligands. | Gene Ontology:
biological process: cellular component: cellular component: biological process: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H001310_01
Name: Natural killer cell transcript 4 |
Sum Func: | SP Function: may play a role in lymphocyte activation. | Gene Ontology:
biological process: cellular component: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H001133_01
Name: WAP four-disulfide core domain 2 |
Sum Func: This gene generates 5 alternatively spliced transcript variants, which encode 5 different protein isoforms. These isoforms contain one or two WAP-type four-disulfide core (WFDC) domains, and are thus members of the WFDC domain family. The WFDC domain, or WAP Signature motif, contains eight cysteines forming four disulfide bonds at the core of the protein, and functions as a protease inhibitor in many family members. This gene is expressed in pulmonary epithelial cells, and was also found to be expressed in some ovarian cancers. The encoded isoforms are small secretory proteins, which may be involved in sperm maturation. | SP Function: | Gene Ontology:
cellular component: biological process: molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H001975_01
Name: Rho GDP dissociation inhibitor (GDI) beta |
Sum Func: | SP Function: regulates the gdp/gtp exchange reaction of the rho proteins by inhibiting the dissociation of gdp from them, and the subsequent binding of gtp to them. | Gene Ontology:
molecular function: molecular function: biological process: biological process: cellular component: biological process: biological process: biological process: |
BioCarta Pathways:
1: HIV-I Nef: negative effector of Fas and TNF 2: Caspase Cascade in Apoptosis 3: D4-GDI Signaling Pathway 4: FAS signaling pathway ( CD95 ) 5: TNFR1 Signaling Pathway |
KEGG Pathways: |
| Unique id : H003015_01
Name: Excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence) |
Sum Func: | SP Function: structure-specific dna repair endonuclease responsible for the 5-prime incision during dna repair. | Gene Ontology:
biological process: molecular function: molecular function: molecular function: molecular function: biological process: biological process: cellular component: cellular component: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003687_01
Name: T-cell lymphoma invasion and metastasis 1 |
Sum Func: | SP Function: modulates the activity of rho-like proteins and connects extracellular signals to cytoskeletal activities. acts as a gdp- dissociation stimulator protein that stimulates the gdp-gtp exchange activity of rho-like gtpases and activates them. activates rac1, cdc42, and to a lesser extent rhoa. | Gene Ontology:
molecular function: biological process: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H013445_01
Name: Rabaptin, RAB GTPase binding effector protein 1 |
Sum Func: | SP Function: | Gene Ontology: | BioCarta Pathways:
1: HIV-I Nef: negative effector of Fas and TNF 2: Acetylation and Deacetylation of RelA in The Nucleus 3: Ceramide Signaling Pathway 4: Induction of apoptosis through DR3 and DR4/5 Death Receptors 5: Keratinocyte Differentiation 6: MAP Kinase Signaling Pathway 7: NF-kB Signaling Pathway 8: p38 MAPK Signaling Pathway 9: SODD/TNFR1 Signaling Pathway 10: TNF/Stress Related Signaling 11: TNFR1 Signaling Pathway 12: TNFR2 Signaling Pathway |
KEGG Pathways: |
| Unique id : H000653_01
Name: Gamma-aminobutyric acid (GABA) B receptor, 1 |
Sum Func: Gamma-aminobutyric acid (GABA) is the main inhibitory neurotransmitter in the mammalian central nervous system. GABA exerts its effects through ionotropic [GABA(A/C)] receptors, to produce fast synaptic inhibition, and metabotropic [GABA(B)] receptors, to produce slow, prolonged inhibitory signals. The GABA(B) receptor consists of a heterodimer of two related 7-transmembrane receptors, GABA(B) receptor 1 and GABA(B) receptor 2. The GABA(B) receptor 1 gene is mapped to chromosome 6p21.3 within the HLA class I region close to the HLA-F gene. Susceptibility loci for multiple sclerosis, epilepsy, and schizophrenia have also been mapped in this region. Alternative splicing of this gene generates 4 transcript variants. | SP Function: the light-harvesting complex (lhc) functions as a light receptor, it captures and delivers excitation energy to photosystems with which it is closely associated. the n-terminus of the protein extends into the stroma where it is involved with adhesion of granal membranes and photoregulated by reversible phosphorylation of its threonine residues; both are believed to mediate the distribution of excitation energy between photosystems i and ii. | Gene Ontology:
molecular function: biological process: cellular component: biological process: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002964_01
Name: B-cell CLL/lymphoma 6 (zinc finger protein 51) |
Sum Func: The protein encoded by this gene is a zinc finger transcription factor and contains an N-terminal POZ domain. This protein acts as a sequence-specific repressor of transcription, and has been shown to modulate the transcription of START-dependent IL-4 responses of B cells. This protein can interact with a variety of POZ-containing proteins that function as transcription corepressors. This gene is found to be frequently translocated and hypermutated in diffuse large-cell lymphoma (DLCL), and may be involved in the pathogenesis of DLCL. Two alternatively spliced transcript variants that encode the identical protein have been reported for this gene. | SP Function: transcriptional regulator that probably plays an important role in lymphomagenesis. | Gene Ontology:
biological process: biological process: cellular component: biological process: cellular component: biological process: molecular function: biological process: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H001948_01
Name: Excision repair cross-complementing rodent repair deficiency, complementation group 5 (xeroderma pigmentosum, complementation group G (Cockayne syndrome)) |
Sum Func: Excision repair cross-complementing rodent repair deficiency, complementation group 5 (xeroderma pigmentosum, complementation group G) is involved in excision repair of UV-induced DNA damage. Mutations cause Cockayne syndrome, which is characterized by severe growth defects, mental retardation, and cachexia. Multiple alternatively spliced transcript variants encoding distinct isoforms have been described, but the biological validity of all variants has not been determined. | SP Function: single-stranded structure-specific dna endonuclease involved in dna excision repair. makes the 3’incision in dna nucleotide excision repair (ner). acts as a cofactor for a dna glycosylase that removes oxidised pyrimidines from DNA. may also be involved in transcription-coupled repair of this kind of damage, in transcription by rna polymerase ii, and perhaps in other processes too. | Gene Ontology:
molecular function: molecular function: cellular component: biological process: molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H000599_01
Name: Protein phosphatase 1D magnesium-dependent, delta isoform |
Sum Func: The protein encoded by this gene is a member of the PP2C family of Ser/Thr protein phosphatases. PP2C family members are known to be negative regulators of cell stress response pathways. The expression of this gene is induced in a p53-dependent manner in response to various environmental stresses. While being induced by tumor suppressor protein TP53/p53, this phosphatase negatively regulates the activity of p38 MAP kinase, MAPK/p38, through which it reduces the phosphorylation of p53, and in turn suppresses p53-mediated transcription and apoptosis. This phosphatase thus mediates a feedback regulation of p38-p53 signaling that contributes to growth inhibition and the suppression of stress induced apoptosis. This gene is located in a chromosomal region known to be amplified in breast cancer. The amplification of this gene has been detected in both breast cancer cell line and primary breast tumors, which suggests a role of this gene in cancer development. | SP Function: might contribute to growth inhibitory pathways activated in response to dna damage in a p53-dependent manner. | Gene Ontology:
molecular function: molecular function: molecular function: biological process: cellular component: biological process: molecular function: cellular component: biological process: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H006842_01
Name: Growth arrest and DNA-damage-inducible, beta |
Sum Func: This gene is a member of a group of genes whose transcript levels are increased following stressful growth arrest conditions and treatment with DNA-damaging agents. The genes in this group respond to environmental stresses by mediating activation of the p38/JNK pathway. This activation is mediated via their proteins binding and activating MTK1/MEKK4 kinase, which is an upstream activator of both p38 and JNK MAPKs. The function of these genes or their protein products is involved in the regulation of growth and apoptosis. These genes are regulated by different mechanisms, but they are often coordinately expressed and can function cooperatively in inhibiting cell growth. | SP Function: involved in the regulation of growth and apoptosis. mediates activation of stress-responsive mtk1/mekk4 mapkkk. | Gene Ontology:
biological process: biological process: biological process: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002799_01
Name: PMS2 postmeiotic segregation increased 2 (S. cerevisiae) |
Sum Func: The PMS2 gene is one of the PMS2 gene family members which are found in clusters on chromosome 7. In addition, PMS2 is located approximately 200 base pairs from the JTV1 gene; the two genes are arranged in a head-to-head fashion and are transcribed from opposite strands. The PMS2 gene product is involved in DNA mismatch repair. The protein forms a heterodimer with MLH1 and this complex interacts with MSH2 bound to mismatched bases. PMS2 mutations are associated with hereditary nonpolyposis colorectal cancer. | SP Function: involved in the repair of mismatches in DNA. | Gene Ontology:
molecular function: molecular function: biological process: biological process: cellular component: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002304_01
Name: Cell division cycle 25B |
Sum Func: CDC25B is a member of the CDC25 family of phosphatases. CDC25B activates the cyclin dependent kinase CDC2 by removing two phosphate groups and it is required for entry into mitosis. CDC25B shuttles between the nucleus and the cytoplasm due to nuclear localization and nuclear export signals. The protein is nuclear in the M and G1 phases of the cell cycle and moves to the cytoplasm during S and G2. CDC25B has oncogenic properties, although its role in tumor formation has not been determined. Multiple transcript variants for this gene exist. | SP Function: functions as a dosage-dependent inducer in mitotic control. it is a tyrosine protein phosphatase required for progression of the cell cycle. it directly dephosphorylates cdc2 and activate its kinase activity. the three isoforms seem to have a different level of activity. | Gene Ontology:
biological process: biological process: molecular function: cellular component: cellular component: biological process: biological process: biological process: molecular function: molecular function: biological process: |
BioCarta Pathways: | 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 : H006026_01
Name: Three prime repair exonuclease 1 Locus Link: 11277 |
Sum Func: This gene uses two different open reading frames. The upstream ORF encodes proteins which interact with the ataxia telangiectasia and Rad3 related protein, a checkpoint kinase. The proteins encoded by this upstream ORF localize to intranuclear foci following DNA damage and are essential components of the DNA damage checkpoint. The downstream ORF encodes proteins with 3′ exonuclease activity. Other enzymes with this activity are involved in DNA replication, repair, and recombination. Similarity to an E. coli protein suggests that the enzymes encoded by this ORF may be a subunit of DNA polymerase III, which does not have intrinsic exonuclease activity. Both ORFs are subject to alternative splicing, resulting in six transcript variants. | SP Function: | Gene Ontology:
molecular function: molecular function: biological process: biological process: biological process: molecular function: molecular function: molecular function: biological process: cellular component: cellular component: molecular function: molecular function: |
BioCarta Pathways:
1: Role of BRCA1, BRCA2 and ATR in Cancer Susceptibility |
KEGG Pathways: |
| Unique id : H001906_01
Name: CDC20 cell division cycle 20 homolog (S. cerevisiae) |
Sum Func: CDC20 appears to act as a regulatory protein interacting with several other proteins at multiple points in the cell cycle. It is required for two microtubule-dependent processes, nuclear movement prior to anaphase and chromosome separation. | SP Function: | Gene Ontology:
biological process: biological process: biological process: cellular component: biological process: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H004571_01
Name: MRE11 meiotic recombination 11 homolog A (S. cerevisiae) |
Sum Func: This gene encodes a nuclear protein involved in homologous recombination, telomere length maintenance, and DNA double-strand break repair. By itself, the protein has 3′ to 5′ exonuclease activity and endonuclease activity. The protein forms a complex with the RAD50 homolog; this complex is required for nonhomologous joining of DNA ends and possesses increased single-stranded DNA endonuclease and 3′ to 5′ exonuclease activities. In conjunction with a DNA ligase, this protein promotes the joining of noncomplementary ends in vitro using short homologies near the ends of the DNA fragments. This gene has a pseudogene on chromosome 3. Alternative splicing of this gene results in two transcript variants encoding different isoforms. | SP Function: involved in dna double-strand break repair (dsbr). possesses single-strand endonuclease activity and double-strand- specific 3′-5′ exonuclease activity. also involved in meiotic dsb processing. | Gene Ontology:
molecular function: biological process: molecular function: molecular function: molecular function: biological process: biological process: cellular component: biological process: molecular function: biological process: |
BioCarta Pathways:
1: ATM Signaling Pathway 2: Role of BRCA1, BRCA2 and ATR in Cancer Susceptibility |
KEGG Pathways: |
| Unique id : H000328_01
Name: Forkhead box O3A |
Sum Func: This gene belongs to the forkhead family of transcription factors which are characterized by a distinct forkhead domain. This gene likely functions as a trigger for apoptosis through expression of genes necessary for cell death. Translocation of this gene with the MLL gene is associated with secondary acute leukemia. Alternatively spliced transcript variants encoding the same protein have been observed. | SP Function: probable transcription factor that may trigger apoptosis by inducing the expression of genes that are critical for cell death. | Gene Ontology:
biological process: biological process: cellular component: biological process: cellular component: biological process: molecular function: biological process: |
BioCarta Pathways:
1: Role of nicotinic acetylcholine receptors in the regulation of apoptosis 2: AKT Signaling Pathway 3: The IGF-1 Receptor and Longevity 4: PTEN dependent cell cycle arrest and apoptosis |
KEGG Pathways: |
| Unique id : H002599_01
Name: Proliferating cell nuclear antigen |
Sum Func: The protein encoded by this gene is found in the nucleus and is a cofactor of DNA polymerase delta. The encoded protein acts as a homotrimer and helps increase the processivity of leading strand synthesis during DNA replication. In response to DNA damage, this protein is ubiquitinated and is involved in the RAD6-dependent DNA repair pathway. Two transcript variants encoding the same protein have been found for this gene. Pseudogenes of this gene have been described on chromosome 4 and on the X chromosome. | SP Function: this protein is an auxiliary protein of dna polymerase delta and is involved in the control of eukaryotic dna replication by increasing the polymerase’s processibility during elongation of the leading strand. | Gene Ontology:
molecular function: molecular function: biological process: biological process: biological process: cellular component: cellular component: biological process: biological process: |
BioCarta Pathways:
1: p53 Signaling Pathway |
KEGG Pathways: |
| Unique id : H002396_01
Name: Ligase IV, DNA, ATP-dependent |
Sum Func: The protein encoded by this gene is a DNA ligase that joins single-strand breaks in a double-stranded polydeoxynucleotide in an ATP-dependent reaction. This protein is essential for V(D)J recombination and DNA double-strand break (DSB) repair through nonhomologous end joining (NHEJ). This protein forms a complex with the X-ray repair cross complementing protein 4 (XRCC4), and further interacts with the DNA-dependent protein kinase (DNA-PK). Both XRCC4 and DNA-PK are known to be required for NHEJ. The crystal structure of the complex formed by this protein and XRCC4 has been resolved. Defects in this gene are the cause of LIG4 syndrome. Alternatively spliced transcript variants encoding the same protein have been observed. | SP Function: efficiently joins single-strand breaks in a double- stranded polydeoxynucleotide in an atp-dependent reaction. involved in dna nonhomologous end joining (nhej) required for double-strand break repair and v(d)j recombination. binds to xrcc4. the lig4-xrcc4 complex is responsible for the nhej ligation step, and xrcc4 enhances the joining activity of lig4. binding of the lig4-xrcc4 complex to dna ends is dependent on the assembly of the dna-dependent protein kinase complex dna-pk to these dna ends. | Gene Ontology:
molecular function: molecular function: molecular function: biological process: biological process: biological process: molecular function: cellular component: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003113_01
Name: Alpha thalassemia/mental retardation syndrome X-linked (RAD54 homolog, S. cerevisiae) |
Sum Func: The protein encoded by this gene contains an ATPase/helicase domain, and thus it belongs to the SWI/SNF family of chromatin remodeling proteins. The mutations of this gene are associated with an X-linked mental retardation (XLMR) syndrome most often accompanied by alpha-thalassemia (ATRX) syndrome. Theses mutations have been shown to cause diverse changes in the pattern of DNA methylation, which may provide a link between chromatin remodeling, DNA methylation, and gene expression in developmental processes. This protein is found to undergo cell cycle-dependent phosphorylation, which regulates its nuclear matrix and chromatin association, and suggests its involvement in the gene regulation at interphase and chromosomal segregation in mitosis. Three alternatively spliced transcript variants encoding distinct isoforms have been reported. | SP Function: could be a global transcriptional regulator. modifies gene expression by affecting chromatin. may be involved in brain development and facial morphogenesis. | Gene Ontology:
molecular function: molecular function: biological process: biological process: biological process: biological process: cellular component: cellular component: biological process: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003091_01
Name: X-ray repair complementing defective repair in Chinese hamster cells 4 |
Sum Func: The protein encoded by this gene functions together with DNA ligase IV and the DNA-dependent protein kinase in the repair of DNA double-strand break by non-homologous end joining and the completion of V(D)J recombination events. The non-homologous end-joining pathway is required both for normal development and for suppression of tumors. This gene functionally complements XR-1 Chinese hamster ovary cell mutant, which is impaired in DNA double-strand breaks produced by ionizing radiation and restriction enzymes. This gene contains 8 exons, and alternative transcription initiation and alternative splicing generates several transcript variants. | SP Function: | Gene Ontology:
biological process: biological process: cellular component: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003271_01
Name: N-methylpurine-DNA glycosylase |
Sum Func: | SP Function: hydrolysis of the deoxyribose n-glycosidic bond to excise 3-methyladenine, and 7-methylguanine from the damaged dna polymer formed by alkylation lesions. | Gene Ontology:
biological process: molecular function: biological process: molecular function: molecular function: cellular component: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002699_01
Name: Telomerase reverse transcriptase |
Sum Func: Telomerase is a ribonucleoprotein polymerase that maintains telomere ends by addition of the telomere repeat TTAGGG. The enzyme consists of a protein component with reverse transcriptase activity, encoded by this gene, and an RNA component which serves as a template for the telomere repeat. Telomerase expression plays a role in cellular senescence, as it is normally repressed in postnatal somatic cells resulting in progressive shortening of telomeres. Deregulation of telomerase expression in somatic cells may be involved in oncogenesis. Studies in mouse suggest that telomerase also participates in chromosomal repair, since de novo synthesis of telomere repeats may occur at double-stranded breaks. Alternatively spliced variants encoding different isoforms of telomerase reverse transcriptase have been identified; the full-length sequence of some variants has not been determined. Alternative splicing at this locus is thought to be one mechanism of regulation of telomerase activity. | SP Function: telomerase is a ribonucleoprotein enzyme essential for the replication of chromosome termini in most eukaryotes. it elongates telomeres. it is a reverse transcriptase that adds simple sequence repeats to chromosome ends by copying a template sequence within the rna component of the enzyme. | Gene Ontology:
molecular function: molecular function: biological process: molecular function: cellular component: cellular component: cellular component: biological process: molecular function: molecular function: molecular function: molecular function: |
BioCarta Pathways:
1: Role of nicotinic acetylcholine receptors in the regulation of apoptosis 2: Telomeres, Telomerase, Cellular Aging, and Immortality |
KEGG Pathways: |
| Unique id : H002171_01
Name: Purine-rich element binding protein A |
Sum Func: This gene product is a sequence-specific, single-stranded DNA-binding protein. It binds preferentially to the single strand of the purine-rich element termed PUR, which is present at origins of replication and in gene flanking regions in a variety of eukaryotes from yeasts through humans. Thus, it is implicated in the control of both DNA replication and transcription. Deletion of this gene has been associated with myelodysplastic syndrome and acute myelogenous leukemia. | SP Function: this is a probable transcription activator that specifically binds the purine-rich single strand of the pur element located upstream of the myc gene. may play a role in the initiation of dna replication and in recombination. | Gene Ontology:
biological process: molecular function: cellular component: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002443_01
Name: Baculoviral IAP repeat-containing 3 |
Sum Func: The protein encoded by this gene is a member of a family of proteins that inhibits apoptosis by binding to tumor necrosis factor receptor-associated factors TRAF1 and TRAF2, probably by interfering with activation of ICE-like proteases. The encoded protein inhibits apoptosis induced by serum deprivation but does not affect apoptosis resulting from exposure to menadione, a potent inducer of free radicals. The amino acid sequence predicts three baculovirus IAP repeat domains and a ring finger domain. Transcript variants encoding the same isoform have been identified. | SP Function: apoptotic suppressor. the bir motifs region interacts with tnf receptor associated factors 1 and 2 (traf1 and traf2) to form an heteromeric complex, which is then recruited to the tumor necrosis factor receptor 2 (tnfr2). | Gene Ontology:
biological process: biological process: molecular function: molecular function: biological process: biological process: cellular component: molecular function: molecular function: |
BioCarta Pathways:
1: HIV-I Nef: negative effector of Fas and TNF 2: Caspase Cascade in Apoptosis 3: Role of Mitochondria in Apoptotic Signaling 4: SODD/TNFR1 Signaling Pathway |
KEGG Pathways: |
| Unique id : H014140_01
Name: Leucine-rich repeats and death domain containing |
Sum Func: The protein encoded by this gene contains a leucine-rich repeat and a death domain. This protein has been shown to interact with other death domain proteins, such as Fas (TNFRSF6)-associated via death domain (FADD) and MAP-kinase activating death domain-containing protein (MADD), and thus may function as an adaptor protein in cell death-related signaling processes. The expression of the mouse counterpart of this gene has been found to be positively regulated by the tumor suppressor p53 and to induce cell apoptosis in response to DNA damage, which suggests a role for this gene as an effector of p53-dependent apoptosis. Three alternatively spliced transcript variants encoding distinct isoforms have been reported. | SP Function: | Gene Ontology:
molecular function: molecular function: biological process: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003048_01
Name: Cell division cycle 25C |
