Annotations – Page Three
| Gene Info | Sum Func | Function | Gene Ontology | Biocarta Pathways | Kegg Pathways |
|---|---|---|---|---|---|
| Unique id : H002356_01
Name: Alanyl (membrane) aminopeptidase (aminopeptidase N, aminopeptidase M, microsomal aminopeptidase, CD13, p150) |
Sum Func: Aminopeptidase N is located in the small-intestinal and renal microvillar membrane, and also in other plasma membranes. In the small intestine aminopeptidase N plays a role in the final digestion of peptides generated from hydrolysis of proteins by gastric and pancreatic proteases. Its function in proximal tubular epithelial cells and other cell types is less clear. The large extracellular carboxyterminal domain contains a pentapeptide consensus sequence characteristic of members of the zinc-binding metalloproteinase superfamily. Sequence comparisons with known enzymes of this class showed that CD13 and aminopeptidase N are identical. The latter enzyme was thought to be involved in the metabolism of regulatory peptides by diverse cell types, including small intestinal and renal tubular epithelial cells, macrophages, granulocytes, and synaptic membranes from the CNS. Human aminopeptidase N is a receptor for one strain of human coronavirus that is an important cause of upper respiratory tract infections. Defects in this gene appear to be a cause of various types of leukemia or lymphoma. | SP Function: broad specificity aminopeptidase. plays a role in the final digestion of peptides generated from hydrolysis of proteins by gastric and pancreatic proteases. may play a critical role in the pathogenesis of cholesterol gallstone disease. may be involved in the metabolism of regulatory peptides of diverse cell types including small intestinal and tubular epithelial cells, macrophages, granulocytes and synaptic membranes from the cns. found to cleave antigen peptides bound to major histocompatibility complex class ii molecules of presenting cells and to degrade neurotransmitters at synaptic junctions. is also implicated as a regulator of il-8 bioavailability in the endometrium, and therefore may contribute to the regulation of angiogenesis. is used as a marker for acute myeloid leukemia and plays a role in tumor invasion. also serves as a receptor for human coronavirus serogroup 1 (hcov-229e) in a species-specific manner. interacts with the s1 domain of hcov-229e spike protein. mediates as well human cytomegalovirus (hcmv) infection. | Gene Ontology:
molecular function: biological process: molecular function: cellular component: molecular function: molecular function: biological process: molecular function: molecular function: |
BioCarta Pathways:
1: SARS Coronavirus Protease 2: Dendritic cells in regulating TH1 and TH2 Development |
KEGG Pathways: |
| Unique id : H002669_01
Name: LIM domain kinase 2 |
Sum Func: There are approximately 40 known eukaryotic LIM proteins, so named for the LIM domains they contain. LIM domains are highly conserved cysteine-rich structures containing 2 zinc fingers. Although zinc fingers usually function by binding to DNA or RNA, the LIM motif probably mediates protein-protein interactions. LIM kinase-1 and LIM kinase-2 belong to a small subfamily with a unique combination of 2 N-terminal LIM motifs and a C-terminal protein kinase domain. The LIMK2 protein is phosphorylated and activated by ROCK, a downstream effector of Rho, and LIM kinase 2, in turn, phosphorylates cofilin, inhibiting its actin-depolymerizing activity. It is thought that this pathway contributes to Rho-induced reorganization of the actin cytoskeleton. Two alternative splice variants of LIMK2 that utilize alternative promoters have been identified. | SP Function: displays serine/threonine-specific phosphorylation of myelin basic protein and histone (mbp) in vitro. | Gene Ontology:
molecular function: cellular component: cellular component: biological process: molecular function: molecular function: molecular function: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H001679_01
Name: Protein phosphatase, EF hand calcium-binding domain 1 |
Sum Func: This gene encodes a member of the serine/threonine protein phosphatase with EF-hand motif family. The protein contains a protein phosphatase catalytic domain, and at least two EF-hand calcium-binding motifs in its C terminus. Although its substrate(s) is unknown, the encoded protein has been suggested to play a role in specific sensory neuron function and/or development. This gene shares high sequence similarity with the Drosophila retinal degeneration C (rdgC) gene. Several alternatively spliced transcript variants, each encoding a distinct isoform, have been described. | SP Function: may have a role in the recovery or adaptation response of photoreceptors. may have a role in development. | Gene Ontology:
molecular function: molecular function: molecular function: molecular function: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways:
3: Apoptosis 10: Natural killer cell mediated cytotoxicity 11: T cell receptor signaling pathway |
| Unique id : H001296_01
Name: Protein tyrosine phosphatase, non-receptor type 7 |
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 gene is preferentially expressed in a variety of hematopoietic cells, and is an early response gene in lymphokine stimulated cells. The non catalytic N-terminus of this PTP can interact with MAP kinases and suppress the MAP kinase activities. This PTP was shown to be involved in the regulation of T cell antigen receptor (TCR) signaling, which was thought to function through dephosphorylating the molecules related to MAP kinase pathway. Three alternatively spliced transcript variants of this gene, which encode two distinct isoforms, are reported. | SP Function: may play a role in the regulation of t and b lymphocyte development and signal transduction. | Gene Ontology:
cellular component: molecular function: biological process: biological process: molecular function: molecular function: |
BioCarta Pathways:
1: T Cell Receptor Signaling Pathway |
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 : H000198_01
Name: KIAA0508 protein |
Sum Func: | SP Function: may play a role in terminal differentiation of skeletal muscle cells but not in the determination of cells to the myogenic lineage. | Gene Ontology:
biological process: biological process: molecular function: cellular component: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003518_01
Name: V-abl Abelson murine leukemia viral oncogene homolog 2 (arg, Abelson-related gene) |
Sum Func: ABL2 is a cytoplasmic tyrosine kinase which is closely related to but distinct from ABL1. The similarity of the proteins includes the tyrosine kinase domains and extends amino-terminal to include the SH2 and SH3 domains. ABL2 is expressed in both normal and tumor cells. The ABL2 gene product is expressed as two variants bearing different amino termini, both approximately 12-kb in length. | SP Function: | Gene Ontology:
molecular function: biological process: cellular component: biological process: biological process: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H000558_01
Name: Serine/threonine kinase 4 |
Sum Func: The protein encoded by this gene is a cytoplasmic kinase that is structurally similar to the yeast Ste20p kinase, which acts upstream of the stress-induced mitogen-activated protein kinase cascade. The encoded protein can phosphorylate myelin basic protein and undergoes autophosphorylation. A caspase-cleaved fragment of the encoded protein has been shown to be capable of phosphorylating histone H2B. The particular phosphorylation catalyzed by this protein has been correlated with apoptosis, and it’s possible that this protein induces the chromatin condensation observed in this process. | SP Function: stress-activated, pro-apoptotic kinase which, following caspase-cleavage, enters the nucleus and induces chromatin condensation followed by internucleosomal dna fragmentation. | Gene Ontology:
molecular function: molecular function: biological process: biological process: cellular component: molecular function: cellular component: biological process: biological process: biological process: molecular function: biological process: molecular function: molecular function: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003621_01
Name: Fer (fps/fes related) tyrosine kinase (phosphoprotein NCP94) |
Sum Func: Fer protein is a member of the FPS/FES family of nontransmembrane receptor tyrosine kinases. It regulates cell-cell adhesion and mediates signaling from the cell surface to the cytoskeleton via growth factor receptors. | SP Function: tyrosine kinase of the non-receptor type. probably performs an important function, perhaps in regulatory processes such as cell cycle control. | Gene Ontology:
molecular function: biological process: biological process: cellular component: biological process: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways:
2: Cell cycle 8: Gap junction 10: Natural killer cell mediated cytotoxicity 11: T cell receptor signaling pathway 12: B cell receptor signaling pathway 13: Fc epsilon RI signaling pathway 14: Leukocyte transendothelial migration 16: Regulation of actin cytoskeleton 18: Adipocytokine signaling pathway 19: Epithelial cell signaling in Helicobacter pylori infection |
| Unique id : H008496_01
Name: Cullin 1 |
Sum Func: | SP Function: essential component of the scf (skp1-cul1-f-box protein) e3 ubiquitin ligase complex, which mediates the ubiquitination of proteins involved in cell cycle progression, signal transduction and transcription. in the scf complex, serves as a rigid scaffold that organizes the skp1-f-box protein and rbx1 subunits. 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: molecular function: biological process: |
BioCarta Pathways:
1: ER–associated degradation (ERAD) Pathway 2: Cyclin E Destruction Pathway 3: Regulation of p27 Phosphorylation during Cell Cycle Progression 4: E2F1 Destruction Pathway |
KEGG Pathways: |
| Unique id : H001706_01
Name: Protein tyrosine phosphatase, non-receptor type 3 |
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 protein contains a C-terminal PTP domain and an N-terminal domain homologous to the band 4.1 superfamily of cytoskeletal-associated proteins. P97, a cell cycle regulator involved in a variety of membrane related functions, has been shown to be a substrate of this PTP. This PTP was also found to interact with, and be regulated by adaptor protein 14-3-3 beta. | SP Function: may act at junctions between the membrane and the cytoskeleton. | Gene Ontology:
molecular function: cellular component: 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 : H002457_01
Name: Protein kinase C, zeta |
Sum Func: Protein kinase C (PKC) zeta is a member of the PKC family of serine/threonine kinases which are involved in a variety of cellular processes such as proliferation, differentiation and secretion. Unlike the classical PKC isoenzymes which are calcium-dependent, PKC zeta exhibits a constitutive kinase activity which is independent of calcium, and PKC activators, phosphatidylserine and diacylglycerol. Furthermore, it is insensitive to PKC inhibitors and cannot be activated by phorbol ester. The structural and biochemical properties indicate that the zeta subspecies is related to, but distinct from other isoenzymes of PKC. | SP Function: pkc is activated by diacylglycerol which in turn phosphorylates a range of cellular proteins. pkc also serves as the receptor for phorbol esters, a class of tumor promoters. subunit of a quaternary complex that plays a central role in epithelial cell polarization. | Gene Ontology:
molecular function: biological process: molecular function: cellular component: molecular function: biological process: cellular component: cellular component: biological process: molecular function: molecular function: |
BioCarta Pathways:
1: Phosphoinositides and their downstream targets. |
KEGG Pathways:
3: Phosphatidylinositol signaling system 8: Gap junction 9: Natural killer cell mediated cytotoxicity |
| Unique id : H003286_01
Name: 3-phosphoinositide dependent protein kinase-1 |
Sum Func: | SP Function: phosphorylates and activates not only pkb/akt, but also pka, pkc-zeta, p70s6k and p90s6k/rsk. may play a general role in signaling processes and in development (by similarity). isoform 3 is catalytically inactive. | Gene Ontology:
molecular function: molecular function: biological process: cellular component: biological process: cellular component: biological process: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H000682_01
Name: Phosphorylase kinase, gamma 2 (testis) |
Sum Func: | SP Function: phosphorylase b kinase catalyzes the phosphorylation of serine in certain substrates, including troponin i. this isozyme may regulate glycogenolysis in the testis. | Gene Ontology:
molecular function: molecular function: molecular function: biological process: biological process: glycogen biosynthesis molecular function: molecular function: cellular component: cellular component: biological process: biological process: molecular function: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H001393_01
Name: Protein tyrosine phosphatase type IVA, member 2 |
Sum Func: The protein encoded by this gene belongs to a small class of the protein tyrosine phosphatase (PTP) family. PTPs are cell signaling molecules that play regulatory roles in a variety of cellular processes. PTPs in this class contain a protein tyrosine phosphatase catalytic domain and a characteristic C-terminal prenylation motif. This PTP has been shown to primarily associate with plasmic and endosomal membrane through its C-terminal prenylation. This PTP was found to interact with the beta-subunit of Rab geranylgeranyltransferase II (beta GGT II), and thus may function as a regulator of GGT II activity. Overexpression of this gene in mammalian cells conferred a transformed phenotype, which suggested its role in tumorigenesis. Three alternatively spliced transcript variants, which encode two distinct isoforms, have been described. | SP Function: | Gene Ontology:
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 : H002947_01
Name: Protein phosphatase 1, catalytic subunit, alpha isoform |
Sum Func: The protein encoded by this gene is one of the three catalytic subunits of protein phosphatase 1 (PP1). PP1 is a serine/threonine specific protein phosphatase known to be involved in the regulation of a variety of cellular processes, such as cell division, glycogen metabolism, muscle contractility, protein synthesis, and HIV-1 viral transcription. Increased PP1 activity has been observed in the end stage of heart failure. Studies in both human and mice suggest that PP1 is an important regulator of cardiac function. Mouse studies also suggest that PP1 functions as a suppressor of learning and memory. Alternatively spliced transcript variants encoding the distinct isoforms have been observed. | SP Function: | 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 : H003484_01
Name: B lymphoid tyrosine kinase |
Sum Func: | SP Function: may function in a signal transduction pathway that is restricted to b lymphoid cells. | Gene Ontology:
molecular function: biological process: biological process: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways:
2: Cell cycle 8: Gap junction 10: Natural killer cell mediated cytotoxicity 11: T cell receptor signaling pathway 12: B cell receptor signaling pathway 13: Fc epsilon RI signaling pathway 14: Leukocyte transendothelial migration 16: Regulation of actin cytoskeleton 18: Adipocytokine signaling pathway 19: Epithelial cell signaling in Helicobacter pylori infection |
| Unique id : H000392_01
Name: Renal tumor antigen |
Sum Func: | SP Function: | Gene Ontology:
molecular function: cellular component: biological process: molecular function: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways:
1: Cell cycle 4: Gap junction |
| Unique id : H001273_01
Name: BMX non-receptor tyrosine kinase |
Sum Func: Tyrosine kinases are either receptor molecules, which contain transmembrane and extracellular domains, or nonreceptor proteins, which are located intracellularly. One family of nonreceptor TKs includes the genes TEC (MIM 600583), TXK (MIM 600058), ITK (MIM 186973), and BTK (MIM 300300). All of these proteins are homologs of the Drosophila Src28 TK and contain an SH3 and SH2 domain upstream of the TK domain.[supplied by OMIM] | SP Function: activity is required for interleukin 6 (il-6) induced differentiation. may play a role in the growth and differentiation of hematopoietic cells. may be involved in signal transduction in endocardial and arterial endothelial cells. | Gene Ontology:
molecular function: biological process: biological process: biological process: molecular function: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways:
2: Cell cycle 8: Gap junction 10: Natural killer cell mediated cytotoxicity 11: T cell receptor signaling pathway 12: B cell receptor signaling pathway 13: Fc epsilon RI signaling pathway 14: Leukocyte transendothelial migration 16: Regulation of actin cytoskeleton 18: Adipocytokine signaling pathway 19: Epithelial cell signaling in Helicobacter pylori infection |
| Unique id : H002235_01
Name: Ubiquitin specific protease 6 (Tre-2 oncogene) |
Sum Func: | SP Function: has an atp-independent isopeptidase activity, cleaving at the c-terminus of the ubiquitin moiety. in vitro, isoform 2, but not isoform 3, shows deubiquitinating activity. | Gene Ontology:
biological process: molecular function: molecular function: cellular component: molecular function: biological process: molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H000617_01
Name: Protein phosphatase 2, regulatory subunit B (B56), beta isoform |
Sum Func: The product of this gene belongs to the phosphatase 2A regulatory subunit B family. Protein phosphatase 2A is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. The B regulatory subunit might modulate substrate selectivity and catalytic activity. This gene encodes a beta isoform of the regulatory subunit B56 subfamily. | SP Function: the b regulatory subunit might modulate substrate selectivity and catalytic activity, and also might direct the localization of the catalytic enzyme to a particular subcellular compartment. | Gene Ontology:
cellular component: molecular function: cellular component: molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002948_01
Name: Ubiquitin specific protease 4 (proto-oncogene) |
Sum Func: | SP Function: | Gene Ontology:
biological process: molecular function: molecular function: cellular component: cellular component: biological process: molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003637_01
Name: Protein tyrosine phosphatase, non-receptor type 12 |
Sum Func: The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP contains a C-terminal PEST motif, which serves as a protein-protein interaction domain, and may be related to protein intracellular half-life. This PTP was found to bind and dephosphorylate the product of oncogene c-ABL, thus may play a role in oncogenesis. This PTP was shown to interact with, and dephosphorylate, various of cytoskeleton and cell adhesion molecules, such as p130 (Cas), CAKbeta/PTK2B, PSTPIP1, and paxillin, which suggested its regulatory roles in controlling cell shape and mobility. | SP Function: | Gene Ontology:
cellular component: molecular function: molecular function: biological process: cellular component: |
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 : H003877_01
Name: Furin (paired basic amino acid cleaving enzyme) |
Sum Func: The protein encoded by this gene belongs to the subtilisin-like proprotein convertase family. The members of this family are proprotein convertases that process latent precursor proteins into their biologically active products. This encoded protein is a calcium-dependent serine endoprotease that can efficiently cleave precursor proteins at their paired basic amino acid processing sites. Some of its substrates are: proparathyroid hormone, transforming growth factor beta 1 precursor, proalbumin, pro-beta-secretase, membrane type-1 matrix metalloproteinase, beta subunit of pro-nerve growth factor and von Willebrand factor. It is also thought to be one of the proteases responsible for the activation of HIV envelope glycoproteins gp160 and gp140. This gene is thought to play a role in tumor progression. The use of alternate polyadenylation sites has been found for this gene. | SP Function: furin is likely to represent the ubiquitous endoprotease activity within constitutive secretory pathways and capable of cleavage at the RX(k/r)r consensus motif. | Gene Ontology:
cellular component: biological process: molecular function: molecular function: cellular component: biological process: molecular function: |
BioCarta Pathways:
1: Proteolysis and Signaling Pathway of Notch |
KEGG Pathways: |
| Unique id : H001703_01
Name: Protein phosphatase 2 (formerly 2A), regulatory subunit B”, alpha |
Sum Func: The product of this gene belongs to the phosphatase 2 regulatory subunit B family. Protein phosphatase 2 is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. The B regulatory subunit might modulate substrate selectivity and catalytic activity. This gene encodes an alpha isoform of the regulatory subunit B72/B130 subfamily. Alternatively spliced transcript variants encoding different isoforms have been identified. | SP Function: the b regulatory subunit might modulate substrate selectivity and catalytic activity, and also might direct the localization of the catalytic enzyme to a particular subcellular compartment. | Gene Ontology:
molecular function: molecular function: biological process: 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 |
| Unique id : H015748_01
Name: Serine/threonine kinase 11 (Peutz-Jeghers syndrome) |
Sum Func: | SP Function: may be a member of a yet unidentified signaling pathway and it may act as a tumor-suppressor. | Gene Ontology:
molecular function: biological process: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H001347_01
Name: Protein tyrosine phosphatase, non-receptor type 18 (brain-derived) |
Sum Func: The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP contains a PEST motif, which often serves as a protein-protein interaction domain, and may be related to protein intracellular half-live. This gene was found to be expressed in brain, colon tissues, and several different tumor-derived cell lines. The biological function of this PTP has not yet been determined. | SP Function: differentially dephosphorylate autophosphorylated tyrosine kinases which are known to be overexpressed in tumor tissues. | Gene Ontology:
molecular function: molecular function: biological process: biological process: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H015456_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 : H007319_01
Name: Histone deacetylase 5 |
Sum Func: Histones play a critical role in transcriptional regulation, cell cycle progression, and developmental events. Histone acetylation/deacetylation alters chromosome structure and affects transcription factor access to DNA. The protein encoded by this gene belongs to the class II histone deacetylase/acuc/apha family. It possesses histone deacetylase activity and represses transcription when tethered to a promoter. It coimmunoprecipitates only with HDAC3 family member and might form multicomplex proteins. It also interacts with myocyte enhancer factor-2 (MEF2) proteins, resulting in repression of MEF2-dependent genes. This gene is thought to be associated with colon cancer. Two transcript variants encoding different isoforms have been noted for this gene. | SP Function: | Gene Ontology:
biological process: biological process: biological process: cellular component: molecular function: cellular component: molecular function: biological process: biological process: cellular component: biological process: biological process: molecular function: molecular function: |
BioCarta Pathways:
1: Control of skeletal myogenesis by HDAC & calcium/calmodulin-dependent kinase (CaMK) 2: Regulation of PGC-1a |
KEGG Pathways: |
| Unique id : H005412_01
Name: Protein phosphatase 2, regulatory subunit B (B56), delta isoform |
Sum Func: The product of this gene belongs to the phosphatase 2A regulatory subunit B family. Protein phosphatase 2A is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. The B regulatory subunit might modulate substrate selectivity and catalytic activity. This gene encodes a delta isoform of the regulatory subunit B56 subfamily. Alternatively spliced transcript variants encoding different isoforms have been identified. | SP Function: the b regulatory subunit might modulate substrate selectivity and catalytic activity, and also might direct the localization of the catalytic enzyme to a particular subcellular compartment. | Gene Ontology:
biological process: cellular component: molecular function: cellular component: molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H013300_01
Name: Pyruvate dehydrogenase kinase, isoenzyme 2 |
Sum Func: | SP Function: inhibits the mitochondrial pyruvate dehydrogenase complex by phosphorylation of the e1 alpha subunit, thus contributing to the regulation of glucose metabolism. | Gene Ontology:
molecular function: molecular function: biological process: cellular component: biological process: molecular function: molecular function: |
BioCarta Pathways:
1: Regulation of eIF4e and p70 S6 Kinase 2: Skeletal muscle hypertrophy is regulated via AKT/mTOR pathway 3: mTOR Signaling Pathway 4: PTEN dependent cell cycle arrest and apoptosis |
KEGG Pathways: |
| Unique id : H001923_01
Name: Protein kinase, cGMP-dependent, type I |
Sum Func: | SP Function: | Gene Ontology:
molecular function: molecular function: biological process: cellular component: molecular function: molecular function: biological process: molecular function: biological process: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H001896_01
Name: Protein phosphatase 1, catalytic subunit, beta isoform |
Sum Func: The protein encoded by this gene is one of the three catalytic subunits of protein phosphatase 1 (PP1). PP1 is a serine/threonine specific protein phosphatase known to be involved in the regulation of a variety of cellular processes, such as cell division, glycogen metabolism, muscle contractility, protein synthesis, and HIV-1 viral transcription. Mouse studies suggest that PP1 functions as a suppressor of learning and memory. At least three alternatively spliced transcript variants encoding two distinct isoforms have been observed. | SP Function: | Gene Ontology: | BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002495_01
Name: Protein tyrosine phosphatase, receptor type, N |
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 a single catalytic domain, and thus represents a receptor-type PTP. This PTP was found to be an autoantigen that is reactive with insulin-dependent diabetes mellitus (IDDM) patient sera, and thus may be a potential target of autoimmunity in diabetes mellitus. | SP Function: implicated in neuroendocrine secretory processes. may be involved in processes specific for neurosecretory granules, such as their biogenesis, trafficking or regulated exocytosis or may have a general role in neuroendocrine functions. seems to lack intrinsic enzyme activity. may play a role in the regulation of secretory granules via its interaction with sntb2. | Gene Ontology:
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 : H003698_01
Name: Protein tyrosine phosphatase, non-receptor type 1 |
Sum Func: The protein encoded by this gene is the founding member of the protein tyrosine phosphatase (PTP) family, which was isolated and identified based on its enzymatic activity and amino acid sequence. PTPs catalyze the hydrolysis of the phosphate monoesters specifically on tyrosine residues. 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. This PTP has been shown to act as a negative regulator of insulin signaling by dephosphorylating the phosphotyrosine residues of insulin receptor kinase. This PTP was also reported to dephosphorylate epidermal growth factor receptor kinase, as well as JAK2 and TYK2 kinases, which implicated the role of this PTP in cell growth control, and cell response to interferon stimulation. | SP Function: may play an important role in ckii-and p60c-src-induced signal transduction cascades (by similarity). | Gene Ontology:
cellular component: molecular function: biological process: molecular function: biological process: cellular component: |
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 : H001721_01
Name: Protein phosphatase 5, catalytic subunit |
Sum Func: | SP Function: may play a role in the regulation of rna biogenesis and/or mitosis. in vitro, dephosphorylates serine residues of skeletal muscle phosphorylase and histone h1. | Gene Ontology:
cellular component: molecular function: molecular function: biological process: cellular component: biological process: biological process: molecular function: molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H000479_01
Name: Dual specificity phosphatase 8 |
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 inactivates SAPK/JNK and p38, is expressed predominantly in the adult brain, heart, and skeletal muscle, is localized in the cytoplasm, and is induced by nerve growth factor and insulin. An intronless pseudogene for DUSP8 is present on chromosome 10q11.2. | SP Function: this protein shows both activity toward tyrosine-protein phosphate as well as with serine/threonine-protein phosphate (by similarity). | Gene Ontology:
molecular function: cellular component: molecular function: biological process: cellular component: biological process: molecular function: |
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 : H007840_01
Name: KIAA0508 protein |
Sum Func: | SP Function: may play a role in terminal differentiation of skeletal muscle cells but not in the determination of cells to the myogenic lineage. | Gene Ontology:
biological process: biological process: molecular function: cellular component: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H001646_01
Name: Dual specificity phosphatase 3 (vaccinia virus phosphatase VH1-related) |
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 are 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 maps in a region that contains the BRCA1 locus which confers susceptibility to breast and ovarian cancer. Although DUSP3 is expressed in both breast and ovarian tissues, mutation screening in breast cancer pedigrees and in sporadic tumors was negative, leading to the conclusion that this gene is not BRCA1. | SP Function: this protein shows activity both toward tyrosine-protein phosphate as well as with serine-protein phosphate. | Gene Ontology:
molecular function: biological process: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H001681_01
Name: Protein kinase C, theta |
Sum Func: Protein kinase C (PKC) is a family of serine- and threonine-specific protein kinases that can be activated by calcium and the second messenger diacylglycerol. PKC family members phosphorylate a wide variety of protein targets and are known to be involved in diverse cellular signaling pathways. PKC family members also serve as major receptors for phorbol esters, a class of tumor promoters. Each member of the PKC family has a specific expression profile and is believed to play a distinct role. The protein encoded by this gene is one of the PKC family members. It is a calcium-independent and phospholipid-dependent protein kinase. This kinase is important for T-cell activation. It is required for the activation of the transcription factors NF-kappaB and AP-1, and may link the T cell receptor (TCR) signaling complex to the activation of the transcription factors. | SP Function: pkc is activated by diacylglycerol which in turn phosphorylates a range of cellular proteins. pkc also serves as the receptor for phorbol esters, a class of tumor promoters. | Gene Ontology:
molecular function: molecular function: cellular component: biological process: biological process: molecular function: biological process: molecular function: |