Sum Func: This gene is highly conserved during evolution and it plays a key role in the regulation of cell division. The encoded protein is a tyrosine phosphatase and belongs to the Cdc25 phosphatase family. It directs dephosphorylation of cyclin B-bound CDC2 and triggers entry into mitosis. It is also thought to suppress p53-induced growth arrest. Multiple alternatively spliced transcript variants of this gene have been described, however, the full-length nature of many of them is not known. | SP Function: functions as a dosage-dependent inducer in mitotic control. it is a tyrosine protein phosphatase required for progression of the cell cycle. it directly dephosphorylates cdc2 and activate its kinase activity. | Gene Ontology:
biological process: molecular function: cellular component: biological process: molecular function: biological process: biological process: biological process: |
BioCarta Pathways:
1: How Progesterone Initiates the Oocyte Maturation 2: Regulation of cell cycle progression by Plk3 |
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 : H002206_01
Name: Legumain |
Sum Func: This gene encodes for a cysteine protease that specifically cleaves after asparagine residues. This enzyme may be involved in the processing of bacterial peptides and endogenous proteins for MHC class II presentation in the lysosomal/endosomal systems. Enzyme activation is triggered by acidic pH and appears to be autocatalytic. Protein expression occurs after monocytes differentiate into dendritic cells. A fully mature, active enzyme is produced following lipopolysaccharide expression in mature dendritic cells. Overexpression of this gene may be associated with the majority of solid tumor types. This gene has a pseudogene on chromosome 13. Alternative splicing results in multiple transcript variants encoding different isoforms. | SP Function: has a strict specificity for hydrolysis of asparaginyl bonds. can also cleave aspartyl bonds slowly, especially under acidic conditions. may be involved in the processing of proteins for mhc class ii antigen presentation in the lysosomal/endosomal system. | Gene Ontology:
molecular function: molecular function: cellular component: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002771_01
Name: APEX nuclease (multifunctional DNA repair enzyme) 1 |
Sum Func: Apurinic/apyrimidinic (AP) sites occur frequently in DNA molecules by spontaneous hydrolysis, by DNA damaging agents or by DNA glycosylases that remove specific abnormal bases. AP sites are pre-mutagenic lesions that can prevent normal DNA replication so the cell contains systems to identify and repair such sites. Class II AP endonucleases cleave the phosphodiester backbone 5′ to the AP site. This gene encodes the major AP endonuclease in human cells. Splice variants have been found for this gene; all encode the same protein. | SP Function: repairs oxidative dna damages in vitro. may have a role in protection against cell lethality and suppression of mutations. removes the blocking groups from the 3′ termini of the dna strand breaks generated by ionizing radiations and bleomycin. | Gene Ontology:
molecular function: molecular function: molecular function: biological process: molecular function: cellular component: molecular function: molecular function: cellular component: molecular function: cellular component: molecular function: molecular function: biological process: molecular function: cellular component: molecular function: molecular function: biological process: molecular function: |
BioCarta Pathways:
1: Granzyme A mediated Apoptosis Pathway |
KEGG Pathways: |
| Unique id : H007300_01
Name: Ribonucleotide reductase M2 B (TP53 inducible) |
Sum Func: | SP Function: | Gene Ontology: | BioCarta Pathways: | KEGG Pathways: |
| Unique id : H011910_01
Name: Growth arrest and DNA-damage-inducible, beta |
Sum Func: This gene is a member of a group of genes whose transcript levels are increased following stressful growth arrest conditions and treatment with DNA-damaging agents. The genes in this group respond to environmental stresses by mediating activation of the p38/JNK pathway. This activation is mediated via their proteins binding and activating MTK1/MEKK4 kinase, which is an upstream activator of both p38 and JNK MAPKs. The function of these genes or their protein products is involved in the regulation of growth and apoptosis. These genes are regulated by different mechanisms, but they are often coordinately expressed and can function cooperatively in inhibiting cell growth. | SP Function: involved in the regulation of growth and apoptosis. mediates activation of stress-responsive mtk1/mekk4 mapkkk. | Gene Ontology:
biological process: biological process: biological process: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003192_01
Name: CDC6 cell division cycle 6 homolog (S. cerevisiae) |
Sum Func: The protein encoded by this gene is highly similar to Saccharomyces cerevisiae Cdc6, a protein essential for the initiation of DNA replication. This protein functions as a regulator at the early steps of DNA replication. It localizes in cell nucleus during cell cycle G1, but translocates to the cytoplasm at the start of S phase. The subcellular translocation of this protein during cell cycle is regulated through its phosphorylation by Cdks. Transcription of this protein was reported to be regulated in response to mitogenic signals through transcriptional control mechanism involving E2F proteins. | SP Function: | Gene Ontology:
molecular function: biological process: biological process: biological process: biological process: cellular component: biological process: biological process: biological process: molecular function: molecular function: cellular component: biological process: biological process: |
BioCarta Pathways:
1: CDK Regulation of DNA Replication |
KEGG Pathways: |
| Unique id : H003351_01
Name: Protein kinase, DNA-activated, catalytic polypeptide |
Sum Func: The PRKDC gene encodes the catalytic subunit of a nuclear DNA-dependent serine/threonine protein kinase (DNA-PK). The second component is the autoimmune antigen Ku (MIM 152690), which is encoded by the G22P1 gene on chromosome 22q. On its own, the catalytic subunit of DNA-PK is inactive and relies on the G22P1 component to direct it to the DNA and trigger its kinase activity; PRKDC must be bound to DNA to express its catalytic properties.[supplied by OMIM] | SP Function: ser/thr kinase involved in dna nonhomologous end joining (nhej) required for double-strand break repair and v(d)j recombination. must be bound to dna to express its catalytic properties and the assembly of the dna-pk complex to dna ends is required for the nhej ligation step. involved in modulation of transcription. | Gene Ontology:
molecular function: biological process: biological process: cellular component: biological process: molecular function: molecular function: |
BioCarta Pathways:
1: HIV-I Nef: negative effector of Fas and TNF 2: FAS signaling pathway ( CD95 ) 3: Cell Cycle: G2/M Checkpoint 4: TNFR1 Signaling Pathway |
KEGG Pathways: |
| Unique id : H010490_01
Name: Three prime repair exonuclease 1 |
Sum Func: This gene uses two different open reading frames. The upstream ORF encodes proteins which interact with the ataxia telangiectasia and Rad3 related protein, a checkpoint kinase. The proteins encoded by this upstream ORF localize to intranuclear foci following DNA damage and are essential components of the DNA damage checkpoint. The downstream ORF encodes proteins with 3′ exonuclease activity. Other enzymes with this activity are involved in DNA replication, repair, and recombination. Similarity to an E. coli protein suggests that the enzymes encoded by this ORF may be a subunit of DNA polymerase III, which does not have intrinsic exonuclease activity. Both ORFs are subject to alternative splicing, resulting in six transcript variants. | SP Function: | Gene Ontology:
molecular function: molecular function: biological process: biological process: biological process: molecular function: molecular function: molecular function: biological process: cellular component: cellular component: molecular function: molecular function: |
BioCarta Pathways:
1: Role of BRCA1, BRCA2 and ATR in Cancer Susceptibility |
KEGG Pathways: |
| Unique id : H005930_01
Name: Sestrin 1 |
Sum Func: | SP Function: | Gene Ontology:
biological process: biological process: cellular component: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H006805_01
Name: Small fragment nuclease |
Sum Func: Nucleases are components of DNA and RNA metabolism that carry out functions in DNA repair, replication, and recombination and in RNA processing and degradation. SFN is a homolog of Orn, a 3-prime-to-5-prime exoribonuclease of E. coli that attacks the free 3-prime hydroxyl group on single-stranded RNA, releasing 5-prime mononucleotides in a sequential manner.[supplied by OMIM] | SP Function: 3′-to-5′ exoribonuclease specific for small oligoribonucleotides. cc active on small (primarily Gene Ontology:
molecular function: molecular function: molecular function: cellular component: biological process: cellular component: |
BioCarta Pathways: | KEGG Pathways: | |
| Unique id : H002242_01
Name: RAD23 homolog A (S. cerevisiae) |
Sum Func: The protein encoded by this gene is one of two human homologs of Saccharomyces cerevisiae Rad23, a protein involved in nucleotide excision repair (NER). This protein was shown to interact with, and elevate the nucleotide excision activity of 3-methyladenine-DNA glycosylase (MPG), which suggested a role in DNA damage recognition in base excision repair. This protein contains an N-terminal ubiquitin-like domain, which was reported to interact with 26S proteasome, as well as with ubiquitin protein ligase E6AP, and thus suggests that this protein may be involved in the ubiquitin mediated proteolytic pathway in cells. | SP Function: involved in postreplication repair of uv-damaged DNA. postreplication repair functions in gap-filling of a daughter strand on replication of damaged dna (potential). | Gene Ontology:
biological process: cellular component: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003045_01
Name: Tumor necrosis factor receptor superfamily, member 10b |
Sum Func: The protein encoded by this gene is a member of the TNF-receptor superfamily, and contains an intracelluar death domain. This receptor can be activated by tumor necrosis factor-related apoptosis inducing ligand (TNFSF10/TRAIL/APO-2L), and transduces apoptosis signal. Studies with FADD-deficient mice suggested that FADD, a death domain containing adaptor protein, is required for the apoptosis mediated by this protein. | SP Function: receptor for the cytotoxic ligand tnfsf10/trail. the adaptor 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. promotes the activation of nf- kappa-b. | Gene Ontology:
molecular function: biological process: biological process: molecular function: biological process: molecular function: biological process: biological process: cellular component: molecular function: biological process: molecular function: molecular function: biological process: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002401_01
Name: X-ray repair complementing defective repair in Chinese hamster cells 2 |
Sum Func: This gene encodes a member of the RecA/Rad51-related protein family that participates in homologous recombination to maintain chromosome stability and repair DNA damage. This gene is involved in the repair of DNA double-strand breaks by homologous recombination and it functionally complements Chinese hamster irs1, a repair-deficient mutant that exhibits hypersensitivity to a number of different DNA-damaging agents. | SP Function: involved in the homologous recombination repair (hrr) pathway of double-stranded dna, thought to repair chromosomal fragmentation, translocations and deletions. the bcdx2 complex binds single-stranded dna, single-stranded gaps in duplex dna and specifically to nicks in duplex DNA. | Gene Ontology:
molecular function: biological process: biological process: molecular function: molecular function: biological process: cellular component: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002986_01
Name: RAD23 homolog B (S. cerevisiae) |
Sum Func: The protein encoded by this gene is one of two human homologs of Saccharomyces cerevisiae Rad23, a protein involved in the nucleotide excision repair (NER). This protein was found to be a component of the protein complex that specifically complements the NER defect of xeroderma pigmentosum group C (XP-c) cell extracts in vitro. This protein was also shown to interact with, and elevate the nucleotide excision activity of 3-methyladenine-DNA glycosylase (MPG), which suggested a role in DNA damage recognition in base excision repair. This protein contains an N-terminal ubiquitin-like domain, which was reported to interact with 26S proteasome, and thus this protein may be involved in the ubiquitin mediated proteolytic pathway in cells. | 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:
biological process: cellular component: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002063_01
Name: Damage-specific DNA binding protein 2, 48kDa |
Sum Func: DDB2 is the smaller subunit of a heterodimeric protein implicated in the etiology of xeroderma pigmentosum group E. This subunit appears to be required for DNA binding. | SP Function: involved in the repair of uv-damaged DNA. binds to pyrimidine dimers. | Gene Ontology:
molecular function: biological process: cellular component: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002571_01
Name: MRE11 meiotic recombination 11 homolog A (S. cerevisiae) |
Sum Func: This gene encodes a nuclear protein involved in homologous recombination, telomere length maintenance, and DNA double-strand break repair. By itself, the protein has 3′ to 5′ exonuclease activity and endonuclease activity. The protein forms a complex with the RAD50 homolog; this complex is required for nonhomologous joining of DNA ends and possesses increased single-stranded DNA endonuclease and 3′ to 5′ exonuclease activities. In conjunction with a DNA ligase, this protein promotes the joining of noncomplementary ends in vitro using short homologies near the ends of the DNA fragments. This gene has a pseudogene on chromosome 3. Alternative splicing of this gene results in two transcript variants encoding different isoforms. | SP Function: involved in dna double-strand break repair (dsbr). possesses single-strand endonuclease activity and double-strand- specific 3′-5′ exonuclease activity. also involved in meiotic dsb processing. | Gene Ontology:
molecular function: biological process: molecular function: molecular function: molecular function: biological process: biological process: cellular component: biological process: molecular function: biological process: |
BioCarta Pathways:
1: ATM Signaling Pathway 2: Role of BRCA1, BRCA2 and ATR in Cancer Susceptibility |
KEGG Pathways: |
| Unique id : H002821_01
Name: Damage-specific DNA binding protein 1, 127kDa |
Sum Func: This gene encodes the large subunit of DNA damage-binding protein which is a heterodimer composed of a large and a small subunit. This protein functions in nucleotide-excision repair. Its defective activity causes the repair defect in the patients with xeroderma pigmentosum complementation group E (XPE). However, it remains for mutation analysis to demonstrate whether the defect in XPE patients is in this gene or the gene encoding the small subunit. In addition, Best vitelliform macular dystrophy is mapped to the same region as this gene on 11q, but no sequence alternations of this gene are demonstrated in Best disease patients. | SP Function: involved in the repair of uv-damaged DNA. binds to pyrimidine dimers. | Gene Ontology:
molecular function: biological process: cellular component: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003803_01
Name: Baculoviral IAP repeat-containing 2 |
Sum Func: The protein encoded by this gene is a member of a family of proteins that inhibits apoptosis by binding to tumor necrosis factor receptor-associated factors TRAF1 and TRAF2, probably by interfering with activation of ICE-like proteases. This encoded protein inhibits apoptosis induced by serum deprivation and menadione, a potent inducer of free radicals. | SP Function: apoptotic suppressor. the bir motifs region interacts with tnf receptor associated factors 1 and 2 (traf1 and traf2) to form an heteromeric complex, which is then recruited to the tumor necrosis factor receptor 2 (tnfr2). | Gene Ontology:
biological process: biological process: biological process: molecular function: biological process: biological process: molecular function: cellular component: molecular function: molecular function: |
BioCarta Pathways:
1: Caspase Cascade in Apoptosis 2: Role of Mitochondria in Apoptotic Signaling |
KEGG Pathways: |
| Unique id : H000475_01
Name: Apoptotic protease activating factor |
Sum Func: This gene encodes a cytoplasmic protein that initiates apoptosis. This protein contains several copies of the WD-40 domain, a caspase recruitment domain (CARD), and an ATPase domain (NB-ARC). Upon binding cytochrome c and dATP, this protein forms an oligomeric apoptosome. The apoptosome binds and cleaves caspase 9 preproprotein, releasing its mature, activated form. Activated caspase 9 stimulates the subsequent caspase cascade that commits the cell to apoptosis. Alternative splicing results in several transcript variants encoding different isoforms. | SP Function: oligomeric apaf-1 mediates the cytochrome c-dependent autocatalytic activation of pro-caspase-9 (apaf-3), leading to the activation of caspase-3 and apoptosis. this activation requires atp. isoform 6 is less effective in inducing apoptosis. | Gene Ontology:
molecular function: biological process: molecular function: cellular component: cellular component: biological process: molecular function: molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H001939_01
Name: BTG family, member 2 |
Sum Func: The protein encoded by this gene is a member of the BTG/Tob family. This family has structurally related proteins that appear to have antiproliferative properties. This encoded protein is involved in the regulation of the G1/S transition of the cell cycle. | SP Function: anti-proliferative protein. modulates transcription regulation mediated by esr1. | Gene Ontology:
biological process: biological process: biological process: molecular function: |
BioCarta Pathways:
1: BTG family proteins and cell cycle regulation |
KEGG Pathways: |
| Unique id : H009125_01
Name: BCL2 binding component 3 |
Sum Func: | SP Function: | Gene Ontology: | BioCarta Pathways: | KEGG Pathways: |
| Unique id : H000077_01
Name: RAD1 homolog (S. pombe) |
Sum Func: The protein encoded by this gene is highly similar to the gene product of Schizosaccharomyces pombe rad1, a cell cycle checkpoint gene required for cell cycle arrest and DNA damage repair in response to DNA damage. This protein has been shown to associate with RAD9 and HUS1 proteins, and forms a cell cycle checkpoint complex. The complex can be recruited by checkpoint protein RAD17 to the sites of DNA damage, which is thought to be important for triggering the checkpoint-signaling cascade. Three alternatively spliced transcript variants, which encode two distinct proteins, have been reported. | SP Function: | Gene Ontology:
molecular function: molecular function: biological process: biological process: biological process: molecular function: molecular function: cellular component: cellular component: |
BioCarta Pathways:
1: Role of BRCA1, BRCA2 and ATR in Cancer Susceptibility |
KEGG Pathways: |
| Unique id : H000616_01
Name: Nucleoside phosphorylase |
Sum Func: NP encodes the enzyme purine nucleoside phosphorylase that together with adenosine deaminase (ADA) serves a key role in purine catabolism, referred to as the salvage pathway. Mutations in either enzyme result in a severe combined immunodeficiency (SCID). | SP Function: | Gene Ontology:
biological process: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H001694_01
Name: Phosphodiesterase 1A, calmodulin-dependent |
Sum Func: | SP Function: has a higher affinity for cgmp than for camp. | Gene Ontology:
molecular function: molecular function: molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H001384_01
Name: Adenylate kinase 2 |
Sum Func: Adenylate kinases are involved in regulating the adenine nucleotide composition within a cell by catalyzing the reversible transfer of phosphate groups among adenine nucleotides. Three isozymes of adenylate kinase, namely 1, 2, and 3, have been identified in vertebrates; this gene encodes isozyme 2. Expression of these isozymes is tissue-specific and developmentally regulated. Isozyme 2 is localized in the mitochondrial intermembrane space and may play a role in apoptosis. Transcript variants encoding distinct isoforms have been identified for this gene. | SP Function: this small ubiquitous enzyme is essential for maintenance and cell growth. | Gene Ontology:
molecular function: molecular function: molecular function: cellular component: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002879_01
Name: Polymerase (DNA directed), beta |
Sum Func: In eukaryotic cells, DNA polymerase beta (POLB) performs base excision repair (BER) required for DNA maintenance, replication, recombination, and drug resistance. Also see POLA (MIM 312040).[supplied by OMIM] | SP Function: repair polymerase. conducts “gap-filling” dna synthesis in a stepwise distributive fashion rather than in a processive fashion as for other dna polymerases. | Gene Ontology:
molecular function: biological process: biological process: molecular function: molecular function: cellular component: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H000696_01
Name: Natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B) |
Sum Func: NPR2 encodes natriuretic peptide receptor B, one of two integral membrane receptors for natriuretic peptides. Both NPR1 and NPR2 contain five functional domains: an extracellular ligand-binding domain, a single membrane-spanning region, and intracellularly a protein kinase homology domain), an helical hinge region involved in oligomerization, and a carboxyl-terminal guanylyl cyclase catalytic domain. NPR2 is the primary receptor for C-type natriuretic peptide (CNP), which upon ligand binding exhibits greatly increased guanylyl cyclase activity. | SP Function: receptor for atrial natriuretic peptide. has guanylate cyclase activity on binding of anf. seems to be stimulated more effectively by brain natriuretic peptide (bnp) than by anp. | Gene Ontology:
molecular function: biological process: biological process: molecular function: cellular component: biological process: molecular function: molecular function: cellular component: biological process: molecular function: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways:
2: Gap junction |
| Unique id : H002908_01
Name: Ribonucleotide reductase M1 polypeptide |
Sum Func: This gene encodes one of two non-identical subunits which constitute ribonucleoside-diphosphate reductase, an enzyme essential for the production of deoxyribonucleotides prior to DNA synthesis in S phase of dividing cells. It is one of several genes located in the imprinted gene domain of 11p15.5, an important tumor-suppressor gene region. Alterations in this region have been associated with the Beckwith-Wiedemann syndrome, Wilms tumor, rhabdomyosarcoma, adrenocortical carcinoma, and lung, ovarian, and breast cancer. This gene may play a role in malignancies and disease that involve this region. This gene is oriented in a head-to-tail configuration with the stromal interaction molecule 1 gene (STIM1), with the 3′ end of STIM1 situated 1.6 kb from the 5′ end of this gene. | SP Function: provides the precursors necessary for dna synthesis. | Gene Ontology:
biological process: molecular function: molecular function: cellular component: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H000395_01
Name: Guanine monphosphate synthetase |
Sum Func: In the de novo synthesis of purine nucleotides, IMP is the branch point metabolite at which point the pathway diverges to the synthesis of either guanine or adenine nucleotides. In the guanine nucleotide pathway, there are 2 enzymes involved in converting IMP to GMP, namely IMP dehydrogenase (IMPD1), which catalyzes the oxidation of IMP to XMP, and GMP synthetase, which catalyzes the amination of XMP to GMP. | SP Function: involved in the de novo synthesis of guanine nucleotides which are not only essential for dna and rna synthesis, but also provide gtp, which is involved in a number of cellular processes important for cell division. | Gene Ontology:
molecular function: biological process: molecular function: molecular function: molecular function: biological process: biological process: biological process: molecular function: biological process: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H007908_01
Name: Polymerase (RNA) II (DNA directed) polypeptide K, 7.0kDa |
Sum Func: This gene encodes one of the smallest subunits of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. This subunit is shared by the other two DNA-directed RNA polymerases. | SP Function: dna-dependent rna polymerase catalyzes the transcription of dna into rna using the four ribonucleoside triphosphates as substrates. | Gene Ontology:
molecular function: cellular component: cellular component: molecular function: cellular component: biological process: biological process: biological process: biological process: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002792_01
Name: Xanthine dehydrogenase |