BioCarta Pathways:
1: Keratinocyte Differentiation |
KEGG Pathways:
3: Phosphatidylinositol signaling system 8: Gap junction 9: Natural killer cell mediated cytotoxicity |
| Unique id : H003160_01
Name: RYK receptor-like tyrosine kinase |
Sum Func: The protein encoded by this gene is an atypical member of the family of growth factor receptor protein tyrosine kinases, differing from other members at a number of conserved residues in the activation and nucleotide binding domains. This gene product belongs to a subfamily whose members do not appear to be regulated by phosphorylation in the activation segment. It has been suggested that mediation of biological activity by recruitment of a signaling-competent auxiliary protein may occur through an as yet uncharacterized mechanism. Two alternative splice variants have been identified, encoding distinct isoforms. | SP Function: potential growth factor receptor protein tyrosine kinase. | Gene Ontology:
molecular function: cellular component: biological process: 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 : H001596_01
Name: Protein kinase C, gamma |
Sum Func: Protein kinase C (PKC) is a family of serine- and threonine-specific protein kinases that can be activated by calcium and second messenger diacylglycerol. PKC family members phosphorylate a wide variety of protein targets and are known to be involved in diverse cellular signaling pathways. PKC also serve as major receptors for phorbol esters, a class of tumor promoters. Each member of the PKC family has a specific expression profile and is believed to play distinct roles in cells. The protein encoded by this gene is one of the PKC family members. This protein kinase is expressed solely in the brain and spinal cord and its localization is restricted to neurons. It has been demonstrated that several neuronal functions, including long term potentiation (LTP) and long term depression (LTD), specifically require this kinase. Knockout studies in mice also suggest that this kinase may be involved in neuropathic pain development. Defects in this protein have been associated with neurodegenerative disorder spinocerebellar ataxia-14 (SCA14). | SP Function: pkc is activated by diacylglycerol which in turn phosphorylates a range of cellular proteins. pkc also serves as the receptor for phorbol esters, a class of tumor promoters. | Gene Ontology:
molecular function: molecular function: molecular function: biological process: biological process: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003541_01
Name: Protein tyrosine phosphatase, non-receptor type 9 |
Sum Func: The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP contains an N-terminal domain that shares a significant similarity with yeast SEC14, which is a protein that has phosphatidylinositol transfer activity and is required for protein secretion through the Golgi complex in yeast. This PTP was found to be activated by polyphosphoinositide, and is thought to be involved in signaling events regulating phagocytosis. | SP Function: protein-tyrosine phosphatase that could participate in the transfer of hydrophobic ligands or in functions of the golgi apparatus. | Gene Ontology:
molecular function: cellular component: molecular function: biological process: biological process: 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 : H002806_01
Name: Protein tyrosine phosphatase, receptor type, N polypeptide 2 |
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 a single intracellular catalytic domain, and thus represents a receptor-type PTP. The catalytic domain of this PTP is most closely related to PTPRN/IA-2beta. This PTP and PTPRN are both found to be major autoantigens associated with insulin-dependent diabetes mellitus. Three alternatively spliced transcript variants of this gene, which encode distinct proteins, have been reported. | SP Function: implicated in development of nervous system and pancreatic endocrine cells. | 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 : H003074_01
Name: Protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), alpha isoform |
Sum Func: The product of this gene belongs to the phosphatase 2 regulatory subunit B family. Protein phosphatase 2 is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. The B regulatory subunit might modulate substrate selectivity and catalytic activity. This gene encodes an alpha isoform of the regulatory subunit B55 subfamily. | SP Function: | Gene Ontology: | BioCarta Pathways: | KEGG Pathways: |
| Unique id : H001766_01
Name: Protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte) |
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 protein contains a C-terminal PTP domain and an N-terminal domain homologous to the band 4.1 superfamily of cytoskeletal-associated proteins. This PTP has been shown to interact with glutamate receptor delta 2 and epsilon subunits, and is thought to play a role in signaling downstream of the glutamate receptors through tyrosine dephosphorylation. | SP Function: may act at junctions between the membrane and the cytoskeleton. | Gene Ontology:
molecular function: cellular component: molecular function: cellular component: molecular function: biological process: 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 : H001353_01
Name: Casein kinase 1, epsilon |
Sum Func: The protein encoded by this gene is a serine/threonine protein kinase and a member of the casein kinase I protein family, whose members have been implicated in the control of cytoplasmic and nuclear processes, including DNA replication and repair. The encoded protein is found in the cytoplasm as a monomer and can phosphorylate a variety of proteins, including itself. This protein has been shown to phosphorylate period, a circadian rhythm protein. Two transcript variants encoding the same protein 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. phosphorylates dvl1. | Gene Ontology:
molecular function: biological process: molecular function: biological process: molecular function: biological process: molecular function: |
BioCarta Pathways:
1: Circadian Rhythms |
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 : H000464_01
Name: Protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), beta isoform |
Sum Func: This gene encodes a constant regulatory subunit of protein phosphatase 2. Protein phosphatase 2 is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. The constant regulatory subunit A serves as a scaffolding molecule to coordinate the assembly of the catalytic subunit and a variable regulatory B subunit. This gene encodes a beta isoform of the constant regulatory subunit A. Defects in this gene could be the cause of some lung and colon cancers. At least two transcript variants encoding different isoforms have been found for this gene. | SP Function: the pr65 subunit of protein phosphatase 2a serves as a scaffolding molecule to coordinate the assembly of the catalytic subunit and a variable regulatory b subunit. | Gene Ontology:
biological process: molecular function: biological process: cellular component: biological process: biological process: cellular component: cellular component: cellular component: biological process: biological process: cellular component: molecular function: biological process: molecular function: biological process: molecular function: molecular function: cellular component: molecular function: biological process: biological process: biological process: biological process: biological process: biological process: biological process: biological process: biological process: biological process: cellular component: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H001448_01
Name: Protease, serine, 25 |
Sum Func: This gene encodes a serine protease. The protein has been localized in the endoplasmic reticulum and interacts with an alternatively spliced form of mitogen-activated protein kinase 14. The protein has also been localized to the mitochondria with release to the cytosol following apoptotic stimulus. The protein is thought to induce apoptosis by binding the apoptosis inhibitory protein baculoviral IAP repeat-containing 4. Nuclear localization of this protein has also been observed. Alternate splicing of this gene results in two transcript variants encoding different isoforms. Additional transcript variants have been described, but their full-length sequences have not been determined. | SP Function: serine protease that shows proteolytic activity against a nonspecific substrate beta-casein. promotes or induces cell death either by direct binding to and inhibition of birc proteins (also called inhibitor of apoptosis proteins, iaps), leading to an increase in caspase activity, or by a birc inhibition-independent, caspase-independent and serine protease activity-dependent mechanism. isoform 2 seems to be proteolytically inactive. | Gene Ontology:
biological process: cellular component: cellular component: cellular component: cellular component: biological process: biological process: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002802_01
Name: Neural precursor cell expressed, developmentally down-regulated 8 |
Sum Func: | SP Function: may play an important role during the embryonic development and differentiation of the central nervous system. may play an essential role in eukaryotic cellular metabolism (by similarity). | Gene Ontology:
biological process: cellular component: biological process: molecular function: biological process: biological process: |
BioCarta Pathways:
1: Regulation of p27 Phosphorylation during Cell Cycle Progression |
KEGG Pathways: |
| Unique id : H003109_01
Name: CDC28 protein kinase regulatory subunit 1B |
Sum Func: CKS1B protein binds to the catalytic subunit of the cyclin dependent kinases and is essential for their biological function. The CKS1B mRNA is found to be expressed in different patterns through the cell cycle in HeLa cells, which reflects a specialized role for the encoded protein. | SP Function: | Gene Ontology:
biological process: molecular function: biological process: |
BioCarta Pathways:
1: Regulation of p27 Phosphorylation during Cell Cycle Progression |
KEGG Pathways: |
| Unique id : H008244_01
Name: S-phase kinase-associated protein 1A (p19A) |
Sum Func: This gene encodes an F-box protein which functions as a substrate recognition component of the SCF ubiquitin ligase complex. It binds to cyclin F, S-phase kinase-associated protein 2, and other regulatory proteins involved in ubiquitin proteolysis through an F-box motif. The encoded protein also collaborates with a network of proteins to control beta-catenin levels and affects the activity level of beta-catenin dependent TCF transcription factors. Studies have also characterized the protein as an RNA polymerase II elongation factor. Alternative splicing of this gene results in two transcript variants. A related pseudogene has been identified on chromosome 7. | SP Function: | Gene Ontology: | BioCarta Pathways:
1: ER–associated degradation (ERAD) Pathway 2: Cyclin E Destruction Pathway 3: Regulation of p27 Phosphorylation during Cell Cycle Progression 4: E2F1 Destruction Pathway |
KEGG Pathways: |
| Unique id : H003191_01
Name: Retinoblastoma-like 2 (p130) |
Sum Func: | SP Function: may have a function in cell cycle regulation. binds to and may be involved in the transforming capacity of the adenovirus e1a protein. may act as a tumor suppressor. potent inhibitor of e2f-mediated trans-activation, associates preferentially with e2f5. binds to cyclins a and e. | Gene Ontology:
molecular function: biological process: biological process: cellular component: molecular function: biological process: |
BioCarta Pathways:
1: METS affect on Macrophage Differentiation |
KEGG Pathways: |
| Unique id : H004340_01
Name: 3′(2′), 5′-bisphosphate nucleotidase 1 |
Sum Func: BPNT1, also called bisphosphate 3-prime-nucleotidase, or BPntase, is a member of a magnesium-dependent phosphomonoesterase family. Lithium, a major drug used to treat manic depression, acts as an uncompetitive inhibitor of BPntase. The predicted human protein is 92% identical to mouse BPntase. BPntase’s physiologic role in nucleotide metabolism may be regulated by inositol signaling pathways. The inhibition of human BPntase may account for lithium-induced nephrotoxicity. | SP Function: | Gene Ontology: | BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002296_01
Name: RAB5B, member RAS oncogene family |
Sum Func: | SP Function: | Gene Ontology:
molecular function: molecular function: cellular component: biological process: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H001623_01
Name: RAB3A, member RAS oncogene family |
Sum Func: | SP Function: involved in exocytosis by regulating a late step in synaptic vesicle fusion. could play a role in neurotransmitter release by regulating membrane flow in the nerve terminal. | Gene Ontology:
molecular function: molecular function: biological process: biological process: biological process: biological process: cellular component: |
BioCarta Pathways:
1: Rab GTPases Mark Targets In The Endocytotic Machinery |
KEGG Pathways: |
| Unique id : H001739_01
Name: Adaptor-related protein complex 2, mu 1 subunit |
Sum Func: This gene encodes a subunit of the heterotetrameric coat assembly protein complex 2 (AP2), which belongs to the adaptor complexes medium subunits family. The encoded protein is required for the activity of a vacuolar ATPase, which is responsible for proton pumping occurring in the acidification of endosomes and lysosomes. The encoded protein may also play an important role in regulating the intracellular trafficking and function of CTLA-4 protein. | SP Function: | Gene Ontology:
cellular component: cellular component: biological process: molecular function: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H001641_01
Name: RAB5C, member RAS oncogene family |
Sum Func: | SP Function: protein transport. probably involved in vesicular traffic (by similarity). | Gene Ontology:
molecular function: molecular function: biological process: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H001711_01
Name: RAB3B, member RAS oncogene family |
Sum Func: | SP Function: protein transport. probably involved in vesicular traffic (by similarity). | Gene Ontology:
molecular function: molecular function: biological process: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H001723_01
Name: RAB4A, member RAS oncogene family |
Sum Func: | SP Function: protein transport. probably involved in vesicular traffic (by similarity). | Gene Ontology:
molecular function: molecular function: biological process: biological process: |
BioCarta Pathways:
1: Rab GTPases Mark Targets In The Endocytotic Machinery |
KEGG Pathways: |
| Unique id : H001731_01
Name: RAB6A, member RAS oncogene family |
Sum Func: | SP Function: protein transport. regulator of membrane traffic from the golgi apparatus towards the endoplasmic reticulum (er). has a low gtpase activity. | Gene Ontology:
molecular function: molecular function: cellular component: biological process: biological process: |
BioCarta Pathways:
1: Rab GTPases Mark Targets In The Endocytotic Machinery |
KEGG Pathways: |
| Unique id : H001719_01
Name: Golgi autoantigen, golgin subfamily a, 4 |
Sum Func: The Golgi apparatus, which participates in glycosylation and transport of proteins and lipids in the secretory pathway, consists of a series of stacked cisternae (flattened membrane sacs). Interactions between the Golgi and microtubules are thought to be important for the reorganization of the Golgi after it fragments during mitosis. The golgins are a family of proteins, of which the protein encoded by this gene is a member, that are localized to the Golgi. This protein has been postulated to play a role in Rab6-regulated membrane-tethering events in the Golgi apparatus. Alternative splice variants have been described but their full-length nature has not been determined. | SP Function: may play a role in vesicular transport from the trans- golgi. | Gene Ontology:
cellular component: cellular component: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H005768_01
Name: ARP1 actin-related protein 1 homolog A, centractin alpha (yeast) |
Sum Func: This gene encodes a 42.6 kD subunit of dynactin, a macromolecular complex consisting of 10-11 subunits ranging in size from 22 to 150 kD. Dynactin binds to both microtubules and cytoplasmic dynein. It is involved in a diverse array of cellular functions, including ER-to-Golgi transport, the centripetal movement of lysosomes and endosomes, spindle formation, chromosome movement, nuclear positioning, and axonogenesis. This subunit is present in 8-13 copies per dynactin molecule, and is the most abundant molecule in the dynactin complex. It is an actin-related protein, and is approximately 60% identical at the amino acid level to conventional actin. | SP Function: | Gene Ontology:
cellular component: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H007601_01
Name: RAB27A, member RAS oncogene family |
Sum Func: The protein encoded by this gene belongs to the small GTPase superfamily, Rab family. The protein is membrane-bound and may be involved in protein transport and small GTPase mediated signal transduction. Mutations in this gene are associated with Griscelli syndrome type 2. Alternative splicing occurs at this locus and four transcript variants encoding the same protein have been identified. | SP Function: | Gene Ontology:
molecular function: molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H001985_01
Name: RAB13, member RAS oncogene family |
Sum Func: | SP Function: could participate in polarized transport, in the assembly and/or the activity of tight junctions. | Gene Ontology:
molecular function: molecular function: biological process: biological process: biological process: cellular component: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H012333_01
Name: RAB27B, member RAS oncogene family |
Sum Func: | SP Function: | Gene Ontology:
molecular function: molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H001910_01
Name: RAB11A, member RAS oncogene family |
Sum Func: The protein encoded by this gene belongs to the small GTPase superfamily, Rab family. It is associated with both constitutive and regulated secretory pathways, and may be involved in protein transport. | SP Function: | Gene Ontology:
molecular function: biological process: biological process: |
BioCarta Pathways:
1: Rab GTPases Mark Targets In The Endocytotic Machinery |
KEGG Pathways: |
| Unique id : H010181_01
Name: RAB7, member RAS oncogene family-like 1 |
Sum Func: | SP Function: | Gene Ontology:
molecular function: molecular function: biological process: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H007884_01
Name: Toll interacting protein |
Sum Func: | SP Function: component of the signaling pathway of il-1 and toll-like receptors. inhibits cell activation by microbial products. recruits irak1 to the il-1 receptor complex. inhibits irak1 phosphorylation and kinase activity. | Gene Ontology:
molecular function: cellular component: biological process: biological process: cellular component: cellular component: biological process: biological process: 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: Toll-Like Receptor Pathway |
KEGG Pathways: |
| Unique id : H006060_01
Name: Likely ortholog of mouse signaling intermediate in Toll pathway-evolutionarily conserved |
Sum Func: | SP Function: | Gene Ontology: | BioCarta Pathways:
1: Signal transduction through IL1R 2: Toll-Like Receptor Pathway |
KEGG Pathways: |
| Unique id : H002076_01
Name: Interleukin-1 receptor-associated kinase 1 |
Sum Func: IRAK1 encodes the interleukin-1 receptor-associated kinase 1, one of two putative serine/threonine kinases that become associated with the interleukin-1 receptor (IL1R) upon stimulation. IRAK1 is partially responsible for IL1-induced upregulation of the transcription factor NF-kappa B. | SP Function: binds to the il-1 type i receptor following il-1 engagement, triggering intracellular signaling cascades leading to transcriptional up-regulation and mrna stabilization. isoform 1 binds rapidly but is then degraded allowing isoform 2 to mediate a slower, more sustained response to the cytokine. isoform 2 is inactive suggesting that the kinase activity of this enzyme is not required for il-1 signaling. once phosphorylated, irak1 recruits the adapter protein peli1. | Gene Ontology:
molecular function: molecular function: biological process: biological process: biological process: biological process: cellular component: molecular function: biological process: biological process: biological process: biological process: molecular function: molecular function: molecular function: molecular function: molecular function: molecular function: molecular function: molecular function: biological process: biological process: molecular function: molecular function: molecular function: biological process: biological process: |
BioCarta Pathways:
1: Inactivation of Gsk3 by AKT causes accumulation of b-catenin in Alveolar Macrophages 2: NF-kB Signaling Pathway 3: Toll-Like Receptor Pathway |
KEGG Pathways: |
| Unique id : H011421_01
Name: Toll-like receptor 3 |
Sum Func: The protein encoded by this gene is a member of the Toll-like receptor (TLR) family which plays a fundamental role in pathogen recognition and activation of innate immunity. TLRs are highly conserved from Drosophila to humans and share structural and functional similarities. They recognize pathogen-associated molecular patterns (PAMPs) that are expressed on infectious agents, and mediate the production of cytokines necessary for the development of effective immunity. The various TLRs exhibit different patterns of expression. This receptor is most abundantly expressed in placenta and pancreas, and is restricted to the dendritic subpopulation of the leukocytes. It recognizes dsRNA associated with viral infection, and induces the activation of NF-kappaB and the production of type I interferons. It may thus play a role in host defense against viruses. Use of alternative polyadenylation sites to generate different length transcripts has been noted for this gene. | SP Function: participates in the innate immune response to microbial agents. may be involved in the recognition of ds-rna. acts via myd88 and traf6, leading to nf-kappa-b activation, cytokine secretion and the inflammatory response (by similarity). | Gene Ontology:
biological process: biological process: biological process: molecular function: biological process: biological process: biological process: cellular component: biological process: biological process: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H006116_01
Name: Lymphocyte antigen 96 |
Sum Func: The MD-2 protein appears to associate with toll-like receptor 4 on the cell surface and confers responsiveness to lipopolysaccharide (LPS), thus providing a link between the receptor and LPS signaling. | SP Function: cooperates with tlr4 in the innate immune response to bacterial lipopolysaccharide (lps), and with tlr2 in the response to cell wall components from gram-positive and gram-negative bacteria. enhances tlr4-dependent activation of nf-kappa-b. cells expressing both md2 and tlr4, but not tlr4 alone, respond to lps. | Gene Ontology:
biological process: biological process: biological process: molecular function: biological process: cellular component: |
BioCarta Pathways:
1: Inactivation of Gsk3 by AKT causes accumulation of b-catenin in Alveolar Macrophages 2: Toll-Like Receptor Pathway |
KEGG Pathways: |
| Unique id : H002569_01
Name: Thymidine kinase 1, soluble |
Sum Func: | SP Function: | Gene Ontology:
molecular function: biological process: cellular component: molecular function: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H000456_01
Name: Adenylate kinase 3 |
Sum Func: This gene encodes a member of the adenylate kinase family of enzymes. The encoded protein is localized to the mitochondrial matrix. Adenylate kinases regulate the adenine and guanine nucleotide compositions within a cell by catalyzing the reversible transfer of phosphate group among these nucleotides. Five isozymes of adenylate kinase have been identified in vertebrates. Expression of these isozymes is tissue-specific and developmentally regulated. A pseudogene for this gene has been located on chromosome 17. Three transcript variants encoding the same protein have been identified for this gene. Sequence alignment suggests that the gene defined by NM_013410, NM_203464, and NM_001005353 is located on chromosome 1. | SP Function: | Gene Ontology:
molecular function: molecular function: molecular function: molecular function: cellular component: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H000522_01
Name: Cytidine deaminase |
Sum Func: | SP Function: this enzyme scavenge exogenous and endogenous cytidine and 2′-deoxycytidine for ump synthesis. | Gene Ontology:
molecular function: biological process: molecular function: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002522_01
Name: Dihydropyrimidine dehydrogenase |
Sum Func: Dihydropyrimidine dehydrogenase (DPYD) is a pyrimidine catabolic enzyme and the initial and rate-limiting step in the pathway of uracil and thymidine catabolism and also in the pathway leading to the formation of beta-alanine. The DPYD gene is a large gene of approximately 150 kb consisting of 23 exons encoding a protein of approximately 111-kDa. Genetic deficiency of DPYD enzyme results in an error in pyrimidine metabolism associated with thymine-uraciluria and an increased risk of toxicity in cancer patients receiving 5-flourouracil chemotherapy. | SP Function: involved in pyrimidine base degradation. catalyzes the reduction of uracil and thymine. also involved the degradation of the chemotherapeutic drug 5-fluorouracil. | Gene Ontology:
biological process: cellular component: molecular function: molecular function: molecular function: molecular function: biological process: molecular function: molecular function: biological process: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H000658_01
Name: Uridine monophosphate synthetase (orotate phosphoribosyl transferase and orotidine-5′-decarboxylase) |
Sum Func: | SP Function: | Gene Ontology:
biological process: biological process: molecular function: biological process: molecular function: molecular function: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H000484_01
Name: CTP synthase |
Sum Func: The catalytic conversion of UTP to CTP is accomplished by the enzyme cytidine-5-prime-triphosphate synthetase. The enzyme is important in the biosynthesis of phospholipids and nucleic acids, and plays a key role in cell growth, development, and tumorigenesis. The region to which the CTPS gene has been mapped is the location of breakpoints involved in several tumor types | SP Function: catalyzes the atp-dependent amination of utp to ctp with either l-glutamine or ammonia as the source of nitrogen. | Gene Ontology:
molecular function: biological process: molecular function: biological process: biological process: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H001323_01
Name: Tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta polypeptide |
Sum Func: This gene product belongs to the 14-3-3 family of proteins which mediate signal transduction by binding to phosphoserine-containing proteins. This highly conserved protein family is found in both plants and mammals, and this protein is 99% identical to the mouse and rat orthologs. This gene is upregulated in patients with amyotrophic lateral sclerosis. It contains in its 5′ UTR a 6 bp tandem repeat sequence which is polymorphic, however, there is no correlation between the repeat number and the disease. | SP Function: activates tyrosine and tryptophan hydroxylases in the presence of ca(2+)/calmodulin-dependent protein kinase ii, and strongly activates protein kinase c. is probably a multifunctional regulator of the cell signaling processes mediated by both kinases. | Gene Ontology:
biological process: molecular function: molecular function: biological process: |
BioCarta Pathways:
1: Cell Cycle: G2/M Checkpoint |
KEGG Pathways: |
| Unique id : H007143_01
Name: Myelin transcription factor 1 |
Sum Func: The protein encoded by this gene is a member of a family of neural specific, zinc finger-containing DNA-binding proteins. The protein binds to the promoter regions of proteolipid proteins of the central nervous system and plays a role in the developing nervous system. | SP Function: binds to the promoter regions of proteolipid proteins of the central nervous system. | Gene Ontology:
cellular component: biological process: molecular function: molecular function: |
BioCarta Pathways:
1: cdc25 and chk1 Regulatory Pathway in response to DNA damage 2: Cell Cycle: G2/M Checkpoint 3: How Progesterone Initiates the Oocyte Maturation 4: RB Tumor Suppressor/Checkpoint Signaling in response to DNA damage |
KEGG Pathways: |
| Unique id : H008573_01
Name: Myelin transcription factor 1 |
Sum Func: The protein encoded by this gene is a member of a family of neural specific, zinc finger-containing DNA-binding proteins. The protein binds to the promoter regions of proteolipid proteins of the central nervous system and plays a role in the developing nervous system. | SP Function: binds to the promoter regions of proteolipid proteins of the central nervous system. | Gene Ontology:
cellular component: biological process: molecular function: molecular function: |
BioCarta Pathways:
1: cdc25 and chk1 Regulatory Pathway in response to DNA damage 2: Cell Cycle: G2/M Checkpoint 3: How Progesterone Initiates the Oocyte Maturation 4: RB Tumor Suppressor/Checkpoint Signaling in response to DNA damage |
KEGG Pathways: |
| Unique id : H001660_01
Name: Dynamin 1 |
Sum Func: Dynamins represent one of the subfamilies of GTP-binding proteins. These proteins share considerable sequence similarity over the N-terminal portion of the molecule, which contains the GTPase domain. Dynamins are associated with microtubules. They have been implicated in cell processes such as endocytosis and cell motility, and in alterations of the membrane that accompany certain activities such as bone resorption by osteoclasts. Dynamins bind many proteins that bind actin and other cytoskeletal proteins. Dynamins can also self-assemble, a process that stimulates GTPase activity. This gene is located on chromosome 9. More than sixty highly conserved copies of the 3′ region of this gene are found on other chromosomes, particularly chromosomes Y and 15. These copies are referred to as DNM1DN duplicons. Multiple splice variants exist for this gene but only two alternatively spliced transcripts encoding distinct isoforms have been described completely. | SP Function: microtubule-associated force-producing protein involved in producing microtubule bundles and able to bind and hydrolyze gtp. most probably involved in vesicular trafficking processes, in particular endocytosis. | Gene Ontology:
molecular function: molecular function: cellular component: molecular function: molecular function: molecular function: biological process: biological process: |
BioCarta Pathways:
1: Roles of ß-arrestin-dependent Recruitment of Src Kinases in GPCR Signaling 2: ß-arrestins in GPCR Desensitization 3: Role of ß-arrestins in the activation and targeting of MAP kinases 4: Gamma-aminobutyric Acid Receptor Life Cycle 5: Endocytotic role of NDK, Phosphins and Dynamin |
KEGG Pathways: |
| Unique id : H001124_01
Name: Gamma-aminobutyric acid (GABA) A receptor, alpha 1 |
Sum Func: GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazepines that bind to the GABA-A receptor. At least 16 distinct subunits of GABA-A receptors have been identified. | SP Function: gaba, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by binding to the gaba/benzodiazepine receptor and opening an integral chloride channel. | Gene Ontology:
molecular function: biological process: molecular function: biological process: cellular component: molecular function: biological process: molecular function: cellular component: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H005952_01