Sum Func: Xanthine dehydrogenase belongs to the group of molybdenum-containing hydroxylases involved in the oxidative metabolism of purines. The enzyme is a homodimer. Xanthine dehydrogenase can be converted to xanthine oxidase by reversible sulfhydryl oxidation or by irreversible proteolytic modification. Defects in xanthine dehydrogenase cause xanthinuria, may contribute to adult respiratory stress syndrome, and may potentiate influenza infection through an oxygen metabolite-dependent mechanism. | SP Function: this enzyme can be converted from the dehydrogenase form (d) to the oxidase form (o) irreversibly by proteolysis or reversibly through the oxidation of sulfhydryl groups. | Gene Ontology:
biological process: molecular function: molecular function: molecular function: molecular function: molecular function: |
BioCarta Pathways:
1: Free Radical Induced Apoptosis |
KEGG Pathways: |
| Unique id : H003146_01
Name: IMP (inosine monophosphate) dehydrogenase 1 |
Sum Func: | SP Function: rate limiting enzyme in the de novo synthesis of guanine nucleotides and therefore is involved in the regulation of cell growth. it may also have a role in the development of malignancy and the growth progression of some tumors. | Gene Ontology:
biological process: biological process: biological process: molecular function: molecular function: molecular function: molecular function: molecular function: biological process: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H007246_01
Name: Phosphodiesterase 6B, cGMP-specific, rod, beta (congenital stationary night blindness 3, autosomal dominant) |
Sum Func: Mice homozygous for the rd mutation display hereditary retinal degeneration which has been considered a model for human retinitis pigmentosa. In affected animals, the retinal rod photoreceptor cells begin degenerating at about postnatal day 8, and by 4 weeks no photoreceptors are left. Farber and Lolley (1974, 1976) [PubMed 4369896] [PubMed 6493] showed that degeneration is preceded by accumulation of cyclic GMP in the retina and is correlated with deficient activity of the rod photoreceptor cGMP-phosphodiesterase. Bennett et al. (1996) [PubMed 8640555] tested the possibility of altering the course of retinal degeneration through subretinal injection of recombinant replication defective adenovirus that contained the murine cDNA for wildtype beta-PDE. Subretinal injection of rd mice was carried out 4 days after birth, before the onset of rd retinal degeneration. Following therapy, beta-PDE transcripts and enzyme activity were detected, and histologic studies revealed that photoreceptor cell death was significantly retarded.[supplied by OMIM] | SP Function: this protein participates in processes of transmission and amplification of the visual signal. necessary for the formation of a functional phosphodiesterase holoenzyme. | Gene Ontology:
molecular function: molecular function: cellular component: biological process: biological process: biological process: |
BioCarta Pathways:
1: Visual Signal Transduction |
KEGG Pathways: |
| Unique id : H007101_01
Name: Polymerase (RNA) II (DNA directed) polypeptide J, 13.3kDa |
Sum Func: This gene encodes a subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. The product of this gene exists as a heterodimer with another polymerase subunit; together they form a core subassembly unit of the polymerase. Two similar genes are located nearby on chromosome 7q11.2 and another similar locus is found on chromosome 7p15. | SP Function: dna-dependent rna polymerase catalyzes the transcription of dna into rna using the four ribonucleoside triphosphates as substrates. | Gene Ontology:
molecular function: cellular component: molecular function: molecular function: cellular component: molecular function: biological process: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003792_01
Name: Polymerase (DNA directed), alpha |
Sum Func: | SP Function: polymerase alpha in a complex with dna primase is a replicative polymerase. | Gene Ontology:
molecular function: molecular function: biological process: molecular function: molecular function: cellular component: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002687_01
Name: Ribonucleotide reductase M2 polypeptide |
Sum Func: Ribonucleotide reductase catalyzes the formation of deoxyribonucleotides from ribonucleotides. It is composed of 2 non-identical subunits, proteins M1 and M2. Synthesis of M2 is regulated in a cell-cycle dependent fashion. | SP Function: provides the precursors necessary for dna synthesis. | Gene Ontology:
biological process: cellular component: biological process: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H001372_01
Name: Adenosine kinase |
Sum Func: This gene encodes adenosine kinase, an abundant enzyme in mammalian tissues. The enzyme catalyzes the transfer of the gamma-phosphate from ATP to adenosine, thereby serving as a regulator of concentrations of both extracellular adenosine and intracellular adenine nucleotides. Adenosine has widespread effects on the cardiovascular, nervous, respiratory, and immune systems and inhibitors of the enzyme could play an important pharmacological role in increasing intravascular adenosine concentrations and acting as anti-inflammatory agents. Alternative splicing results in two transcript variants encoding different isoforms. Both isoforms of the enzyme phosphorylate adenosine with identical kinetics and both require Mg2+ for activity. | SP Function: atp dependent phosphorylation of adenosine and other related nucleoside analogs to monophosphate derivatives. serves as a potential regulator of concentrations of extracellular adenosine and intracellular adenine nucleotides. | Gene Ontology:
molecular function: molecular function: molecular function: biological process: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002686_01
Name: Phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase |
Sum Func: The protein encoded by this gene is a trifunctional polypeptide. It has phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase activity which is required for de novo purine biosynthesis. This enzyme is highly conserved in vertebrates. Alternative splicing of this gene results in two transcript variants encoding different isoforms. | SP Function: | Gene Ontology:
biological process: biological process: molecular function: cellular component: molecular function: molecular function: molecular function: molecular function: biological process: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003507_01
Name: Hypoxanthine phosphoribosyltransferase 1 (Lesch-Nyhan syndrome) |
Sum Func: | SP Function: | Gene Ontology:
biological process: cellular component: molecular function: molecular function: biological process: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H011566_01
Name: Polymerase (DNA directed), beta |
Sum Func: In eukaryotic cells, DNA polymerase beta (POLB) performs base excision repair (BER) required for DNA maintenance, replication, recombination, and drug resistance. Also see POLA (MIM 312040).[supplied by OMIM] | SP Function: repair polymerase. conducts “gap-filling” dna synthesis in a stepwise distributive fashion rather than in a processive fashion as for other dna polymerases. | Gene Ontology:
molecular function: biological process: biological process: molecular function: molecular function: cellular component: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H004544_01
Name: Phosphodiesterase 6C, cGMP-specific, cone, alpha prime |
Sum Func: | SP Function: | Gene Ontology:
molecular function: molecular function: cellular component: biological process: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H000576_01
Name: Phosphoribosylaminoimidazole carboxylase, phosphoribosylaminoimidazole succinocarboxamide synthetase |
Sum Func: | SP Function: | Gene Ontology:
biological process: molecular function: molecular function: molecular function: cellular component: molecular function: biological process: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H000394_01
Name: Deoxycytidine kinase |
Sum Func: Deoxycytidine kinase (DCK) is required for the phosphorylation of several deoxyribonucleosides and their nucleoside analogs. Deficiency of DCK is associated with resistance to antiviral and anticancer chemotherapeutic agents. Conversely, increased deoxycytidine kinase activity is associated with increased activation of these compounds to cytotoxic nucleoside triphosphate derivatives. DCK is clinically important because of its relationship to drug resistance and sensitivity. | SP Function: required for the phosphorylation of several deoxyribonucleosides and certain nucleoside analogs widely employed as antiviral and chemotherapeutic agents. | Gene Ontology:
molecular function: molecular function: molecular function: biological process: cellular component: molecular function: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H010579_01
Name: Guanine deaminase |
Sum Func: The protein encoded by this gene is an enzyme that catalyzes the hydrolytic deamination of guanine, producing xanthine and ammonia. It is also known as a cytosolic regulator of PSD-95 postsynaptic targeting. | SP Function: catalyzes the hydrolytic deamination of guanine, producing xanthine and ammonia (by similarity). | Gene Ontology:
molecular function: molecular function: cellular component: biological process: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H000074_01
Name: Polymerase (DNA directed), delta 2, regulatory subunit 50kDa |
Sum Func: | SP Function: the function of the small subunit is not yet clear. | Gene Ontology:
biological process: molecular function: cellular component: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H005568_01
Name: Phosphodiesterase 4D, cAMP-specific (phosphodiesterase E3 dunce homolog, Drosophila) |
Sum Func: The PDE4D gene is complex and has at least 9 different isoforms that encode functional proteins. These proteins degrade the second messenger cAMP, which is a key signal transduction molecule in multiple cell types, including vascular cells (Dominiczak and McBride, 2003 [PubMed 14517535]).[supplied by OMIM] | SP Function: | Gene Ontology:
molecular function: molecular function: biological process: molecular function: molecular function: cellular component: biological process: biological process: cellular component: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H010908_01
Name: Polymerase (RNA) II (DNA directed) polypeptide E, 25kDa |
Sum Func: This gene encodes the fifth largest subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. This subunit is shared by the other two DNA-directed RNA polymerases and is present in two-fold molar excess over the other polymerase subunits. An interaction between this subunit and a hepatitis virus transactivating protein has been demonstrated, suggesting that interaction between transcriptional activators and the polymerase can occur through this subunit. A pseudogene is located on chromosome 11. | SP Function: dna-dependent rna polymerase catalyzes the transcription of dna into rna using the four ribonucleoside triphosphates as substrates. | Gene Ontology:
molecular function: cellular component: molecular function: cellular component: molecular function: biological process: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H000895_01
Name: Guanylate cyclase 2C (heat stable enterotoxin receptor) |
Sum Func: | SP Function: receptor for the e.coli heat-stable enterotoxin (e.coli enterotoxin markedly stimulates the accumulation of cgmp in mammalian cells expressing gc-c). also activated by the endogenous peptide guanylin. | Gene Ontology:
molecular function: cellular component: biological process: molecular function: cellular component: biological process: molecular function: biological process: molecular function: molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways:
2: Gap junction |
| Unique id : H002612_01
Name: Adenylate cyclase 8 (brain) |
Sum Func: Adenylate cyclase is a membrane bound enzyme that catalyses the formation of cyclic AMP from ATP. The enzymatic activity is under the control of several hormones, and different polypeptides participate in the transduction of the signal from the receptor to the catalytic moiety. Stimulatory or inhibitory receptors (Rs and Ri) interact with G proteins (Gs and Gi) that exhibit GTPase activity and they modulate the activity of the catalytic subunit of the adenylyl cyclase | SP Function: this is a membrane-bound, calcium-inhibitable adenylyl cyclase. may be involved in learning, in memory and in drug dependence. | Gene Ontology:
biological process: molecular function: molecular function: cellular component: biological process: biological process: molecular function: molecular function: cellular component: cellular component: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H006451_01
Name: Polymerase (RNA) II (DNA directed) polypeptide H |
Sum Func: This gene encodes one of the essential subunits of RNA polymerase II that is shared by the other two eukaryotic DNA-directed RNA polymerases, I and III. | SP Function: dna-dependent rna polymerase catalyzes the transcription of dna into rna using the four ribonucleoside triphosphates as substrates. | Gene Ontology:
molecular function: molecular function: cellular component: biological process: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H016370_01
Name: Polymerase (RNA) II (DNA directed) polypeptide I, 14.5kDa |
Sum Func: This gene encodes a subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. This subunit, in combination with two other polymerase subunits, forms the DNA binding domain of the polymerase, a groove in which the DNA template is transcribed into RNA. The product of this gene has two zinc finger motifs with conserved cysteines and the subunit does possess zinc binding activity. | SP Function: dna-dependent rna polymerase catalyzes the transcription of dna into rna using the four ribonucleoside triphosphates as substrates. | Gene Ontology:
cellular component: molecular function: biological process: cellular component: biological process: biological process: molecular function: biological process: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H007868_01
Name: Polymerase (RNA) I polypeptide B, 128kDa |
Sum Func: | SP Function: dna-dependent rna polymerase catalyzes the transcription of dna into rna using the four ribonucleoside triphosphates as substrates. rna polymerase i is essentially used to transcribe ribosomal dna units. | Gene Ontology:
molecular function: molecular function: cellular component: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H005570_01
Name: Polymerase (RNA) II (DNA directed) polypeptide B, 140kDa |
Sum Func: This gene encodes the second largest subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. This subunit, in combination with at least two other polymerase subunits, forms a structure within the polymerase that maintains contact in the active site of the enzyme between the DNA template and the newly synthesized RNA. | SP Function: dna-dependent rna polymerase catalyzes the transcription of dna into rna using the four ribonucleoside triphosphates as substrates. | Gene Ontology:
molecular function: cellular component: molecular function: cellular component: biological process: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H001616_01
Name: Guanylate cyclase 1, soluble, beta 3 |
Sum Func: Soluble guanylate cyclase (sGC), a heterodimeric protein consisting of an alpha and a beta subunit, catalyzes the conversion of GTP to the second messenger cGMP and functions as the main receptor for nitric oxide and nitrovasodilator drugs (Zabel et al., 1998 [PubMed 9742212]).[supplied by OMIM] | SP Function: | Gene Ontology:
biological process: biological process: cellular component: molecular function: cellular component: molecular function: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways:
2: Gap junction |
| Unique id : H008768_01
Name: Polymerase (RNA) II (DNA directed) polypeptide A, 220kDa |
Sum Func: This gene encodes the largest subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. The product of this gene contains a carboxy terminal domain composed of heptapeptide repeats that are essential for polymerase activity. These repeats contain serine and threonine residues that are phosphorylated in actively transcribing RNA polymerase. In addition, this subunit, in combination with several other polymerase subunits, forms the DNA binding domain of the polymerase, a groove in which the DNA template is transcribed into RNA. | SP Function: dna-dependent rna polymerase catalyzes the transcription of dna into rna using the four ribonucleoside triphosphates as substrates. | Gene Ontology:
molecular function: molecular function: cellular component: cellular component: molecular function: cellular component: molecular function: biological process: biological process: biological process: biological process: molecular function: |
BioCarta Pathways:
1: CARM1 and Regulation of the Estrogen Receptor 2: Repression of Pain Sensation by the Transcriptional Regulator DREAM 3: Chromatin Remodeling by hSWI/SNF ATP-dependent Complexes 4: The information-processing pathway at the IFN-beta enhancer 5: Nuclear receptors coordinate the activities of chromatin remodeling complexes and coactivators to facilitate initiation of transcription in carcinoma cells 6: Telomeres, Telomerase, Cellular Aging, and Immortality |
KEGG Pathways: |
| Unique id : H006464_01
Name: Polymerase (RNA) II (DNA directed) polypeptide L, 7.6kDa |
Sum Func: This gene encodes a subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. The product of this gene contains four conserved cysteines characteristic of an atypical zinc-binding domain. Like its counterpart in yeast, this subunit may be shared by the other two DNA-directed RNA polymerases. | SP Function: | Gene Ontology:
molecular function: cellular component: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H001195_01
Name: Adenylate cyclase 7 |
Sum Func: This gene encodes a membrane-bound adenylate cyclase that catalyses the formation of cyclic AMP from ATP and is inhibitable by calcium. The product of this gene is a member of the adenylyl cyclase class-4/guanylyl cyclase enzyme family that is characterized by the presence of twelve membrane-spanning domains in its sequences. | SP Function: this is a membrane-bound, calcium-inhibitable adenylyl cyclase. | Gene Ontology:
molecular function: biological process: molecular function: cellular component: biological process: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways:
3: Gap junction |
| Unique id : H002833_01
Name: Adenylate cyclase 6 |
Sum Func: This gene encodes adenylate cyclase 6, which is a membrane-associated enzyme and catalyzes the formation of the secondary messenger cyclic adenosine monophosphate (cAMP). The expression of this gene is found in normal thyroid and brain tissues, as well as some tumors; and its expression is significantly higher in one hyperfunctioning thyroid tumor than in normal thyroid tissue. Alternative splicing generates 2 transcript variants. | SP Function: this is a membrane-bound, calcium-inhibitable adenylyl cyclase (by similarity). | Gene Ontology:
molecular function: biological process: molecular function: cellular component: biological process: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways:
3: Gap junction |
| Unique id : H002572_01
Name: Non-metastatic cells 2, protein (NM23B) expressed in |
Sum Func: | SP Function: acts as a transcriptional activator of the c-myc gene; binds dna nonspecifically (ref.3). | Gene Ontology:
molecular function: biological process: biological process: biological process: molecular function: biological process: biological process: biological process: molecular function: cellular component: biological process: molecular function: molecular function: |
BioCarta Pathways:
1: Endocytotic role of NDK, Phosphins and Dynamin 2: Granzyme A mediated Apoptosis Pathway |
KEGG Pathways: |
| Unique id : H002590_01
Name: Adenylate cyclase 2 (brain) |
Sum Func: This gene encodes a member of the family of adenylate cyclases, which are membrane-associated enzymes that catalyze the formation of the secondary messenger cyclic adenosine monophosphate (cAMP). This enzyme is insensitive to Ca(2+)/calmodulin, and is stimulated by the G protein beta and gamma subunit complex. It is expressed in brain. | SP Function: this is a membrane-bound, calmodulin-insensitive adenylyl cyclase. | Gene Ontology:
molecular function: molecular function: biological process: biological process: molecular function: cellular component: cellular component: biological process: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways:
3: Gap junction |
| Unique id : H002195_01
Name: Non-metastatic cells 1, protein (NM23A) expressed in |
Sum Func: NME1 was identified because of its reduced mRNA transcript levels in highly metastatic cells. NME1 encodes the ‘A’ isoform of nucleoside diphosphate kinase (NDK). NDK exists as a hexamer composed of the ‘A’ (NME1) and ‘B’ (encoded by NME2) isoforms. Mutations in NME1 have been identified in aggressive neuroblastomas. Two transcript variants encoding different isoforms have been found for this gene. | SP Function: major role in the synthesis of nucleoside triphosphates other than atp. | Gene Ontology:
molecular function: molecular function: biological process: molecular function: biological process: biological process: molecular function: molecular function: molecular function: biological process: biological process: biological process: molecular function: molecular function: cellular component: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H007289_01
Name: Insulin-like growth factor binding protein 7 |
Sum Func: | SP Function: binds igf-i and igf-ii with a relatively low affinity. stimulates prostacyclin (pgi2) production. | Gene Ontology:
cellular component: molecular function: biological process: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H005402_01
Name: Fragile histidine triad gene |
Sum Func: This gene, a member of the histidine triad gene family, encodes a diadenosine 5′,5”’-P1,P3-triphosphate hydrolase involved in purine metabolism. The gene encompasses the common fragile site FRA3B on chromosome 3, where carcinogen-induced damage can lead to translocations and aberrant transcripts of this gene. In fact, aberrant transcripts from this gene have been found in about half of all esophageal, stomach, and colon carcinomas. | SP Function: cleaves a-5′-ppp-5’a to yield amp and adp. possible tumor suppressor for specific tissues. | Gene Ontology:
molecular function: biological process: cellular component: molecular function: molecular function: molecular function: biological process: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H000621_01
Name: Adenylosuccinate lyase |
Sum Func: Adenylosuccinate lyase is involved in both de novo synthesis of purines and formation of adenosine monophosphate from inosine monophosphate. It catalyzes two reactions in AMP biosynthesis: the removal of a fumarate from succinylaminoimidazole carboxamide (SAICA) ribotide to give aminoimidazole carboxamide ribotide (AICA) and removal of fumarate from adenylosuccinate to give AMP. Adenylosuccinase deficiency results in succinylpurinemic autism, psychomotor retardation, and , in some cases, growth retardation associated with muscle wasting and epilepsy. | SP Function: | Gene Ontology:
molecular function: molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H007645_01
Name: Phosphodiesterase 4A, cAMP-specific (phosphodiesterase E2 dunce homolog, Drosophila) |
Sum Func: | SP Function: | Gene Ontology:
molecular function: molecular function: molecular function: molecular function: molecular function: cellular component: cellular component: biological process: biological process: biological process: cellular component: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002400_01
Name: CASP2 and RIPK1 domain containing adaptor with death domain |
Sum Func: The protein encoded by this gene is a death domain (CARD/DD)-containing protein and has been shown to induce cell apoptosis. Through its CARD domain, this protein interacts with, and thus recruits, caspase 2/ICH1 to the cell death signal transduction complex that includes tumor necrosis factor receptor 1 (TNFR1A), RIPK1/RIP kinase, and numbers of other CARD domain-containing proteins. | SP Function: apoptotic adaptor molecule specific for caspase-2 and fasl/tnf receptor-interacting protein rip. in the presence of rip and tradd, raidd recruites caspase-2 to the tnfr-1 signaling complex. | Gene Ontology:
biological process: cellular component: molecular function: biological process: biological process: |
BioCarta Pathways:
1: HIV-I Nef: negative effector of Fas and TNF 2: TNF/Stress Related Signaling 3: TNFR1 Signaling Pathway |
KEGG Pathways: |
| Unique id : H002503_01
Name: TRAF family member-associated NFKB activator |
Sum Func: The TRAF (tumor necrosis factor receptor-associated factor) family of proteins associate with and transduce signals from members of the tumor necrosis factor receptor superfamily. The protein encoded by this gene is found in the cytoplasm and can bind to TRAF1, TRAF2, or TRAF3, thereby inhibiting TRAF function by sequestering the TRAFs in a latent state in the cytoplasm. For example, the protein encoded by this gene can block TRAF2 binding to LMP1, the Epstein-Barr virus transforming protein, and inhibit LMP1-mediated NF-kappa-B activation. Two transcript variants encoding different isoforms have been found for this gene. | SP Function: acts as a regulator of traf function by maintaining them in a latent state. overexpression inhibits traf2-mediated nf- kappa-b activation signaled by cd40, tnfr1 and tnfr2. blocks traf2 binding to lmp1 and inhibits lmp1-mediated nf-kappa-b activation. | Gene Ontology:
molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H000042_01
Name: Inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma |
Sum Func: Familial incontinentia pigmenti (IP) is a genodermatosis that segregates as an X-linked dominant disorder and is usually lethal prenatally in males (The International Incontinentia Pigmenti Consortium, 2000 [PubMed 10839543]). In affected females it causes highly variable abnormalities of the skin, hair, nails, teeth, eyes, and central nervous system. The prominent skin signs occur in 4 classic cutaneous stages: perinatal inflammatory vesicles, verrucous patches, a distinctive pattern of hyperpigmentation, and dermal scarring. Cells expressing the mutated X chromosome are eliminated selectively around the time of birth, so females with IP exhibit extremely skewed X-inactivation. Familial incontinentia pigmenti is caused by mutations in the NEMO gene and is here referred to as IP2, or ‘classical’ incontinentia pigmenti. Sporadic incontinentia pigmenti, the so-called IP1, which maps to Xp11, is categorized as hypomelanosis of Ito (MIM 300337).[supplied by OMIM] | SP Function: regulatory subunit part of the ikk-signalosome complex activation. also considered to be a mediator for tax activation of nf-kappa-b. could be implicated in nf-kappa-b-mediated protection from cytokine toxicity. | Gene Ontology:
biological process: biological process: biological process: cellular component: biological process: molecular function: |
BioCarta Pathways:
1: CD40L Signaling Pathway 2: NF-kB Signaling Pathway 3: TNF/Stress Related Signaling 4: TNFR2 Signaling Pathway 5: Toll-Like Receptor Pathway |
KEGG Pathways: |
| Unique id : H002720_01
Name: Caspase 2, apoptosis-related cysteine protease (neural precursor cell expressed, developmentally down-regulated 2) |
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. The proteolytic cleavage of this protein is induced by a variety of apoptotic stimuli. Alternative splicing of this gene results in four transcript variants which encode different isoforms. | SP Function: involved in the activation cascade of caspases responsible for apoptosis execution. might function by either activating some proteins required for cell death or inactivating proteins necessary for cell survival. | Gene Ontology:
biological process: molecular function: molecular function: molecular function: molecular function: molecular function: cellular component: molecular function: biological process: biological process: |
BioCarta Pathways:
1: HIV-I Nef: negative effector of Fas and TNF 2: Caspase Cascade in Apoptosis 3: TNF/Stress Related Signaling 4: TNFR1 Signaling Pathway |
KEGG Pathways: |
| Unique id : H010960_01
Name: ATPase, H+ transporting, lysosomal 9kDa, V0 subunit e |
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 possibly part of the V0 subunit. Since two nontranscribed pseudogenes have been found in dog, it is possible that the localization to chromosome 2 for this gene by radiation hybrid mapping is representing a pseudogene. Genomic mapping puts the chromosomal location on 5q35.3. | SP Function: vacuolar atpase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells. | Gene Ontology:
biological process: molecular function: molecular function: molecular function: cellular component: biological process: cellular component: molecular function: |
BioCarta Pathways: | KEGG Pathways:
3: Epithelial cell signaling in Helicobacter pylori infection |
| Unique id : H005994_01
Name: ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B, isoform 2 |
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 one of two V1 domain B subunit isoforms and is the only B isoform highly expressed in osteoclasts. A pseudogene has been found for this gene. | SP Function: non catalytic subunit of the peripheral v1 complex of vacuolar atpase. v-atpase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells. | Gene Ontology:
molecular function: biological process: cellular component: biological process: molecular function: molecular function: molecular function: molecular function: cellular component: |
BioCarta Pathways: | KEGG Pathways:
3: Epithelial cell signaling in Helicobacter pylori infection |
| Unique id : H000956_01
Name: ATPase, H+/K+ exchanging, beta polypeptide |
Sum Func: The protein encoded by this gene belongs to a family of P-type cation-transporting ATPases. The gastric H+, K+-ATPase is a heterodimer consisting of a high molecular weight catalytic alpha subunit and a smaller but heavily glycosylated beta subunit. This enzyme is a proton pump that catalyzes the hydrolysis of ATP coupled with the exchange of H(+) and K(+) ions across the plasma membrane. It is also responsible for gastric acid secretion. This gene encodes the beta subunit of the gastric H+, K+-ATPase. | SP Function: | Gene Ontology:
molecular function: cellular component: biological process: biological process: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H006153_01
Name: ATPase, H+ transporting, lysosomal 14kDa, V1 subunit F |
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 the V1 domain F subunit protein. | SP Function: subunit of the peripheral v1 complex of vacuolar atpase essential for assembly or catalytic function. v-atpase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells. | Gene Ontology:
biological process: molecular function: molecular function: molecular function: cellular component: biological process: cellular component: |
BioCarta Pathways: | KEGG Pathways:
3: Epithelial cell signaling in Helicobacter pylori infection |
| Unique id : H001510_01
Name: NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase) |
Sum Func: The protein encoded by this gene belongs to the complex I 75 kDa subunit family. Mammalian complex I is composed of 45 different subunits. It locates at the mitochondrial inner membrane. This protein has NADH dehydrogenase activity and oxidoreductase activity. It transfers electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. This protein is the largest subunit of complex I and it is a component of the iron-sulfur (IP) fragment of the enzyme. It may form part of the active site crevice where NADH is oxidized. Mutations in this gene are associated with complex I deficiency. | SP Function: this is the largest subunit of complex i and it is a component of the iron-sulfur (ip) fragment of the enzyme. it may form part of the active site crevice where nadh is oxidized. | Gene Ontology:
molecular function: molecular function: molecular function: biological process: molecular function: cellular component: biological process: cellular component: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002949_01
Name: Succinate dehydrogenase complex, subunit A, flavoprotein (Fp) |
Sum Func: Complex II of the respiratory chain, which is specifically involved in the oxidation of succinate, carries electrons from FADH to CoQ. The complex is composed of four nuclear-encoded subunits and is localized in the mitochondrial inner membrane. The 70 kDa flavoprotein subunit contains a characteristic cysteine triplet. Mutations in the flavoprotein subunit gene have been linked to a form of mitochondrial respiratory chain deficiency known as Leigh syndrome. | SP Function: | Gene Ontology:
biological process: molecular function: biological process: molecular function: cellular component: molecular function: molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H008343_01
Name: ATP synthase, H+ transporting, mitochondrial F1 complex, epsilon subunit |
Sum Func: This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel consists of three main subunits (a, b, c). This gene encodes the epsilon subunit of the catalytic core. Two pseudogenes of this gene are located on chromosomes 4 and 13. | SP Function: this is the smallest of the 5 chains of the enzymatic component (coupling factor cf(1)) of the mitochondrial atpase complex (by similarity). | Gene Ontology:
biological process: molecular function: molecular function: molecular function: cellular component: biological process: cellular component: cellular component: |
BioCarta Pathways: | KEGG Pathways:
3: Epithelial cell signaling in Helicobacter pylori infection |
| Unique id : H001573_01
Name: NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa |
Sum Func: | SP Function: transfer of electrons from nadh to the respiratory chain. the immediate electron acceptor for the enzyme is believed to be ubiquinone. component of the flavoprotein-sulfur (fp) fragment of the enzyme. | Gene Ontology:
molecular function: molecular function: molecular function: cellular component: biological process: cellular component: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H009190_01
Name: ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E isoform 1 |
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 one of two V1 domain E subunit proteins and is found ubiquitously. Pseudogenes for this gene have been found in the genome. | SP Function: subunit of the peripheral v1 complex of vacuolar atpase essential for assembly or catalytic function. v-atpase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells. | Gene Ontology:
biological process: molecular function: molecular function: molecular function: cellular component: biological process: cellular component: |
BioCarta Pathways: | KEGG Pathways:
3: Epithelial cell signaling in Helicobacter pylori infection |
| Unique id : H009093_01
Name: Zinc finger protein 183 (RING finger, C3HC4 type) |
Sum Func: | SP Function: | Gene Ontology:
biological process: molecular function: biological process: cellular component: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H001563_01
Name: NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5, 13kDa |
Sum Func: The human NDUFA5 gene codes for the B13 subunit of complex I of the respiratory chain, which transfers electrons from NADH to ubiquinone. The high degree of conservation of NDUFA5 extending to plants and fungi indicates its functional significance in the enzyme complex. The protein localizes to the inner mitochondrial membrane as part of the 7 component-containing, water soluble “iron-sulfur protein” (IP) fraction of complex I, although its specific role is unknown. It is assumed to undergo post-translational removal of the initiator methionine and N-acetylation of the next amino acid. The predicted secondary structure is primarily alpha helix, but the carboxy-terminal half of the protein has high potential to adopt a coiled-coil form. The amino-terminal part contains a putative beta sheet rich in hydrophobic amino acids that may serve as mitochondrial import signal. Related pseudogenes have also been identified on four other chromosomes. | SP Function: transfer of electrons from nadh to the respiratory chain. the immediate electron acceptor for the enzyme is believed to be ubiquinone. this is a component of the iron-sulfur (ip) fragment of the enzyme. | Gene Ontology:
molecular function: molecular function: biological process: cellular component: cellular component: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H016294_01
Name: Cytochrome c oxidase subunit VIIc |
Sum Func: Cytochrome c oxidase (COX), the terminal component of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. This component is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes subunit VIIc, which shares 87% and 85% amino acid sequence identity with mouse and bovine COX VIIc, respectively, and is found in all tissues. A pseudogene COX7CP1 has been found on chromosome 13. | SP Function: this protein is one of the nuclear-coded polypeptide chains of cytochrome c oxidase, the terminal oxidase in mitochondrial electron transport. | Gene Ontology:
molecular function: biological process: biological process: cellular component: cellular component: cellular component: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H004736_01
Name: Cytochrome c oxidase subunit VIIb |
Sum Func: Cytochrome c oxidase (COX), the terminal component of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. This component is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes subunit VIIb, which is highly similar to bovine COX VIIb protein and is found in all tissues. This gene may have several pseudogenes on chromosomes 1, 2, 20 and 22, respectively. | SP Function: this protein is one of the nuclear-coded polypeptide chains of cytochrome c oxidase, the terminal oxidase in mitochondrial electron transport. | Gene Ontology:
molecular function: biological process: cellular component: cellular component: cellular component: cellular component: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H007379_01
Name: Ubiquinol-cytochrome c reductase core protein I |
Sum Func: | SP Function: this is a component of the ubiquinol-cytochrome c reductase complex (complex iii or cytochrome b-c1 complex), which is part of the mitochondrial respiratory chain. this protein may mediate formation of the complex between cytochromes c and c1. | Gene Ontology:
biological process: biological process: cellular component: cellular component: cellular component: biological process: molecular function: molecular function: |
BioCarta Pathways:
1: Electron Transport Reaction in Mitochondria |
KEGG Pathways: |
| Unique id : H007321_01
Name: Cytochrome c oxidase subunit Va |
Sum Func: Cytochrome c oxidase (COX) is the terminal enzyme of the mitochondrial respiratory chain. It is a multi-subunit enzyme complex that couples the transfer of electrons from cytochrome c to molecular oxygen and contributes to a proton electrochemical gradient across the inner mitochondrial membrane. The complex consists of 13 mitochondrial- and nuclear-encoded subunits. The mitochondrially-encoded subunits perform the electron transfer of proton pumping activities. The functions of the nuclear-encoded subunits are unknown but they may play a role in the regulation and assembly of the complex. This gene encodes the nuclear-encoded subunit Va of the human mitochondrial respiratory chain enzyme. A pseudogene COX5AP1 has been found in chromosome 14q22. | SP Function: this is the heme a-containing chain of cytochrome c oxidase, the terminal oxidase in mitochondrial electron transport. | Gene Ontology:
molecular function: biological process: molecular function: cellular component: cellular component: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H001069_01
Name: ATPase, H+ transporting, lysosomal V0 subunit a isoform 1 |
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 gene encodes one of three A subunit proteins and the encoded protein is associated with clathrin-coated vesicles. The occurrence of splice variants encoding different protein products has been reported, but the full-length natures of these transcripts have not been determined. | SP Function: required for assembly and activity of the vacuolar atpase. potential role in differential targeting and regulation of the enzyme for a specific organelle (by similarity). | Gene Ontology:
molecular function: cellular component: cellular component: biological process: |
BioCarta Pathways: | KEGG Pathways:
3: Epithelial cell signaling in Helicobacter pylori infection |
| Unique id : H009563_01
Name: Ubiquinol-cytochrome c reductase binding protein |
Sum Func: The ubiquinone-binding protein is a nucleus-encoded component of ubiquinol-cytochrome c oxidoreductase (Complex III) in the mitochondrial respiratory chain and plays an important role in electron transfer as a complex of ubiquinone and QP-C. Complex III consists of 11 subunits, only 1 (cytochrome b; MIM 516020) being encoded by the mitochondrial DNA.[supplied by OMIM] | SP Function: this is a component of the ubiquinol-cytochrome c reductase complex (complex iii or cytochrome b-c1 complex), which is part of the mitochondrial respiratory chain. this component is involved in redox-linked proton pumping. | Gene Ontology:
biological process: biological process: cellular component: cellular component: biological process: cellular component: biological process: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H010619_01
Name: Ubiquinol-cytochrome c reductase core protein II |
Sum Func: | SP Function: this is a component of the ubiquinol-cytochrome c reductase complex (complex iii or cytochrome b-c1 complex), which is part of the mitochondrial respiratory chain. the core protein 2 is required for the assembly of the complex. | Gene Ontology:
biological process: biological process: molecular function: cellular component: cellular component: biological process: molecular function: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H001705_01
Name: ATPase, Cu++ transporting, beta polypeptide (Wilson disease) |
Sum Func: The protein encoded by this gene belongs to the family of P-type cation transport ATPases. This gene encodes a polypeptide that acts as a membrane copper-transport protein. Defects in this gene are the cause of Wilson disease (WD). WD is an autosomal recessive disorder of copper metabolism in which copper cannot be incorporated into ceruloplasmin in liver, and cannot be excreted from the liver into the bile. Alternatively spliced transcript variants encoding different isoforms have been identified. | SP Function: involved in the export of copper out of the cells, such as the efflux of hepatic copper into the bile. | Gene Ontology:
molecular function: cellular component: molecular function: biological process: molecular function: molecular function: molecular function: cellular component: molecular function: biological process: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H004597_01
Name: Fanconi anemia, complementation group C |
Sum Func: The protein encoded by this gene delays the onset of apoptosis and promotes homologous recombination repair of damaged DNA. Mutations in this gene result in Fanconi anemia. | 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. | Gene Ontology:
biological process: cellular component: biological process: molecular function: cellular component: biological process: |
BioCarta Pathways:
1: Role of BRCA1, BRCA2 and ATR in Cancer Susceptibility 2: BRCA1-dependent Ub-ligase activity |
KEGG Pathways: |
| Unique id : H014388_01
Name: Fanconi anemia, complementation group D2 |
Sum Func: | SP Function: | Gene Ontology:
biological process: cellular component: molecular function: |
BioCarta Pathways:
1: Role of BRCA1, BRCA2 and ATR in Cancer Susceptibility 2: BRCA1-dependent Ub-ligase activity |
KEGG Pathways: |
| Unique id : H003834_01
Name: Integrin, beta 5 |
Sum Func: | SP Function: integrin alpha-v/beta-5 is a receptor for fibronectin. it recognizes the sequence r-g-d it its ligand. | Gene Ontology:
biological process: biological process: cellular component: cellular component: biological process: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003132_01
Name: Nicotinamide nucleotide transhydrogenase |
Sum Func: NNT is a pyridine nucleotide transhydrogenase (EC 1.6.1.1). These integral inner mitochondrial membrane proteins are part of the energy-transfer system of the respiratory chain and catalyze the transfer of a hydride ion between nicotinamide adenine dinucleotide, NAD(H), and oxidized nicotinamide dinucleotide phosphate, NADP(H).[supplied by OMIM] | SP Function: the transhydrogenation between nadh and nadp is coupled to respiration and atp hydrolysis and functions as a proton pump across the membrane. | Gene Ontology:
molecular function: molecular function: biological process: molecular function: biological process: cellular component: cellular component: cellular component: molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H009928_01
Name: Kruppel-like factor 2 (lung) |
Sum Func: | SP Function: binds to the caccc box in the beta-globin gene promoter and activates transcription (by similarity). | Gene Ontology:
cellular component: biological process: molecular function: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H009527_01
Name: Vesicle-associated membrane protein 8 (endobrevin) |
Sum Func: Synaptobrevins/VAMPs, syntaxins, and the 25-kD synaptosomal-associated protein SNAP25 are the main components of a protein complex involved in the docking and/or fusion of synaptic vesicles with the presynaptic membrane. The protein encoded by this gene is a member of the vesicle-associated membrane protein (VAMP)/synaptobrevin family. It is associated with the perinuclear vesicular structures of the early endocytic compartment. It has been found that VAMP8 interacts specifically with the soluble NSF-attachment protein (alpha-SNAP), most likely through an VAMP8-containing SNARE complex. | SP Function: | Gene Ontology:
cellular component: cellular component: biological process: cellular component: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002555_01
Name: Junction plakoglobin |
Sum Func: This gene encodes a major cytoplasmic protein which is the only known constituent common to submembranous plaques of both desmosomes and intermediate junctions. This protein forms distinct complexes with cadherins and desmosomal cadherins and is a member of the catenin family since it contains a distinct repeating amino acid motif called the armadillo repeat. Mutation in this gene has been associated with Naxos disease. Alternative splicing occurs in this gene; however, not all transcripts have been fully described. | SP Function: common junctional plaque protein. the membrane- associated plaques are architectural elements in an important strategic position to influence the arrangement and function of both the cytoskeleton and the cells within the tissue. the presence of plakoglobin in both the desmosomes and in the intermediate junctions suggests that it plays a central role in the structure and function of submembranous plaques. | Gene Ontology:
biological process: molecular function: cellular component: cellular component: cellular component: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H008117_01
Name: KIT ligand |
Sum Func: This gene encodes the ligand of the tyrosine-kinase receptor encoded by the KIT locus. This ligand is a pleiotropic factor that acts in utero in germ cell and neural cell development, and hematopoiesis, all believed to reflect a role in cell migration. In adults, it functions pleiotropically, while mostly noted for its continued requirement in hematopoiesis. Two transcript variants encoding different isoforms have been found for this gene. | SP Function: stimulates the proliferation of mast cells. able to augment the proliferation of both myeloid and lymphoid hematopoietic progenitors in bone marrow culture. mediates also cell-cell adhesion. acts synergistically with other cytokines, probably interleukins. | Gene Ontology:
biological process: biological process: molecular function: cellular component: biological process: molecular function: biological process: molecular function: |
BioCarta Pathways:
1: Regulation of BAD phosphorylation 2: Erythrocyte Differentiation Pathway 3: IL 17 Signaling Pathway 4: CDK Regulation of DNA Replication 5: Melanocyte Development and Pigmentation Pathway |
KEGG Pathways: |
| Unique id : H000698_01
Name: Plakophilin 1 (ectodermal dysplasia/skin fragility syndrome) |
Sum Func: This gene encodes a member of the arm-repeat (armadillo) and plakophilin gene families. Plakophilin proteins contain numerous armadillo repeats, localize to cell desmosomes and nuclei, and participate in linking cadherins to intermediate filaments in the cytoskeleton. This protein may be involved in molecular recruitment and stabilization during desmosome formation. Mutations in this gene have been associated with the ectodermal dysplasia/skin fragility syndrome. | SP Function: seems to play a role in junctional plaques. | Gene Ontology:
biological process: cellular component: cellular component: molecular function: cellular component: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H001214_01
Name: Coagulation factor III (thromboplastin, tissue factor) |
Sum Func: This gene encodes coagulation factor III which is a cell surface glycoprotein. This factor enables cells to initiate the blood coagulation cascades, and it functions as the high-affinity receptor for the coagulation factor VII. The resulting complex provides a catalytic event that is responsible for initiation of the coagulation protease cascades by specific limited proteolysis. Unlike the other cofactors of these protease cascades, which circulate as nonfunctional precursors, this factor is a potent initiator that is fully functional when expressed on cell surfaces. There are 3 distinct domains of this factor: extracellular, transmembrane, and cytoplasmic. This protein is the only one in the coagulation pathway for which a congenital deficiency has not been described. | SP Function: initiates blood coagulation by forming a complex with circulating factor vii or viia. the [tf:viia] complex activates factors ix or x by specific limited protolysis. tf plays a role in normal hemostasis by initiating the cell-surface assembly and propagation of the coagulation protease cascade. | Gene Ontology:
biological process: molecular function: biological process: cellular component: cellular component: |
BioCarta Pathways:
1: Extrinsic Prothrombin Activation Pathway |
KEGG Pathways: |
| Unique id : H002859_01
Name: Cadherin 1, type 1, E-cadherin (epithelial) |
Sum Func: This gene is a classical cadherin from the cadherin superfamily. The encoded protein is a calcium dependent cell-cell adhesion glycoprotein comprised of five extracellular cadherin repeats, a transmembrane region and a highly conserved cytoplasmic tail. Mutations in this gene are correlated with gastric, breast, colorectal, thyroid and ovarian cancer. Loss of function is thought to contribute to progression in cancer by increasing proliferation, invasion, and/or metastasis. The ectodomain of this protein mediates bacterial adhesion to mammalian cells and the cytoplasmic domain is required for internalization. Identified transcript variants arise from mutation at consensus splice sites. | 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. e-cadherin has a potent invasive suppressor role. it is also a ligand for integrin alpha- e/beta-7. | Gene Ontology:
molecular function: biological process: biological process: biological process: cellular component: cellular component: molecular function: |
BioCarta Pathways:
1: SUMOylation as a mechanism to modulate CtBP-dependent gene responses 2: Downregulated of MTA-3 in ER-negative Breast Tumors 3: TGF beta signaling pathway |
KEGG Pathways: |
| Unique id : H010580_01
Name: Adenosylmethionine decarboxylase 1 |
Sum Func: The product of this gene is an important intermediate enzyme in polyamine biosynthesis. The polyamines spermine, spermidine, and putrescine are low-molecular-weight aliphatic amines essential for cellular proliferation and tumor promotion. This gene spans 22 kb comprised of 9 exons and 8 introns and encoding two species of mRNA of 2.1 and 3.4-3.6 kb originating from the use of two different polyadenylation signals. The pro-protein is an approximate 38.3 kDa which is known to undergo processing at amino acid 68 to yield two fragments of 32- and 6-kDa. | SP Function: | Gene Ontology:
molecular function: cellular component: molecular function: biological process: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H014033_01
Name: Dolichyl-phosphate mannosyltransferase polypeptide 2, regulatory subunit |
Sum Func: Dolichol-phosphate mannose (Dol-P-Man) serves as a donor of mannosyl residues on the lumenal side of the endoplasmic reticulum (ER). Lack of Dol-P-Man results in defective surface expression of GPI-anchored proteins. Dol-P-Man is synthesized from GDP-mannose and dolichol-phosphate on the cytosolic side of the ER by the enzyme dolichyl-phosphate mannosyltransferase. The protein encoded by this gene is a hydrophobic protein that contains 2 predicted transmembrane domains and a putative ER localization signal near the C terminus. This protein associates with DPM1 in vivo and is required for the ER localization and stable expression of DPM1 and also enhances the binding of dolichol-phosphate to DPM1. Two alternatively spliced transcript variants have been found for this gene. | SP Function: regulates the biosynthesis of dolichol phosphate- mannose. essential for the er localization and stable expression of dpm1. | Gene Ontology:
cellular component: biological process: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002724_01
Name: Nerve growth factor receptor (TNFR superfamily, member 16) |
Sum Func: Nerve growth factor receptor contains an extracellular domain containing four 40-amino acid repeats with 6 cysteine residues at conserved positions followed by a serine/threonine-rich region, a single transmembrane domain, and a 155-amino acid cytoplasmic domain. The cysteine-rich region contains the nerve growth factor binding domain. | SP Function: low affinity receptor which can bind to ngf, bdnf, nt-3, and nt-4. can mediate cell survival as well as cell death of neural cells. | Gene Ontology:
biological process: cellular component: biological process: molecular function: biological process: molecular function: |
BioCarta Pathways:
1: Phosphorylation of MEK1 by cdk5/p35 down regulates the MAP kinase pathway 2: Erk1/Erk2 Mapk Signaling pathway 3: Nerve growth factor pathway (NGF) |
KEGG Pathways: |
| Unique id : H002751_01
Name: Nerve growth factor, beta polypeptide |
Sum Func: | SP Function: nerve growth factor is important for the development and maintenance of the sympathetic and sensory nervous systems. it stimulates division and differentiation of sympathetic and embryonic sensory neurons. | Gene Ontology:
biological process: biological process: molecular function: molecular function: |
BioCarta Pathways:
1: BTG family proteins and cell cycle regulation 2: Phosphorylation of MEK1 by cdk5/p35 down regulates the MAP kinase pathway 3: Erk1/Erk2 Mapk Signaling pathway 4: Nerve growth factor pathway (NGF) 5: Trka Receptor Signaling Pathway |
KEGG Pathways: |
| Unique id : H000268_01
Name: SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 |
Sum Func: The protein encoded by this gene is a member of the SWI/SNF family of proteins and is similar to the brahma protein of Drosophila. Members of this family have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI, which is required for transcriptional activation of genes normally repressed by chromatin. In addition, this protein can bind BRCA1, as well as regulate the expression of the tumorigenic protein CD44. Alternatively spliced transcripts have been found for this gene, but their full-length natures have not been determined. | SP Function: transcriptional coactivator cooperating with nuclear hormone receptors to potentiate transcriptional activation. | Gene Ontology:
molecular function: molecular function: molecular function: molecular function: cellular component: biological process: molecular function: molecular function: |
BioCarta Pathways:
1: Chromatin Remodeling by hSWI/SNF ATP-dependent Complexes 2: Control of Gene Expression by Vitamin D Receptor |
KEGG Pathways: |
| Unique id : H000211_01
Name: Glioma-associated oncogene homolog (zinc finger protein) |
Sum Func: This gene encodes a protein which is a member of the Kruppel family of zinc finger proteins. The function of this gene has not been determined; however, it may play a role in normal development gene transcription. Mouse mutation studies indicate possible involvement in human foregut malformation. | SP Function: may regulate the transcription of specific genes during normal development. may play a role in craniofacial development and digital development, as well as development of the central nervous system and gastrointestinal tract. implicated in the transduction of shh signal (by similarity). | Gene Ontology:
molecular function: molecular function: biological process: biological process: cellular component: biological process: biological process: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003009_01
Name: V-myb myeloblastosis viral oncogene homolog (avian)-like 2 |
Sum Func: The protein encoded by this gene, a member of the MYB family of transcription factor genes, is a nuclear protein involved in cell cycle progression. The encoded protein is phosphorylated by cyclin A/cyclin-dependent kinase 2 during the S-phase of the cell cycle and possesses both activator and repressor activities. It has been shown to activate the cell division cycle 2, cyclin D1, and insulin-like growth factor-binding protein 5 genes. Transcript variants may exist for this gene, but their full-length natures have not been determined. | SP Function: transcription factor involved in the regulation of cell survival, proliferation, and differentiation. transactivates the expression of the clu gene. | Gene Ontology:
biological process: cellular component: biological process: cellular component: biological process: biological process: molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002934_01
Name: Jun D proto-oncogene |
Sum Func: The protein encoded by this intronless gene is a member of the JUN family, and a functional component of the AP1 transcription factor complex. It has been proposed to protect cells from p53-dependent senescence and apoptosis. Alternate translation initiation site usage results in the production of different isoforms. | SP Function: binds an ap-1 site and upon cotransfection stimulates the activity of a promoter that bears an ap-1 site. | Gene Ontology:
molecular function: cellular component: cellular component: biological process: molecular function: |
BioCarta Pathways:
1: B Cell Survival Pathway 2: FOSB gene expression and drug abuse |
KEGG Pathways: |
| Unique id : H008525_01
Name: Pre-B-cell leukemia transcription factor 1 |
Sum Func: | SP Function: this nonactivating protein which could be a repressor; binds the sequence 5′-atcaatcaa-3′. it is converted into a potent transcriptional activator by the (1;19) translocation. may have a role in steroidogenesis and subsequently sexual development and differentiation. | Gene Ontology:
biological process: biological process: biological process: biological process: cellular component: molecular function: molecular function: biological process: biological process: biological process: molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H001295_01
Name: T-cell leukemia, homeobox 1 |
Sum Func: | SP Function: controls the genesis of the spleen. binds to the dna sequence 5′-ggcggtaagtgg-3′. | Gene Ontology:
biological process: biological process: cellular component: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003894_01
Name: Checkpoint suppressor 1 |
Sum Func: Checkpoint suppressor 1 is a member of the forkhead/winged helix transcription factor family. Checkpoints are eukaryotic DNA damage-inducible cell cycle arrests at G1 and G2. Checkpoint suppressor 1 suppresses multiple yeast checkpoint mutations including mec1, rad9, rad53 and dun1 by activating a MEC1-independent checkpoint pathway. | SP Function: probable transcriptional activator that may be involved in dna damage-inducible cell cycle arrests (checkpoints). | Gene Ontology:
biological process: biological process: cellular component: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H015267_01
Name: Myogenic factor 3 |
Sum Func: This gene product belongs to the basic helix-loop-helix family of transcription factors and the myogenic factors subfamily. It is involved in muscle cell differentiation, and is essential for repair of damaged tissue. It activates its own transcription which may stabilize commitment to myogenesis. | SP Function: involved in muscle differentiation (myogenic factor). induces fibroblasts to differentiate into myoblasts. activates muscle-specific promoters. interacts with and is inhibited by the twist protein. this interaction probably involves the basic domains of both proteins (by similarity). | Gene Ontology:
molecular function: molecular function: biological process: biological process: biological process: cellular component: cellular component: biological process: biological process: biological process: molecular function: |
BioCarta Pathways:
1: Signal Dependent Regulation of Myogenesis by Corepressor MITR 2: Control of skeletal myogenesis by HDAC & calcium/calmodulin-dependent kinase (CaMK) |
KEGG Pathways: |
| Unique id : H004149_01
Name: Core-binding factor, beta subunit |
Sum Func: The protein encoded by this gene is the beta subunit of a heterodimeric core-binding transcription factor belonging to the PEBP2/CBF transcription factor family which master-regulates a host of genes specific to hematopoiesis (e.g., RUNX1) and osteogenesis (e.g., RUNX2). The beta subunit is a non-DNA binding regulatory subunit; it allosterically enhances DNA binding by alpha subunit as the complex binds to the core site of various enhancers and promoters, including murine leukemia virus, polyomavirus enhancer, T-cell receptor enhancers and GM-CSF promoters. Alternative splicing generates two mRNA variants, each encoding a distinct carboxyl terminus. In some cases, a pericentric inversion of chromosome 16 [inv(16)(p13q22)] produces a chimeric transcript consisting of the N terminus of core-binding factor beta in a fusion with the C-terminal portion of the smooth muscle myosin heavy chain 11. This chromosomal rearrangement is associated with acute myeloid leukemia of the M4Eo subtype. Two transcript variants encoding different isoforms have been found for this gene. | SP Function: cbf binds to the core site, 5′-pygpyggt-3′, of a number of enhancers and promoters, including murine leukemia virus, polyomavirus enhancer, t-cell receptor enhancers, lck, il-3 and gm-csf promoters. cbfb enhances dna binding by runx1. | Gene Ontology:
molecular function: biological process: cellular component: molecular function: molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002021_01
Name: V-maf musculoaponeurotic fibrosarcoma oncogene homolog G (avian) |
Sum Func: | SP Function: since they lack a putative transactivation domain, the small mafs behave as transcriptional repressors when they dimerize among themselves. however, they seem to serve as transcriptional activators by dimerizing with other (usually larger) basic-zipper proteins and recruiting them to specific dna-binding sites. small maf proteins heterodimerize with fos and may act as competitive repressors of the nf-e2 transcription factor. transcription factor, component of erythroid-specific transcription factor nf- e2. activates globin gene expression when associated with nf-e2. | Gene Ontology:
cellular component: cellular component: biological process: molecular function: biological process: |
BioCarta Pathways:
1: Oxidative Stress Induced Gene Expression Via Nrf2 |
KEGG Pathways: |
| Unique id : H001297_01
Name: Pre-B-cell leukemia transcription factor 1 |
Sum Func: | SP Function: this nonactivating protein which could be a repressor; binds the sequence 5′-atcaatcaa-3′. it is converted into a potent transcriptional activator by the (1;19) translocation. may have a role in steroidogenesis and subsequently sexual development and differentiation. | Gene Ontology:
biological process: biological process: biological process: biological process: cellular component: molecular function: molecular function: biological process: biological process: biological process: molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H009824_01
Name: Apoptosis antagonizing transcription factor |
Sum Func: The protein encoded by this gene was identified on the basis of its interaction with MAP3K12/DLK, a protein kinase known to be involved in the induction of cell apoptosis. This gene product contains a leucine zipper, which is a characteristic motif of transcription factors, and was shown to exhibit strong transactivation activity when fused to Gal4 DNA binding domain. Overexpression of this gene interfered with MAP3K12 induced apoptosis. | SP Function: | Gene Ontology:
biological process: cellular component: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003656_01
Name: Ets variant gene 6 (TEL oncogene) |
Sum Func: This gene encodes an ETS family transcription factor. The product of this gene contains two functional domains: a N-terminal pointed (PNT) domain that is involved in the protein-protein interactions with itself and other proteins, and a C-terminal DNA-binding domain. Gene knockout studies in mice suggest that it is required for hematopoiesis and maintenance of the developing vascular network. This gene is known to be involved in a large number of chromosomal rearrangements associated with leukemia and congenital fibrosarcoma. | SP Function: transcriptional repressor; binds to the dna sequence 5′- ccggaagt-3′. | Gene Ontology:
biological process: cellular component: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003579_01
Name: TGFB inducible early growth response |
Sum Func: | SP Function: transcriptional repressor involved in the regulation of cell growth. inhibits cell growth. binds to the consensus sequence 5′-ggtgtg-3′. | Gene Ontology:
biological process: biological process: biological process: biological process: cellular component: biological process: biological process: molecular function: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H000209_01
Name: Ets variant gene 3 |
Sum Func: | SP Function: | Gene Ontology:
cellular component: biological process: molecular function: |
BioCarta Pathways:
1: METS affect on Macrophage Differentiation |
KEGG Pathways: |
| Unique id : H003019_01
Name: Pre-B-cell leukemia transcription factor 2 |
Sum Func: This gene encodes a ubiquitously expressed member of the TALE/PBX homeobox family. It was identified by its similarity to a homeobox gene which is involved in t(1;19) translocation in acute pre-B-cell leukemias. This protein is a transcriptional activator which binds to the TLX1 promoter. The gene is located within the major histocompatibility complex (MHC) on chromosome 6. | SP Function: transcriptional activator that binds the sequence 5′- atcaatcaa-3′. | Gene Ontology:
biological process: cellular component: biological process: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002518_01
Name: Zinc finger protein, subfamily 1A, 1 (Ikaros) |
Sum Func: | SP Function: binds and activates the enhancer (delta-a element) of the cd3-delta gene. functions in the specification and the maturation of the t lymphocyte. also interacts with a critical control element in the tdt (terminal deoxynucleotidyltransferase) promoter as well as with the promoters for other genes expressed during early stages of b and t cell development. | Gene Ontology:
molecular function: biological process: cellular component: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H001305_01
Name: Core-binding factor, runt domain, alpha subunit 2; translocated to, 1; cyclin D-related |
Sum Func: The protein encoded by this gene is a putative zinc finger transcription factor and oncoprotein. In acute myeloid leukemia, especially in the M2 subtype, the t(8;21)(q22;q22) translocation is one of the most frequent karyotypic abnormalities. The translocation produces a chimeric gene made up of the 5′-region of the RUNX1 gene fused to the 3′-region of this gene. The chimeric protein is thought to associate with the nuclear corepressor/histone deacetylase complex to block hematopoietic differentiation. Several transcript variants encoding multiple isoforms have been found for this gene. | SP Function: putative transcription factor. | Gene Ontology:
biological process: biological process: cellular component: biological process: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H000354_01
Name: D4, zinc and double PHD fingers family 2 |
Sum Func: The protein encoded by this gene is a member of the d4 domain family, characterized by a zinc finger-like structural motif. This protein functions as a transcription factor which is necessary for the apoptotic response following deprivation of survival factors. It likely serves a regulatory role in rapid hematopoietic cell growth and turnover. This gene is considered a candidate gene for multiple endocrine neoplasia type I, an inherited cancer syndrome involving multiple parathyroid, enteropancreatic, and pituitary tumors. | SP Function: | Gene Ontology:
molecular function: biological process: biological process: cellular component: biological process: biological process: cellular component: molecular function: molecular function: |
BioCarta Pathways:
1: B Cell Survival Pathway |
KEGG Pathways: |
| Unique id : H000210_01
Name: GLI-Kruppel family member GLI3 (Greig cephalopolysyndactyly syndrome) |
Sum Func: This gene encodes a protein which belongs to the C2H2-type zinc finger proteins subclass of the Gli family. They are characterized as a transcription factor that binds to DNA through zinc finger motifs. These motifs have conserved H-C links. Gli family zinc finger proteins are mediators of Sonic hedgehog (Shh) signaling. The protein encoded by this gene localizes in the cytoplasm and activates patched Drosophila homolog (PTCH) gene expression. It is also thought to play a role during embryogenesis. The encoded protein is associated with several phenotypes- Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome, preaxial polydactyly type IV, postaxial polydactyly types A1 and B. | SP Function: plays a role in limb and brain development. implicated in the transduction of shh signal (by similarity). | Gene Ontology:
cellular component: biological process: molecular function: cellular component: cellular component: biological process: biological process: biological process: molecular function: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H009950_01
Name: Checkpoint suppressor 1 |
Sum Func: Checkpoint suppressor 1 is a member of the forkhead/winged helix transcription factor family. Checkpoints are eukaryotic DNA damage-inducible cell cycle arrests at G1 and G2. Checkpoint suppressor 1 suppresses multiple yeast checkpoint mutations including mec1, rad9, rad53 and dun1 by activating a MEC1-independent checkpoint pathway. | SP Function: probable transcriptional activator that may be involved in dna damage-inducible cell cycle arrests (checkpoints). | Gene Ontology:
biological process: biological process: cellular component: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H006522_01
Name: GNAS complex locus |
Sum Func: This gene has a highly complex imprinted expression pattern. It encodes maternally, paternally, and biallelically expressed proteins which are derived from alternatively spliced transcripts with alternate 5′ exons. Each of the upstream exons is within a differentially methylated region, commonly found in imprinted genes. However, the close proximity (14 kb) of two oppositely expressed promoter regions is unusual. In addition, one of the alternate 5′ exons introduces a frameshift relative to the other transcripts, resulting in one isoform which is structurally unrelated to the others. An antisense transcript exists, and may regulate imprinting in this region. Mutations in this gene result in pseudohypoparathyroidism type 1a (PHP1a), which has an atypical autosomal dominant inheritance pattern requiring maternal transmission for full penetrance. There are RefSeqs representing four transcript variants of this gene. Other transcript variants including four additional exons have been described; however, their full length sequences have not been determined. | SP Function: | Gene Ontology:
biological process: biological process: molecular function: molecular function: molecular function: biological process: cellular component: cellular component: cellular component: biological process: biological process: molecular function: biological process: biological process: |
BioCarta Pathways:
1: CCR3 signaling in Eosinophils 2: Activation of Csk by cAMP-dependent Protein Kinase Inhibits Signaling through the T Cell Receptor 3: Attenuation of GPCR Signaling 4: Roles of ß-arrestin-dependent Recruitment of Src Kinases in GPCR Signaling 5: ß-arrestins in GPCR Desensitization 6: Role of ß-arrestins in the activation and targeting of MAP kinases 7: Cystic fibrosis transmembrane conductance regulator (CFTR) and beta 2 adrenergic receptor (b2AR) pathway 8: ChREBP regulation by carbohydrates and cAMP 9: Transcription factor CREB and its extracellular signals 10: Regulation of Spermatogenesis by CREM 11: Erk1/Erk2 Mapk Signaling pathway 12: Corticosteroids and cardioprotection 13: Signaling Pathway from G-Protein Families 14: Activation of cAMP-dependent protein kinase, PKA 15: How Progesterone Initiates the Oocyte Maturation 16: Phospholipase C-epsilon pathway 17: Ion Channels and Their Functional Role in Vascular Endothelium |
KEGG Pathways: |
| Unique id : H001062_01
Name: N-acylsphingosine amidohydrolase (acid ceramidase) 1 |
Sum Func: This gene encodes a heterodimeric protein consisting of a nonglycosylated alpha subunit and a glycosylated beta subunit that is cleaved to the mature enzyme posttranslationally. The encoded protein catalyzes the synthesis and degradation of ceramide into sphingosine and fatty acid. Mutations in this gene have been associated with a lysosomal storage disorder known as Farber disease. Two transcript variants encoding distinct isoforms have been identified for this gene. | SP Function: hydrolyzes the sphingolipid ceramide into sphingosine and free fatty acid. | Gene Ontology:
molecular function: biological process: biological process: molecular function: cellular component: |
BioCarta Pathways:
1: Activation of Csk by cAMP-dependent Protein Kinase Inhibits Signaling through the T Cell Receptor 2: Thrombin signaling and protease-activated receptors 3: Roles of ß-arrestin-dependent Recruitment of Src Kinases in GPCR Signaling 4: ß-arrestins in GPCR Desensitization 5: Regulation of BAD phosphorylation 6: Role of ß-arrestins in the activation and targeting of MAP kinases 7: Cystic fibrosis transmembrane conductance regulator (CFTR) and beta 2 adrenergic receptor (b2AR) pathway 8: ChREBP regulation by carbohydrates and cAMP 9: Transcription factor CREB and its extracellular signals 10: Regulation of Spermatogenesis by CREM 11: Phospholipids as signaling intermediaries 12: Signaling Pathway from G-Protein Families 13: Activation of cAMP-dependent protein kinase, PKA 14: Multiple antiapoptotic pathways from IGF-1R signaling lead to BAD phosphorylation 15: How Progesterone Initiates the Oocyte Maturation 16: Phospholipase C-epsilon pathway 17: Ion Channels and Their Functional Role in Vascular Endothelium |
KEGG Pathways: |
| Unique id : H002346_01
Name: Phospholipase C, beta 2 |
Sum Func: | SP Function: the production of the second messenger molecules diacylglycerol (dag) and inositol 1,4,5-trisphosphate (ip3) is mediated by activated phosphatidylinositol-specific phospholipase c enzymes. | Gene Ontology:
molecular function: biological process: biological process: molecular function: biological process: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways:
1: Inositol phosphate metabolism 3: Phosphatidylinositol signaling system 6: Gap junction 7: Natural killer cell mediated cytotoxicity 8: Fc epsilon RI signaling pathway 9: Leukocyte transendothelial migration 13: Epithelial cell signaling in Helicobacter pylori infection |
| Unique id : H003337_01
Name: B-factor, properdin |
Sum Func: This gene encodes complement factor B, a component of the alternative pathway of complement activation. Factor B circulates in the blood as a single chain polypeptide. Upon activation of the alternative pathway, it is cleaved by complement factor D yielding the non catalytic chain Ba and the catalytic subunit Bb. The active subunit Bb is a serine protease which associates with C3b to form the alternative pathway C3 convertase. Bb is involved in the proliferation of preactivated B lymphocytes, while Ba inhibits their proliferation. This gene localizes to the major histocompatibility complex (MHC) class III region on chromosome 6. This cluster includes several genes involved in regulation of the immune reaction. The polyadenylation site of this gene is 421 bp from the 5′ end of the gene for complement component 2. | SP Function: factor b which is part of the alternate pathway of the complement system is cleaved by factor d into 2 fragments: ba and bb. bb, a serine protease, then combines with complement factor 3b to generate the c3 or c5 convertase. it has also been implicated in proliferation and differentiation of preactivated b lymphocytes, rapid spreading of peripheral blood monocytes, stimulation of lymphocyte blastogenesis and lysis of erythrocytes. ba inhibits the proliferation of preactivated b lymphocytes. | Gene Ontology:
molecular function: molecular function: biological process: molecular function: cellular component: molecular function: biological process: molecular function: |
BioCarta Pathways:
1: Alternative Complement Pathway 2: Complement Pathway |
KEGG Pathways: |
| Unique id : H000897_01
Name: Inositol 1,4,5-triphosphate receptor, type 2 |
Sum Func: | SP Function: receptor for inositol 1,4,5-trisphosphate, a second messenger that mediates the release of intracellular calcium. | Gene Ontology:
molecular function: biological process: molecular function: biological process: cellular component: molecular function: molecular function: cellular component: cellular component: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H007337_01
Name: Inositol 1,4,5-triphosphate receptor, type 3 |
Sum Func: | SP Function: receptor for inositol 1,4,5-trisphosphate, a second messenger that mediates the release of intracellular calcium. | Gene Ontology:
molecular function: biological process: biological process: cellular component: molecular function: cellular component: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H014981_01
Name: Phospholipase C, beta 4 |
Sum Func: The protein encoded by this gene catalyzes the formation of inositol 1,4,5-trisphosphate and diacylglycerol from phosphatidylinositol 4,5-bisphosphate. This reaction uses calcium as a cofactor and plays an important role in the intracellular transduction of many extracellular signals in the retina. Two transcript variants encoding different isoforms have been found for this gene. | SP Function: the production of the second messenger molecules diacylglycerol (dag) and inositol 1,4,5-trisphosphate (ip3) is mediated by activated phosphatidylinositol-specific phospholipase c enzymes. this form has a role in retina signal transduction. | Gene Ontology:
molecular function: molecular function: biological process: biological process: biological process: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways:
1: Inositol phosphate metabolism 3: Phosphatidylinositol signaling system 6: Gap junction 7: Natural killer cell mediated cytotoxicity 8: Fc epsilon RI signaling pathway 9: Leukocyte transendothelial migration 13: Epithelial cell signaling in Helicobacter pylori infection |
| Unique id : H003441_01
Name: Breakpoint cluster region |
Sum Func: A reciprocal translocation between chromosomes 22 and 9 produces the Philadelphia chromosome, which is often found in patients with chronic myelogenous leukemia. The chromosome 22 breakpoint for this translocation is located within the BCR gene. The translocation produces a fusion protein which is encoded by sequence from both BCR and ABL, the gene at the chromosome 9 breakpoint. Although the BCR-ABL fusion protein has been extensively studied, the function of the normal BCR gene product is not clear. The protein has serine/threonine kinase activity and is a GTPase-activating protein for p21rac. | SP Function: gtpase-activating protein for rac1 and cdc42. promotes the exchange of rac or cdc42-bound gdp by gtp, thereby activating them. displays serine/threonine kinase activity. | Gene Ontology:
molecular function: molecular function: biological process: cellular component: molecular function: biological process: biological process: biological process: molecular function: molecular function: molecular function: |
BioCarta Pathways:
1: Inhibition of Cellular Proliferation by Gleevec 2: Integrin 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 : H002547_01
Name: Lipoprotein lipase |
Sum Func: LPL encodes lipoprotein lipase, which is expressed in heart, muscle, and adipose tissue. LPL functions as a homodimer, and has the dual functions of triglyceride hydrolase and ligand/bridging factor for receptor-mediated lipoprotein uptake. Severe mutations that cause LPL deficiency result in type I hyperlipoproteinemia, while less extreme mutations in LPL are linked to many disorders of lipoprotein metabolism. | SP Function: the primary function of this lipase is the hydrolysis of triglycerides of circulating chylomicrons and very low density lipoproteins (vldl). the enzyme functions in the presence of apolipoprotein c-2 on the luminal surface of vascular endothelium. | Gene Ontology:
biological process: cellular component: biological process: molecular function: molecular function: biological process: molecular function: molecular function: |
BioCarta Pathways:
1: Low-density lipoprotein (LDL) pathway during atherogenesis 2: Mechanism of Gene Regulation by Peroxisome Proliferators via PPARa(alpha) 3: Role of PPAR-gamma Coactivators in Obesity and Thermogenesis 4: Visceral Fat Deposits and the Metabolic Syndrome |
KEGG Pathways: |
| Unique id : H001374_01
Name: PPAR binding protein |
Sum Func: The activation of gene transcription is a multistep process that is triggered by factors that recognize transcriptional enhancer sites in DNA. These factors work with co-activators to direct transcriptional initiation by the RNA polymerase II apparatus. The protein encoded by this gene is a subunit of the CRSP (cofactor required for SP1 activation) complex, which, along with TFIID, is required for efficient activation by SP1. This protein is also a component of other multisubunit complexes e.g. thyroid hormone receptor-(TR-) associated proteins which interact with TR and facilitate TR function on DNA templates in conjunction with initiation factors and cofactors. It also regulates p53-dependent apoptosis and it is essential for adipogenesis. This protein is known to have the ability to self-oligomerize. | SP Function: plays a role in transcriptional coactivation. | Gene Ontology:
molecular function: molecular function: biological process: molecular function: cellular component: cellular component: molecular function: biological process: molecular function: biological process: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002187_01
Name: Nuclear receptor subfamily 2, group F, member 1 |
Sum Func: | SP Function: coup (chicken ovalbumin upstream promoter) transcription factor binds to the ovalbumin promoter and, in conjunction with another protein (s300-ii) stimulates initiation of transcription. binds to both direct repeats and palindromes of the 5′-aggtca-3′ motif. | Gene Ontology:
molecular function: cellular component: biological process: biological process: molecular function: molecular function: molecular function: |
BioCarta Pathways:
1: Mechanism of Gene Regulation by Peroxisome Proliferators via PPARa(alpha) |
KEGG Pathways: |
| Unique id : H008186_01
Name: Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2 |
Sum Func: | SP Function: interferes with the binding of transcription factors hif-1a and stat2 to p300/cbp. | Gene Ontology:
cellular component: molecular function: biological process: molecular function: |
BioCarta Pathways:
1: Mechanism of Gene Regulation by Peroxisome Proliferators via PPARa(alpha) |
KEGG Pathways: |
| Unique id : H003198_01
Name: Fatty acid binding protein 1, liver |
Sum Func: FABP1 encodes the fatty acid binding protein found in liver. Fatty acid binding proteins are a family of small, highly conserved, cytoplasmic proteins that bind long-chain fatty acids and other hydrophobic ligands. FABP1 and FABP6 (the ileal fatty acid binding protein) are also able to bind bile acids. It is thought that FABPs roles include fatty acid uptake, transport, and metabolism. | SP Function: this protein binds free fatty acids and their coenzyme a derivatives, bilirubin, and some other small molecules in the cytoplasm; it may be involved in intracellular lipid transport. | Gene Ontology:
biological process: cellular component: biological process: molecular function: molecular function: biological process: biological process: |
BioCarta Pathways:
1: Mechanism of Gene Regulation by Peroxisome Proliferators via PPARa(alpha) |
KEGG Pathways: |
| Unique id : H002871_01
Name: Apolipoprotein A-I |
Sum Func: APOA1 promotes cholesterol efflux from tissues to the liver for excretion. Apolipoprotein A-I is the major protein component of high density lipoprotein (HDL) in the plasma. Synthesized in the liver and small intestine, it consists of two identical chains of 77 amino acids; an 18-amino acid signal peptide is removed co-translationally and a 6-amino acid propeptide is cleaved post-translationally. Variation in the latter step, in addition to modifications leading to so-called isoforms, is responsible for some of the polymorphism observed. APOA1 is a cofactor for lecithin cholesterolacyltransferase (LCAT) which is responsible for the formation of most plasma cholesteryl esters. The APOA1, APOC3 and APOA4 genes are closely linked in both rat and human genomes. The A-I and A-IV genes are transcribed from the same strand, while the C-III gene is transcribed convergently in relation to A-I. Defects in the apolipoprotein A-1 gene are associated with HDL deficiency and Tangier disease. | SP Function: participates in the reverse transport of cholesterol from tissues to the liver for excretion by promoting cholesterol efflux from tissues and by acting as a cofactor for the lecithin cholesterol acyltransferase (lcat). | Gene Ontology:
biological process: biological process: cellular component: molecular function: molecular function: biological process: molecular function: biological process: |
BioCarta Pathways:
1: Mechanism of Gene Regulation by Peroxisome Proliferators via PPARa(alpha) |
KEGG Pathways: |
| Unique id : H013590_01
Name: Nuclear receptor co-repressor 1 |
Sum Func: This gene encodes a protein that mediates ligand-independent transcription repression of thyroid-hormone and retinoic-acid receptors by promoting chromatin condensation and preventing access of the transcription machinery. It is part of a complex which also includes histone deacetylases and transcriptional regulators similar to the yeast protein Sin3p. This gene is located between the Charcot-Marie-Tooth and Smith-Magenis syndrome critical regions on chromosome 17. An alternatively spliced transcript variant has been described, but its full length sequence has not been determined. | SP Function: mediates the transcriptional repression activity of some nuclear receptors by promoting chromatin condensation, thus preventing access of the basal transcription. | Gene Ontology:
molecular function: cellular component: molecular function: biological process: molecular function: biological process: |
BioCarta Pathways:
1: Mechanism of Gene Regulation by Peroxisome Proliferators via PPARa(alpha) 2: Control of Gene Expression by Vitamin D Receptor |
KEGG Pathways: |
| Unique id : H000174_01
Name: Heat shock 90kDa protein 1, alpha |
Sum Func: | SP Function: molecular chaperone. has atpase activity (by similarity). | Gene Ontology:
molecular function: molecular function: molecular function: cellular component: biological process: molecular function: molecular function: biological process: biological process: molecular function: biological process: biological process: biological process: biological process: molecular function: molecular function: |
BioCarta Pathways:
1: Ahr Signal Transduction Pathway 2: AKT Signaling Pathway 3: Corticosteroids and cardioprotection 4: Hypoxia-Inducible Factor in the Cardiovascular System 5: Actions of Nitric Oxide in the Heart 6: Hypoxia and p53 in the Cardiovascular system 7: Mechanism of Gene Regulation by Peroxisome Proliferators via PPARa(alpha) 8: Telomeres, Telomerase, Cellular Aging, and Immortality |
KEGG Pathways: |
| Unique id : H002882_01
Name: Nuclear receptor co-repressor 2 |
Sum Func: | SP Function: mediates the transcriptional repression activity of some nuclear receptors by promoting chromatin condensation, thus preventing access of the basal transcription. | Gene Ontology:
molecular function: cellular component: biological process: molecular function: |
BioCarta Pathways:
1: CARM1 and Regulation of the Estrogen Receptor 2: Map Kinase Inactivation of SMRT Corepressor 3: METS affect on Macrophage Differentiation 4: Mechanism of Gene Regulation by Peroxisome Proliferators via PPARa(alpha) 5: Nuclear receptors coordinate the activities of chromatin remodeling complexes and coactivators to facilitate initiation of transcription in carcinoma cells |
KEGG Pathways: |
| Unique id : H007099_01
Name: Carnitine palmitoyltransferase 1B (muscle) |
Sum Func: The protein encoded by this gene, a member of the carnitine/choline acetyltransferase family, is the rate-controlling enzyme of the long-chain fatty acid beta-oxidation pathway in muscle mitochondria. This enzyme is required for the net transport of long-chain fatty acyl-CoAs from the cytoplasm into the mitochondria. At least four transcript variants encoding two different isoforms have been found for this gene, and one of the transcripts is bicistronic. In addition, two of the transcripts utilize alternative polyadenylation signals. | SP Function: | Gene Ontology:
molecular function: molecular function: biological process: biological process: cellular component: cellular component: cellular component: molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002035_01
Name: FAT tumor suppressor homolog 1 (Drosophila) |
Sum Func: This gene is an ortholog of the Drosophila fat gene, which encodes a tumor suppressor essential for controlling cell proliferation during Drosophila development. The gene product is a member of the cadherin superfamily, a group of integral membrane proteins characterized by the presence of cadherin-type repeats. In addition to containing 34 tandem cadherin-type repeats, the gene product has five epidermal growth factor (EGF)-like repeats and one laminin A-G domain. This gene is expressed at high levels in a number of fetal epithelia. Its product probably functions as an adhesion molecule and/or signaling receptor, and is likely to be important in developmental processes and cell communication. Transcript variants derived from alternative splicing and/or alternative promoter usage exist, but they have not been fully described. | SP Function: could function as a cell-adhesion protein. | Gene Ontology:
molecular function: biological process: biological process: biological process: cellular component: biological process: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H008686_01
Name: DUTP pyrophosphatase |
Sum Func: | SP Function: this enzyme is involved in nucleotide metabolism: it produces dump, the immediate precursor of thymidine nucleotides and it decreases the intracellular concentration of dutp so that uracil cannot be incorporated into DNA. | Gene Ontology:
biological process: molecular function: biological process: molecular function: molecular function: cellular component: biological process: cellular component: |
BioCarta Pathways:
1: Mechanism of Gene Regulation by Peroxisome Proliferators via PPARa(alpha) |
KEGG Pathways: |
| Unique id : H003875_01
Name: Hydroxysteroid (17-beta) dehydrogenase 4 |
Sum Func: | SP Function: bifunctional enzyme acting on the peroxisomal beta- oxidation pathway for fatty acids. catalyzes the formation of 3- ketoacyl-coa intermediates from both straight-chain and 2-methyl- branched-chain fatty acids. | Gene Ontology:
molecular function: molecular function: biological process: molecular function: molecular function: biological process: molecular function: cellular component: molecular function: molecular function: |
BioCarta Pathways:
1: Mechanism of Gene Regulation by Peroxisome Proliferators via PPARa(alpha) |
KEGG Pathways:
1: Fatty acid elongation in mitochondria 3: Valine, leucine and isoleucine degradation |
| Unique id : H015634_01
Name: Heat shock 90kDa protein 1, alpha |
Sum Func: | SP Function: molecular chaperone. has atpase activity (by similarity). | Gene Ontology:
molecular function: molecular function: molecular function: cellular component: biological process: molecular function: molecular function: biological process: biological process: molecular function: biological process: biological process: biological process: biological process: molecular function: molecular function: |
BioCarta Pathways:
1: Ahr Signal Transduction Pathway 2: AKT Signaling Pathway 3: Corticosteroids and cardioprotection 4: Hypoxia-Inducible Factor in the Cardiovascular System 5: Actions of Nitric Oxide in the Heart 6: Hypoxia and p53 in the Cardiovascular system 7: Mechanism of Gene Regulation by Peroxisome Proliferators via PPARa(alpha) 8: Telomeres, Telomerase, Cellular Aging, and Immortality |
KEGG Pathways: |
| Unique id : H004913_01
Name: Mitochondrial ribosomal protein L11 |
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 39S subunit protein. Sequence analysis identified three transcript variants that encode different isoforms. Pseudogenes corresponding to this gene are found on chromosomes 5q and 12q. | SP Function: | Gene Ontology:
cellular component: cellular component: biological process: cellular component: molecular function: |
BioCarta Pathways:
1: Mechanism of Gene Regulation by Peroxisome Proliferators via PPARa(alpha) |
KEGG Pathways: |
| Unique id : H006305_01
Name: O-linked N-acetylglucosamine (GlcNAc) transferase (UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase) |
Sum Func: O-linked N-acetylglucosamine (O-GlcNAc) transferase (OGT) catalyzes the addition of a single N-acetylglucosamine in O-glycosidic linkage to serine or threonine residues. Since both phosphorylation and glycosylation compete for similar serine or threonine residues, the two processes may compete for sites, or they may alter the substrate specificity of nearby sites by steric or electrostatic effects. The protein contains nine tetratricopeptide repeats and a putative bipartite nuclear localization signal. Three alternatively spliced transcript variants encoding distinct isoforms have been reported. | SP Function: addition of nucleotide-activated sugars directly onto the polypeptide through O-glycosidic linkage with the hydroxyl of serine or threonine. | Gene Ontology:
biological process: molecular function: cellular component: cellular component: molecular function: biological process: biological process: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H000959_01
Name: Glycophorin C (Gerbich blood group) |
Sum Func: Glycophorin C (GYPC) is an integral membrane glycoprotein. It is a minor species carried by human erythrocytes, but plays an important role in regulating the mechanical stability of red cells. A number of glycophorin C mutations have been described. The Gerbich and Yus phenotypes are due to deletion of exon 3 and 2, respectively. The Webb and Duch antigens, also known as glycophorin D, result from single point mutations of the glycophorin C gene. The glycophorin C protein has very little homology with glycophorins A and B. | SP Function: this protein is a minor sialoglycoprotein in human erythrocyte membranes. the blood group gerbich antigens and receptors for plasmodium falciparum merozoites are most likely located within the extracellular domain. glycophorin c plays an important role in regulating the stability of red cells. | Gene Ontology:
biological process: biological process: cellular component: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H009875_01
Name: Lysosomal-associated multispanning membrane protein-5 |
Sum Func: | SP Function: may have a special functional role during embryogenesis and in adult hematopoietic cells. binds to ubiquitin. | Gene Ontology:
cellular component: cellular component: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H000665_01
Name: Guanylate binding protein 2, interferon-inducible |
Sum Func: Interferons are cytokines that have antiviral effects and inhibit tumor cell proliferation. They induce a large number of genes in their target cells, including those coding for the guanylate-binding proteins (GBPs). GBPs are characterized by their ability to specifically bind guanine nucleotides (GMP, GDP, and GTP). The protein encoded by this gene is a GTPase that converts GTP to GDP and GMP. | SP Function: binds gtp, gdp and gmp. hydrolyzes gtp very efficiently; gdp rather than gmp is the major reaction product. | Gene Ontology:
molecular function: molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H009171_01
Name: GRB2-associated binding protein 2 |
Sum Func: This gene is a member of the GRB2-associated binding protein (GAB) gene family and is similar to the GAB1 gene. These proteins contain pleckstrin homology (PH) domain, and bind SHP2 tyrosine phosphatase and GRB2 adapter protein. They act as adapters for transmitting various signals in response to stimuli through cytokine and growth factor receptors, and T- and B-cell antigen receptors. The protein encoded by this gene is the principal activator of phosphatidylinositol-3 kinase in response to activation of the high affinity IgE receptor. Two alternatively spliced transcripts encoding different isoforms have been described for this gene. | SP Function: | Gene Ontology: | BioCarta Pathways: | KEGG Pathways: |
| Unique id : H012004_01
Name: Dehydrogenase/reductase (SDR family) member 8 |
Sum Func: | SP Function: | Gene Ontology:
biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002047_01
Name: Transforming growth factor, beta receptor III (betaglycan, 300kDa) |
Sum Func: | SP Function: binds to tgf-beta. could be involved in capturing and retaining tgf-beta for presentation to the signaling receptors. | Gene Ontology:
biological process: molecular function: cellular component: molecular function: biological process: biological process: |
BioCarta Pathways:
1: ALK in cardiac myocytes 2: CTCF: First Multivalent Nuclear Factor 3: Role of Tob in T-cell activation |
KEGG Pathways: |
| Unique id : H001037_01
Name: Proteoglycan 1, secretory granule |
Sum Func: This gene encodes a protein best known as a hematopoietic cell granule proteoglycan. Proteoglycans stored in the secretory granules of many hematopoietic cells also contain a protease-resistant peptide core, which may be important for neutralizing hydrolytic enzymes. This encoded protein was found to be associated with the macromolecular complex of granzymes and perforin, which may serve as a mediator of granule-mediated apoptosis. | SP Function: may neutralize hydrolytic enzymes. | Gene Ontology: | BioCarta Pathways: | KEGG Pathways: |
| Unique id : H014142_01
Name: Solute carrier family 24 (sodium/potassium/calcium exchanger), member 3 Chromosome: 20 |
Sum Func: | SP Function: | Gene Ontology:
molecular function: biological process: cellular component: biological process: biological process: molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H006288_01
Name: AE binding protein 1 |
Sum Func: The adipocyte enhancer binding protein 1 is a transcriptional repressor with carboxypeptidase (CP) activity. This protein binds to a regulatory sequence, adipocyte enhancer 1 (AE-1), located in the proximal promoter region of the adipose P2 (aP2) gene, which encodes the adipocyte fatty-acid binding protein. It is characterized as a member of the regulatory B-like CP family. This protein seems to be activated by a novel mechanism, whereby the direct binding of DNA enhances its protease activity. Adipocyte-enhancer binding protein 1 may play a role in differentiated vascular smooth muscle cells. | SP Function: | Gene Ontology:
molecular function: molecular function: biological process: cellular component: biological process: biological process: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H000044_01
Name: Ribosomal protein L31 |
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 L31E family of ribosomal proteins. It is located in the cytoplasm. Higher levels of expression of this gene in familial adenomatous polyps compared to matched normal tissues have been observed. 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: biological process: cellular component: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003123_01
Name: Nicotinamide N-methyltransferase |
Sum Func: | SP Function: catalyzes the n-methylation of nicotinamide and other pyridines to form pyridinium ions. this activity is important for biotransformation of many drugs and xenobiotic compounds. | Gene Ontology:
molecular function: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H000486_01
Name: Interferon induced transmembrane protein 2 (1-8D) |
Sum Func: | SP Function: | Gene Ontology:
biological process: cellular component: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H001954_01
Name: Milk fat globule-EGF factor 8 protein |
Sum Func: | SP Function: medin is the main constituent of aortic medial amyloid. | Gene Ontology:
biological process: biological process: biological process: cellular component: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002959_01
Name: Chemokine (C-C motif) ligand 21 |
Sum Func: This gene is one of several CC cytokine genes clustered on the p-arm of chromosome 9. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. Similar to other chemokines the protein encoded by this gene inhibits hemopoiesis and stimulates chemotaxis. This protein is chemotactic in vitro for thymocytes and activated T cells, but not for B cells, macrophages, or neutrophils. The cytokine encoded by this gene may also play a role in mediating homing of lymphocytes to secondary lymphoid organs. It is a high affinity functional ligand for chemokine receptor 7 (CCR7) that is expressed on T and B lymphocytes and a known receptor for another member of the cytokine family (small inducible cytokine A19). | SP Function: inhibits hemopoiesis and stimulate chemotaxis. chemotactic in vitro for thymocytes and activated t cells, but not for b cells, macrophages, or neutrophils. shows preferential activity towards naive t cells. may play a role in mediating homing of lymphocytes to secondary lymphoid organs. binds to ccr7. | Gene Ontology:
biological process: molecular function: biological process: cellular component: biological process: biological process: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003735_01
Name: Insulin-like growth factor binding protein 5 |
Sum Func: | SP Function: igf-binding proteins prolong the half-life of the igfs and have been shown to either inhibit or stimulate the growth promoting effects of the igfs on cell culture. they alter the interaction of igfs with their cell surface receptors. | Gene Ontology:
biological process: cellular component: molecular function: biological process: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H005384_01
Name: RNA binding motif, single stranded interacting protein 1 |
Sum Func: This gene encodes a member of a small family of proteins which bind single stranded DNA/RNA. These proteins are characterized by the presence of two sets of ribonucleoprotein consensus sequence (RNP-CS) that contain conserved motifs, RNP1 and RNP2, originally described in RNA binding proteins, and required for DNA binding. These proteins have been implicated in such diverse functions as DNA replication, gene transcription, cell cycle progression and apoptosis. Multiple transcript variants, resulting from alternative splicing and encoding different isoforms, have been described. Several of these were isolated by virtue of their binding to either strand of an upstream element of c-myc (MSSPs), or by phenotypic complementation of cdc2 and cdc13 mutants of yeast (scr2), or as a potential human repressor of HIV-1 and ILR-2 alpha promoter transcription (YC1). | SP Function: single-stranded dna binding protein that interacts with the region upstream of the c-myc gene. binds specifically to the dna sequence motif 5′-[at]ct[at][at]t-3′. probably has a role in dna replication. | Gene Ontology:
biological process: biological process: molecular function: molecular function: molecular function: biological process: molecular function: molecular function: cellular component: cellular component: biological process: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H010255_01
Name: Ribosomal protein S17 |
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 40S subunit. The protein belongs to the S17E family of ribosomal proteins. It 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: | Gene Ontology:
molecular function: cellular component: cellular component: biological process: cellular component: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002105_01
Name: Ribosomal protein S3 |
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 40S subunit, where it forms part of the domain where translation is initiated. The protein belongs to the S3P family of ribosomal proteins. Studies of the mouse and rat proteins have demonstrated that the protein has an extraribosomal role as an endonuclease involved in the repair of UV-induced DNA damage. The protein appears to be located in both the cytoplasm and nucleus but not in the nucleolus. Higher levels of expression of this gene in colon adenocarcinomas and adenomatous polyps compared to adjacent normal colonic mucosa have been observed. This gene is co-transcribed with the small nucleolar RNA genes U15A and U15B, which are located in its first and fifth 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:
molecular function: cellular component: cellular component: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H000239_01
Name: Microphthalmia-associated transcription factor |
Sum Func: This gene encodes a transcription factor that contains both basic helix-loop-helix and leucine zipper structural features. It regulates the differentiation and development of melanocytes retinal pigment epithelium and is also responsible for pigment cell-specific transcription of the melanogenesis enzyme genes. Heterozygous mutations in the this gene cause auditory-pigmentary syndromes, such as Waardenburg syndrome type 2 and Tietz syndrome. Alternatively spliced transcript variants encoding different isoforms have been identified. | SP Function: transcription factor for tyrosinase and tyrosinase- related protein 1. binds to a symmetrical dna sequence (e-boxes) (5′-cacgtg-3′) found in the tyrosinase promoter. plays a critical role in the differentiation of various cell types as neural crest- derived melanocytes, mast cells, osteoclasts and optic cup-derived retinal pigment epithelium. | Gene Ontology:
molecular function: biological process: biological process: cellular component: biological process: biological process: molecular function: molecular function: |
BioCarta Pathways:
1: Melanocyte Development and Pigmentation Pathway |
KEGG Pathways: |
| Unique id : H001266_01
Name: RNA binding motif, single stranded interacting protein 1 |
Sum Func: This gene encodes a member of a small family of proteins which bind single stranded DNA/RNA. These proteins are characterized by the presence of two sets of ribonucleoprotein consensus sequence (RNP-CS) that contain conserved motifs, RNP1 and RNP2, originally described in RNA binding proteins, and required for DNA binding. These proteins have been implicated in such diverse functions as DNA replication, gene transcription, cell cycle progression and apoptosis. Multiple transcript variants, resulting from alternative splicing and encoding different isoforms, have been described. Several of these were isolated by virtue of their binding to either strand of an upstream element of c-myc (MSSPs), or by phenotypic complementation of cdc2 and cdc13 mutants of yeast (scr2), or as a potential human repressor of HIV-1 and ILR-2 alpha promoter transcription (YC1). | SP Function: single-stranded dna binding protein that interacts with the region upstream of the c-myc gene. binds specifically to the dna sequence motif 5′-[at]ct[at][at]t-3′. probably has a role in dna replication. | Gene Ontology:
biological process: biological process: molecular function: molecular function: molecular function: biological process: molecular function: molecular function: cellular component: cellular component: biological process: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H000626_01
Name: Ribosomal protein L10 |
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 L10E family of ribosomal proteins. It is located in the cytoplasm. In vitro studies have shown that the chicken protein can bind to c-Jun and can repress c-Jun-mediated transcriptional activation, but these activities have not been demonstrated in vivo. This gene was initially identified as a candidate for a Wilms tumor suppressor gene, but later studies determined that this gene is not involved in the suppression of Wilms tumor. This gene has been referred to as ‘laminin receptor homolog’ because a chimeric transcript consisting of sequence from this gene and sequence from the laminin receptor gene was isolated; however, it is not believed that this gene encodes a laminin receptor. Transcript variants utilizing alternative polyA signals exist. The variant with the longest 3′ UTR overlaps the deoxyribonuclease I-like 1 gene on the opposite strand. This gene is co-transcribed with the small nucleolar RNA gene U70, which is located in its fifth intron. 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: cellular component: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H008012_01
Name: Ribosomal protein S24 |
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 40S subunit. The protein belongs to the S24E family of ribosomal proteins. It is located in the cytoplasm. Alternative splice variants that encode different protein isoforms exist. 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: biological process: cellular component: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H006775_01
Name: A disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 1 |
Sum Func: This gene encodes a disintegrin and metalloproteinase with thrombospondin motifs-1 (ADAMTS1), which is a member of the ADAMTS protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The protein encoded by this gene contains 2 disintegrin loops and 3 C-terminal TS motifs and has anti-angiogenic activity. The expression of this gene may be associated with various inflammatory processes as well as development of cancer cachexia. This gene is likely to be necessary for normal growth, fertility, and organ morphology and function. | SP Function: | Gene Ontology:
cellular component: molecular function: molecular function: molecular function: biological process: molecular function: biological process: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H005212_01
Name: C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 2 (activation-induced) |
Sum Func: This gene encodes a member of the C-type lectin/C-type lectin-like domain (CTL/CTLD) superfamily. Members of this family share a common protein fold and have diverse functions, such as cell adhesion, cell-cell signaling, glycoprotein turnover, and roles in inflammation and immune response. The encoded type 2 transmembrane protein may function as a cell activation antigen. An alternative splice variant has been described but its full-length sequence has not been determined. This gene is closely linked to other CTL/CTLD superfamily members on chromosome 12p13 in the natural killer gene complex region. | SP Function: | Gene Ontology:
biological process: cellular component: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H005723_01
Name: Ribosomal protein L34 |
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 L34E family of ribosomal proteins. It is located in the cytoplasm. This gene originally was thought to be located at 17q21, but it has been mapped to 4q. Transcript variants derived from alternative splicing, alternative transcription initiation sites, and/or alternative polyadenylation exist; these variants encode the same protein. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. | SP Function: | Gene Ontology:
molecular function: cellular component: cellular component: biological process: cellular component: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003115_01
Name: Low density lipoprotein-related protein 1 (alpha-2-macroglobulin receptor) |
Sum Func: | SP Function: involved in the plasma clearance of chylomicron remnants and activated alpha 2-macroglobulin, as well as the local metabolism of complexes between plasminogen activators and their endogenous inhibitors. | Gene Ontology:
molecular function: biological process: cellular component: biological process: cellular component: biological process: molecular function: molecular function: cellular component: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H014105_01
Name: Ribosomal protein L36a-like |
Sum Func: Cytoplasmic ribosomes, 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, which shares sequence similarity with yeast ribosomal protein L44, belongs to the L44E (L36AE) family of ribosomal proteins. This gene and the human gene officially named ribosomal protein L36a (RPL36A) encode nearly identical proteins; however, they are distinct genes. Although the name of this gene has been referred to as ribosomal protein L36a (RPL36A), its official name is ribosomal protein L36a-like (RPL36AL). As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. | SP Function: | Gene Ontology:
biological process: cellular component: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H012632_01
Name: Ribosomal protein L9 |
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 L6P family of ribosomal proteins. It 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: | Gene Ontology:
molecular function: cellular component: biological process: cellular component: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H000213_01
Name: Eukaryotic translation initiation factor 3, subunit 6 48kDa |
Sum Func: | SP Function: | Gene Ontology:
biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H000034_01
Name: Ribosomal protein L7 Locus Link: 6129 |
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 L30P family of ribosomal proteins. It contains an N-terminal basic region-leucine zipper (BZIP)-like domain and the RNP consensus submotif RNP2. In vitro the BZIP-like domain mediates homodimerization and stable binding to DNA and RNA, with a preference for 28S rRNA and mRNA. The protein can inhibit cell-free translation of mRNAs, suggesting that it plays a regulatory role in the translation apparatus. It is located in the cytoplasm. The protein has been shown to be an autoantigen in patients with systemic autoimmune diseases, such as systemic lupus erythematosus. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. | SP Function: binds to g-rich structures in 28s rrna and in mrnas. plays a regulatory role in the translation apparatus; inhibits cell-free translation of mrnas. | Gene Ontology:
molecular function: cellular component: cellular component: biological process: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H007807_01
Name: Ribosomal protein L39 |
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 S39E family of ribosomal proteins. It is located in the cytoplasm. In rat, the protein is the smallest, and one of the most basic, proteins of the ribosome. This gene is co-transcribed with the U69 small nucleolar RNA gene, which is located in its second intron. 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: biological process: cellular component: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H011160_01
Name: Eukaryotic translation elongation factor 1 beta 2 |
Sum Func: This gene encodes a translation elongation factor. The protein is a guanine nucleotide exchange factor involved in the transfer of aminoacylated tRNAs to the ribosome. Alternative splicing results in two transcript variants which differ only in the 5′ UTR. | SP Function: ef-1-beta and ef-1-delta stimulate the exchange of gdp bound to ef-1-alpha to gtp. | Gene Ontology:
cellular component: biological process: molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002689_01
Name: Ribosomal protein L15 |
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 L15E family of ribosomal proteins. It is located in the cytoplasm. This gene shares sequence similarity with the yeast ribosomal protein YL10 gene. Although this gene has been referred to as RPL10, its official symbol is RPL15. This gene has been shown to be overexpressed in some esophageal tumors compared to normal matched tissues. Transcript variants utilizing alternative polyA signals exist. 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: biological process: cellular component: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H012998_01
Name: RNA binding motif, single stranded interacting protein 1 |
Sum Func: This gene encodes a member of a small family of proteins which bind single stranded DNA/RNA. These proteins are characterized by the presence of two sets of ribonucleoprotein consensus sequence (RNP-CS) that contain conserved motifs, RNP1 and RNP2, originally described in RNA binding proteins, and required for DNA binding. These proteins have been implicated in such diverse functions as DNA replication, gene transcription, cell cycle progression and apoptosis. Multiple transcript variants, resulting from alternative splicing and encoding different isoforms, have been described. Several of these were isolated by virtue of their binding to either strand of an upstream element of c-myc (MSSPs), or by phenotypic complementation of cdc2 and cdc13 mutants of yeast (scr2), or as a potential human repressor of HIV-1 and ILR-2 alpha promoter transcription (YC1). | SP Function: single-stranded dna binding protein that interacts with the region upstream of the c-myc gene. binds specifically to the dna sequence motif 5′-[at]ct[at][at]t-3′. probably has a role in dna replication. | Gene Ontology:
biological process: biological process: molecular function: molecular function: molecular function: biological process: molecular function: molecular function: cellular component: cellular component: biological process: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H007375_01
Name: CAMP responsive element binding protein 3-like 2 |
Sum Func: CREB3L2 is a member of the old astrocyte specifically induced substance (OASIS) DNA binding and basic leucine zipper dimerization (bZIP) family of transcription factors, which includes CREB3 (MIM 606443) and CREB4 (MIM 607138).[supplied by OMIM] | SP Function: | Gene Ontology: | BioCarta Pathways: | KEGG Pathways: |
| Unique id : H015333_01
Name: Ribosomal protein L35a |
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 L35AE family of ribosomal proteins. It is located in the cytoplasm. The rat protein has been shown to bind to both initiator and elongator tRNAs, and thus, it is located at the P site, or P and A sites, of the ribosome. Although this gene was originally mapped to chromosome 18, it has been established that it is located at 3q29-qter. Transcript variants utilizing alternative transcription initiation sites and alternative polyA signals exist. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. | SP Function: the protein was found to bind to both initiator and elongator trnas and consequently was assigned to the p site or p and a site. | Gene Ontology:
cellular component: cellular component: biological process: cellular component: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H000589_01
Name: Cysteine-rich, angiogenic inducer, 61 |
Sum Func: CYR61 is a secreted, cysteine-rich, heparin-binding protein encoded by a growth factor-inducible immediate-early gene. Acting as an extracellular, matrix-associated signaling molecule, CYR61 promotes the adhesion of endothelial cells through interaction with integrin and augments growth factor-induced DNA synthesis in the same cell type.[supplied by OMIM] | SP Function: promotes cell proliferation, chemotaxis, angiogenesis and cell adhesion. appears to play a role in wound healing by up- regulating, in skin fibroblasts, the expression of a number of genes involved in angiogenesis, inflammation and matrix remodeling including vega-a, vega-c, mmp1, mmp3, timp1, upa, pai-1 and integrins alpha-3 and alpha-5. cyr61-mediated gene regulation is dependent on heparin-binding. down-regulates the expression of alpha-1 and alpha-2 subunits of collagen type-1. promotes cell adhesion and adhesive signaling through integrin alpha-6/beta-1, cell migration through integrin alpha-v/beta-5 and cell proliferation through integrin alpha-v/beta-3. | Gene Ontology:
biological process: biological process: biological process: cellular component: molecular function: molecular function: biological process: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003196_01
Name: Ribosomal protein L6 |
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 L6E family of ribosomal proteins. It is located in the cytoplasm. The protein can bind specifically to domain C of the tax-responsive enhancer element of human T-cell leukemia virus type 1, and it has been suggested that the protein may participate in tax-mediated transactivation of transcription. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. | SP Function: specifically binds to domain c of the tax-responsive enhancer element in the long terminal repeat of htlv-i. | Gene Ontology:
molecular function: molecular function: cellular component: cellular component: biological process: biological process: cellular component: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H006606_01
Name: Ribosomal protein L24 |
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 L24E family of ribosomal proteins. It is located in the cytoplasm. This gene has been referred to as ribosomal protein L30 because the encoded protein shares amino acid identity with the L30 ribosomal proteins from S. cerevisiae; however, its official name is ribosomal protein L24. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. | SP Function: | Gene Ontology:
molecular function: cellular component: biological process: cellular component: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H009456_01
Name: Ribosomal protein L17 |
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 L22P family of ribosomal proteins. It is located in the cytoplasm. This gene has been referred to as rpL23 because the encoded protein shares amino acid identity with ribosomal protein L23 from Halobacterium marismortui; however, its official symbol is RPL17. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. | SP Function: | Gene Ontology:
molecular function: cellular component: cellular component: biological process: biological process: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H012065_01
Name: Ribosomal protein S4, X-linked |
Sum Func: Cytoplasmic ribosomes, 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 ribosomal protein S4, a component of the 40S subunit. Ribosomal protein S4 is the only ribosomal protein known to be encoded by more than one gene, namely this gene and ribosomal protein S4, Y-linked (RPS4Y). The 2 isoforms encoded by these genes are not identical, but are functionally equivalent. Ribosomal protein S4 belongs to the S4E family of ribosomal proteins. This gene is not subject to X-inactivation. It has been suggested that haploinsufficiency of the ribosomal protein S4 genes plays a role in Turner syndrome; however, this hypothesis is controversial. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. | SP Function: | Gene Ontology:
molecular function: cellular component: biological process: cellular component: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H000071_01
Name: Ribosomal protein S3A |
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 40S subunit. The protein belongs to the S3AE family of ribosomal proteins. It is located in the cytoplasm. Disruption of the gene encoding rat ribosomal protein S3a, also named v-fos transformation effector protein, in v-fos-transformed rat cells results in reversion of the transformed phenotype. Transcript variants utilizing alternative transcription start sites have been described. This gene is co-transcribed with the U73A and U73B small nucleolar RNA genes, which are located in its fourth and third 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: biological process: cellular component: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H009310_01
Name: Immunoglobulin superfamily containing leucine-rich repeat |
Sum Func: | SP Function: | Gene Ontology:
biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003208_01
Name: Mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase |
Sum Func: UDP-N-acetylglucosamine:alpha-6-D-mannoside-beta-1,2-N-acetylglucosaminyltransferase II is a Golgi enzyme catalyzing an essential step in the conversion of oligomannose to complex N-glycans. The enzyme has the typical glycosyltransferase domains: a short N-terminal cytoplasmic domain, a hydrophobic non-cleavable signal-anchor domain, and a C-terminal catalytic domain. Mutations in MGAT2 may lead to carbohydrate-deficient glycoprotein syndrome, type II. | SP Function: catalyzes an essential step in the conversion of oligo- mannose to complex n-glycans. | Gene Ontology:
cellular component: biological process: molecular function: cellular component: cellular component: biological process: molecular function: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H016058_01
Name: UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 3 |
Sum Func: This gene is one of seven beta-1,4-galactosyltransferase (beta4GalT) genes. They encode type II membrane-bound glycoproteins that appear to have exclusive specificity for the donor substrate UDP-galactose; all transfer galactose in a beta1,4 linkage to similar acceptor sugars: GlcNAc, Glc, and Xyl. Each beta4GalT has a distinct function in the biosynthesis of different glycoconjugates and saccharide structures. As type II membrane proteins, they have an N-terminal hydrophobic signal sequence that directs the protein to the Golgi apparatus and which then remains uncleaved to function as a transmembrane anchor. By sequence similarity, the beta4GalTs form four groups: beta4GalT1 and beta4GalT2, beta4GalT3 and beta4GalT4, beta4GalT5 and beta4GalT6, and beta4GalT7. This gene encodes an enzyme that may be mainly involved in the synthesis of the first N-acetyllactosamine unit of poly-N-acetyllactosamine chains. | SP Function: responsible for the synthesis of complex-type n-linked oligosaccharides in many glycoproteins as well as the carbohydrate moieties of glycolipids. | Gene Ontology:
cellular component: molecular function: molecular function: biological process: molecular function: cellular component: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003403_01
Name: Mannosidase, alpha, class 2A, member 1 |
Sum Func: This gene encodes a protein which is a member of family 38 of the glycosyl hydrolases. The protein is located in the Golgi and catalyzes the final hydrolytic step in the asparagine-linked oligosaccharide (N-glycan) maturation pathway. Mutations in the mouse homolog of this gene have been shown to cause a systemic autoimmune disease similar to human systemic lupus erythematosus. | 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: biological process: molecular function: cellular component: molecular function: cellular component: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H001712_01
Name: Dolichyl – diphosphooligosaccharide – protein glycosyltransferase |
Sum Func: | SP Function: essential subunit of n-oligosaccharyl transferase enzyme which catalyzes the transfer of a high mannose oligosaccharide to an asparagine residue within an asn-x-ser/thr consensus motif in nascent polypeptide chains. | Gene Ontology:
biological process: molecular function: cellular component: cellular component: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H006144_01
Name: UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 3 |
Sum Func: This gene is one of seven beta-1,4-galactosyltransferase (beta4GalT) genes. They encode type II membrane-bound glycoproteins that appear to have exclusive specificity for the donor substrate UDP-galactose; all transfer galactose in a beta1,4 linkage to similar acceptor sugars: GlcNAc, Glc, and Xyl. Each beta4GalT has a distinct function in the biosynthesis of different glycoconjugates and saccharide structures. As type II membrane proteins, they have an N-terminal hydrophobic signal sequence that directs the protein to the Golgi apparatus and which then remains uncleaved to function as a transmembrane anchor. By sequence similarity, the beta4GalTs form four groups: beta4GalT1 and beta4GalT2, beta4GalT3 and beta4GalT4, beta4GalT5 and beta4GalT6, and beta4GalT7. This gene encodes an enzyme that may be mainly involved in the synthesis of the first N-acetyllactosamine unit of poly-N-acetyllactosamine chains. | SP Function: responsible for the synthesis of complex-type n-linked oligosaccharides in many glycoproteins as well as the carbohydrate moieties of glycolipids. | Gene Ontology:
cellular component: molecular function: molecular function: biological process: molecular function: cellular component: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H001158_01
Name: UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1 |
Sum Func: This gene is one of seven beta-1,4-galactosyltransferase (beta4GalT) genes. They encode type II membrane-bound glycoproteins that appear to have exclusive specificity for the donor substrate UDP-galactose; all transfer galactose in a beta1,4 linkage to similar acceptor sugars: GlcNAc, Glc, and Xyl. Each beta4GalT has a distinct function in the biosynthesis of different glycoconjugates and saccharide structures. As type II membrane proteins, they have an N-terminal hydrophobic signal sequence that directs the protein to the Golgi apparatus and which then remains uncleaved to function as a transmembrane anchor. By sequence similarity, the beta4GalTs form four groups: beta4GalT1 and beta4GalT2, beta4GalT3 and beta4GalT4, beta4GalT5 and beta4GalT6, and beta4GalT7. This gene is unique among the beta4GalT genes because it encodes an enzyme that participates both in glycoconjugate and lactose biosynthesis. For the first activity, the enzyme adds galactose to N-acetylglucosamine residues that are either monosaccharides or the nonreducing ends of glycoprotein carbohydrate chains. The second activity is restricted to lactating mammary tissues where the enzyme forms a heterodimer with alpha-lactalbumin to catalyze UDP-galactose + D-glucose <=> UDP + lactose. The two enzymatic forms result from alternate transcription initiation sites and post-translational processing. Two transcripts, which differ only at the 5′ end, with approximate lengths of 4.1 kb and 3.9 kb encode the same protein. The longer transcript encodes the type II membrane-bound, trans-Golgi resident protein involved in glycoconjugate biosynthesis. The shorter transcript encodes a protein which is cleaved to form the soluble lactose synthase. | SP Function: the cell surface form functions as a recognition molecule during a variety of cell to cell and cell to matrix interactions, as those occurring during development and egg fertilization, by binding to specific oligosaccharide ligands on opposing cells or in the extracellular matrix. | Gene Ontology:
cellular component: molecular function: molecular function: biological process: molecular function: cellular component: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H014296_01
Name: Hypothetical protein FLJ21924 |
Sum Func: | SP Function: | Gene Ontology: | BioCarta Pathways: | KEGG Pathways: |
| Unique id : H001166_01
Name: Glucosidase I |
Sum Func: Glucosidase I is the first enzyme in the N-linked oligosaccharide processing pathway. GCS1 cleaves the distal alpha-1,2-linked glucose residue from the Glc(3)-Man(9)-GlcNAc(2) oligosaccharide precursor. GCS1 is located in the lumen of the endoplasmic reticulum. | SP Function: cleaves the distal alpha 1,2-linked glucose residue from the glc(3)man(9)glcnac(2) oligosaccharide precursor in a highly specific manner. | Gene Ontology:
biological process: cellular component: molecular function: cellular component: molecular function: cellular component: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H001585_01
Name: Mannosyl (alpha-1,3-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase |
Sum Func: There are believed to be over 100 different glycosyltransferases involved in the synthesis of protein-bound and lipid-bound oligosaccharides. UDP-N-acetylglucosamine:alpha-3-D-mannoside beta-1,2-N-acetylglucosaminyltransferase I is a medial-Golgi enzyme essential for the synthesis of hybrid and complex N-glycans. The protein, encoded by a single exon, shows typical features of a type II transmembrane protein. The protein is believed to be essential for normal embryogenesis. | SP Function: initiates complex n-linked carbohydrate formation. essential for the conversion of high-mannose to hybrid and complex n-glycans. | Gene Ontology:
cellular component: biological process: molecular function: biological process: biological process: cellular component: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H016296_01
Name: Dolichyl – diphosphooligosaccharide – protein glycosyltransferase |
Sum Func: | SP Function: essential subunit of n-oligosaccharyl transferase enzyme which catalyzes the transfer of a high mannose oligosaccharide to an asparagine residue within an asn-x-ser/thr consensus motif in nascent polypeptide chains. | Gene Ontology:
biological process: molecular function: cellular component: cellular component: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002721_01
Name: Sialyltransferase 1 (beta-galactoside alpha-2,6-sialyltransferase) |
Sum Func: The protein encoded by this gene is a type II membrane protein that catalyzes the transfer of sialic acid from CMP-sialic acid to galactose-containing substrates. The encoded protein, which is normally found in the Golgi but which can be proteolytically processed to a soluble form, is involved in the generation of the cell-surface carbohydrate determinants and differentiation antigens HB-6, CDw75, and CD76. This protein is a member of glycosyltransferase family 29. Three transcript variants encoding two different isoforms have been found for this gene. | SP Function: transfers sialic acid from the donor of substrate cmp- sialic acid to galactose containing acceptor substrates. | Gene Ontology:
cellular component: molecular function: biological process: biological process: cellular component: biological process: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H000474_01
Name: Testis-specific kinase 1 |
Sum Func: This gene product is a serine/threonine protein kinase that contains an N-terminal protein kinase domain and a C-terminal proline-rich domain. Its protein kinase domain is most closely related to those of the LIM motif-containing protein kinases (LIMKs). The encoded protein can phosphorylate myelin basic protein and histone in vitro. The testicular germ cell-specific expression and developmental pattern of expression of the mouse gene suggests that this gene plays an important role at and after the meiotic phase of spermatogenesis. | SP Function: dual specificity protein kinase activity catalyzing autophosphorylation and phosphorylation of exogenous substrates on both serine/threonine and tyrosine residues. probably plays a central role at and after the meiotic phase of spermatogenesis (by similarity). | Gene Ontology:
molecular function: molecular function: molecular function: biological process: molecular function: molecular function: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H001868_01
Name: Dual specificity phosphatase 9 |
Sum Func: The protein encoded by this gene is a member of the dual specificity protein phosphatase subfamily. These phosphatases inactivate their target kinases by dephosphorylating both the phosphoserine/threonine and phosphotyrosine residues. They negatively regulate members of the mitogen-activated protein (MAP) kinase superfamily (MAPK/ERK, SAPK/JNK, p38), which is associated with cellular proliferation and differentiation. Different members of the family of dual specificity phosphatases show distinct substrate specificities for various MAP kinases, different tissue distribution and subcellular localization, and different modes of inducibility of their expression by extracellular stimuli. This gene product shows selectivity for members of the ERK family of MAP kinases, is expressed only in placenta, kidney, and fetal liver, and is localized to the cytoplasm and nucleus. | SP Function: inactivates map kinases. has a specificity for the erk family. | Gene Ontology:
biological process: molecular function: cellular component: molecular function: biological process: cellular component: biological process: biological process: |
BioCarta Pathways:
1: Regulation of MAP Kinase Pathways Through Dual Specificity Phosphatases |
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 : H002290_01
Name: Acid phosphatase 5, tartrate resistant |
Sum Func: Acid phosphatase 5 is an iron containing glycoprotein which catalyzes the conversion of orthophosphoric monoester to alcohol and orthophosphate. ACP5 is the most basic of the acid phosphatases and is the only form not inhibited by L(+)-tartrate. | SP Function: | Gene Ontology:
molecular function: molecular function: cellular component: cellular component: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002041_01
Name: Protein kinase, cAMP-dependent, catalytic, 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 a member of the Ser/Thr protein kinase family and is a catalytic subunit of AMPK. 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: cellular component: biological process: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003224_01
Name: Ubiquitin carboxyl-terminal esterase L3 (ubiquitin thiolesterase) |
Sum Func: | SP Function: ubiquitin-protein hydrolase is involved both in the processing of ubiquitin precursors and of ubiquinated 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: biological process: molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003028_01
Name: Protein tyrosine phosphatase, receptor type, M |
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 possesses an extracellular region, a single transmembrane region, and two tandem catalytic domains, and thus represents a receptor-type PTP. The extracellular region contains a meprin-A5 antigen-PTP mu (MAM) domain, an Ig-like domain and four fibronectin type III-like repeats. This PTP has been shown to mediate cell-cell aggregation through the interaction with another molecule of this PTP on an adjacent cell. This PTP can interact with scaffolding protein RACK1/GNB2L1, which may be necessary for the downstream signaling in response to cell-cell adhesion. | SP Function: may play a key role in signal transduction and growth control. | Gene Ontology:
molecular function: cellular component: biological process: molecular function: molecular function: |
BioCarta Pathways: | 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 : H008575_01
Name: Protein phosphatase 6, catalytic subunit |
Sum Func: | SP Function: may function in cell cycle regulation. | Gene Ontology:
biological process: molecular function: molecular function: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002124_01
Name: Protein phosphatase 1, catalytic subunit, gamma isoform |
Sum Func: | SP Function: protein phosphatase 1 (pp1) is essential for cell division, and participates in the regulation of glycogen metabolism, muscle contractility and protein synthesis. involved in regulation of ionic conductances and long-term synaptic plasticity. may play an important role in dephosphorylating substrates such as the postsynaptic density-associated ca(2+)/calmodulin dependent protein kinase ii. | Gene Ontology:
biological process: biological process: molecular function: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways:
3: Apoptosis 10: Natural killer cell mediated cytotoxicity 11: T cell receptor signaling pathway |
| Unique id : H003657_01
Name: Protein kinase, interferon-inducible double stranded RNA dependent |
Sum Func: | SP Function: on activation by double-stranded rna in the presence of atp, the kinase becomes autophosphorylated and can catalyze the phosphorylation of the alpha subunit of eif2, which leads to an inhibition of the initiation of protein synthesis. | Gene Ontology:
molecular function: biological process: biological process: molecular function: molecular function: molecular function: biological process: cellular component: biological process: biological process: biological process: molecular function: molecular function: biological process: molecular function: |
BioCarta Pathways:
1: Regulation of eIF2 2: Inactivation of Gsk3 by AKT causes accumulation of b-catenin in Alveolar Macrophages 3: Bone Remodelling 4: Double Stranded RNA Induced Gene Expression 5: Toll-Like Receptor 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 : H006644_01
Name: Phosphorylase kinase, alpha 2 (liver) |
Sum Func: | SP Function: phosphorylase b kinase catalyzes the phosphorylation of serine in certain substrates, including troponin i. the alpha chain may bind calmodulin. | Gene Ontology:
molecular function: biological process: biological process: biological process: molecular function: cellular component: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H001785_01
Name: Hepsin (transmembrane protease, serine 1) |
Sum Func: Hepsin is a cell surface serine protease.[supplied by OMIM] | SP Function: plays an essential role in cell growth and maintenance of cell morphology. | Gene Ontology:
biological process: molecular function: molecular function: cellular component: biological process: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002876_01
Name: Protein tyrosine phosphatase, non-receptor type 2 |
Sum Func: The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. Members of the PTP family share a highly conserved catalytic motif, which is essential for the catalytic activity. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. Epidermal growth factor receptor and the adaptor protein Shc were reported to be substrates of this PTP, which suggested the roles in growth factor mediated cell signaling. Three alternatively spliced variants of this gene, which encode isoforms differing at their extreme C-termini, have been described. The different C-termini are thought to determine the substrate specificity, as well as the cellular localization of the isoforms. Two highly related but distinctly processed pseudogenes that localize to distinct chromosomes have been reported. | SP Function: | Gene Ontology:
molecular function: biological process: biological process: molecular function: molecular function: molecular function: |
BioCarta Pathways: | 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 : H001127_01
Name: Leukocyte tyrosine kinase |
Sum Func: The protein encoded by this gene is a member of the ros/insulin receptor family of tyrosine kinases. Tyrosine-specific phosphorylation of proteins is a key to the control of diverse pathways leading to cell growth and differentiation. Two alternatively spliced transcript variants encoding different isoforms have been described for this gene. | SP Function: the exact function of this protein is not known. it is probably a receptor with a tyrosine-protein kinase activity. | Gene Ontology:
molecular function: cellular component: cellular component: biological process: biological process: molecular function: molecular function: biological process: cellular component: molecular function: molecular function: molecular function: biological process: |
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 : H000507_01
Name: Tubulin-specific chaperone c |
Sum Func: Cofactor C is one of four proteins (cofactors A, D, E, and C) involved in the pathway leading to correctly folded beta-tubulin from folding intermediates. Cofactors A and D are believed to play a role in capturing and stabilizing beta-tubulin intermediates in a quasi-native confirmation. Cofactor E binds to the cofactor D/beta-tubulin complex; interaction with cofactor C then causes the release of beta-tubulin polypeptides that are committed to the native state. | SP Function: tubulin-folding protein; involved in the final step of the tubulin folding pathway. | Gene Ontology:
biological process: molecular function: cellular component: cellular component: cellular component: biological process: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H000387_01
Name: Cullin 2 |
Sum Func: | SP Function: component of e3 ubiquitin ligase complexes, including the cbc(vhl) (cul2-elonging bc-vhl) complex, which mediates the ubiquitination of hypoxia-inducible factor (hif). may serve as a rigid scaffold in the complex and may contribute to catalysis through positioning of the substrate and the ubiquitin-conjugating enzyme. | Gene Ontology:
biological process: biological process: biological process: biological process: biological process: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H000451_01
Name: PTK9 protein tyrosine kinase 9 |
Sum Func: This gene encodes twinfilin, an actin monomer-binding protein conserved from yeast to mammals. Studies of the mouse counterpart suggest that this protein may be an actin monomer-binding protein, and its localization to cortical G-actin-rich structures may be regulated by the small GTPase RAC1. Alternatively spliced transcript variants encoding distinct isoforms have been observed. | SP Function: | Gene Ontology:
molecular function: cellular component: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003873_01
Name: Protein tyrosine phosphatase, receptor type, K |
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 possesses an extracellular region, a single transmembrane region, and two tandem catalytic domains, and thus represents a receptor-type PTP. The extracellular region contains a meprin-A5 antigen-PTP mu (MAM) domain, an Ig-like domain and four fibronectin type III-like repeats. This PTP was shown to mediate homophilic intercellular interaction, possibly through the interaction with beta- and gamma-catenin at adherens junctions. Expression of this gene was found to be stimulated by TGF-beta 1, which may be important for the inhibition of keratinocyte proliferation. | SP Function: regulation of processes involving cell contact and adhesion such as growth control, tumor invasion, and metastasis. forms complexes with beta-catenin and gamma-catenin/plakoglobin. beta-catenin may be a substrate for the catalytic activity of ptp- kappa. | Gene Ontology:
molecular function: cellular component: cellular component: biological process: molecular function: molecular function: molecular function: |
BioCarta Pathways: | 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 : H001676_01
Name: Protein kinase C, iota |
Sum Func: The protein encoded by this gene belongs to the protein kinase C (PKC) family of serine/threonine protein kinases. The PKC family comprises at least eight members, which are differentially expressed and are involved in a wide variety of cellular processes. This protein kinase is calcium-independent and phospholipid-dependent. It is not activated by phorbolesters or diacylglycerol. This kinase can be recruited to vesicle tubular clusters (VTCs) by direct interaction with the small GTPase RAB2, where this kinase phosphorylates glyceraldehydes-3-phosphate dehydrogenase (GAPD/GAPDH) and plays a role in microtubule dynamics in the early secretory pathway. This kinase is found to be necessary for BCL-ABL-mediated resistance to drug-induced apoptosis and therefore protects leukemia cells against drug-induced apoptosis. There is a single exon pseudogene mapped on chromosome X. | SP Function: calcium-independent, phospholipid-dependent, serine- and threonine-specific enzyme. is not activated by phorbolesters or diacylglycerol. may play role in the secretory response to nutrients. involved in cell polarization processes and the formation of epithelial tight junctions. | Gene Ontology:
molecular function: molecular function: biological process: cellular component: molecular function: biological process: biological process: biological process: biological process: cellular component: molecular function: cellular component: biological process: molecular function: biological process: biological process: molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways:
3: Phosphatidylinositol signaling system 8: Gap junction 9: Natural killer cell mediated cytotoxicity |
| Unique id : H002475_01
Name: Pim-1 oncogene |
Sum Func: The protooncogene PIM1 encodes a protein kinase upregulated in prostate cancer.[supplied by OMIM] | SP Function: thought to play a role in signal transduction in blood cells. may affect the structure or silencing of chromatin by phosphorylating hp1 gamma/cbx3. | Gene Ontology:
molecular function: biological process: cellular component: biological process: cellular component: biological process: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003808_01
Name: V-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog |
Sum Func: KIT encodes the human homolog of the proto-oncogene c-kit. C-kit was first identified as the cellular homolog of the feline sarcoma viral oncogene v-kit. KIT is a type 3 transmembrane receptor for MGF (mast cell growth factor, also known as stem cell factor). Mutations in KIT are associated with gastrointestinal stromal tumors, mast cell disease, acute myelogenous leukemia, and piebaldism. | SP Function: this is the receptor for stem cell factor (mast cell growth factor). it has a tyrosine-protein kinase activity. binding of the ligands leads to the autophosphorylation of kit and its association with substrates such as phosphatidylinositol 3-kinase (pi3k). | Gene Ontology:
molecular function: biological process: cellular component: biological process: biological process: molecular function: molecular function: biological process: molecular function: biological process: molecular function: |
BioCarta Pathways:
1: Regulation of BAD phosphorylation 2: Melanocyte Development and Pigmentation 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 : H003804_01
Name: PTK7 protein tyrosine kinase 7 |
Sum Func: Receptor protein tyrosine kinases transduce extracellular signals across the cell membrane. A subgroup of these kinases lack detectable catalytic tyrosine kinase activity but retain roles in signal transduction. The protein encoded by this gene is a member of this subgroup of tyrosine kinases and may function as a cell adhesion molecule. This gene is thought to be expressed in colon carcinomas but not in normal colon, and therefore may be a marker for or may be involved in tumor progression. Five transcript variants encoding five different isoforms have been found for this gene. | SP Function: may function as a cell adhesion molecule. lacks probably the catalytic activity of tyrosine kinase. may be connected to the pathophysiology of colon carcinomas and/or may represent a tumor progression marker. | Gene Ontology:
molecular function: biological process: cellular component: cellular component: biological process: molecular function: molecular function: molecular function: biological process: molecular function: 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 : H001730_01
Name: Dual specificity phosphatase 7 |
Sum Func: | SP Function: | Gene Ontology:
molecular function: molecular function: biological process: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002155_01
Name: Casein kinase 1, delta |
Sum Func: This gene is a member of the casein kinase I (CKI) gene family whose members have been implicated in the control of cytoplasmic and nuclear processes, including DNA replication and repair. The encoded protein is highly similar to the mouse and rat CK1 delta homologs. Two transcript variants encoding different isoforms have been found for this gene. | SP Function: casein kinases are operationally defined by their preferential utilization of acidic proteins such as caseins as substrates. it can phosphorylate a large number of proteins. participates in wnt signaling. | Gene Ontology:
molecular function: biological process: biological process: molecular function: biological process: molecular function: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H015696_01
Name: Cathepsin B |
Sum Func: The protein encoded by this gene is a lysosomal cysteine proteinase composed of a dimer of disulfide-linked heavy and light chains, both produced from a single protein precursor. It is also known as amyloid precursor protein secretase and is involved in the proteolytic processing of amyloid precursor protein (APP). Incomplete proteolytic processing of APP has been suggested to be a causative factor in Alzheimer’s disease, the most common cause of dementia. Overexpression of the encoded protein, which is a member of the peptidase C1 family, has been associated with esophageal adenocarcinoma and other tumors. At least five transcript variants encoding the same protein have been found for this gene. | SP Function: thiol protease which is believed to participate in intracellular degradation and turnover of proteins. has also been implicated in tumor invasion and metastasis. | Gene Ontology:
molecular function: molecular function: cellular component: cellular component: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H001631_01
Name: Protein phosphatase 4 (formerly X), catalytic subunit |
Sum Func: | SP Function: | Gene Ontology:
molecular function: molecular function: cellular component: molecular function: |
BioCarta Pathways: | KEGG Pathways:
3: Apoptosis 10: Natural killer cell mediated cytotoxicity 11: T cell receptor signaling pathway |