Name: Gephyrin |
Sum Func: To integrate signals from the many synaptic connections on its cell body and dendrites rapidly and specifically, a neuron anchors high concentrations of receptors at postsynaptic sites, matching the correct receptor with the neurotransmitter released from the presynaptic terminal. Receptor-associated proteins are thought to be involved in forming these postsynaptic specializations, possibly by linking the receptor to the postsynaptic cytoskeleton. Gephyrin is essential for both the postsynaptic localization of inhibitory neurotransmitter receptors in the central nervous system and the biosynthesis of the molybdenum cofactor in different peripheral organs.[supplied by OMIM] | SP Function: | Gene Ontology:
biological process: molecular function: cellular component: |
BioCarta Pathways:
1: Gamma-aminobutyric Acid Receptor Life Cycle |
KEGG Pathways: |
| Unique id : H002383_01
Name: Gamma-aminobutyric acid (GABA) A receptor, alpha 3 |
Sum Func: GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazepines that bind to the GABA-A receptor. At least 16 distinct subunits of GABA-A receptors have been identified | SP Function: gaba, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by binding to the gaba/benzodiazepine receptor and opening an integral chloride channel. | Gene Ontology:
molecular function: molecular function: biological process: molecular function: biological process: cellular component: molecular function: biological process: cellular component: biological process: |
BioCarta Pathways:
1: Cardiac Protection Against ROS 2: Gamma-aminobutyric Acid Receptor Life Cycle |
KEGG Pathways: |
| Unique id : H002906_01
Name: Protein kinase C, eta |
Sum Func: Protein kinase C (PKC) is a family of serine- and threonine-specific protein kinases that can be activated by calcium and the second messenger diacylglycerol. PKC family members phosphorylate a wide variety of protein targets and are known to be involved in diverse cellular signaling pathways. PKC family members also serve as major receptors for phorbol esters, a class of tumor promoters. Each member of the PKC family has a specific expression profile and is believed to play a distinct role in cells. The protein encoded by this gene is one of the PKC family members. It is a calcium-independent and phospholipids-dependent protein kinase. It is predominantly expressed in epithelial tissues and has been shown to reside specifically in the cell nucleus. This protein kinase can regulate keratinocyte differentiation by activating the MAP kinase MAPK13 (p38delta)-activated protein kinase cascade that targets CCAAT/enhancer-binding protein alpha (CEBPA). It is also found to mediate the transcription activation of the transglutaminase 1 (TGM1) gene. | SP Function: pkc is activated by diacylglycerol which in turn phosphorylates a range of cellular proteins. pkc also serves as the receptor for phorbol esters, a class of tumor promoters. | Gene Ontology:
molecular function: molecular function: biological process: molecular function: biological process: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways:
3: Phosphatidylinositol signaling system 8: Gap junction 9: Natural killer cell mediated cytotoxicity |
| Unique id : H002238_01
Name: Protein kinase C, delta |
Sum Func: Protein kinase C (PKC) is a family of serine- and threonine-specific protein kinases that can be activated by calcium and the second messenger diacylglycerol. PKC family members phosphorylate a wide variety of protein targets and are known to be involved in diverse cellular signaling pathways. PKC family members also serve as major receptors for phorbol esters, a class of tumor promoters. Each member of the PKC family has a specific expression profile and is believed to play distinct roles in cells. The protein encoded by this gene is one of the PKC family members. Studies both in human and mice demonstrate that this kinase is involved in B cell signaling and in the regulation of growth, apoptosis, and differentiation of a variety of cell types. Alternatively spliced transcript variants encoding the same protein have been observed. | SP Function: this is calcium-independent, phospholipid-dependent, serine- and threonine-specific enzyme. pkc is activated by diacylglycerol which in turn phosphorylates a range of cellular proteins. pkc also serves as the receptor for phorbol esters, a class of tumor promoters. may play a role in antigen-dependent control of b-cell function. | Gene Ontology:
molecular function: cellular component: molecular function: molecular function: biological process: cellular component: biological process: biological process: molecular function: molecular function: molecular function: |
BioCarta Pathways:
1: HIV-I Nef: negative effector of Fas and TNF |
KEGG Pathways:
3: Phosphatidylinositol signaling system 8: Gap junction 9: Natural killer cell mediated cytotoxicity |
| Unique id : H003139_01
Name: Integrin, beta 2 (antigen CD18 (p95), lymphocyte function-associated antigen 1; macrophage antigen 1 (mac-1) beta subunit) |
Sum Func: The ITGB2 protein product is the integrin beta chain beta 2. Integrins are integral cell-surface proteins composed of an alpha chain and a beta chain. A given chain may combine with multiple partners resulting in different integrins. For example, beta 2 combines with the alpha L chain to form the integrin LFA-1, and combines with the alpha M chain to form the integrin Mac-1. Integrins are known to participate in cell adhesion as well as cell-surface mediated signaling. | SP Function: integrin alpha-l/beta-2 is a receptor for icam1, icam2, icam3 and icam4. integrins alpha-m/beta-2 and alpha-x/beta-2 are receptors for the ic3b fragment of the third complement component and for fibrinogen. integrin alpha-x/beta-2 recognizes the sequence g-p-r in fibrinogen alpha-chain. integrin alpha-m/beta-2 recognizes p1 and p2 peptides of fibrinogen gamma chain. integrin alpha-m/beta-2 is also a receptor for factor x. integrin alpha- d/beta-2 is a receptor for icam3 and vcam1. | Gene Ontology:
biological process: biological process: biological process: biological process: biological process: biological process: cellular component: cellular component: cellular component: biological process: biological process: biological process: biological process: molecular function: molecular function: molecular function: biological process: biological process: |
BioCarta Pathways:
1: Cells and Molecules involved in local acute inflammatory response 2: B Lymphocyte Cell Surface Molecules 3: CTL mediated immune response against target cells 4: Adhesion and Diapedesis of Granulocytes 5: Adhesion and Diapedesis of Lymphocytes 6: Adhesion Molecules on Lymphocyte 7: Monocyte and its Surface Molecules 8: Neutrophil and Its Surface Molecules 9: T Cytotoxic Cell Surface Molecules 10: T Helper Cell Surface Molecules |
KEGG Pathways: |
| Unique id : H002233_01
Name: Selectin P ligand |
Sum Func: SELPLG is the high affinity counter-receptor for P-selectin on myeloid cells and stimulated T lymphocytes. As such, it plays a critical role in the tethering of these cells to activated platelets or endothelia expressing P-selectin. The organization of the SELPG gene closely resembles that of CD43 and the human platelet glycoprotein GpIb-alpha both of which have an intron in the 5-prime-noncoding region, a long second exon containing the complete coding region, and TATA-less promoters. | SP Function: binds to p-, e- and l-selectins. the calcium-dependent high affinity interaction with p-selectin mediates the tethering and rolling of neutrophils and t-lymphocytes on endothelial cells. | Gene Ontology:
molecular function: biological process: cellular component: cellular component: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002526_01
Name: Complement component 5 |
Sum Func: | SP Function: derived from proteolytic degradation of complement c5, c5 anaphylatoxin is a mediator of local inflammatory process. it induces the contraction of smooth muscle, increases vascular permeability and causes histamine release from mast cells and basophilic leukocytes. c5a also stimulates the locomotion of polymorphonuclear leukocytes (chemokinesis) and direct their migration toward sites of inflammation (chemotaxis). | Gene Ontology:
biological process: biological process: molecular function: biological process: biological process: biological process: biological process: molecular function: cellular component: biological process: cellular component: molecular function: biological process: biological process: |
BioCarta Pathways:
1: Cells and Molecules involved in local acute inflammatory response 2: Alternative Complement Pathway 3: Classical Complement Pathway 4: Complement Pathway 5: Adhesion and Diapedesis of Granulocytes 6: Lectin Induced Complement Pathway |
KEGG Pathways: |
| Unique id : H003794_01
Name: Selectin P (granule membrane protein 140kDa, antigen CD62) |
Sum Func: SELP is a platelet alpha-granule membrane protein of molecular weight 140,000 that redistributes to the plasma membrane during platelet activation and degranulation. It is a member of a family of adhesion/homing receptors. Alternative splice variants may occur but are not well documented | SP Function: ca(2+)-dependent receptor for myeloid cells that binds to carbohydrates on neutrophils and monocytes. mediates the interaction of activated endothelial cells or platelets with leukocytes. the ligand recognized is sialyl-lewis x. | Gene Ontology:
biological process: cellular component: molecular function: cellular component: molecular function: |
BioCarta Pathways:
1: Cells and Molecules involved in local acute inflammatory response 2: Eph Kinases and ephrins support platelet aggregation 3: Adhesion and Diapedesis of Granulocytes 4: Monocyte and its Surface Molecules |
KEGG Pathways: |
| Unique id : H002469_01
Name: Complement component 3 |
Sum Func: Complement component C3 plays a central role in the activation of complement system. Its activation is required for both classical and alternative complement activation pathways. People with C3 deficiency are susceptible to bacteria infection. | SP Function: derived from proteolytic degradation of complement c3, c3a anaphylatoxin is a mediator of local inflammatory process. it induces the contraction of smooth muscle, increases vascular permeability and causes histamine release from mast cells and basophilic leukocytes. | Gene Ontology:
biological process: biological process: biological process: molecular function: cellular component: biological process: biological process: molecular function: biological process: |
BioCarta Pathways:
1: Cells and Molecules involved in local acute inflammatory response 2: Alternative Complement Pathway 3: Classical Complement Pathway 4: Complement Pathway 5: Lectin Induced Complement Pathway |
KEGG Pathways: |
| Unique id : H005517_01
Name: Transaldolase 1 |
Sum Func: Transaldolase 1 is a key enzyme of the nonoxidative pentose phosphate pathway providing ribose-5-phosphate for nucleic acid synthesis and NADPH for lipid biosynthesis. This pathway can also maintain glutathione at a reduced state and thus protect sulfhydryl groups and cellular integrity from oxygen radicals. The functional gene of transaldolase 1 is located on chromosome 11 and a pseudogene is identified on chromosome 1 but there are conflicting map locations. The second and third exon of this gene were developed by insertion of a retrotransposable element. This gene is thought to be involved in multiple sclerosis. | SP Function: transaldolase is important for the balance of metabolites in the pentose-phosphate pathway. | Gene Ontology:
biological process: biological process: cellular component: biological process: molecular function: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002248_01
Name: Glucose-6-phosphate dehydrogenase |
Sum Func: This gene encodes glucose-6-phosphate dehydrogenase. This protein is a cytosolic enzyme encoded by a housekeeping X-linked gene whose main function is to produce NADPH, a key electron donor in the defense against oxidizing agents and in reductive biosynthetic reactions. G6PD is remarkable for its genetic diversity. Many variants of G6PD, mostly produced from missense mutations, have been described with wide ranging levels of enzyme activity and associated clinical symptoms. G6PD deficiency may cause neonatal jaundice, acute hemolysis, or severe chronic non-spherocytic hemolytic anemia. | SP Function: produces pentose sugars for nucleic acid synthesis and main producer of nadph reducing power. | Gene Ontology:
biological process: cellular component: biological process: biological process: molecular function: molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H001548_01
Name: Phosphogluconate dehydrogenase |
Sum Func: 6-phosphogluconate dehydrogenase is the second dehydrogenase in the pentose phosphate shunt. Deficiency of this enzyme is generally asymptomatic, and the inheritance of this disorder is autosomal dominant. Hemolysis results from combined deficiency of 6-phosphogluconate dehydrogenase and 6-phosphogluconolactonase suggesting a synergism of the two enzymopathies. | SP Function: | Gene Ontology:
molecular function: molecular function: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003868_01
Name: Hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase) |
Sum Func: There are 2 forms of glucose-6-phosphate dehydrogenase. G form is X-linked and H form, encoded by this gene, is autosomally linked. This H form shows activity with other hexose-6-phosphates, especially galactose-6-phosphate, whereas the G form is specific for glucose-6-phosphate. Both forms are present in most tissues, but H form is not found in red cells. | SP Function: oxidizes glucose-6-phosphate and glucose, as well as other hexose-6-phosphates. | Gene Ontology:
molecular function: biological process: molecular function: cellular component: molecular function: biological process: molecular function: molecular function: molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H001845_01
Name: Spermidine/spermine N1-acetyltransferase |
Sum Func: Spermidine/spermine N(1)-acetyltransferase (SPD/SPM acetyltransferase) is a rate-limiting enzyme in the catabolic pathway of polyamine metabolism. It catalyzes the N(1)-acetylation of spermidine and spermine and, by the successive activity of polyamine oxidase, spermine can be converted to spermidine and spermidine to putrescine.[supplied by OMIM] | SP Function: enzyme which catalyzes the acetylation of polyamines. substrate specificity: norspermidine = spermidine >> spermine > n(1)acetylspermine > putrescine. this highly regulated enzyme allows a fine attenuation of the intracellular concentration of polyamines. also involved in the regulation of polyamine transport out of cells. | Gene Ontology:
molecular function: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H010168_01
Name: SEC24 related gene family, member D (S. cerevisiae) |
Sum Func: The protein encoded by this gene is a member of the SEC24 subfamily of the SEC23/SEC24 family, which is involved in vesicle trafficking. The encoded protein has similarity to yeast Sec24p component of COPII. COPII is the coat protein complex responsible for vesicle budding from the ER. The role of this gene product is implicated in the shaping of the vesicle, and also in cargo selection and concentration. | 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 : H005263_01
Name: Kruppel-like factor 4 (gut) |
Sum Func: | SP Function: may act as a transcriptional activator. binds the caccc core sequence. may be involved in the differentiation of epithelial cells and may also function in the development of the skeleton and kidney. | Gene Ontology:
biological process: biological process: biological process: biological process: molecular function: cellular component: molecular function: molecular function: molecular function: molecular function: molecular function: molecular function: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H001207_01
Name: Adhesion regulating molecule 1 |
Sum Func: The protein encoded by this gene is an integral plasma membrane protein which promotes cell adhesion. The encoded protein is thought to undergo O-linked glycosylation. Expression of this gene has been shown to be induced by gamma interferon in some cancer cells. Two transcript variants encoding the same protein have been found for this gene. | SP Function: promotes cell adhesion (by similarity). | Gene Ontology:
biological process: cellular component: cellular component: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003576_01
Name: Protein tyrosine phosphatase, non-receptor type 21 |
Sum Func: The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP contains an N-terminal domain, similar to cytoskeletal- associated proteins including band 4.1, ezrin, merlin, and radixin. This PTP was shown to specially interact with BMX/ETK, a member of Tec tyrosine kinase family characterized by a multimodular structures including PH, SH3, and SH2 domains. The interaction of this PTP with BMX kinase was found to increase the activation of STAT3, but not STAT2 kinase. Studies of the similar gene in mice suggested the possible roles of this PTP in liver regeneration and spermatogenesis. | SP Function: | Gene Ontology:
cellular component: molecular function: 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 : H002780_01
Name: Actinin, alpha 1 |
Sum Func: Alpha actinins belong to the spectrin gene superfamily which represents a diverse group of cytoskeletal proteins, including the alpha and beta spectrins and dystrophins. Alpha actinin is an actin-binding protein with multiple roles in different cell types. In nonmuscle cells, the cytoskeletal isoform is found along microfilament bundles and adherens-type junctions, where it is involved in binding actin to the membrane. In contrast, skeletal, cardiac, and smooth muscle isoforms are localized to the Z-disc and analogous dense bodies, where they help anchor the myofibrillar actin filaments. This gene encodes a nonmuscle, cytoskeletal, alpha actinin isoform and maps to the same site as the structurally similar erythroid beta spectrin gene. | SP Function: f-actin cross linking protein which is thought to anchor actin to a variety of intracellular structures. this is a bundling protein. | Gene Ontology:
molecular function: cellular component: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003902_01
Name: 24-dehydrocholesterol reductase |
Sum Func: This gene encodes a flavin adenine dinucleotide (FAD)-dependent oxidoreductase which catalyzes the reduction of the delta-24 double bond of sterol intermediates during cholesterol biosynthesis. The protein contains a leader sequence that directs it to the endoplasmic reticulum membrane. Misense mutations in this gene have been associated with desmosterolosis. Also, reduced expression of the gene occurs in the temporal cortex of Alzheimer’s disease patients and overexpression has been observed in cancer of the adrenal gland. | SP Function: catalyzes the reduction of the delta-24 double bond of sterol intermediates. protects cells from oxidative stress by reducing caspase 3 activity during apoptosis induced by oxidative stress. also protects against amyloid-beta peptide-induced apoptosis. | Gene Ontology:
cellular component: biological process: biological process: cellular component: cellular component: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H001749_01
Name: Diazepam binding inhibitor (GABA receptor modulator, acyl-Coenzyme A binding protein) |
Sum Func: | SP Function: binds medium- and long-chain acyl-coa esters with very high affinity and may function as an intracellular carrier of acyl-coa esters. it is also able to displace diazepam from the benzodiazepine (bzd) recognition site located on the gaba type a receptor. it is therefore possible that this protein also acts as a neuropeptide to modulate the action of the gaba receptor. | Gene Ontology:
molecular function: molecular function: molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003086_01
Name: Lectin, mannose-binding, 1 |
Sum Func: The protein encoded by this gene is a type I integral membrane protein localized in the intermediate region between the endoplasmic reticulum and the Golgi, presumably recycling between the two compartments. The protein is a mannose-specific lectin and is a member of a novel family of plant lectin homologs in the secretory pathway of animal cells. Mutations in the gene are associated with a coagulation defect. Using positional cloning, the gene was identified as the disease gene leading to combined factor V-factor VIII deficiency, a rare, autosomal recessive disorder in which both coagulation factors V and VIII are diminished. | SP Function: mannose-specific lectin. may recognize sugar residues of glycoproteins, glycolipids, or glycosylphosphatidyl inositol anchors and may be involved in the sorting or recycling of proteins, lipids, or both. the lman1-mcfd2 complex forms a specific cargo receptor for the er-to-golgi transport of selected proteins. | Gene Ontology:
biological process: cellular component: biological process: cellular component: cellular component: molecular function: biological process: biological process: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H001028_01
Name: Alpha-2-glycoprotein 1, zinc |
Sum Func: | SP Function: stimulates lipid degradation in adipocytes and causes the extensive fat losses associated with some advanced cancers. may bind polyunsaturated fatty acids. | Gene Ontology:
biological process: cellular component: molecular function: biological process: biological process: cellular component: biological process: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H000736_01
Name: 3-hydroxy-3-methylglutaryl-Coenzyme A synthase 1 (soluble) |
Sum Func: | SP Function: this enzyme condenses acetyl-coa with acetoacetyl-coa to form hmg-coa, which is the substrate for hmg-coa reductase. | Gene Ontology:
biological process: biological process: cellular component: molecular function: biological process: cellular component: molecular function: |
BioCarta Pathways:
1: SREBP control of lipid synthesis |
KEGG Pathways:
1: Synthesis and degradation of ketone bodies |
| Unique id : H004099_01
Name: Phosphatidic acid phosphatase type 2A |
Sum Func: The protein encoded by this gene is a member of the phosphatidic acid phosphatase (PAP) family. PAPs convert phosphatidic acid to diacylglycerol, and function in de novo synthesis of glycerolipids as well as in receptor-activated signal transduction mediated by phospholipase D. This protein is an integral membrane glycoprotein, and has been shown to be a surface enzyme that plays an active role in the hydrolysis and uptake of lipids from extracellular space. The expression of this gene is found to be regulated by androgen in a prostatic adenocarcinoma cell line. At least two alternatively spliced transcript variants encoding distinct isoforms have been described. | SP Function: | Gene Ontology:
biological process: molecular function: cellular component: cellular component: biological process: molecular function: biological process: biological process: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H001575_01
Name: UDP-glucose dehydrogenase |
Sum Func: The enzyme UDP-glucose dehydrogenase (UDPGDH; EC 1.1.1.22) converts UDP-glucose to UDP-glucuronate, a critical component of the glycosaminoglycans, hyaluronan, chondroitin sulfate, and heparan sulfate.[supplied by OMIM] | SP Function: | Gene Ontology:
molecular function: biological process: biological process: biological process: molecular function: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H005886_01
Name: Tumor protein D52 |
Sum Func: | SP Function: | Gene Ontology:
biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H000256_01
Name: IQ motif containing GTPase activating protein 2 |
Sum Func: | SP Function: binds to activated cdc42 and rac1 but does not seem to stimulate their gtpase activity. associates with calmodulin. | Gene Ontology:
molecular function: molecular function: molecular function: cellular component: molecular function: biological process: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H001535_01
Name: Sorbitol dehydrogenase |
Sum Func: | SP Function: | Gene Ontology:
molecular function: molecular function: molecular function: biological process: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H000577_01
Name: Keratin 19 |
Sum Func: The protein encoded by this gene is a member of the keratin family. The keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into cytokeratins and hair keratins. The type I cytokeratins consist of acidic proteins which are arranged in pairs of heterotypic keratin chains. Unlike its related family members, this smallest known acidic cytokeratin is not paired with a basic cytokeratin in epithelial cells. It is specifically expressed in the periderm, the transiently superficial layer that envelopes the developing epidermis. The type I cytokeratins are clustered in a region of chromosome 17q12-q21. | SP Function: | Gene Ontology:
cellular component: cellular component: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H006429_01
Name: Spermine synthase |
Sum Func: The protein encoded by this gene belongs to the spermidine/spermine synthases family. This gene encodes an ubiquitous enzyme of polyamine metabolism. | SP Function: | Gene Ontology:
biological process: biological process: molecular function: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways:
1: Urea cycle and metabolism of amino groups |
| Unique id : H009428_01
Name: Stearoyl-CoA desaturase (delta-9-desaturase) |
Sum Func: | SP Function: terminal component of the liver microsomal stearyl-coa desaturase system, that utilizes o(2) and electrons from reduced cytochrome b5 to catalyze the insertion of a double bond into a spectrum of fatty acyl-coa substrates including palmitoyl-coa and stearoyl-coa. | Gene Ontology:
cellular component: biological process: cellular component: molecular function: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H004696_01
Name: Calcium/calmodulin-dependent protein kinase kinase 2, 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. This protein plays a role in the calcium/calmodulin-dependent (CaM) kinase cascade by phosphorylating the downstream kinases CaMK1 and CaMK4. Seven transcript variants encoding six distinct isoforms have been identified for this gene. Additional splice variants have been described but their full-length nature has not been determined. The identified isoforms exhibit a distinct ability to undergo autophosphorylation and to phosphorylate the downstream kinases. | SP Function: | Gene Ontology:
molecular function: biological process: biological process: biological process: biological process: molecular function: molecular function: molecular function: molecular function: biological process: biological process: molecular function: molecular function: cellular component: cellular component: biological process: biological process: biological process: molecular function: molecular function: molecular function: biological process: biological process: molecular function: |
BioCarta Pathways:
1: Ca++/ Calmodulin-dependent Protein Kinase Activation |
KEGG Pathways: |
| Unique id : H007232_01
Name: Ankylosis, progressive homolog (mouse) |
Sum Func: This gene encodes a multipass transmembrane protein that is expressed in joints and other tissues and controls pyrophosphate levels in cultured cells. Mutation at the mouse ‘progressive ankylosis’ (ank) locus causes a generalized, progressive form of arthritis accompanied by mineral deposition, formation of bony outgrowths, and joint destruction. The human homolog is virtually identical to the mouse protein and ANKH-mediated control of pyrophosphate levels has been suggested as a possible mechanism regulating tissue calcification and susceptibility to arthritis in higher animals. | SP Function: | Gene Ontology:
molecular function: molecular function: cellular component: biological process: cellular component: cellular component: biological process: biological process: molecular function: biological process: biological process: biological process: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H004975_01
Name: RNA binding motif protein 10 |
Sum Func: The protein encoded by this gene contains RNA recognition motif found in a variety of RNA binding proteins, including various hnRNP proteins, proteins implicated in regulation of alternative splicing, and protein components of snRNPs. In vitro studies showed that the rat homolog bound to RNA homopolymers, with a preference for G and U polyribonucleotides. This gene is part of a gene cluster on chromosome Xp11.23, and its 3′ end lies within 20 kb upstream of UBE1. Two transcript variants encoding different isoforms have been identified for this gene. | SP Function: not known. binds to rna homopolymers, with a preference for poly(g) and poly(u) and little for poly(a) (by similarity). | Gene Ontology:
molecular function: molecular function: biological process: cellular component: cellular component: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H000721_01
Name: Isopentenyl-diphosphate delta isomerase |
Sum Func: IDI1 encodes a peroxisomally-localized enzyme that catalyzes the interconversion of isopentenyl diphosphate (IPP) to its highly electrophilic isomer, dimethylallyl diphosphate (DMAPP), which are the substrates for the successive reaction that results in the synthesis of farnesyl diphosphate and, ultimately, cholesterol. It has been shown in peroxisomal deficiency diseases such as Zellweger syndrome and neonatal adrenoleukodystrophy that there is reduction in IPP isomerase activity. | SP Function: catalyzes the 1,3-allylic rearrangement of the homoallylic substrate isopentenyl (ipp) to its highly electrophilic allylic isomer, dimethylallyl diphosphate (dmapp). | Gene Ontology:
biological process: biological process: molecular function: molecular function: biological process: molecular function: cellular component: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002975_01
Name: Leukemia inhibitory factor receptor |
Sum Func: The leukemia inhibitory factor is a polyfunctional cytokine that affects the differentiation, survival, and proliferation of a wide variety of cells in the adult and the embryo. LIF action appears to be mediated through a high-affinity receptor complex composed of a low-affinity LIF binding chain (LIF receptor) and a high-affinity converter subunit, gp130. Both LIFR and gp130 are members of a family of cytokine receptors that includes components of the receptors for the majority of hematopoietic cytokines and for cytokines that affect other systems, including the ciliary neurotrophic factor, growth hormone and prolactin. | SP Function: signal-transducing molecule. may have a common pathway with il6st. the soluble form inhibits the biological activity of lif by blocking its binding to receptors on target cells. | Gene Ontology:
biological process: cellular component: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003522_01
Name: Glutathione reductase |
Sum Func: | SP Function: maintains high levels of reduced glutathione in the cytosol. | Gene Ontology:
molecular function: biological process: biological process: molecular function: molecular function: cellular component: biological process: |
BioCarta Pathways:
1: Free Radical Induced Apoptosis |
KEGG Pathways: |
| Unique id : H000269_01
Name: LIM protein (similar to rat protein kinase C-binding enigma) |
Sum Func: LIM domains are cysteine-rich double zinc fingers composed of 50 to 60 amino acids that are involved in protein-protein interactions. LIM domain-containing proteins are scaffolds for the formation of multiprotein complexes. The proteins are involved in cytoskeleton organization, cell lineage specification, organ development, and oncogenesis. Enigma family proteins (see ENIGMA; MIM 605900) possess a 100-amino acid PDZ domain in the N terminus and 1 to 3 LIM domains in the C terminus.[supplied by OMIM] | SP Function: | Gene Ontology:
molecular function: molecular function: cellular component: biological process: cellular component: molecular function: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H000425_01
Name: C-mer proto-oncogene tyrosine kinase |
Sum Func: | SP Function: | Gene Ontology:
molecular function: biological process: biological process: biological process: cellular component: biological process: molecular function: cellular component: 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 : H002508_01
Name: Tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta polypeptide |
Sum Func: This gene product belongs to the 14-3-3 family of proteins which mediate signal transduction by binding to phosphoserine-containing proteins. This highly conserved protein family is found in both plants and mammals, and this protein is 99% identical to the mouse, rat and sheep orthologs. The encoded protein interacts with IRS1 protein, suggesting a role in regulating insulin sensitivity. Two transcript variants differing in the 5′ UTR, but encoding the same protein, have been identified for this gene. | SP Function: | Gene Ontology:
molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H005908_01
Name: Flotillin 2 |
Sum Func: Caveolae are small domains on the inner cell membrane involved in vesicular trafficking and signal transduction. FLOT2 encodes a caveolae-associated, integral membrane protein. Flotillin 2 is though to function in neuronal signaling. | SP Function: may act as a scaffolding protein within caveolar membranes, functionally participating in formation of caveolae or caveolae-like vesicles. may be involved in epidermal cell adhesion and epidermal structure and function. | Gene Ontology:
biological process: biological process: cellular component: cellular component: cellular component: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H007271_01
Name: Sorbin and SH3 domain containing 1 |
Sum Func: | SP Function: | Gene Ontology:
cellular component: cellular component: biological process: biological process: molecular function: biological process: cellular component: cellular component: cellular component: molecular function: molecular function: cellular component: biological process: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H010532_01
Name: Tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide |
Sum Func: This gene product belongs to the 14-3-3 family of proteins which mediate signal transduction by binding to phosphoserine-containing proteins. This highly conserved protein family is found in both plants and mammals, and this protein is 100% identical to the mouse ortholog. It interacts with CDC25 phosphatases, RAF1 and IRS1 proteins, suggesting its role in diverse biochemical activities related to signal transduction, such as cell division and regulation of insulin sensitivity. It has also been implicated in the pathogenesis of small cell lung cancer. | SP Function: | Gene Ontology:
molecular function: |
BioCarta Pathways:
1: Lissencephaly gene (LIS1) in neuronal migration and development |
KEGG Pathways: |
| Unique id : H013009_01
Name: CAP, adenylate cyclase-associated protein 1 (yeast) |
Sum Func: The protein encoded by this gene is related to the S. cerevisiae CAP protein, which is involved in the cyclic AMP pathway. The human protein is able to interact with other molecules of the same protein, as well as with CAP2 and actin. | SP Function: | Gene Ontology:
biological process: biological process: cellular component: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002745_01
Name: Inositol polyphosphate phosphatase-like 1 |
Sum Func: INPPL1 encodes inositol polyphosphate-5 phosphatase-like 1, a protein that in addition to the phosphatase domain contains an SH2 (src-homology domain 2) motif. | SP Function: | Gene Ontology:
molecular function: biological process: biological process: |
BioCarta Pathways:
1: Skeletal muscle hypertrophy is regulated via AKT/mTOR pathway |
KEGG Pathways: |
| Unique id : H008369_01
Name: Par-6 partitioning defective 6 homolog alpha (C.elegans) |
Sum Func: | SP Function: | Gene Ontology:
molecular function: molecular function: biological process: biological process: biological process: biological process: cellular component: cellular component: cellular component: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H004961_01
Name: Flotillin 1 |
Sum Func: Caveolae are small domains on the inner cell membrane involved in vesicular trafficking and signal transduction. FLOT1 encodes a caveolae-associated, integral membrane protein. The function of flotillin 1 has not been determined. | SP Function: may act as a scaffolding protein within caveolar membranes, functionally participating in formation of caveolae or caveolae-like vesicles. | Gene Ontology:
cellular component: cellular component: cellular component: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H011166_01
Name: Tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, beta polypeptide |
Sum Func: This gene encodes a protein belonging to the 14-3-3 family of proteins, members of which mediate signal transduction by binding to phosphoserine-containing proteins. This highly conserved protein family is found in both plants and mammals. The encoded protein has been shown to interact with RAF1 and CDC25 phosphatases, suggesting that it may play a role in linking mitogenic signaling and the cell cycle machinery. Two transcript variants, which encode the same protein, have been identified for this gene. | SP Function: activates tyrosine and tryptophan hydroxylases in the presence of ca(2+)/calmodulin-dependent protein kinase ii, and strongly activates protein kinase c. is probably a multifunctional regulator of the cell signaling processes mediated by both kinases. | Gene Ontology:
molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H005657_01
Name: Calcium/calmodulin-dependent protein kinase (CaM kinase) II gamma |
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 gamma chain. Six alternatively spliced variants that encode six different isoforms have been characterized to date. Additional alternative splice variants that encode different isoforms have been described, but their full-length nature has not been determined. | 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: molecular function: molecular function: cellular component: biological process: molecular function: biological process: biological process: molecular function: molecular function: biological process: molecular function: |
BioCarta Pathways:
1: Ca++/ Calmodulin-dependent Protein Kinase Activation 2: Bioactive Peptide Induced Signaling Pathway 3: Transcription factor CREB and its extracellular signals 4: Regulation of PGC-1a 5: Stathmin and breast cancer resistance to antimicrotubule agents |
KEGG Pathways: |
| Unique id : H008870_01
Name: Sterile alpha motif and leucine zipper containing kinase AZK |
Sum Func: | SP Function: | Gene Ontology:
molecular function: biological process: biological process: molecular function: molecular function: biological process: biological process: biological process: biological process: biological process: biological process: biological process: biological process: cellular component: biological process: molecular function: molecular function: biological process: biological process: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002633_01
Name: FK506 binding protein 12-rapamycin associated protein 1 |
Sum Func: The protein encoded by this gene belongs to a family of phosphatidylinositol kinase-related kinases. These kinases mediate cellular responses to stresses such as DNA damage and nutrient deprivation. This protein acts as the target for the cell-cycle arrest and immunosuppressive effects of the FKBP12-rapamycin complex. The CDT6 gene is located in an intron of this gene. | SP Function: acts as the target for the cell-cycle arrest and immunosuppressive effects of the fkbp12-rapamycin complex. | Gene Ontology:
biological process: biological process: molecular function: cellular component: biological process: molecular function: |
BioCarta Pathways:
1: B Cell Survival Pathway 2: CTCF: First Multivalent Nuclear Factor 3: Regulation of eIF4e and p70 S6 Kinase 4: Skeletal muscle hypertrophy is regulated via AKT/mTOR pathway 5: mTOR Signaling Pathway 6: Stat3 Signaling Pathway |
KEGG Pathways: |
| Unique id : H005703_01
Name: Eukaryotic translation initiation factor 4 gamma, 3 |
Sum Func: | SP Function: | Gene Ontology:
molecular function: cellular component: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H012604_01
Name: Eukaryotic translation initiation factor 4A, isoform 1 |
Sum Func: | SP Function: | Gene Ontology:
molecular function: molecular function: molecular function: molecular function: molecular function: molecular function: biological process: molecular function: |
BioCarta Pathways:
1: Regulation of eIF4e and p70 S6 Kinase 2: Internal Ribosome entry pathway 3: mTOR Signaling Pathway |
KEGG Pathways: |
| Unique id : H013804_01
Name: Eukaryotic translation initiation factor 4A, isoform 1 |
Sum Func: | SP Function: | Gene Ontology:
molecular function: molecular function: molecular function: molecular function: molecular function: molecular function: biological process: molecular function: |
BioCarta Pathways:
1: Regulation of eIF4e and p70 S6 Kinase 2: Internal Ribosome entry pathway 3: mTOR Signaling Pathway |
KEGG Pathways: |
| Unique id : H007640_01
Name: Eukaryotic translation initiation factor 4A, isoform 2 |
Sum Func: | SP Function: eif4a is both a subunit of a high molecular weight protein complex involved in cap recognition and is required as a single polypeptide chain for mrna binding to ribosome. it is an atp-dependent single stranded dna-binding protein with a sequence- independent unwinding activity (helicase). | Gene Ontology:
molecular function: molecular function: molecular function: molecular function: cellular component: molecular function: molecular function: biological process: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003743_01
Name: Eukaryotic translation initiation factor 4 gamma, 2 |
Sum Func: Translation initiation is mediated by specific recognition of the cap structure by eukaryotic translation initiation factor 4F (eIF4F), which is a cap binding protein complex that consists of three subunits: eIF4A, eIF4E and eIF4G. The protein encoded by this gene shares similarity with the C-terminal region of eIF4G, that contains the binding sites for eIF4A and eIF3; eIF4G in addition, contains a binding site for eIF4E at the N-terminus. Unlike eIF4G which supports cap-dependent and independent translation, this gene product functions as a general repressor of translation by forming translationally inactive complexes. In vitro and in vivo studies indicate that translation of this mRNA initiates exclusively at a non-AUG (GUG) codon. | SP Function: | Gene Ontology:
molecular function: biological process: biological process: cellular component: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H007698_01
Name: Eukaryotic translation initiation factor 4E binding protein 1 |
Sum Func: | SP Function: | Gene Ontology:
molecular function: biological process: biological process: biological process: |
BioCarta Pathways:
1: Regulation of eIF4e and p70 S6 Kinase 2: Skeletal muscle hypertrophy is regulated via AKT/mTOR pathway 3: mTOR Signaling Pathway |
KEGG Pathways: |
| Unique id : H010093_01
Name: Eukaryotic translation initiation factor 3, subunit 10 theta, 150/170kDa |
Sum Func: | SP Function: binds to the 40s ribosome and promotes the binding of methionyl-tRNAi and mrna. | Gene Ontology:
cellular component: biological process: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003183_01
Name: Cyclin-dependent kinase 8 |
Sum Func: The protein encoded by this gene is a member of the cyclin-dependent protein kinase (CDK) family. CDK family members are highly similar to the gene products of Saccharomyces cerevisiae cdc28, and Schizosaccharomyces pombe cdc2, and are known to be important regulators of cell cycle progression. This kinase and its regulatory subunit cyclin C are components of the RNA polymerase II holoenzyme complex, which phosphorylates the carboxy-terminal domain (CTD) of the largest subunit of RNA polymerase II. This kinase has also been shown to regulate transcription by targeting the CDK7/cyclin H subunits of the general transcription initiation factor IIH (TFIIH), thus providing a link between the ‘Mediator-like’ protein complexes and the basal transcription machinery. | SP Function: probably involved in the control of the cell cycle. may play a role in transcriptional regulation. binds to and is activated by cyclin c. phosphorylates the ctd (carboxy-terminal domain) of the large subunit of rna polymerase ii (rnap ii). | Gene Ontology:
molecular function: biological process: biological process: molecular function: biological process: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways:
1: Cell cycle 4: Gap junction |
| Unique id : H002675_01
Name: Patched homolog (Drosophila) |
Sum Func: This gene encodes a member of the patched gene family. The encoded protein is the receptor for sonic hedgehog, a secreted molecule implicated in the formation of embryonic structures and in tumorigenesis. This gene functions as a tumor suppressor. Mutations of this gene have been associated with nevoid basal cell carcinoma syndrome, esophageal squamous cell carcinoma, trichoepitheliomas, transitional cell carcinomas of the bladder, as well as holoprosencephaly. Alternative spliced variants have been described, but their full length sequences have not be determined. | SP Function: acts as a receptor for sonic hedgehog (shh), Indian hedgehog (ihh) and desert hedgehog (dhh). associates with the smoothened protein (smo) to transduce the hedgehog’s proteins signal. seems to have a tumor suppressor function, as inactivation of this protein is probably a necessary, if not sufficient step for tumorigenesis. | Gene Ontology:
biological process: molecular function: cellular component: biological process: biological process: molecular function: biological process: |
BioCarta Pathways:
1: Sonic Hedgehog (SHH) Receptor Ptc1 Regulates cell cycle 2: Sonic Hedgehog (Shh) Pathway |
KEGG Pathways: |
| Unique id : H000557_01
Name: Exportin 1 (CRM1 homolog, yeast) |
Sum Func: The protein encoded by this gene mediates leucine-rich nuclear export signal (NES)-dependent protein transport. Exportin 1 specifically inhibits the nuclear export of Rev and U snRNAs. It is involved in the control of several cellular processes by controlling the localization of cyclin B, MPAK, and MAPKAP kinase 2. This protein also regulates NFAT and AP-1. | SP Function: | Gene Ontology:
cellular component: cellular component: cellular component: molecular function: biological process: |
BioCarta Pathways:
1: Regulation of Spermatogenesis by CREM 2: Sonic Hedgehog (SHH) Receptor Ptc1 Regulates cell cycle |
KEGG Pathways: |
| Unique id : H002165_01
Name: Dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 2 |
Sum Func: DYRK2 belongs to a family of protein kinases whose members are presumed to be involved in cellular growth and/or development. The family is defined by structural similarity of their kinase domains and their capability to autophosphorylate on tyrosine residues. DYRK2 has demonstrated tyrosine autophosphorylation and catalyzed phosphorylation of histones H3 and H2B in vitro. Two isoforms of DYRK2 have been isolated. The predominant isoform, isoform 1, lacks a 5′ terminal insert. | SP Function: in vitro; can phosphorylate exogenous substrates on ser and thr residues. may be involved in the regulation of cellular growth and/or development. | Gene Ontology:
molecular function: cellular component: molecular function: molecular function: biological process: biological process: molecular function: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways:
1: Cell cycle |
| Unique id : H006274_01
Name: Hypothetical protein LOC145899 |
Sum Func: The protein encoded by this gene is a guanine nucleotide exchange factor (GEF) similar to the Saccharomyces cerevisiae CDC25 gene product. Functional analysis has demonstrated that this protein stimulates the dissociation of GDP from RAS protein. The studies of the similar gene in mouse suggested that the Ras-GEF activity of this protein in brain can be activated by Ca2+ influx, muscarinic receptors, and G protein beta-gamma subunit. Mouse studies also indicated that the Ras-GEF signaling pathway mediated by this protein may be important for long-term memory. Two alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported. | SP Function: promotes the exchange of ras-bound gdp by gtp. | Gene Ontology:
molecular function: molecular function: biological process: cellular component: biological process: cellular component: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H000610_01
Name: GLI pathogenesis-related 1 (glioma) |
Sum Func: | SP Function: | Gene Ontology:
cellular component: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H007842_01
Name: Gastrin |
Sum Func: Gastrin is hormone whose main function is to stimulate secretion of HCL by the gastric mucosa which results in gastrin formation inhibition. GAS also acts as a mitogenic factor for gastrointestinal epithelial cells. Gastrin has two biologically active peptide forms, G34 and G17. | SP Function: gastrin stimulates the stomach mucosa to produce and secrete hydrochloric acid and the pancreas to secrete its digestive enzymes. it also stimulates smooth muscle contraction and increases blood circulation and water secretion in the stomach and intestine. | Gene Ontology:
cellular component: molecular function: biological process: biological process: cellular component: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H001590_01
Name: Early endosome antigen 1, 162kD |
Sum Func: | SP Function: | Gene Ontology:
molecular function: molecular function: cellular component: cellular component: biological process: cellular component: molecular function: cellular component: molecular function: molecular function: biological process: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H001586_01
Name: ADP-ribosylation factor 1 |
Sum Func: ADP-ribosylation factor 1 (ARF1) 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) and members of each class share a common gene organization. The ARF1 gene spans approximately 16.5 kb and contains five exons and four introns. The ARF1 protein is localized to the Golgi apparatus and has a central role in intra-Golgi transport. | SP Function: | Gene Ontology:
molecular function: molecular function: cellular component: biological process: cellular component: molecular function: biological process: |
BioCarta Pathways:
1: ADP-Ribosylation Factor 2: Phosphoinositides and their downstream targets. |
KEGG Pathways: |
| Unique id : H007864_01
Name: Solute carrier family 27 (fatty acid transporter), member 4 |
Sum Func: | SP Function: | Gene Ontology:
molecular function: biological process: molecular function: biological process: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H001682_01
Name: Related RAS viral (r-ras) oncogene homolog 2 |
Sum Func: | SP Function: | Gene Ontology:
molecular function: biological process: biological process: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H005943_01
Name: Docking protein 1, 62kDa (downstream of tyrosine kinase 1) |
Sum Func: Docking protein 1 is constitutively tyrosine phosphorylated in hematopoietic progenitors isolated from chronic myelogenous leukemia (CML) patients in the chronic phase. It may be a critical substrate for p210(bcr/abl), a chimeric protein whose presence is associated with CML. Docking protein 1 contains a putative pleckstrin homology domain at the amino terminus and ten PXXP SH3 recognition motifs. Docking protein 2 binds p120 (RasGAP) from CML cells. It has been postulated to play a role in mitogenic signaling. | SP Function: docking proteins interact with receptor tyrosine kinases and mediate particular biological responses. | Gene Ontology:
biological process: molecular function: molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003783_01
Name: Sterol regulatory element binding transcription factor 1 |
Sum Func: This gene encodes a transcription factor that binds to the sterol regulatory element-1 (SRE1), which is a decamer flanking the low density lipoprotein receptor gene and some genes involved in sterol biosynthesis. The protein is synthesized as a precursor that is attached to the nuclear membrane and endoplasmic reticulum. Following cleavage, the mature protein translocates to the nucleus and activates transcription by binding to the SRE1. Sterols inhibit the cleavage of the precursor, and the mature nuclear form is rapidly catabolized, thereby reducing transcription. The protein is a member of the basic helix-loop-helix-leucine zipper (bHLH-Zip) transcription factor family. This gene is located within the Smith-Magenis syndrome region on chromosome 17. Two transcript variants encoding different isoforms have been found for this gene. | SP Function: transcriptional activator that binds to the sterol regulatory element 1 (sre-1) (5′-atcaccccac-3′). has dual sequence specificity, binding to both an e-box motif (5′-atcacgtga-3′) and to sre-1 (5′-atcaccccac-3′). regulates the transcription of genes for sterol biosynthesis and the ldl receptor gene. | Gene Ontology:
cellular component: molecular function: biological process: cellular component: cellular component: biological process: cellular component: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H000420_01
Name: Eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa |
Sum Func: | SP Function: catalyzes the exchange of eukaryotic initiation factor 2-bound gdp for gtp. | Gene Ontology:
molecular function: cellular component: molecular function: biological process: molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H006615_01
Name: Acetyl-Coenzyme A carboxylase beta |
Sum Func: Acetyl-CoA carboxylase (ACC) is a complex multifunctional enzyme system. ACC is a biotin-containing enzyme which catalyzes the carboxylation of acetyl-CoA to malonyl-CoA, the rate-limiting step in fatty acid synthesis. ACC-beta is thought to control fatty acid oxidation by means of the ability of malonyl-CoA to inhibit carnitine-palmitoyl-CoA transferase I, the rate-limiting step in fatty acid uptake and oxidation by mitochondria. ACC-beta may be involved in the regulation of fatty acid oxidation, rather than fatty acid biosynthesis. There is evidence for the presence of two ACC-beta isoforms. | SP Function: acc-beta may be involved in the provision of malonyl-coa or in the regulation of fatty acid oxidation, rather than fatty acid biosynthesis. this protein carries three functions: biotin carboxyl carrier protein, biotin carboxylase, and carboxyltransferase. | Gene Ontology:
molecular function: molecular function: molecular function: molecular function: cellular component: biological process: molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002652_01
Name: Uncoupling protein 2 (mitochondrial, proton carrier) |
Sum Func: Mitochondrial uncoupling proteins (UCP) are members of the larger family of mitochondrial anion carrier proteins (MACP). UCPs separate oxidative phosphorylation from ATP synthesis with energy dissipated as heat, also referred to as the mitochondrial proton leak. UCPs facilitate the transfer of anions from the inner to the outer mitochondrial membrane and the return transfer of protons from the outer to the inner mitochondrial membrane. They also reduce the mitochondrial membrane potential in mammalian cells. Tissue specificity occurs for the different UCPs and the exact methods of how UCPs transfer H+/OH- are not known. UCPs contain the three homologous protein domains of MACPs. This gene is expressed in many tissues, with the greatest expression in skeletal muscle. It is thought to play a role in nonshivering thermogenesis, obesity and diabetes. Chromosomal order is 5′-UCP3-UCP2-3′. | SP Function: ucp are mitochondrial transporter proteins that create proton leaks across the inner mitochondrial membrane, thus uncoupling oxidative phosphorylation from atp synthesis. as a result, energy is dissipated in the form of heat. | Gene Ontology:
molecular function: cellular component: cellular component: cellular component: biological process: cellular component: biological process: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002509_01
Name: D component of complement (adipsin) |
Sum Func: The protein encoded by this gene is a member of the trypsin family of peptidases. The encoded protein is a component of the alternative complement pathway best known for its role in humoral suppression of infectious agents. This protein is also a serine protease that is secreted by adipocytes into the bloodstream. Finally, the encoded protein has a high level of expression in fat, suggesting a role for adipose tissue in immune system biology. | SP Function: factor d cleaves factor b when the latter is complexed with factor c3b, activating the c3bbb complex, which then becomes the c3 convertase of the alternate pathway. its function is homologous to that of c1s in the classical pathway. | Gene Ontology:
molecular function: biological process: molecular function: molecular function: molecular function: molecular function: biological process: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002085_01
Name: Orosomucoid 1 |
Sum Func: This gene encodes a key acute phase plasma protein. Because of its increase due to acute inflammation, this protein is classified as an acute-phase reactant. The specific function of this protein has not yet been determined; however, it may be involved in aspects of immunosuppression. | SP Function: appears to function in modulating the activity of the immune system during the acute-phase reaction. | Gene Ontology:
biological process: cellular component: biological process: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002039_01
Name: Phosphoenolpyruvate carboxykinase 2 (mitochondrial) |
Sum Func: Phosphoenolpyruvate carboxykinase (PCK; EC 4.1.1.32) is a key enzyme in gluconeogenesis. The activity is about equally distributed between cytosol and mitochondria in human liver. In contrast, PCK is essentially a cytosolic enzyme in rat liver. See also PCK1 (MIM 261680), the human cytosolic PCK enzyme.[supplied by OMIM] | SP Function: | Gene Ontology:
molecular function: biological process: molecular function: molecular function: cellular component: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H001045_01
Name: Thyroglobulin |
Sum Func: | SP Function: precursor of the iodinated thyroid hormones thyroxine (t4) and triiodothyronine (t3). | Gene Ontology:
cellular component: molecular function: biological process: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H001649_01
Name: Microtubule-associated protein tau |
Sum Func: This gene encodes the microtubule-associated protein tau (MAPT) whose transcript undergoes complex, regulated alternative splicing, giving rise to several mRNA species. MAPT transcripts are differentially expressed in the nervous system, depending on stage of neuronal maturation and neuron type. MAPT gene mutations result in several neurodegenerative disorders such as Alzheimer’s disease, Pick’s disease, frontotemporal dementia, cortico-basal degeneration and progressive supranuclear palsy. | SP Function: promotes microtubule assembly and stability, and might be involved in the establishment and maintenance of neuronal polarity. the c-terminus binds axonal microtubules while the n- terminus binds neural plasma membrane components, suggesting that tau functions as a linker protein between both. axonal polarity is predetermined by tau localization (in the neuronal cell) in the domain of the cell body defined by the centrosome. the short isoforms allow plasticity of the cytoskeleton whereas the longer isoforms may preferentially play a role in its stabilization. | Gene Ontology:
biological process: cellular component: cellular component: cellular component: cellular component: biological process: biological process: cellular component: molecular function: |
BioCarta Pathways:
1: Bioactive Peptide Induced Signaling Pathway 2: Deregulation of CDK5 in Alzheimer’s Disease |
KEGG Pathways: |
| Unique id : H000614_01
Name: Guanine nucleotide binding protein (G protein), alpha 11 (Gq class) |
Sum Func: | SP Function: guanine nucleotide-binding proteins (g proteins) are involved as modulators or transducers in various transmembrane signaling systems. acts as an activator of phospholipase c. | Gene Ontology:
biological process: molecular function: molecular function: cellular component: cellular component: biological process: molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002329_01
Name: Cyclin-dependent kinase 5 |
Sum Func: | SP Function: probably involved in the control of the cell cycle. interacts with d1 and d3-type g1 cyclins. can phosphorylate histone h1, tau, map2 and nf-h and nf-m. also interacts with p35 which activates the kinase. | Gene Ontology:
molecular function: biological process: molecular function: biological process: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H011599_01
Name: Guanine nucleotide binding protein (G protein), alpha 11 (Gq class) |
Sum Func: | SP Function: guanine nucleotide-binding proteins (g proteins) are involved as modulators or transducers in various transmembrane signaling systems. acts as an activator of phospholipase c. | Gene Ontology:
biological process: molecular function: molecular function: cellular component: cellular component: biological process: molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H000460_01
Name: Guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 1 |
Sum Func: | SP Function: | Gene Ontology:
molecular function: molecular function: biological process: |
BioCarta Pathways:
1: Thrombin signaling and protease-activated receptors 2: Bioactive Peptide Induced Signaling Pathway 3: CXCR4 Signaling Pathway 4: Phospholipids as signaling intermediaries 5: Signaling Pathway from G-Protein Families 6: Inactivation of Gsk3 by AKT causes accumulation of b-catenin in Alveolar Macrophages 7: How Progesterone Initiates the Oocyte Maturation 8: Aspirin Blocks Signaling Pathway Involved in Platelet Activation |
KEGG Pathways: |
| Unique id : H001360_01
Name: Rho-associated, coiled-coil containing protein kinase 2 |
Sum Func: The protein encoded by this gene is a serine/threonine kinase that regulates cytokinesis, smooth muscle contraction, the formation of actin stress fibers and focal adhesions, and the activation of the c-fos serum response element. This protein, which is an isozyme of ROCK1 is a target for the small GTPase Rho. | SP Function: | Gene Ontology:
molecular function: cellular component: biological process: molecular function: cellular component: biological process: biological process: biological process: molecular function: molecular function: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002188_01
Name: Lipoprotein, Lp(a) |
Sum Func: | SP Function: apo(a) is the main constituent of lipoprotein(a) (lp(a)). it has serine proteinase activity and is able of autoproteolysis. inhibits tissue-type plasminogen activator 1. lp(a) may be a ligand for megalin/gp 330. | Gene Ontology:
molecular function: biological process: molecular function: cellular component: molecular function: biological process: biological process: molecular function: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003747_01
Name: Serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4 |
Sum Func: | SP Function: inhibits human amidolytic and kininogenase activities of human tissue kallikrein. inhibition is achieved by formation of an equimolar, heat- and sds-stable complex between the inhibitor and the enzyme, and generation of a small c-terminal fragment of the inhibitor due to cleavage at the reactive site by tissue kallikrein. | Gene Ontology:
biological process: molecular function: molecular function: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H007827_01
Name: Rho guanine nucleotide exchange factor (GEF) 11 |
Sum Func: Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli that work through G protein coupled receptors. The encoded protein may form a complex with G proteins and stimulate Rho-dependent signals. A similar protein in rat interacts with glutamate transporter EAAT4 and modulates its glutamate transport activity. Expression of the rat protein induces the reorganization of the actin cytoskeleton and its overexpression induces the formation of membrane ruffling and filopodia. Two alternative transcripts encoding different isoforms have been described. | SP Function: | Gene Ontology:
biological process: molecular function: molecular function: molecular function: biological process: biological process: biological process: biological process: biological process: cellular component: biological process: molecular function: biological process: molecular function: biological process: |
BioCarta Pathways:
1: Rho cell motility signaling pathway |
KEGG Pathways: |
| Unique id : H005813_01
Name: Phospholipase D2 |
Sum Func: Phosphatidylcholine (PC)-specific phospholipases D (PLDs) catalyze the hydrolysis of PC to produce phosphatidic acid and choline. Activation of PC-specific PLDs occurs as a consequence of agonist stimulation of both tyrosine kinase and G protein-coupled receptors. PC-specific PLDs have been proposed to function in regulated secretion, cytoskeletal reorganization, transcriptional regulation, and cell cycle control.[supplied by OMIM] | SP Function: may have a role in signal-induced cytoskeletal regulation and/or endocytosis (by similarity). | Gene Ontology:
biological process: molecular function: biological process: biological process: molecular function: cellular component: biological process: |
BioCarta Pathways:
1: Metabolism of Anandamide, an Endogenous Cannabinoid |
KEGG Pathways: |
| Unique id : H001914_01
Name: Phospholipase D1, phosphatidylcholine-specific |
Sum Func: | SP Function: implicated as a critical step in numerous cellular pathways, including signal transduction, membrane trafficking, and the regulation of mitosis. may be involved in the regulation of perinuclear intravesicular membrane traffic (by similarity). | Gene Ontology:
cellular component: biological process: biological process: cellular component: molecular function: biological process: cellular component: biological process: molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002198_01
Name: Discs, large homolog 4 (Drosophila) |
Sum Func: This gene encodes a member of the membrane-associated guanylate kinase (MAGUK) family. It heteromultimerizes with DLG2. With DLG2 it is recruited into the same NMDA receptor and potassium channel clusters. These two MAGUK proteins may interact at postsynaptic sites to form a multimeric scaffold for the clustering of receptors, ion channels, and associated signaling proteins. | SP Function: interacts with the cytoplasmic tail of nmda receptor subunits. may be involved in synaptogenesis. | Gene Ontology:
molecular function: biological process: biological process: molecular function: molecular function: biological process: biological process: biological process: |
BioCarta Pathways:
1: Synaptic Proteins at the Synaptic Junction 2: Nitric Oxide Signaling Pathway |
KEGG Pathways: |
| Unique id : H011529_01
Name: Phospholipase D3 |
Sum Func: | SP Function: | Gene Ontology:
molecular function: biological process: cellular component: molecular function: cellular component: |
BioCarta Pathways:
1: Metabolism of Anandamide, an Endogenous Cannabinoid |
KEGG Pathways: |
| Unique id : H001655_01
Name: Grancalcin, EF-hand calcium binding protein |
Sum Func: This gene product, grancalcin, is a calcium-binding protein abundant in neutrophils and macrophages. It belongs to the penta-EF-hand subfamily of proteins which includes sorcin, calpain, and ALG-2. Grancalcin localization is dependent upon calcium and magnesium. In the absence of divalent cation, grancalcin localizes to the cytosolic fraction; with magnesium alone, it partitions with the granule fraction; and in the presence of magnesium and calcium, it associates with both the granule and membrane fractions, suggesting a role for grancalcin in granule-membrane fusion and degranulation. | SP Function: may play a role in granule-membrane fusion and degranulation. | Gene Ontology:
molecular function: cellular component: biological process: cellular component: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002704_01
Name: Integrin, alpha 9 |
Sum Func: This gene encodes an alpha integrin. Integrins are heterodimeric integral membrane glycoproteins composed of an alpha chain and a beta chain that mediate cell-cell and cell-matrix adhesion. The protein encoded by this gene, when bound to the beta 1 chain, forms an integrin that is a receptor for VCAM1, cytotactin and osteopontin. Expression of this gene has been found to be upregulated in small cell lung cancers. | SP Function: 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. | Gene Ontology:
biological process: cellular component: cellular component: biological process: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H013335_01
Name: Pallidin homolog (mouse) |
Sum Func: The protein encoded by this gene may play a role in intracellular vesicle trafficking. It interacts with Syntaxin 13 which mediates intracellular membrane fusion. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. | SP Function: | Gene Ontology:
cellular component: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H000446_01
Name: Proteasome (prosome, macropain) activator subunit 1 (PA28 alpha) |
Sum Func: The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. The immunoproteasome contains an alternate regulator, referred to as the 11S regulator or PA28, that replaces the 19S regulator. Three subunits (alpha, beta and gamma) of the 11S regulator have been identified. This gene encodes the alpha subunit of the 11S regulator, one of the two 11S subunits that is induced by gamma-interferon. Three alpha and three beta subunits combine to form a heterohexameric ring. Two transcripts encoding different isoforms have been identified. | SP Function: implicated in immunoproteasome assembly and required for efficient antigen processing. the pa28 activator complex enhances the generation of class i binding peptides by altering the cleavage pattern of the proteasome. | Gene Ontology:
biological process: molecular function: molecular function: cellular component: cellular component: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H001620_01
Name: Diacylglycerol kinase, alpha 80kDa |
Sum Func: The protein encoded by this gene belongs to the eukaryotic diacylglycerol kinase family. It acts as a modulator that competes with protein kinase C for the second messenger diacylglycerol in intracellular signaling pathways. It also plays an important role in the resynthesis of phosphatidylinositols and phosphorylating diacylglycerol to phosphatidic acid. Alternative splicing occurs at this locus and four transcript variants encoding the same protein have been identified. | SP Function: upon cell stimulation converts the second messenger diacylglycerol into phosphatidate, initiating the resynthesis of phosphatidylinositols and attenuating protein kinase c activity. | Gene Ontology:
molecular function: cellular component: molecular function: molecular function: molecular function: molecular function: biological process: biological process: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H016038_01
Name: Pallidin homolog (mouse) |
Sum Func: The protein encoded by this gene may play a role in intracellular vesicle trafficking. It interacts with Syntaxin 13 which mediates intracellular membrane fusion. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. | SP Function: | Gene Ontology:
cellular component: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H010993_01
Name: Electron transfer flavoprotein, alpha polypeptide (glutaric aciduria II) |
Sum Func: ETFA participates in catalyzing the initial step of the mitochondrial fatty acid beta-oxidation. It shuttles electrons between primary flavoprotein dehydrogenases and the membrane-bound electron transfer flavoprotein ubiquinone oxidoreductase. Defects in electron transfer flavoprotein have been implicated in type II glutaric aciduria in which multiple acyl-CoA dehydrogenase deficiencies result in large excretion of glutaric, lactic, ethylmalonic, butyric, isobutyric, 2-methyl-butyric, and isovaleric acids. | SP Function: the electron transfer flavoprotein serves as a specific electron acceptor for several dehydrogenases, including five acyl- coa dehydrogenases, glutaryl-coa and sarcosine dehydrogenase. it transfers the electrons to the main mitochondrial respiratory chain via etf-ubiquinone oxidoreductase (etf dehydrogenase). | Gene Ontology:
molecular function: biological process: cellular component: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002227_01
Name: Integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41B) |
Sum Func: ITGA2B encodes integrin alpha chain 2b. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. Alpha chain 2b undergoes post-translational cleavage to yield disulfide-linked light and heavy chains that join with beta 3 to form a fibronectin receptor expressed in platelets that plays a crucial role in coagulation. Mutations that interfere with this role result in thrombasthenia. In addition to adhesion, integrins are known to participate in cell-surface mediated signaling. | SP Function: integrin alpha-iib/beta-3 is a receptor for fibronectin, fibrinogen, plasminogen, prothrombin, thrombospondin and vitronectin. it recognizes the sequence r-g-d in a wide array of ligands. it recognizes the sequence h-h-l-g-g-g-a-k-q-a-g-d-v in fibrinogen gamma chain. following activation integrin alpha- iib/beta-3 brings about platelet/platelet interaction through binding of soluble fibrinogen. this step leads to rapid platelet aggregation which physically plugs ruptured endothelial cell surface. | Gene Ontology:
biological process: biological process: cellular component: cellular component: biological process: biological process: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002552_01
Name: Integrin beta 3 binding protein (beta3-endonexin) |
Sum Func: | SP Function: | Gene Ontology:
biological process: biological process: cellular component: cellular component: cellular component: molecular function: biological process: molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002398_01
Name: CD22 antigen |
Sum Func: | SP Function: mediates b-cell b-cell interactions. may be involved in the localization of b-cells in lymphoid tissues. binds sialylated glycoproteins; one of which is cd45. preferentially binds to alpha2,6-linked sialic acid. the sialic acid recognition site can be masked by cis interactions with sialic acids on the same cell surface. upon ligand induced tyrosine phosphorylation in the immune response seems to be involved in regulation of b cell antigen receptor signaling. plays a role in positive regulation through interaction with src family tyrosine kinases and may also act as an inhibitory receptor by recruiting cytoplasmic phosphatases via their sh2 domains that block signal transduction through dephosphorylation of signaling molecules. | Gene Ontology:
biological process: biological process: cellular component: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H000396_01
Name: Fasciculation and elongation protein zeta 1 (zygin I) |
Sum Func: This gene is an ortholog of the C. elegans unc-76 gene, which is necessary for normal axonal bundling and elongation within axon bundles. Expression of this gene in C. elegans unc-76 mutants can restore to the mutants partial locomotion and axonal fasciculation, suggesting that it also functions in axonal outgrowth. The N-terminal half of the gene product is highly acidic. Alternatively spliced transcript variants encoding different isoforms of this protein have been described. | SP Function: may be involved in axonal outgrowth as component of the network of molecules that regulate cellular morphology and axon guidance machinery. able to restore partial locomotion and axonal fasciculation to c.elegans unc-76 mutants in germ-line transformation experiments. | Gene Ontology:
biological process: biological process: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H006226_01
Name: Protein tyrosine phosphatase, non-receptor type substrate 1 |
Sum Func: The protein encoded by this gene is a member of the signal-regulatory-protein (SIRP) family, and also belongs to the immunoglobulin superfamily. SIRP family members are receptor-type transmembrane glycoproteins known to be involved in the negative regulation of receptor tyrosine kinase-coupled signaling processes. This protein can be phosphorylated by tyrosine kinases. The phospho-tyrosine residues of this PTP have been shown to recruit SH2 domain containing tyrosine phosphatases (PTP), and serve as substrates of PTPs. This protein was found to participate in signal transduction mediated by various growth factor receptors. CD47 has been demonstrated to be a ligand for this receptor protein. This gene and its product share very high similarity with several other members of the SIRP family. These related genes are located in close proximity to each other on chromosome 20p13. | SP Function: immunoglobulin-like cell surface receptor for cd47. acts as docking protein and induces translocation of ptpn6, ptpn11 and other binding partners from the cytosol to the plasma membrane. supports adhesion of cerebellar neurons, neurite outgrowth and glial cell attachment. may play a key role in intracellular signaling during synaptogenesis and in synaptic function (by similarity). involved in the negative regulation of receptor tyrosine kinase-coupled cellular responses induced by cell adhesion, growth factors or insulin. mediates negative regulation of phagocytosis, mast cell activation and dendritic cell activation. cd47 binding prevents maturation of immature dendritic cells and inhibits cytokine production by mature dendritic cells. | Gene Ontology:
biological process: cellular component: cellular component: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H004690_01
Name: G protein-coupled receptor 56 |
Sum Func: | SP Function: | Gene Ontology:
molecular function: molecular function: cellular component: biological process: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H001984_01
Name: Hyaluronan binding protein 2 |
Sum Func: The protein encoded by this gene is an extracellular serine protease which binds hyaluronic acid. It is involved in cell adhesion. The protein is synthesized as a single chain, but then undergoes an autoproteolytic event to form the functional heterodimer. Further autoproteolysis leads to smaller, inactive peptides. Two transcript variants utilizing alternative polyA sites exist for this gene. | SP Function: | Gene Ontology:
biological process: molecular function: cellular component: molecular function: molecular function: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002955_01
Name: Discoidin domain receptor family, member 1 |
Sum Func: Receptor tyrosine kinases (RTKs) play a key role in the communication of cells with their microenvironment. These molecules are involved in the regulation of cell growth, differentiation and metabolism. The protein encoded by this gene is a RTK that is widely expressed in normal and transformed epithelial cells and is activated by various types of collagen. This protein belongs to a subfamily of tyrosine kinase receptors with a homology region to the Dictyostelium discoideum protein discoidin I in their extracellular domain. Its autophosphorylation is achieved by all collagens so far tested (type I to type VI). In situ studies and Northern-blot analysis showed that expression of this encoded protein is restricted to epithelial cells, particularly in the kidney, lung, gastrointestinal tract, and brain. In addition, this protein is significantly over-expressed in several human tumors from breast, ovarian, esophageal, and pediatric brain. This gene is located on chromosome 6p21.3 in proximity to several HLA class I genes. Three isoforms of this gene are generated by alternative splicing. [PROW] | SP Function: may be involved in cell-cell interactions and recognition. | Gene Ontology:
molecular function: biological process: biological process: cellular component: cellular component: biological process: molecular function: molecular function: molecular function: molecular function: molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002921_01
Name: CD33 antigen (gp67) |
Sum Func: | SP Function: putative adhesion molecule of myelomonocytic-derived cells that mediates sialic-acid dependent binding to cells. preferentially binds to alpha2,6-linked sialic acid. the sialic acid recognition site may be masked by cis interactions with sialic acids on the same cell surface. in the immune response, may act as an inhibitory receptor upon ligand induced tyrosine phosphorylation by recruiting cytoplasmic phosphatase(s) via their sh2 domain(s) that block signal transduction through dephosphorylation of signaling molecules. induces apoptosis in acute myeloid leukemia (in vitro). | Gene Ontology:
biological process: biological process: cellular component: biological process: molecular function: molecular function: biological process: molecular function: |
BioCarta Pathways:
1: Dendritic cells in regulating TH1 and TH2 Development |
KEGG Pathways: |
| Unique id : H003049_01
Name: Integrin, alpha X (antigen CD11C (p150), alpha polypeptide) |
Sum Func: This gene encodes the integrin alpha X chain protein. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. This protein combines with the beta 2 chain (ITGB2) to form a leukocyte-specific integrin referred to as inactivated-C3b (iC3b) receptor 4 (CR4). The alpha X beta 2 complex seems to overlap the properties of the alpha M beta 2 integrin in the adherence of neutrophils and monocytes to stimulated endothelium cells, and in the phagocytosis of complement coated particles. | SP Function: integrin alpha-x/beta-2 is a receptor for fibrinogen. it recognizes the sequence g-p-r in fibrinogen. it mediates cell-cell interaction during inflammatory responses. it is especially important in monocyte adhesion and chemotaxis. | Gene Ontology:
biological process: cellular component: cellular component: biological process: molecular function: biological process: molecular function: molecular function: |
BioCarta Pathways:
1: Dendritic cells in regulating TH1 and TH2 Development |
KEGG Pathways: |
| Unique id : H002134_01
Name: Sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D |
Sum Func: | SP Function: may play a functional role in the immune system, as well as in the nervous system. induces b cells to aggregate and improves their viability in vitro. | Gene Ontology:
biological process: biological process: biological process: biological process: cellular component: biological process: molecular function: biological process: molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002661_01
Name: Egf-like module containing, mucin-like, hormone receptor-like 1 |
Sum Func: This gene encodes a protein that has a domain resembling seven transmembrane G protein-coupled hormone receptors (7TM receptors) at its C-terminus. The N-terminus of the encoded protein has six EGF-like modules, separated from the transmembrane segments by a serine/threonine-rich domain, a feature reminiscent of mucin-like, single-span, integral membrane glycoproteins with adhesive properties. | SP Function: could be involved in cell-cell interactions. | Gene Ontology:
molecular function: molecular function: biological process: cellular component: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H000986_01
Name: Glycoprotein IX (platelet) |
Sum Func: Platelet glycoprotein IX (GP9) is a small membrane glycoprotein found on the surface of human platelets. It forms a 1-to-1 noncovalent complex with glycoprotein Ib (GP Ib), a platelet surface membrane glycoprotein complex that functions as a receptor for von Willebrand factor (VWF; MIM 193400). The main portion of the receptor is a heterodimer composed of 2 polypeptide chains, an alpha chain (GP1BA; MIM 606672) and a beta chain (GP1BB; MIM 138720), that are linked by disulfide bonds. The complete receptor complex includes noncovalent association of the alpha and beta subunits with GP9 and platelet glycoprotein V (GP5; MIM 173511).[supplied by OMIM] | SP Function: the gpib-v-ix complex functions as the von willebrand factor receptor and mediates von willebrand factor-dependent platelet adhesion to blood vessels. the adhesion of platelets to injured vascular surfaces in the arterial circulation is a critical initiating event in hemostasis. gp-ix may provide for membrane insertion and orientation of gp-ib. | Gene Ontology:
biological process: biological process: cellular component: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003546_01
Name: Integrin, alpha 5 (fibronectin receptor, alpha polypeptide) |
Sum Func: The product of this gene belongs to the integrin alpha chain family. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. This gene encodes the integrin alpha 5 chain. Alpha chain 5 undergoes post-translational cleavage in the extracellular domain to yield disulfide-linked light and heavy chains that join with beta 1 to form a fibronectin receptor. In addition to adhesion, integrins are known to participate in cell-surface mediated signaling. | SP Function: integrin alpha-5/beta-1 is a receptor for fibronectin and fibrinogen. it recognizes the sequence r-g-d in its ligands. | Gene Ontology:
biological process: cellular component: cellular component: biological process: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H013467_01
Name: Claudin 10 |
Sum Func: This gene encodes a member of the claudin family. Claudins are integral membrane proteins and components of tight junction strands. Tight junction strands serve as a physical barrier to prevent solutes and water from passing freely through the paracellular space between epithelial or endothelial cell sheets. Two alternatively spliced transcript variants that encode different isoforms have been identified for this gene. | SP Function: component of tight junction (tj) strands. | Gene Ontology:
biological process: cellular component: cellular component: molecular function: cellular component: cellular component: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H001223_01
Name: Sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A |
Sum Func: | SP Function: may act as positive axonal guidance cues. | Gene Ontology:
biological process: biological process: biological process: cellular component: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003051_01
Name: Neural cell adhesion molecule 1 |
Sum Func: | SP Function: this protein is a cell adhesion molecule involved in neuron-neuron adhesion, neurite fasciculation, outgrowth of neurites, etc. | Gene Ontology:
biological process: biological process: cellular component: cellular component: molecular function: biological process: |
BioCarta Pathways:
1: Synaptic Proteins at the Synaptic Junction |
KEGG Pathways: |
| Unique id : H005433_01
Name: Claudin 1 |
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. These junctions are comprised of sets of continuous networking strands in the outwardly facing cytoplasmic leaflet, with complementary grooves in the inwardly facing extracytoplasmic leaflet. The protein encoded by this gene, a member of the claudin family, is an integral membrane protein and a component of tight junction strands. | SP Function: component of tight junction (tj) strands. | Gene Ontology:
biological process: cellular component: molecular function: cellular component: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H012084_01
Name: Contactin 6 |
Sum Func: The protein encoded by this gene is a member of the immunoglobulin superfamily. It is a glycosylphosphatidylinositol (GPI)-anchored neuronal membrane protein that functions as a cell adhesion molecule. It may play a role in the formation of axon connections in the developing nervous system. | SP Function: | Gene Ontology:
biological process: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H008629_01
Name: Spastic paraplegia 7, paraplegin (pure and complicated autosomal recessive) |
Sum Func: This gene encodes a nuclear-encoded mitochondrial metalloprotease protein that is a member of the AAA (ATPases associated with a variety of cellular activities) protein family. Members of this protein family share an ATPase domain and have roles in diverse cellular processes including membrane trafficking, intracellular motility, organelle biogenesis, protein folding, and proteolysis. Two transcript variants encoding distinct isoforms have been identified for this gene. Mutations associated with this gene cause autosomal recessive spastic paraplegia 7. | SP Function: | Gene Ontology:
molecular function: biological process: cellular component: cellular component: molecular function: cellular component: biological process: molecular function: molecular function: biological process: biological process: biological process: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003524_01
Name: Vitronectin (serum spreading factor, somatomedin B, complement S-protein) |
Sum Func: The protein encoded by this gene is a member of the pexin family. It is found in serum and tissues and promotes cell adhesion and spreading, inhibits the membrane-damaging effect of the terminal cytolytic complement pathway, and binds to several serpin serine protease inhibitors. It is a secreted protein and exists in either a single chain form or a clipped, two chain form held together by a disulfide bond. | SP Function: somatomedin b is a growth hormone-dependent serum factor with protease-inhibiting activity. | Gene Ontology:
biological process: cellular component: molecular function: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H011697_01
Name: Bystin-like |
Sum Func: Bystin is expressed as a 2-kb major transcript and a 3.6-kb minor transcript in SNG-M cells and in human trophoblastic teratocarcinoma HT-H cells. Protein binding assays determined that bystin binds directly to trophinin and tastin, and that binding is enhanced when cytokeratins 8 and 18 are present. Immunocytochemistry of HT-H cells showed that bystin colocalizes with trophinin, tastin, and the cytokeratins, suggesting that these molecules form a complex in trophectoderm cells at the time of implantation. Using immunohistochemistry it was determined that trophinin and bystin are found in the placenta from the sixth week of pregnancy. Both proteins were localized in the cytoplasm of the syncytiotrophoblast in the chorionic villi and in endometrial decidual cells at the uteroplacental interface. After week 10, the levels of trophinin, tastin, and bystin decreased and then disappeared from placental villi. | SP Function: could be involved with trophinin and tastin in a cell adhesion molecule complex that mediates an initial attachment of the blastocyst to uterine epithelial cells at the time of the embryo implantation. | Gene Ontology:
biological process: cellular component: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H009546_01
Name: Small EDRK-rich factor 2 |
Sum Func: | SP Function: | Gene Ontology: | BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002990_01
Name: Cadherin 8, type 2 |
Sum Func: This gene encodes a type II classical cadherin from the cadherin superfamily, integral membrane proteins that mediate calcium-dependent cell-cell adhesion. Mature cadherin proteins are composed of a large N-terminal extracellular domain, a single membrane-spanning domain, and a small, highly conserved C-terminal cytoplasmic domain. The extracellular domain consists of 5 subdomains, each containing a cadherin motif, and appears to determine the specificity of the protein’s homophilic cell adhesion activity. Type II (atypical) cadherins are defined based on their lack of a HAV cell adhesion recognition sequence specific to type I cadherins. This particular cadherin is expressed in brain and is putatively involved in synaptic adhesion, axon outgrowth and guidance. | 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. | Gene Ontology:
molecular function: biological process: biological process: cellular component: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H000087_01
Name: Transforming growth factor beta 1 induced transcript 1 |
Sum Func: | SP Function: | Gene Ontology:
molecular function: biological process: cellular component: biological process: biological process: molecular function: molecular function: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H015048_01
Name: Protocadherin beta 3 |
Sum Func: This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The beta cluster contains 16 genes and 3 pseudogenes, each encoding 6 extracellular cadherin domains and a cytoplasmic tail that deviates from others in the cadherin superfamily. The extracellular domains interact in a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not sharing common 3′ exons as expected. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins. Their specific functions are unknown but they most likely play a critical role in the establishment and function of specific cell-cell neural connections. | SP Function: potential calcium-dependent cell-adhesion protein. may be involved in the establishment and maintenance of specific neuronal connections in the brain. | Gene Ontology:
molecular function: biological process: biological process: biological process: cellular component: molecular function: biological process: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H008391_01
Name: Plakophilin 4 |
Sum Func: Armadillo-like proteins are characterized by a series of armadillo repeats, first defined in the Drosophila ‘armadillo’ gene product, that are typically 42 to 45 amino acids in length. These proteins can be divided into subfamilies based on their number of repeats, their overall sequence similarity, and the dispersion of the repeats throughout their sequences. Members of the p120(ctn)/plakophilin subfamily of Armadillo-like proteins, including CTNND1, CTNND2, PKP1, PKP2, PKP4, and ARVCF. PKP4 may be a component of desmosomal plaque and other adhesion plaques and is thought to be involved in regulating junctional plaque organization and cadherin function. Multiple transcript variants have been found for this gene, but the full-length nature of only two of them have been described so far. These two variants encode distinct isoforms. | SP Function: may play a role in junctional plaques. | Gene Ontology:
biological process: cellular component: cellular component: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H006236_01
Name: Coagulation factor VIII, procoagulant component (hemophilia A) |
Sum Func: This gene encodes coagulation factor VIII, which participates in the intrinsic pathway of blood coagulation; factor VIII is a cofactor for factor IXa which, in the presence of Ca+2 and phospholipids, converts factor X to the activated form Xa. This gene produces two alternatively spliced transcripts. Transcript variant 1 encodes a large glycoprotein, isoform a, which circulates in plasma and associates with von Willebrand factor in a noncovalent complex. This protein undergoes multiple cleavage events. Transcript variant 2 encodes a putative small protein, isoform b, which consists primarily of the phospholipid binding domain of factor VIIIc. This binding domain is essential for coagulant activity. Defects in this gene results in hemophilia A, a common recessive X-linked coagulation disorder. | SP Function: factor viii, along with calcium and phospholipid, acts as a cofactor for factor ixa when it converts factor x to the activated form, factor xa. | Gene Ontology:
biological process: biological process: biological process: molecular function: cellular component: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H000520_01
Name: Cell adhesion molecule with homology to L1CAM (close homolog of L1) |
Sum Func: The protein encoded by this gene is a member of the L1 gene family of neural cell adhesion molecules. It is a neural recognition molecule that may be involved in signal transduction pathways. The deletion of one copy of this gene may be responsible for mental defects in patients with 3p- syndrome. Several alternatively spliced transcript variants of this gene have been described, but their full length nature is not known. | SP Function: | Gene Ontology:
biological process: cellular component: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003818_01
Name: Ectonucleoside triphosphate diphosphohydrolase 1 |
Sum Func: | SP Function: in the nervous system, could hydrolyze atp and other nucleotides to regulate purinergic neurotransmission. could also be implicated in the prevention of platelet aggregation. hydrolyzes atp and adp equally well. | Gene Ontology:
biological process: molecular function: biological process: biological process: biological process: molecular function: cellular component: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H001101_01
Name: CD164 antigen, sialomucin |
Sum Func: | SP Function: this is a carcinoma-associated protein, probably a mucin. | Gene Ontology:
biological process: biological process: cellular component: biological process: biological process: cellular component: cellular component: cellular component: biological process: biological process: biological process: biological process: cellular component: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002456_01
Name: Cadherin 4, type 1, R-cadherin (retinal) |
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. Based on studies in chicken and mouse, this cadherin is thought to play an important role during brain segmentation and neuronal outgrowth. In addition, a role in kidney and muscle development is indicated. Of particular interest are studies showing stable cis-heterodimers of cadherins 2 and 4 in cotransfected cell lines. Previously thought to interact in an exclusively homophilic manner, this is the first evidence of cadherin heterodimerization. | 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. may play an important role in retinal development. | Gene Ontology:
molecular function: biological process: biological process: cellular component: cellular component: cellular component: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H010955_01
Name: Peanut-like 1 (Drosophila) |
Sum Func: This gene is a member of the septin gene family which encode nucleotide binding proteins, originally described in yeast as cell division cycle regulatory proteins. Septins are highly conserved in yeast, Drosophila and mouse and appear to regulate cytoskeletal organization. Disruption of septin function disturbs cytokinesis and results in large multinucleate or polyploid cells. PNUTL1 maps to 22q11.2, the region frequently deleted in DiGeorge and velocardiofacial syndromes, and a translocation involving MLL gene and this gene has also been reported in patients with acute myeloid leukemia. Two transcripts of this gene, a major one of 2.2 kb and a minor one of 3.5 kb, have been observed. The 2.2 kb form which encodes this 369 amino acid protein, results from the utilization of a non-consensus polyA_signal (AACAAT). In the absence of polyadenylation from this imperfect site, this gene uses the consensus polyA_signal within its 3′ neighbour gene (GP1BB; platelet glycoprotein Ib), resulting in the 3.5 kb read-through transcript. A transcript variant with a different 5′ end arising by alternative splicing, and possibly accompanied by alternative promoter usage, has also been identified, however, its full length nature is not known. | SP Function: | Gene Ontology:
molecular function: molecular function: biological process: biological process: molecular function: |
BioCarta Pathways:
1: Role of Parkin in the Ubiquitin-Proteasomal Pathway |
KEGG Pathways: |
| Unique id : H001382_01
Name: Calcium/calmodulin-dependent serine protein kinase (MAGUK family) |
Sum Func: | SP Function: bind to cell-surface proteins, including amyloid precursor protein, neurexins, and syndecans. may mediate a link between the extracellular matrix and the actin cytoskeleton via its interaction with syndecan and with the actin/spectrin-binding protein 4.1. | Gene Ontology:
molecular function: cellular component: molecular function: biological process: molecular function: cellular component: biological process: molecular function: molecular function: |
BioCarta Pathways:
1: Synaptic Proteins at the Synaptic Junction |
KEGG Pathways: |
| Unique id : H011988_01
Name: Mucosal vascular addressin cell adhesion molecule 1 |
Sum Func: The protein encoded by this gene is an endothelial cell adhesion molecule that interacts preferentially with the leukocyte beta7 integrin LPAM-1 (alpha4beta7), L-selectin, and VLA-4 (alpha4beta1) on myeloid cells to direct leukocytes into mucosal and inflamed tissues. It is a member of the immunoglobulin family and is similar to ICAM1 and VCAM1. At least seven alternatively spliced transcripts encoding different protein isoforms have been found for this gene, but the full-length nature of some variants has not been determined. | SP Function: | Gene Ontology:
biological process: biological process: cellular component: cellular component: molecular function: biological process: |
BioCarta Pathways:
1: Adhesion and Diapedesis of Lymphocytes |
KEGG Pathways: |
| Unique id : H002337_01
Name: Chemokine (C-X-C motif) ligand 12 (stromal cell-derived factor 1) |
Sum Func: For background information on chemokines, see CXCL11 (SCYB11; MIM 604852). Stromal cell-derived factors 1-alpha and 1-beta are small cytokines that belong to the intercrine family, members of which activate leukocytes and are often induced by proinflammatory stimuli such as lipopolysaccharide, TNF (see MIM 191160), or IL1 (see MIM 147760). The intercrines are characterized by the presence of 4 conserved cysteines which form 2 disulfide bonds. They can be classified into 2 subfamilies. In the CC subfamily, which includes beta chemokine, the cysteine residues are adjacent to each other. In the CXC subfamily, which includes alpha chemokine, they are separated by an intervening amino acid. The SDF1 proteins belong to the latter group.[supplied by OMIM] | SP Function: chemoattractant active on t-lymphocytes, monocytes, but not neutrophils. sdf-1-beta(3-72) and sdf-1-alpha(3-67) show a reduced chemotactic activity. binding to cell surface proteoglycans seems to inhibit formation of sdf-1-alpha(3-67) and thus to preserve activity on local sites. | Gene Ontology:
biological process: biological process: biological process: biological process: molecular function: biological process: biological process: cellular component: molecular function: biological process: biological process: biological process: biological process: biological process: |
BioCarta Pathways:
1: Pertussis toxin-insensitive CCR5 Signaling in Macrophage 2: CXCR4 Signaling Pathway |
KEGG Pathways: |
| Unique id : H008328_01
Name: Endothelial differentiation, sphingolipid G-protein-coupled receptor, 1 |
Sum Func: The protein encoded by this gene is structurally similar to G protein-coupled receptors and is highly expressed in endothelial cells. It binds the ligand sphingosine-1-phosphate with high affinity and high specificity, and suggested to be involved in the processes that regulate the differentiation of endothelial cells. Activation of this receptor induces cell-cell adhesion. | SP Function: receptor for the lysosphingolipid sphingosine 1- phosphate (s1p). s1p is a bioactive lysophospholipid that elicits diverse physiological effect on most types of cells and tissues. this inducible epithelial cell g-protein-coupled receptor may be involved in the processes that regulate the differentiation of endothelial cells. seems to be coupled to the g(i) subclass of heteromeric g proteins. | Gene Ontology:
biological process: biological process: cellular component: molecular function: |
BioCarta Pathways:
1: Phospholipids as signaling intermediaries |
KEGG Pathways: |
| Unique id : H005782_01
Name: Retinoschisis (X-linked, juvenile) 1 |
Sum Func: | SP Function: may be active in cell adhesion processes during retinal development. | Gene Ontology:
biological process: biological process: cellular component: molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002557_01
Name: Protein tyrosine phosphatase, receptor type, U |
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 intracellular catalytic domains, and thus represents a receptor-type PTP. The extracellular region contains a meprin-A5 antigen-PTP (MAM) domain, Ig-like and fibronectin type III-like repeats. This PTP was thought to play roles in cell-cell recognition and adhesion. Studies of the similar gene in mice suggested the role of this PTP in early neural development. The expression of this gene was reported to be regulated by phorbol myristate acetate (PMA) or calcium ionophore in Jurkat T lymphoma cells. Three alternatively spliced transcript variants, which encode distinct proteins, have been reported. | 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 (by similarity). | Gene Ontology:
biological process: molecular function: cellular component: cellular component: biological process: molecular function: 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 : H003699_01
Name: Chondroitin sulfate proteoglycan 2 (versican) |
Sum Func: | SP Function: may play a role in intercellular signaling and in connecting cells with the extracellular matrix. may take part in the regulation of cell motility, growth and differentiation. binds hyaluronic acid. | Gene Ontology:
molecular function: biological process: biological process: cellular component: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H006685_01
Name: Macrophage erythroblast attacher |
Sum Func: This gene product is a novel protein that mediates the attachment of erythroblasts to macrophages. This attachment promotes terminal maturation and enucleation of erythroblasts, presumably by suppressing apoptosis. It is an integral membrane protein with the N-terminus on the extracellular side and the C-terminus on the cytoplasmic side of the cell. Two immunologically related isoforms of erythroblast macrophage protein with apparent molecular weights of 33 kD and 36 kD were detected in macrophage membranes; this gene encodes the larger isoform. | SP Function: | Gene Ontology:
biological process: biological process: biological process: cellular component: cellular component: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H011069_01
Name: Nephrosis 1, congenital, Finnish type (nephrin) |
Sum Func: Nephrin is a kidney glomerular filtration barrier protein that is an essential component of the interpodocyte-spanning slit diaphragm. Mutations in the nephrin gene are associated with congenital nephrotic syndrome (NPHS1; MIM 256300).[supplied by OMIM] | SP Function: seems to play a role in the development or function of the kidney glomerular filtration barrier. may anchor the podocyte slit diaphragm to the actin cytoskeleton. | Gene Ontology:
biological process: biological process: cellular component: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H011423_01
Name: C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 6 |
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 play a role in inflammatory and immune response. Multiple transcript variants encoding distinct isoforms have been identified for this gene. 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: biological process: biological process: cellular component: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H001943_01
Name: CD58 antigen, (lymphocyte function-associated antigen 3) |
Sum Func: | SP Function: ligand of the t lymphocyte cd2 glycoprotein. this interaction is important in mediating thymocyte interactions with thymic epithelial cells, antigen-independent and -dependent interactions of t lymphocytes with target cells and antigen- presenting cells and the t lymphocyte rosetting with erythrocytes. in addition, the lfa-3/cd2 interaction may prime response by both the cd2+ and lfa-3+ cells. | Gene Ontology:
biological process: biological process: cellular component: cellular component: molecular function: |
BioCarta Pathways:
1: IL 17 Signaling Pathway |
KEGG Pathways: |
| Unique id : H002328_01
Name: Integrin, alpha M (complement component receptor 3, alpha; also known as CD11b (p170), macrophage antigen alpha polypeptide) |
Sum Func: ITGAM encodes the integrin alpha M chain. Note that this gene was cloned by different groups which used different naming conventions. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. This I-domain containing alpha integrin combines with the beta 2 chain (ITGB2) to form a leukocyte-specific integrin referred to as macrophage receptor 1 (‘Mac-1’), or inactivated-C3b (iC3b) receptor 3 (‘CR3’). The alpha M beta 2 integrin is important in the adherence of neutrophils and monocytes to stimulated endothelium, and also in the phagocytosis of complement coated particles. Some integrin alpha M proteins contain an inserted amino acid (Q, between AA positions 499 and 500) resulting from a 3bp shift in a splice acceptor that inserts the codon CAG; receptors with or without the extra amino acid are functionally indistinguishable | SP Function: integrin alpha-m/beta-2 is implicated in various adhesive interactions of monocytes, macrophages and granulocytes as well as in mediating the uptake of complement-coated particles. it is identical with cr-3, the receptor for the ic3b fragment of the third complement component. it probably recognizes the r-g-d peptide in c3b. integrin alpha-m/beta-2 is also a receptor for fibrinogen, factor x and icam1. it recognizes p1 and p2 peptides of fibrinogen gamma chain. | Gene Ontology:
biological process: cellular component: cellular component: cellular component: biological process: molecular function: molecular function: molecular function: |
BioCarta Pathways:
1: Adhesion and Diapedesis of Granulocytes 2: Monocyte and its Surface Molecules 3: Neutrophil and Its Surface Molecules |
KEGG Pathways: |
| Unique id : H001175_01
Name: Lutheran blood group (Auberger b antigen included) |
Sum Func: | SP Function: probable receptor. may mediate intracellular signaling. | Gene Ontology:
biological process: cellular component: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H004192_01
Name: Neural cell adhesion molecule 1 |
Sum Func: | SP Function: this protein is a cell adhesion molecule involved in neuron-neuron adhesion, neurite fasciculation, outgrowth of neurites, etc. | Gene Ontology:
biological process: biological process: cellular component: cellular component: molecular function: biological process: |
BioCarta Pathways:
1: Synaptic Proteins at the Synaptic Junction |
KEGG Pathways: |
| Unique id : H010984_01
Name: Contactin associated protein 1 |
Sum Func: The gene product was initially identified as a 190-kD protein associated with the contactin-PTPRZ1 complex. The 1,381-amino acid protein, also designated p190 or CASPR for ‘contactin-associated protein,’ includes an extracellular domain with several putative protein-protein interaction domains, a putative transmembrane domain, and a 74-amino acid cytoplasmic domain. Northern blot analysis showed that the gene is transcribed predominantly in brain as a transcript of 6.2 kb, with weak expression in several other tissues tested. The architecture of its extracellular domain is similar to that of neurexins, and this protein may be the signaling subunit of contactin, enabling recruitment and activation of intracellular signaling pathways in neurons. | SP Function: seems to play a role in the formation of functional distinct domains critical for saltatory conduction of nerve impulses in myelinated nerve fibers. seems to demarcate the paranodal region of the axo-glial junction. in association with contactin may have a role in the signaling between axons and myelinating glial cells. | Gene Ontology:
molecular function: biological process: cellular component: molecular function: molecular function: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H010407_01
Name: CD226 antigen |
Sum Func: CD226 is a ~65 kDa glycoprotein expressed on the surface of NK cells, platelets, monocytes and a subset of T cells. It is a member of the Ig-superfamily containing 2 Ig-like domains of the V-set and is encoded by a gene on human chromosome 18q22.3. CD226 mediates cellular adhesion to other cells bearing an unidentified ligand and cross linking CD226 with antibodies causes cellular activation [PROW] | SP Function: | Gene Ontology:
biological process: biological process: cellular component: molecular function: molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H012881_01
Name: Neural precursor cell expressed, developmentally down-regulated 9 |
Sum Func: | SP Function: docking protein which plays a central coordinating role for tyrosine-kinase-based signaling related to cell adhesion. may function in transmitting growth control signals between focal adhesions at the cell periphery and the mitotic spindle in response to adhesion or growth factor signals initiating cell proliferation. may play an important role in integrin beta-1 or b cell antigen receptor (bcr) mediated signaling in b- and t-cells. integrin beta-1 stimulation leads to recruitment of various proteins including crk, nck and shptp2 to the tyrosine phosphorylated form. | Gene Ontology:
biological process: biological process: cellular component: biological process: biological process: biological process: cellular component: molecular function: biological process: biological process: biological process: cellular component: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H013889_01
Name: Psoriasis susceptibility 1 candidate 1 |
Sum Func: | SP Function: | Gene Ontology: | BioCarta Pathways: | KEGG Pathways: |
| Unique id : H000279_01
Name: Leupaxin |
Sum Func: The product encoded by this gene is preferentially expressed in hematopoietic cells and is most homologous to the focal adhesion protein, paxillin. It may function in cell type-specific signaling by associating with PYK2, a member of focal adhesion kinase family. As a substrate for a tyrosine kinase in lymphoid cells, this protein may also function in, and be regulated by tyrosine kinase activity. | SP Function: associates with pyk2 in lymphoid cells. may regulate signaling at sites of adhesion. | Gene Ontology:
biological process: cellular component: biological process: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H000757_01
Name: Calcium and integrin binding 1 (calmyrin) |
Sum Func: The protein encoded by this gene is a member of the calcium-binding protein family. The specific function of this protein has not yet been determined; however this protein is known to interact with DNA-dependent protein kinase and may play a role in kinase-phosphatase regulation of DNA end joining. This protein also interacts with integrin alpha(IIb)beta(3), which may implicate this protein as a regulatory molecule for alpha(IIb)beta(3). | SP Function: may convert the inactive conformation of integrin alpha- iib/beta3 to an active form through the binding to the integrin cytoplasmic domain. | Gene Ontology:
molecular function: biological process: biological process: cellular component: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H005759_01
Name: Vinexin beta (SH3-containing adaptor molecule-1) |
Sum Func: | SP Function: vinexin alpha isoform promotes upregulation of actin stress fiber formation. vinexin beta isoform plays a role in cell spreading and enhances the activation of jnk/sapk in response to egf stimulation by using its third sh3 domain. | Gene Ontology:
cellular component: biological process: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002212_01
Name: Zyxin |
Sum Func: | SP Function: adhesion plaque protein. binds alpha-actinin and the crp protein. may be a component of a signal transduction pathway that mediates adhesion-stimulated changes in gene expression (by similarity). | Gene Ontology:
biological process: biological process: cellular component: molecular function: biological process: molecular function: |
BioCarta Pathways:
1: Integrin Signaling Pathway |
KEGG Pathways: |
| Unique id : H002425_01
Name: CD2 antigen (p50), sheep red blood cell receptor |
Sum Func: | SP Function: cd2 interacts with lymphocyte function-associated antigen (lfa-3) and cd48/bcm1 to mediate adhesion between t cells and other cell types. cd2 is implicated in the triggering of t- cells, the cytoplasmic domain is implicated in the signaling function. | Gene Ontology:
biological process: biological process: biological process: biological process: cellular component: biological process: biological process: biological process: molecular function: molecular function: biological process: |
BioCarta Pathways:
1: Dendritic cells in regulating TH1 and TH2 Development 2: IL 17 Signaling Pathway 3: NO2-dependent IL 12 Pathway in NK cells 4: Stathmin and breast cancer resistance to antimicrotubule agents 5: T Cytotoxic Cell Surface Molecules 6: T Helper Cell Surface Molecules |
KEGG Pathways: |
| Unique id : H007610_01
Name: Myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 |
Sum Func: | SP Function: belongs to an adhesion system, probably together with the e-cadherin-catenin system, which plays a role in the organization of homotypic, interneuronal and heterotypic cell-cell adherens junctions (ajs). nectin- and actin-filament-binding protein that connects nectin to the actin cytoskeleton. | Gene Ontology:
biological process: biological process: biological process: cellular component: molecular function: cellular component: molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H005451_01
Name: Integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61) |
Sum Func: The ITGB3 protein product is the integrin beta chain beta 3. Integrins are integral cell-surface proteins composed of an alpha chain and a beta chain. A given chain may combine with multiple partners resulting in different integrins. Integrin beta 3 is found along with the alpha IIb chain in platelets. Integrins are known to participate in cell adhesion as well as cell-surface mediated signaling. | SP Function: integrin alpha-v/beta-3 is a receptor for cytotactin, fibronectin, laminin, matrix metalloproteinase-2, osteopontin, osteomodulin, prothrombin, thrombospondin, vitronectin and von willebrand factor. integrin alpha-iib/beta-3 is a receptor for fibronectin, fibrinogen, plasminogen, prothrombin, thrombospondin and vitronectin. integrins alpha-iib/beta-3 and alpha-v/beta-3 recognize the sequence r-g-d in a wide array of ligands. integrin alpha-iib/beta-3 recognizes the sequence h-h-l-g-g-g-a-k-q-a-g-d-v in fibrinogen gamma chain. following activation integrin alpha- iib/beta-3 brings about platelet/platelet interaction through binding of soluble fibrinogen. this step leads to rapid platelet aggregation which physically plugs ruptured endothelial surface. | Gene Ontology:
biological process: biological process: cellular component: biological process: molecular function: molecular function: |
BioCarta Pathways:
1: Phospholipids as signaling intermediaries 2: uCalpain and friends in Cell spread |
KEGG Pathways: |
| Unique id : H003407_01
Name: Von Willebrand factor |
Sum Func: The glycoprotein encoded by this gene functions as both an antihemophilic factor carrier and a platelet-vessel wall mediator in the blood coagulation system. It is crucial to the hemostasis process. Mutations in this gene or deficiencies in this protein result in von Willebrand’s disease. An unprocessed pseudogene has been found on chromosome 22. | SP Function: important in the maintenance of hemostasis, it promotes adhesion of platelets to the sites of vascular injury by forming a molecular bridge between sub-endothelial collagen matrix and platelet-surface receptor complex gpib-ix-v. also acts as a chaperone for coagulation factor viii, delivering it to the site of injury, stabilizing its heterodimeric structure and protecting it from premature clearance from plasma. | Gene Ontology:
biological process: biological process: cellular component: molecular function: biological process: molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H009708_01
Name: Contactin associated protein-like 2 |
Sum Func: This gene encodes a member of the neurexin family which functions in the vertebrate nervous system as cell adhesion molecules and receptors. This protein, like other neurexin proteins, contains epidermal growth factor repeats and laminin G domains. In addition, it includes an F5/8 type C domain, discoidin/neuropilin- and fibrinogen-like domains, thrombospondin N-terminal-like domains and a putative PDZ binding site. This protein is localized at the juxtaparanodes of myelinated axons and associated with potassium channels. It may play a role in the local differentiation of the axon into distinct functional subdomains. This gene encompasses almost 1.5% of chromosome 7 and is one of the largest genes in the human genome. It may represent a positional candidate gene for the DFNB13 form of nonsyndromic deafness. | SP Function: | Gene Ontology:
biological process: cellular component: biological process: molecular function: molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H001286_01
Name: Myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 |
Sum Func: | SP Function: belongs to an adhesion system, probably together with the e-cadherin-catenin system, which plays a role in the organization of homotypic, interneuronal and heterotypic cell-cell adherens junctions (ajs). nectin- and actin-filament-binding protein that connects nectin to the actin cytoskeleton. | Gene Ontology:
biological process: biological process: biological process: cellular component: molecular function: cellular component: molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H005864_01
Name: Immunoglobulin superfamily, member 1 |
Sum Func: Members of the immunoglobulin (Ig) superfamily (see MIM 147100), which includes IGSF1, have a variety of functions, but all appear to play a role in cell recognition and the regulation of cell behavior.[supplied by OMIM] | SP Function: | Gene Ontology:
biological process: cellular component: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H004275_01
Name: Elastin microfibril interfacer 1 |
Sum Func: | SP Function: | Gene Ontology:
biological process: cellular component: cellular component: molecular function: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H011503_01
Name: Integrin, beta-like 1 (with EGF-like repeat domains) |
Sum Func: | SP Function: | Gene Ontology:
biological process: cellular component: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H000877_01
Name: Sphingomyelin phosphodiesterase 1, acid lysosomal (acid sphingomyelinase) |
Sum Func: | SP Function: converts sphingomyelin to ceramide. asm also has phospholipase c activities toward 1,2-diacylglycerolphosphocholine and 1,2-diacylglycerolphosphoglycerol. | Gene Ontology:
biological process: molecular function: cellular component: biological process: biological process: biological process: molecular function: |
BioCarta Pathways:
1: Ceramide Signaling Pathway |
KEGG Pathways: |
| Unique id : H002786_01
Name: Caspase 8, apoptosis-related cysteine protease |
Sum Func: This gene encodes a protein that 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 composed of a prodomain, a large protease subunit, and a small protease subunit. Activation of caspases requires proteolytic processing at conserved internal aspartic residues to generate a heterodimeric enzyme consisting of the large and small subunits. This protein is involved in the programmed cell death induced by Fas and various apoptotic stimuli. The N-terminal FADD-like death effector domain of this protein suggests that it may interact with Fas-interacting protein FADD. This protein was detected in the insoluble fraction of the affected brain region from Huntington disease patients but not in those from normal controls, which implicated the role in neurodegenerative diseases. Alternative splicing of this gene results in five transcript variants. | SP Function: most upstream protease of the activation cascade of caspases responsible for the tnfrsf6/fas mediated and tnfrsf1a induced cell death. binding to the adapter molecule fadd recruits it to either receptor. the resulting aggregate called death- inducing signaling complex (disc) performs casp8 proteolytic activation. the active dimeric enzyme is then liberated from the disc and free to activate downstream apoptotic proteases. proteolytic fragments of the n-terminal propeptide (termed cap3, cap5 and cap6) are likely retained in the disc. cleaves and activates casp3, casp4, casp6, casp7, casp9 and casp10. may participate in the gzmb apoptotic pathways. cleaves adprt. hydrolyzes the small-molecule substrate, ac-asp-glu-val-asp-|-amc. likely target for the cowpox virus crma death inhibitory protein. isoforms 5, 6, 7 and 8 lack the catalytic site and may interfere with the pro-apoptotic activity of the complex. | Gene Ontology:
biological process: molecular function: molecular function: cellular component: molecular function: cellular component: biological process: molecular function: biological process: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H006662_01
Name: Fas (TNFRSF6)-associated via death domain |
Sum Func: The protein encoded by this gene is an adaptor molecule that interacts with various cell surface receptors and mediates cell apoptotic signals. Through its C-terminal death domain, this protein can be recruited by TNFRSF6/Fas-receptor, tumor necrosis factor receptor, TNFRSF25, and TNFSF10/TRAIL-receptor, and thus it participates in the death signaling initiated by these receptors. Interaction of this protein with the receptors unmasks the N-terminal effector domain of this protein, which allows it to recruit caspase-8, and thereby activate the cysteine protease cascade. Knockout studies in mice also suggest the importance of this protein in early T cell development. | SP Function: apoptotic adaptor molecule that recruits caspase-8 or caspase-10 to the activated fas (cd95) or tnfr-1 receptors. the resulting aggregate called the death-inducing signaling complex (disc) performs caspase-8 proteolytic activation. active caspase-8 initiates the subsequent cascade of caspases (aspartate-specific cysteine proteases) mediating apoptosis. | Gene Ontology:
biological process: biological process: cellular component: molecular function: biological process: biological process: molecular function: biological process: molecular function: |
BioCarta Pathways:
1: HIV-I Nef: negative effector of Fas and TNF 2: Acetylation and Deacetylation of RelA in The Nucleus 3: Ceramide Signaling Pathway 4: Induction of apoptosis through DR3 and DR4/5 Death Receptors 5: FAS signaling pathway ( CD95 ) 6: NF-kB Signaling Pathway 7: SODD/TNFR1 Signaling Pathway 8: TNFR1 Signaling Pathway |
KEGG Pathways: |
| Unique id : H000028_01
Name: Programmed cell death 8 (apoptosis-inducing factor) |
Sum Func: This gene encodes a flavoprotein essential for nuclear disassembly in apoptotic cells that is found in the mitochondrial intermembrane space in healthy cells. Induction of apoptosis results in the translocation of this protein to the nucleus where it effects chromosome condensation and fragmentation. In addition, this gene product induces mitochondria to release the apoptogenic proteins cytochrome c and caspase-9. Three alternative transcripts encoding different isoforms have been identified for this gene. | SP Function: probable oxidoreductase that acts as a caspase- independent mitochondrial effector of apoptotic cell death. extramitochondrial aif induces nuclear chromatin condensation and large scale dna fragmentation (in vitro). | Gene Ontology:
biological process: biological process: biological process: molecular function: molecular function: biological process: cellular component: cellular component: |
BioCarta Pathways:
1: Opposing roles of AIF in Apoptosis and Cell Survival 2: Ceramide Signaling Pathway 3: Role of Mitochondria in Apoptotic Signaling |
KEGG Pathways: |
| Unique id : H000025_01
Name: Neutral sphingomyelinase (N-SMase) activation associated factor |
Sum Func: Cellular responses to tumor necrosis factor (TNF; MIM 191160) are initiated by the interaction of TNF with 2 distinct cell surface receptors that transmit signals to the cytoplasm and nucleus, leading to profound alterations in transcriptional programs. The initiation of intracellular signaling events through 1 of these receptors, the 55-kD tumor necrosis factor receptor-1 (TNFR1; MIM 191190), appears to depend on protein intermediates that interact with specific cytoplasmic domains of TNFR1 (Adam-Klages et al., 1996 [PubMed 8808629]).[supplied by OMIM] | SP Function: couples the p55 tnf-receptor (tnf-r55 / tnfr1) to neutral sphingomyelinase (n-smase). specifically binds to the n- smase activation domain of tnf-r55. may regulate ceramide production by n-smase. | Gene Ontology:
biological process: cellular component: molecular function: biological process: cellular component: |
BioCarta Pathways:
1: Ceramide Signaling Pathway |
KEGG Pathways: |
| Unique id : H002682_01
Name: Transferrin |
Sum Func: The protein encoded by this gene is a glycoprotein with an approximate molecular weight of 76.5 kDa. It is thought to have been created as a result of an ancient gene duplication event that led to generation of homologous C and N-terminal domains each of which binds 1 ion of ferric iron. The function of this encoded protein is to transport iron from the intestine, reticuloendothelial system, and liver parenchymal cells to all proliferating cells in the body. In addition to its function in iron transport, this protein may also have a physiologic role as granulocyte/pollen-binding protein (GPBP) involved in the removal of certain organic matter/allergins from serum. | SP Function: transferrins are iron binding transport proteins which can bind two atoms of ferric iron in association with the binding of an anion, usually bicarbonate. it is responsible for the transport of iron from sites of absorption and heme degradation to those of storage and utilization. serum transferrin may also have a further role in stimulating cell proliferation. | Gene Ontology:
cellular component: molecular function: biological process: biological process: biological process: transport |
BioCarta Pathways:
1: The role of FYVE-finger proteins in vesicle transport |
KEGG Pathways: |
| Unique id : H000655_01
Name: Hepatocyte growth factor-regulated tyrosine kinase substrate |
Sum Func: | SP Function: | Gene Ontology:
cellular component: biological process: biological process: molecular function: biological process: biological process: molecular function: |
BioCarta Pathways:
1: The role of FYVE-finger proteins in vesicle transport |
KEGG Pathways: |
| Unique id : H015257_01
Name: Transferrin |
Sum Func: The protein encoded by this gene is a glycoprotein with an approximate molecular weight of 76.5 kDa. It is thought to have been created as a result of an ancient gene duplication event that led to generation of homologous C and N-terminal domains each of which binds 1 ion of ferric iron. The function of this encoded protein is to transport iron from the intestine, reticuloendothelial system, and liver parenchymal cells to all proliferating cells in the body. In addition to its function in iron transport, this protein may also have a physiologic role as granulocyte/pollen-binding protein (GPBP) involved in the removal of certain organic matter/allergins from serum. | SP Function: transferrins are iron binding transport proteins which can bind two atoms of ferric iron in association with the binding of an anion, usually bicarbonate. it is responsible for the transport of iron from sites of absorption and heme degradation to those of storage and utilization. serum transferrin may also have a further role in stimulating cell proliferation. | Gene Ontology:
cellular component: molecular function: biological process: biological process: biological process: |
BioCarta Pathways:
1: The role of FYVE-finger proteins in vesicle transport |
KEGG Pathways: |
| Unique id : H002993_01
Name: Transferrin receptor (p90, CD71) |
Sum Func: | SP Function: cellular uptake of iron occurs via receptor-mediated endocytosis of ligand-occupied transferrin receptor into specialized endosomes. endosomal acidification leads to iron release. the apotransferrin-receptor complex is then recycled to the cell surface with a return to neutral ph and the concomitant loss of affinity of apotransferrin for its receptor. transferrin receptor is necessary for development of erythrocytes and the nervous system (by similarity). a second ligand, the hereditary hemochromatosis protein hfe, competes for binding with transferrin for an overlapping c-terminal binding site. | Gene Ontology:
biological process: cellular component: cellular component: cellular component: biological process: biological process: molecular function: biological process: molecular function: molecular function: |
BioCarta Pathways:
1: The role of FYVE-finger proteins in vesicle transport |
KEGG Pathways: |
| Unique id : H001591_01
Name: Phospholipase C, gamma 2 (phosphatidylinositol-specific) |
Sum Func: Enzymes of the phospholipase C family catalyze the hydrolysis of phospholipids to yield diacylglycerols and water-soluble phosphorylated derivatives of the lipid head groups. A number of these enzymes have specificity for phosphoinositides. Of the phosphoinositide-specific phospholipase C enzymes, C-beta is regulated by heterotrimeric G protein-coupled receptors, while the closely related C-gamma-1 (PLCG1; MIM 172420) and C-gamma-2 enzymes are controlled by receptor tyrosine kinases. The C-gamma-1 and C-gamma-2 enzymes are composed of phospholipase domains that flank regions of homology to non catalytic domains of the SRC oncogene product, SH2 and SH3.[supplied by OMIM] | 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. it is a crucial enzyme in transmembrane signaling. | Gene Ontology:
molecular function: biological process: molecular function: biological process: biological process: biological process: molecular function: 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 : H002834_01
Name: Interferon gamma receptor 2 (interferon gamma transducer 1) |
Sum Func: The protein encoded by this gene is a type I integral membrane protein and belongs to the type II cytokine family of receptors. The encoded protein forms part of the interferon gamma receptor and is thought to interact with GAF, JAK1, and/or JAK2 in the interferon gamma signal transduction pathway. | SP Function: part of the receptor for interferon gamma. required for signal transduction. this accessory factor is an integral part of the ifn-gamma signal transduction pathway and is likely to interact with gaf, jak1, and/or jak2. | Gene Ontology:
biological process: molecular function: cellular component: molecular function: molecular function: biological process: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H006206_01
Name: Usher syndrome 1C (autosomal recessive, severe) |
Sum Func: | SP Function: may be involved in protein-protein interaction. | Gene Ontology:
cellular component: biological process: biological process: molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H012648_01
Name: DnaJ (Hsp40) homolog, subfamily A, member 3 |
Sum Func: DNAJA3 belongs to the evolutionarily conserved DNAJ/HSP40 family of proteins. For background information on the DNAJ family, see MIM 608375.[supplied by OMIM] | SP Function: | Gene Ontology:
biological process: cellular component: biological process: biological process: molecular function: |
BioCarta Pathways:
1: Chaperones modulate interferon Signaling Pathway |
KEGG Pathways: |
| Unique id : H006300_01
Name: Ceramide kinase |
Sum Func: | SP Function: | Gene Ontology:
molecular function: molecular function: biological process: molecular function: cellular component: molecular function: molecular function: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H008949_01
Name: Proapoptotic caspase adaptor protein |
Sum Func: | SP Function: | Gene Ontology: | BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003878_01
Name: Caspase 3, apoptosis-related cysteine protease |
Sum Func: This gene encodes a protein which is a member of the cysteine-aspartic acid protease (caspase) family. Sequential activation of caspases plays a central role in the execution-phase of cell apoptosis. Caspases exist as inactive proenzymes which undergo proteolytic processing at conserved aspartic residues to produce 2 subunits, large and small, that dimerize to form the active enzyme. This protein was shown to cleave and activate caspases 6, 7 and 9, and itself could be processed by caspases 8, 9 and 10. It is the predominant caspase involved in the cleavage of amyloid-beta 4A precursor protein, which is associated with neuronal death in Alzheimer’s disease. Alternative splicing of this gene results in two transcript variants which encode the same protein. | SP Function: involved in the activation cascade of caspases responsible for apoptosis execution. at the onset of apoptosis it proteolytically cleaves poly(adp-ribose) polymerase (parp) at a 216-asp-|-gly-217 bond. cleaves and activates sterol regulatory element binding proteins (srebps) between the basic helix-loop- helix leucine zipper domain and the membrane attachment domain. cleaves and activates caspase-6, -7 and -9. involved in the cleavage of huntingtin. | Gene Ontology:
biological process: molecular function: molecular function: molecular function: biological process: biological process: |
BioCarta Pathways:
1: Apoptotic DNA fragmentation and tissue homeostasis 2: HIV-I Nef: negative effector of Fas and TNF 3: B Cell Survival Pathway 4: Caspase Cascade in Apoptosis 5: Apoptotic Signaling in Response to DNA Damage 6: D4-GDI Signaling Pathway 7: Induction of apoptosis through DR3 and DR4/5 Death Receptors 8: FAS signaling pathway ( CD95 ) 9: Stress Induction of HSP Regulation 10: Role of Mitochondria in Apoptotic Signaling 11: TNFR1 Signaling Pathway 12: TSP-1 Induced Apoptosis in Microvascular Endothelial Cell |
KEGG Pathways: |
| Unique id : H012904_01
Name: Mitogen-activated protein kinase 8 interacting protein 3 |
Sum Func: The protein encoded by this gene shares similarity with the product of Drosophila syd gene, required for the functional interaction of kinesin I with axonal cargo. Studies of the similar gene in mouse suggested that this protein may interact with, and regulate the activity of numerous protein kinases of the JNK signaling pathway, and thus function as a scaffold protein in neuronal cells. The C. elegans counterpart of this gene is found to regulate synaptic vesicle transport possibly by integrating JNK signaling and kinesin-1 transport. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. | SP Function: | Gene Ontology:
molecular function: cellular component: molecular function: cellular component: molecular function: molecular function: biological process: biological process: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H014634_01
Name: Mitogen-activated protein kinase 8 interacting protein 3 |
Sum Func: The protein encoded by this gene shares similarity with the product of Drosophila syd gene, required for the functional interaction of kinesin I with axonal cargo. Studies of the similar gene in mouse suggested that this protein may interact with, and regulate the activity of numerous protein kinases of the JNK signaling pathway, and thus function as a scaffold protein in neuronal cells. The C. elegans counterpart of this gene is found to regulate synaptic vesicle transport possibly by integrating JNK signaling and kinesin-1 transport. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. | SP Function: | Gene Ontology:
molecular function: cellular component: molecular function: cellular component: molecular function: molecular function: biological process: biological process: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003499_01
Name: CD79B antigen (immunoglobulin-associated beta) |
Sum Func: The B lymphocyte antigen receptor is a multimeric complex which includes the antigen-specific component, surface immunoglobulin (Ig). Surface Ig non-covalently associates with 2 other proteins, Ig-alpha and Ig-beta, which are necessary for expression and function of the B-cell antigen receptor. This gene encodes the Ig-beta protein of the B-cell antigen component. Alternative splicing results in two known transcript variants. | SP Function: associated to surface igm-receptor; may be involved in signal transduction. | Gene Ontology:
biological process: biological process: cellular component: molecular function: |
BioCarta Pathways:
1: BCR Signaling Pathway 2: B Cell Receptor Complex 3: CTCF: First Multivalent Nuclear Factor |
KEGG Pathways: |
| Unique id : H003948_01
Name: Nuclear factor (erythroid-derived 2), 45kDa |
Sum Func: | SP Function: required for activity at the locus control region (lcr) upstream of the globin gene complexes. requires p18 nf-e2 for binding to the nf-e2 motif. may play a role in all aspects of hemoglobin production: globin synthesis, heme synthesis, and the procurement of iron. | Gene Ontology:
biological process: biological process: biological process: cellular component: biological process: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H000640_01
Name: Ets variant gene 4 (E1A enhancer binding protein, E1AF) |
Sum Func: | SP Function: transcriptional activator that binds to the enhancer of the adenovirus e1a gene; the core-binding sequence is 5′[ac]gga[at]gt-3′. | Gene Ontology:
cellular component: biological process: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H013956_01
Name: Kruppel-like factor 1 (erythroid) |
Sum Func: | SP Function: binds to the caccc box in the beta-globin gene promoter and activates transcription. probably serves as a general switch factor for erythroid development. | Gene Ontology:
cellular component: biological process: biological process: molecular function: molecular function: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H007370_01
Name: Kruppel-like factor 13 |
Sum Func: KLF13 belongs to a family of transcription factors that contain 3 classical zinc finger DNA-binding domains consisting of a zinc atom tetrahedrally coordinated by 2 cysteines and 2 histidines (C2H2 motif). These transcription factors bind to GC-rich sequences and related GT and CACCC boxes (Scohy et al., 2000 [PubMed 11087666]).[supplied by OMIM] | SP Function: represses transcription by binding to the bte site, a gc-rich dna element, in competition with the activator sp1. it also represses transcription by interacting with the corepressor sin3a and hdac1. activates rantes expression in t cells. | Gene Ontology:
molecular function: molecular function: cellular component: biological process: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002057_01
Name: Zinc finger protein 42 (myeloid-specific retinoic acid-responsive) |
Sum Func: | SP Function: may be one regulator of transcriptional events during hemopoietic development. | Gene Ontology:
cellular component: biological process: biological process: molecular function: molecular function: molecular function: |
BioCarta Pathways:
1: Overview of telomerase protein component gene hTert Transcriptional Regulation |
KEGG Pathways: |
| Unique id : H016113_01
Name: Homeo box B8 |
Sum Func: This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, which are located on different chromosomes and consist of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXB genes located in a cluster on chromosome 17. Hoxb8 knockout mice exhibit an excessive pathologic grooming behavior,leading to hair removal and self-inflicted wounds at overgroomed sites. This behavior is similar to the behavior of humans suffering from the obsessive-compulsive spectrum disorder (OCD) trichotillomania. | SP Function: sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. | Gene Ontology:
biological process: cellular component: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002315_01
Name: Transcription factor AP-4 (activating enhancer binding protein 4) |
Sum Func: | SP Function: transcription factor that activates both viral and cellular genes by binding to the symmetrical dna sequence 5′- cagctg-3′. | Gene Ontology:
molecular function: biological process: cellular component: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H000315_01
Name: Nuclear factor I/C (CCAAT-binding transcription factor) |
Sum Func: | SP Function: recognizes and binds the palindromic sequence 5′- ttggcnnnnngccaa-3′ present in viral and cellular promoters and in the origin of replication of adenovirus type 2. these proteins are individually capable of activating transcription and replication. | Gene Ontology:
biological process: cellular component: biological process: molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H000251_01
Name: Mediterranean fever |
Sum Func: MEFV was identified as the gene that when mutated causes Mediterranean fever, a hereditary periodic fever syndrome. MEFV is expressed in granulocytes and myeloid bone marrow precursors. | SP Function: probably controls the inflammatory response in myelomonocytic cells at the level of the cytoskeleton organization. | Gene Ontology:
molecular function: cellular component: biological process: cellular component: cellular component: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H013484_01
Name: H2.0-like homeo box 1 (Drosophila) |
Sum Func: | SP Function: putative transcription factor involved in embryogenesis and hematopoiesis. may play an important role in lymphocytes and certain developing tissues. | Gene Ontology:
biological process: cellular component: biological process: molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003787_01
Name: LIM domain only 2 (rhombotin-like 1) |
Sum Func: LMO2 encodes a cysteine-rich, two LIM-domain protein that is required for yolk sac erythropoiesis. The LMO2 protein has a central and crucial role in hematopoietic development and is highly conserved. The LMO2 transcription start site is located approximately 25 kb downstream from the 11p13 T-cell translocation cluster (11p13 ttc), where a number T-cell acute lymphoblastic leukemia-specific translocations occur. | SP Function: binds to the basic helix-loop-helix protein tal-1. this interaction seems to be critical for the regulation of red blood cell development. | Gene Ontology:
biological process: biological process: cellular component: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H015892_01
Name: Polyhomeotic-like 1 (Drosophila) |
Sum Func: This gene is a homolog of the Drosophila polyhomeotic gene, which is a member of the Polycomb group of genes. The gene product is a component of a multimeric protein complex that contains EDR2 and the vertebrate Polycomb protein BMH1. The gene product, the EDR2 protein, and the Drosophila polyhomeotic protein share 2 highly conserved domains, named homology domains I and II. These domains are involved in protein-protein interactions and may mediate heterodimerization of the protein encoded by this gene and the EDR2 protein. | SP Function: involved in the regulation of hox gene expression and segment specification during paraxial mesoderm and neural crest development (by similarity). | Gene Ontology:
molecular function: biological process: cellular component: molecular function: |
BioCarta Pathways:
1: The PRC2 Complex Sets Long-term Gene Silencing Through Modification of Histone Tails |
KEGG Pathways: |
| Unique id : H012191_01
Name: Meis1, myeloid ecotropic viral integration site 1 homolog (mouse) |
Sum Func: Homeobox genes, of which the most well-characterized category is represented by the HOX genes, play a crucial role in normal development. In addition, several homeoproteins are involved in neoplasia. MEIS1 encodes a homeobox protein belonging to the TALE (‘three amino acid loop extension’) family of homeodomain-containing proteins. | SP Function: | Gene Ontology:
molecular function: biological process: cellular component: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002241_01
Name: POU domain, class 2, transcription factor 1 |
Sum Func: | SP Function: transcription factor that binds to the octamer motif (5′-atttgcat-3′) and activates the promoters of the genes for some small nuclear rnas (snrna) and of genes such as those for histone h2b and immunoglobulins. modulates transcription transactivation by nr3c1, ar and pgr (by similarity). | Gene Ontology:
cellular component: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003580_01
Name: Nuclear factor I/X (CCAAT-binding transcription factor) |
Sum Func: | SP Function: recognizes and binds the palindromic sequence 5′- ttggcnnnnngccaa-3′ present in viral and cellular promoters and in the origin of replication of adenovirus type 2. these proteins are individually capable of activating transcription and replication. | 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: |
| Unique id : H011704_01
Name: GATA binding protein 1 (globin transcription factor 1) |
Sum Func: This gene encodes a protein which belongs to the GATA family of transcription factors. The protein plays an important role in erythroid development by regulating the switch of fetal hemoglobin to adult hemoglobin. Mutations in this gene have been associated with X-linked dyserythropoietic anemia and thrombocytopenia. | SP Function: transcriptional activator which probably serves as a general switch factor for erythroid development. it binds to dna sites with the consensus sequence (a/t)gata(a/g) within regulatory regions of globin genes and of other genes expressed in erythroid cells. | Gene Ontology:
biological process: cellular component: cellular component: biological process: biological process: molecular function: molecular function: |
BioCarta Pathways:
1: Hemoglobin’s Chaperone |
KEGG Pathways: |
| Unique id : H010176_01
Name: Homeo box C6 |
Sum Func: This gene belongs to the homeobox family, members of which encode a highly conserved family of transcription factors that play important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, consisting of 9 to 11 genes arranged in tandem, and located on different chromosomes. This gene is one of several HOXC genes located in a cluster on chromosome 12. Three genes, HOXC5, HOXC4 and HOXC6, are co-transcribed from a primary transcript. Subsequent processing results in gene-specific transcripts, which sometimes share the 5′ non-coding exon. The product of this gene may contribute to the breast cell phenotype through co-operative interactions with other HOX-derived proteins and repression of their target genes. Two alternatively spliced transcripts encoding different isoforms have been characterized to date. | SP Function: sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. | Gene Ontology:
biological process: cellular component: biological process: biological process: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H007160_01
Name: E2F transcription factor 2 |
Sum Func: The protein encoded by this gene is a member of the E2F family of transcription factors. The E2F family plays a crucial role in the control of cell cycle and action of tumor suppressor proteins and is also a target of the transforming proteins of small DNA tumor viruses. The E2F proteins contain several evolutionally conserved domains found in most members of the family. These domains include a DNA binding domain, a dimerization domain which determines interaction with the differentiation regulated transcription factor proteins (DP), a transactivation domain enriched in acidic amino acids, and a tumor suppressor protein association domain which is embedded within the transactivation domain. This protein and another 2 members, E2F1 and E2F3, have an additional cyclin binding domain. This protein binds specifically to retinoblastoma protein pRB in a cell-cycle dependent manner, and it exhibits overall 46% amino acid identity to E2F1. | SP Function: transcription activator that binds dna cooperatively with dp proteins through the e2 recognition site, 5′-tttc[cg]cgc- 3′ found in the promoter region of a number of genes whose products are involved in cell cycle regulation or in dna replication. the drtf1/e2f complex functions in the control of cell-cycle progression from g1 to s phase. e2f-2 binds specifically to rb1 protein, in a cell-cycle dependent manner. | Gene Ontology:
molecular function: cellular component: molecular function: biological process: biological process: molecular function: cellular component: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H012261_01
Name: Homeo box C6 |
Sum Func: This gene belongs to the homeobox family, members of which encode a highly conserved family of transcription factors that play important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, consisting of 9 to 11 genes arranged in tandem, and located on different chromosomes. This gene is one of several HOXC genes located in a cluster on chromosome 12. Three genes, HOXC5, HOXC4 and HOXC6, are co-transcribed from a primary transcript. Subsequent processing results in gene-specific transcripts, which sometimes share the 5′ non-coding exon. The product of this gene may contribute to the breast cell phenotype through co-operative interactions with other HOX-derived proteins and repression of their target genes. Two alternatively spliced transcripts encoding different isoforms have been characterized to date. | SP Function: sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. | Gene Ontology:
biological process: cellular component: biological process: biological process: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002070_01
Name: Transcription factor 3 (E2A immunoglobulin enhancer binding factors E12/E47) |
Sum Func: | SP Function: heterodimers between tcf3 and tissue-specific basic helix-loop-helix (bhlh) proteins play major roles in determining tissue-specific cell fate during embryogenesis, like muscle or early b-cell differentiation. dimers bind dna on e-box motifs: 5′- canntg-3′. binds to the kappa-e2 site in the kappa immunoglobulin gene enhancer. | Gene Ontology:
biological process: cellular component: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H014209_01
Name: Notch homolog 1, translocation-associated (Drosophila) |
Sum Func: This gene encodes a member of the Notch family. Members of this Type 1 transmembrane protein family share structural characteristics including an extracellular domain consisting of multiple epidermal growth factor-like (EGF) repeats, and an intracellular domain consisting of multiple, different domain types. Notch family members play a role in a variety of developmental processes by controlling cell fate decisions. The Notch signaling network is an evolutionarily conserved intercellular signaling pathway which regulates interactions between physically adjacent cells. In Drosophilia, notch interaction with its cell-bound ligands (delta, serrate) establishes an intercellular signaling pathway that plays a key role in development. Homologues of the notch-ligands have also been identified in human, but precise interactions between these ligands and the human notch homologues remain to be determined. This protein is cleaved in the trans-Golgi network, and presented on the cell surface as a heterodimer. This protein functions as a receptor for membrane bound ligands, and may play multiple roles during development. | SP Function: functions as a receptor for membrane-bound ligands jagged1, jagged2 and delta1 to regulate cell-fate determination. upon ligand activation through the released notch intracellular domain (nicd) it forms a transcriptional activator complex with rbp-j kappa and activates genes of the enhancer of split locus. affects the implementation of differentiation, proliferation and apoptotic programs. may be important for normal lymphocyte function. in altered form, may contribute to transformation or progression in some t-cell neoplasms. involved in the maturation of both cd4+ and cd8+ cells in the thymus (by similarity). | Gene Ontology:
molecular function: biological process: biological process: cellular component: molecular function: biological process: biological process: |
BioCarta Pathways:
1: Segmentation Clock 2: Proteolysis and Signaling Pathway of Notch 3: Presenilin action in Notch and Wnt signaling |
KEGG Pathways: |
| Unique id : H007855_01
Name: V-maf musculoaponeurotic fibrosarcoma oncogene homolog B (avian) |
Sum Func: The protein encoded by this gene is a basic leucine zipper (bZIP) transcription factor that plays an important role in the regulation of lineage-specific hematopoiesis. The encoded nuclear protein represses ETS1-mediated transcription of erythroid-specific genes in myeloid cells. This gene contains no introns. | SP Function: plays a pivotal role in regulating lineage-specific hematopoiesis by repressing ets1-mediated transcription of erythroid-specific genes in myeloid cells (by similarity). | Gene Ontology:
molecular function: cellular component: biological process: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H005603_01
Name: High-mobility group box 3 |
Sum Func: | SP Function: binds preferentially single-stranded dna and unwinds double stranded dna (by similarity). | Gene Ontology:
molecular function: cellular component: biological process: cellular component: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H004836_01
Name: GDP-mannose pyrophosphorylase A |
Sum Func: This gene is thought to encode a GDP-mannose pyrophosphorylase. This enzyme catalyzes the reaction which converts mannose-1-phosphate and GTP to GDP-mannose which is involved in the production of N-linked oligosaccharides. | SP Function: | Gene Ontology:
biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H001522_01
Name: Aldo-keto reductase family 1, member B1 (aldose reductase) |
Sum Func: This gene encodes a member of the aldo/keto reductase superfamily, which consists of more than 40 known enzymes and proteins. This member catalyzes the reduction of a number of aldehydes, including the aldehyde form of glucose, and is thereby implicated in the development of diabetic complications by catalyzing the reduction of glucose to sorbitol. There are a few putative pseudogenes for this gene, and one of them has been confirmed and mapped to chromosome 3. | SP Function: catalyzes the nadph-dependent reduction of a wide variety of carbonyl-containing compounds to their corresponding alcohols with a broad range of catalytic efficiencies. | Gene Ontology:
molecular function: biological process: molecular function: cellular component: molecular function: |
BioCarta Pathways: | KEGG Pathways:
1: Pentose and glucuronate interconversions |
| Unique id : H011651_01
Name: 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 |
Sum Func: | SP Function: synthesis and degradation of fructose 2,6-bisphosphate. | Gene Ontology:
molecular function: biological process: molecular function: molecular function: molecular function: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H005772_01
Name: Phosphomannomutase 2 |
Sum Func: Phosphomannomutase 2 catalyzes the isomerization of mannose 6-phosphate to mannose 1-phosphate. Mannose 1-phosphate is a precursor to GDP-mannose necessary for the synthesis of dolichol-P-oligosaccharides. Mutations in the gene have been shown to cause defects in the protein glycosylation pathway manifest as carbohydrate-deficient glycoprotein syndrome type I. | SP Function: involved in the synthesis of the gdp-mannose and dolichol-phosphate-mannose required for a number of critical mannosyl transfer reactions (by similarity). | Gene Ontology:
biological process: biological process: cellular component: molecular function: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H001704_01
Name: Protein phosphatase 2, regulatory subunit B (B56), gamma isoform |
Sum Func: The product of this gene belongs to the phosphatase 2A regulatory subunit B family. Protein phosphatase 2A is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. The B regulatory subunit might modulate substrate selectivity and catalytic activity. This gene encodes a gamma isoform of the regulatory subunit B56 subfamily. Alternatively spliced transcript variants encoding different isoforms have been identified. | SP Function: the b regulatory subunit might modulate substrate selectivity and catalytic activity, and also might direct the localization of the catalytic enzyme to a particular subcellular compartment. | Gene Ontology:
cellular component: molecular function: cellular component: cellular component: molecular function: molecular function: biological process: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H000670_01
Name: Interferon stimulated gene 20kDa |
Sum Func: | SP Function: | Gene Ontology:
biological process: molecular function: cellular component: cellular component: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003036_01
Name: Bone morphogenetic protein 7 (osteogenic protein 1) |
Sum Func: The bone morphogenetic proteins (BMPs) are a family of secreted signaling molecules that can induce ectopic bone growth. Many BMPs are part of the transforming growth factor-beta (TGFB) superfamily. BMPs were originally identified by an ability of demineralized bone extract to induce endochondral osteogenesis in vivo in an extraskeletal site. Based on its expression early in embryogenesis, the BMP encoded by this gene has a proposed role in early development. In addition, the fact that this BMP is closely related to BMP5 and BMP7 has lead to speculation of possible bone inductive activity. | SP Function: induces cartilage and bone formation. may be the osteoinductive factor responsible for the phenomenon of epithelial osteogenesis. plays a role in calcium regulation and bone homeostasis. | Gene Ontology:
biological process: molecular function: biological process: molecular function: biological process: |
BioCarta Pathways:
1: ALK in cardiac myocytes |
KEGG Pathways: |
| Unique id : H011715_01
Name: Plexin B2 |
Sum Func: | SP Function: | Gene Ontology:
biological process: cellular component: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H009608_01
Name: Absent in melanoma 1 |
Sum Func: | SP Function: may function as suppressor of malignant melanoma. it may exert its effects through interactions with the cytoskeleton. | Gene Ontology:
biological process: cellular component: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H012762_01
Name: POU domain, class 2, transcription factor 3 |
Sum Func: | SP Function: | Gene Ontology:
cellular component: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H009473_01
Name: Chromosome 6 open reading frame 80 |
Sum Func: This gene is located in a region close to the locus of the pseudogene of chemokine (C-C motif) receptor-like 1 on chromosome 6. The specific function of this gene has not yet been determined. | SP Function: | Gene Ontology:
molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H008794_01
Name: Solute carrier family 43, member 1 |
Sum Func: | SP Function: | Gene Ontology:
cellular component: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H008614_01
Name: Cold inducible RNA binding protein |
Sum Func: | SP Function: seems to play an essential role in cold-induced suppression of cell proliferation. | Gene Ontology:
molecular function: cellular component: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H009951_01
Name: Exportin, tRNA (nuclear export receptor for tRNAs) |
Sum Func: This gene encodes a protein belonging to the RAN-GTPase exportin family that mediates export of tRNA from the nucleus to the cytoplasm. Translocation of tRNA to the cytoplasm occurs once exportin has bound both tRNA and GTP-bound RAN. | SP Function: mediates nuclear export of all trnas. | Gene Ontology:
cellular component: molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H000887_01
Name: Prosaposin (variant Gaucher disease and variant metachromatic leukodystrophy) |
Sum Func: Prosaposin is a 511-amino acid glycoprotein which is a precursor for 4 saposins that are designated A, B, C, and D (Morimoto et al., 1989 [PubMed 2717620]). Each domain of the precursor protein is approximately 80 amino acid residues long; has nearly identical placement of cysteine residues, glycosylation sites, and helicoregions; and is flanked by proteolytic cleavage sites. Proteolytic cleavage of prosaposin at each domain boundary is predicted to give rise to 4 saposin proteins. The PSAP gene can be said to be polycistronic.[supplied by OMIM] | SP Function: saposin d is a specific sphingomyelin phosphodiesterase activator (ec 3.1.4.12). | Gene Ontology:
molecular function: cellular component: biological process: cellular component: molecular function: biological process: biological process: cellular component: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H010777_01
Name: Unc-119 homolog (C. elegans) |
Sum Func: This gene is specifically expressed in the photoreceptors in the retina. The encoded product shares strong homology with the C. elegans unc119 protein and it can functionally complement the C. elegans unc119 mutation. It has been localized to the photoreceptor synapses in the outer plexiform layer of the retina, and suggested to play a role in the mechanism of photoreceptor neurotransmitter release through the synaptic vesicle cycle. Two transcript variants encoding different isoforms have been described for this gene. | SP Function: may play a role in the mechanism of photoreceptor neurotransmitter release through the synaptic vesicle cycle. | Gene Ontology:
cellular component: biological process: cellular component: biological process: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H014131_01
Name: Microtubule-associated protein 1 light chain 3 beta |
Sum Func: The product of this gene is a subunit of neuronal microtubule-associated MAP1A and MAP1B proteins, which are involved in microtubule assembly and important for neurogenesis. Studies on the rat homolog implicate a role for this gene in autophagy, a process that involves the bulk degradation of cytoplasmic component. | SP Function: | Gene Ontology: | BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002361_01
Name: Casein kinase 1, gamma 2 |
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 (by similarity). | Gene Ontology:
molecular function: biological process: molecular function: biological process: biological process: molecular function: molecular function: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H000999_01
Name: Glycosylphosphatidylinositol specific phospholipase D1 |
Sum Func: Many proteins are tethered to the extracellular face of eukaryotic plasma membranes by a glycosylphosphatidylinositol (GPI) anchor. The GPI-anchor is a glycolipid found on many blood cells. The protein encoded by this gene is a GPI degrading enzyme. Glycosylphosphatidylinositol specific phospholipase D1 hydrolyzes the inositol phosphate linkage in proteins anchored by phosphatidylinositol glycans, thereby releasing the attached protein from the plasma membrane. | SP Function: this protein hydrolyzes the inositol phosphate linkage in proteins anchored by phosphatidylinositol glycans (gpi-anchor) thus releasing these proteins from the membrane. | Gene Ontology:
biological process: cellular component: molecular function: molecular function: cellular component: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H000172_01
Name: Kinesin family member 2C |
Sum Func: The protein encoded by this gene is a member of kinesin-like protein family. Proteins of this family are microtubule-dependent molecular motors that transport organelles within cells and move chromosomes during cell division. This protein is important for anaphase chromosome segregation and may be required to coordinate the onset of sister centromere separation. | SP Function: present throughout the cell cycle, associates with centromeres at early prophase, and remains associated with the centromere until after telophase (by similarity). | Gene Ontology:
molecular function: biological process: molecular function: cellular component: cellular component: molecular function: biological process: cellular component: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H011237_01
Name: Methionine-tRNA synthetase |
Sum Func: Aminoacyl-tRNA synthetases are a class of enzymes that charge tRNAs with their cognate amino acids. The protein encoded by this gene belongs to the class I family of tRNA synthetases. | SP Function: | Gene Ontology:
molecular function: cellular component: molecular function: molecular function: biological process: biological process: cellular component: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002418_01
Name: Fc fragment of IgE, low affinity II, receptor for (CD23A) |
Sum Func: The human leukocyte differentiation antigen CD23 (FCE2) is a key molecule for B-cell activation and growth. It is the low-affinity receptor for IgE. The truncated molecule can be secreted, then functioning as a potent mitogenic growth factor.[supplied by OMIM] | SP Function: this receptor has essential roles in the regulation of ige production and in the differentiation of b-cells (it is a b- cell-specific antigen). | Gene Ontology:
molecular function: cellular component: molecular function: molecular function: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003890_01
Name: Myelin associated glycoprotein |
Sum Func: The protein encoded by this gene is a type I membrane protein and member of the immunoglobulin superfamily. It is thought to be involved in the process of myelination. It is a lectin that binds to sialylated glycoconjugates and mediates certain myelin-neuron cell-cell interactions. Two alternatively spliced transcripts encoding different isoforms have been described for this gene. | SP Function: adhesion molecule in postnatal neural development that mediates sialic-acid dependent cell-cell interactions between neuronal and myelinating cells. preferentially binds to alpha2,3- linked sialic acid (by similarity). | Gene Ontology:
biological process: cellular component: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003118_01
Name: Interferon regulatory factor 2 |
Sum Func: IRF2 encodes interferon regulatory factor 2, a member of the interferon regulatory transcription factor (IRF) family. IRF2 competitively inhibits the IRF1-mediated transcriptional activation of interferons alpha and beta, and presumably other genes that employ IRF1 for transcription activation. However, IRF2 also functions as a transcriptional activator of histone H4. | SP Function: specifically binds to the upstream regulatory region of type i ifn and ifn-inducible mhc class i genes (the interferon consensus sequence (ics)) and represses those genes. | Gene Ontology:
molecular function: biological process: biological process: biological process: cellular component: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H011942_01
Name: Activating transcription factor 5 |
Sum Func: | SP Function: this protein binds the camp response element (cre) (consensus: 5′-gtgacgt[ac][ag]-3′), a sequence present in many viral and cellular promoters. | Gene Ontology:
molecular function: molecular function: cellular component: biological process: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002429_01
Name: Tumor necrosis factor receptor superfamily, member 7 |
Sum Func: The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor is required for generation and long-term maintenance of T cell immunity. It binds to ligand CD70, and plays a key role in regulating B-cell activation and immunoglobulin synthesis. This receptor transduces signals that lead to the activation of NF-kappaB and MAPK8/JNK. Adaptor proteins TRAF2 and TRAF5 have been shown to mediate the signaling process of this receptor. CD27-binding protein (SIVA), a proapoptotic protein, can bind to this receptor and is thought to play an important role in the apoptosis induced by this receptor. | SP Function: receptor for tnfsf7/cd27l. may play a role in survival of activated t-cells. may play a role in apoptosis through association with siva. | Gene Ontology:
biological process: molecular function: biological process: molecular function: biological process: biological process: cellular component: biological process: biological process: biological process: biological process: biological process: cellular component: cellular component: cellular component: biological process: biological process: biological process: biological process: molecular function: molecular function: biological process: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H007340_01
Name: Putative translation initiation factor |
Sum Func: | SP Function: | Gene Ontology:
biological process: cellular component: biological process: biological process: biological process: biological process: molecular function: molecular function: biological process: |
BioCarta Pathways:
1: Eukaryotic protein translation |
KEGG Pathways: |
| Unique id : H001713_01
Name: S100 calcium binding protein A11 (calgizzarin) |
Sum Func: The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of cells, and involved in the regulation of a number of cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21. This protein may function in motility, invasion, and tubulin polymerization. Chromosomal rearrangements and altered expression of this gene have been implicated in tumor metastasis. Alternative splicing of the 5′ UTR results in two gene products. | SP Function: | Gene Ontology:
molecular function: cellular component: biological process: biological process: cellular component: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H010167_01
Name: GTP cyclohydrolase I feedback regulator |
Sum Func: GTP cyclohydrolase I feedback regulatory protein binds to and mediates tetrahydrobiopterin inhibition of GTP cyclohydrolase I. The regulatory protein, GCHFR, consists of a homodimer. It is postulated that GCHFR may play a role in regulating phenylalanine metabolism in the liver and in the production of biogenic amine neurotransmitters and nitric oxide. | SP Function: mediates tetrahydrobiopterin inhibition of gtp cyclohydrolase i. this inhibition is reversed by l-phenylalanine. | Gene Ontology:
biological process: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H000426_01
Name: Adaptor protein with pleckstrin homology and src homology 2 domains |
Sum Func: The APS protein, expressed in B lymphocytes, contains pleckstrin homology and src homology 2 (SH2) domains. In Burkitt lymphoma cell lines, it is tyrosine phosphorylated in response to B cell receptor stimulation. Because it binds Shc independent of stimulation and Grb2 after stimulation, it appears to play a role in signal transduction from the receptor to Shc/Grb2. | SP Function: | Gene Ontology:
molecular function: molecular function: biological process: cellular component: biological process: cellular component: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H009957_01
Name: Vacuolar protein sorting 39 (yeast) |
Sum Func: This gene encodes a protein that may promote clustering and fusion of late endosomes and lysosomes. The protein may also act as an adaptor protein that modulates the transforming growth factor-beta response by coupling the transforming growth factor-beta receptor complex to the Smad pathway. | SP Function: | Gene Ontology:
biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H000515_01
Name: Lymphoid-restricted membrane protein |
Sum Func: The protein encode dby this gene is expressed in a developmentally regulated manner in lymphoid cell lines and tissues. The protein is localized to the cytoplasmic face of the endoplasmic reticulum. | SP Function: | Gene Ontology:
cellular component: biological process: cellular component: biological process: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H014122_01
Name: Poly(rC) binding protein 3 |
Sum Func: This gene encodes a member of the KH-domain protein subfamily. Proteins of this subfamily, also referred to as alpha-CPs, bind to RNA with a specificity for C-rich pyrimidine regions. Alpha-CPs play important roles in post-transcriptional activities and have different cellular distributions. This gene’s protein is found in the cytoplasm, yet it lacks the nuclear localization signals found in other subfamily members. Multiple polyadenylation sites exist for this gene. | SP Function: single-stranded nucleic acid binding protein that binds preferentially to oligo dc (by similarity). | Gene Ontology:
molecular function: molecular function: biological process: cellular component: cellular component: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H004471_01
Name: Chromosome 22 open reading frame 1 |
Sum Func: | SP Function: | Gene Ontology:
biological process: molecular function: molecular function: molecular function: cellular component: molecular function: cellular component: biological process: biological process: molecular function: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H012354_01
Name: Argininosuccinate synthetase |
Sum Func: The protein encoded by this gene catalyzes the penultimate step of the arginine biosynthetic pathway. There are approximately 10 to 14 copies of this gene including the pseudogenes scattered across the human genome, among which the one located on chromosome 9 appears to be the only functional gene for argininosuccinate synthetase. Mutations in the chromosome 9 copy of ASS cause citrullinemia. Two transcript variants encoding the same protein have been found for this gene. | SP Function: | Gene Ontology:
molecular function: biological process: molecular function: cellular component: molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways:
1: Urea cycle and metabolism of amino groups |
| Unique id : H008885_01
Name: Arginine-glutamic acid dipeptide (RE) repeats |
Sum Func: | SP Function: | Gene Ontology:
cellular component: molecular function: biological process: molecular function: |
BioCarta Pathways:
1: Catabolic Pathways for Arginine , Histidine, Glutamate, Glutamine, and Proline |
KEGG Pathways: |
| Unique id : H001583_01
Name: Isocitrate dehydrogenase 2 (NADP+), mitochondrial |
Sum Func: Isocitrate dehydrogenases catalyze the oxidative decarboxylation of isocitrate to 2-oxoglutarate. These enzymes belong to two distinct subclasses, one of which utilizes NAD(+) as the electron acceptor and the other NADP(+). Five isocitrate dehydrogenases have been reported: three NAD(+)-dependent isocitrate dehydrogenases, which localize to the mitochondrial matrix, and two NADP(+)-dependent isocitrate dehydrogenases, one of which is mitochondrial and the other predominantly cytosolic. Each NADP(+)-dependent isozyme is a homodimer. The protein encoded by this gene is the NADP(+)-dependent isocitrate dehydrogenase found in the mitochondria. It plays a role in intermediary metabolism and energy production. This protein may tightly associate or interact with the pyruvate dehydrogenase complex. | SP Function: plays a role in intermediary metabolism and energy production. it may tightly associate or interact with the pyruvate dehydrogenase complex. | Gene Ontology:
biological process: molecular function: molecular function: biological process: biological process: biological process: cellular component: cellular component: molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H010281_01
Name: Likely ortholog of mouse myocytic induction/differentiation originator |
Sum Func: | SP Function: | Gene Ontology:
molecular function: molecular function: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H009376_01
Name: ORF |
Sum Func: | SP Function: | Gene Ontology: | BioCarta Pathways: | KEGG Pathways: |
| Unique id : H009071_01
Name: HS1 binding protein |
Sum Func: The protein encoded by this gene is known to associate with HS1, a substrate of Src family tyrosine kinases. It also interacts with the product of PKD2 gene, mutations in which are associated with autosomal-dominant polycystic kidney disease, and with F-actin-binding protein, cortactin. It was earlier thought that this gene product is mainly localized in the mitochondria, however, recent studies indicate it to be localized in the cell body. | SP Function: directly associates with hs1, through binding to its n- terminal region. may function in promoting cell survival. may also associate with cortactin/ems1 in nonlymphoid cells. | Gene Ontology:
cellular component: cellular component: molecular function: cellular component: cellular component: molecular function: cellular component: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H004208_01
Name: Malignancy-associated protein |
Sum Func: | SP Function: adhesion molecule in postnatal neural development that mediates sialic-acid dependent cell-cell interactions between neuronal and myelinating cells. preferentially binds to alpha2,3- linked sialic acid (by similarity). | Gene Ontology: | BioCarta Pathways: | KEGG Pathways: |
| Unique id : H007025_01
Name: Cold inducible RNA binding protein |
Sum Func: | SP Function: seems to play an essential role in cold-induced suppression of cell proliferation. | Gene Ontology:
molecular function: cellular component: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H000840_01
Name: Signal sequence receptor, beta (translocon-associated protein beta) |
Sum Func: The signal sequence receptor (SSR) is a glycosylated endoplasmic reticulum (ER) membrane receptor associated with protein translocation across the ER membrane. The SSR consists of 2 subunits, a 34-kD glycoprotein (alpha-SSR or SSR1) and a 22-kD glycoprotein (beta-SSR or SSR2). The human beta-signal sequence receptor gene (SSR2) maps to chromosome bands 1q21-q23. | SP Function: trap proteins are part of a complex whose function is to bind calcium to the er membrane and thereby regulate the retention of er resident proteins. | Gene Ontology:
biological process: cellular component: cellular component: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H004277_01
Name: DEAD (Asp-Glu-Ala-Asp) box polypeptide 46 |
Sum Func: This gene encodes a member of the DEAD box protein family. DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure, such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. The protein encoded by this gene is a component of the 17S U2 snRNP complex; it plays an important role in pre-mRNA splicing. | SP Function: | Gene Ontology:
molecular function: molecular function: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H010714_01
Name: Chloride channel 6 |
Sum Func: The CLCN family of voltage-dependent chloride channel genes comprises nine members (CLCN1-7, Ka and Kb) which demonstrate quite diverse functional characteristics while sharing significant sequence homology. Chloride channel 6 and 7 belong to a subbranch of this family. Chloride channel 6 has four different alternatively spliced transcript variants. This gene is in close vicinity to two other kidney-specific chloride channel genes, CLCNKA and CLCNKB. | SP Function: voltage-gated chloride channel. chloride channels have several functions including the regulation of cell volume; membrane potential stabilization, signal transduction and transepithelial transport. | Gene Ontology:
biological process: cellular component: biological process: cellular component: biological process: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H006566_01
Name: Surfeit 1 |
Sum Func: This gene encodes a protein localized to the inner mitochondrial membrane and thought to be involved in the biogenesis of the cytochrome c oxidase complex. The protein is a member of the SURF1 family, which includes the related yeast protein SHY1 and rickettsial protein RP733. The gene is located in the surfeit gene cluster, a group of very tightly linked genes that do not share sequence similarity, where it shares a bidirectional promoter with SURF2 on the opposite strand. Defects in this gene are a cause of Leigh syndrome, a severe neurological disorder that is commonly associated with systemic cytochrome c oxidase deficiency. | SP Function: probably involved in the biogenesis of the cox complex. | Gene Ontology:
biological process: biological process: molecular function: biological process: cellular component: cellular component: cellular component: cellular component: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H007902_01
Name: Amyloid beta (A4) precursor protein-binding, family B, member 3 |
Sum Func: The protein encoded by this gene is a member of the APBB protein family. It is found in the cytoplasm and binds to the intracellular domain of the Alzheimer’s disease beta-amyloid precursor protein (APP) as well as to other APP-like proteins. It is thought that the protein encoded by this gene may modulate the internalization of APP. Six transcript variants encoding six different isoforms have been found for this gene. | SP Function: may modulate the internalization of beta-amyloid precursor protein. | Gene Ontology:
cellular component: biological process: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H000390_01
Name: Microsomal glutathione S-transferase 2 |
Sum Func: The MAPEG (Membrane Associated Proteins in Eicosanoid and Glutathione metabolism) family consists of six human proteins, several of which are involved in the production of leukotrienes and prostaglandin E, important mediators of inflammation. This gene encodes a protein which catalyzes the conjugation of leukotriene A4 and reduced glutathione to produce leukotriene C4. | SP Function: can catalyze the production of ltc4 from lta4 and reduced glutathione. can catalyze the conjugation of 1-chloro-2,4- dinitrobenzene with reduced glutathione. | Gene Ontology:
biological process: biological process: molecular function: molecular function: cellular component: biological process: cellular component: cellular component: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H015369_01
Name: KIAA0889 protein |
Sum Func: | SP Function: | Gene Ontology: | BioCarta Pathways: | KEGG Pathways: |
| Unique id : H000910_01
Name: Solute carrier family 1 (neutral amino acid transporter), member 5 |
Sum Func: | SP Function: has a broad substrate specificity, a preference for zwitterionic amino acids, and a sodium-dependence. it accepts as substrates all neutral amino acids, including glutamine, asparagine, and branched-chain and aromatic amino acids, and excludes methylated amino acids, anionic amino acids, and cationic amino acids. act as a cell surface receptor for feline endogenous virus rd114, baboon m7 endogenous virus and type d simian retroviruses. | Gene Ontology:
biological process: cellular component: cellular component: biological process: molecular function: molecular function: molecular function: molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H000419_01
Name: Pleckstrin homology, Sec7 and coiled-coil domains 1(cytohesin 1) |
Sum Func: Pleckstrin homology, Sec7 and coiled/coil domains 1 (PSCD1) is a member of the PSCD family. Members of this family have identical structural organization that consists of an N-terminal coiled-coil motif, a central Sec7 domain, and a C-terminal pleckstrin homology (PH) domain. The coiled-coil motif is involved in homodimerization, the Sec7 domain contains guanine-nucleotide exchange protein (GEP) activity, and the PH domain interacts with phospholipids and is responsible for association of PSCDs with membranes. Members of this family appear to mediate the regulation of protein sorting and membrane trafficking. The PSCD1 is highly expressed in natural killer and peripheral T cells, and regulates the adhesiveness of integrins at the plasma membrane of lymphocytes. PSCD1 protein is 83% homologous to PSCD2. | SP Function: promotes guanine-nucleotide exchange on arf1 and arf5. promotes the activation of arf through replacement of gdp with gtp. | Gene Ontology:
molecular function: biological process: |
BioCarta Pathways:
1: ADP-Ribosylation Factor |
KEGG Pathways: |
| Unique id : H001506_01
Name: Pyrroline-5-carboxylate reductase 1 |
Sum Func: This gene encodes an enzyme that catalyzes the NAD(P)H-dependent conversion of pyrroline-5-carboxylate to proline. This enzyme may also play a physiologic role in the generation of NADP(+) in some cell types. The protein forms a homopolymer and localizes to the mitochondrion. Alternate splicing results in two transcript variants encoding different isoforms. | SP Function: | Gene Ontology:
molecular function: biological process: biological process: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H006441_01
Name: Golgi-specific brefeldin A resistance factor 1 |
Sum Func: | SP Function: promotes guanine-nucleotide exchange on arf5. promotes the activation of arf5 through replacement of gdp with gtp (by similarity). | Gene Ontology:
molecular function: cellular component: biological process: |
BioCarta Pathways:
1: ADP-Ribosylation Factor |
KEGG Pathways: |
| Unique id : H000327_01
Name: BTB and CNC homology 1, basic leucine zipper transcription factor 1 |
Sum Func: | SP Function: transcriptional regulator that acts as repressor or activator. binds, in-vitro, to nf-e2 binding sites. play important roles in coordinating transcription activation and repression by mafk. | Gene Ontology:
cellular component: molecular function: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H004001_01
Name: Trefoil factor 3 (intestinal) |
Sum Func: Members of the trefoil family are characterized by having at least one copy of the trefoil motif, a 40-amino acid domain that contains three conserved disulfides. They are stable secretory proteins expressed in gastrointestinal mucosa. Their functions are not defined, but they may protect the mucosa from insults, stabilize the mucus layer and affect healing of the epithelium. This gene is expressed in goblet cells of the intestines and colon. This gene and two other related trefoil family member genes are found in a cluster on chromosome 21. | SP Function: may have a role in promoting cell migration (motogen). | Gene Ontology:
biological process: biological process: cellular component: |
BioCarta Pathways:
1: Trefoil Factors Initiate Mucosal Healing |
KEGG Pathways: |
| Unique id : H001599_01
Name: Prepronociceptin |
Sum Func: | SP Function: nociceptin is the ligand of the opioid receptor-like receptor (oprl1). it may act as a transmitter in the brain by modulating nociceptive and locomotor behavior. may be involved in neuronal differentiation and development (by similarity). | Gene Ontology:
cellular component: molecular function: biological process: molecular function: biological process: biological process: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002511_01
Name: KH-type splicing regulatory protein (FUSE binding protein 2) |
Sum Func: | SP Function: | Gene Ontology:
molecular function: biological process: biological process: cellular component: biological process: molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H008685_01
Name: Metallothionein 2A |
Sum Func: | SP Function: metallothioneins have a high content of cysteine residues that bind various heavy metals; these proteins are transcriptionally regulated by both heavy metals and glucocorticoids. | Gene Ontology:
molecular function: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H000065_01
Name: BCL2/adenovirus E1B 19kDa interacting protein 3-like |
Sum Func: This gene is a member of the BCL2/adenovirus E1B 19 kd-interacting protein (BNIP) family. It interacts with the E1B 19 kDa protein which is responsible for the protection of virally-induced cell death, as well as E1B 19 kDa-like sequences of BCL2, also an apoptotic protector. The protein encoded by this gene is a functional homolog of BNIP3, a proapoptotic protein. This protein may function simultaneously with BNIP3 and may play a role in tumor suppression. | SP Function: induces apoptosis. interacts with viral and cellular anti-apoptosis proteins. can overcome the suppressers bcl-2 and bcl-xl, although high levels of bcl-xl expression will inhibit apoptosis. may function as a tumor suppressor. | Gene Ontology:
biological process: biological process: cellular component: cellular component: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002565_01
Name: TNF receptor-associated factor 3 |
Sum Func: The protein encoded by this gene is a member of the TNF receptor associated factor (TRAF) protein family. TRAF proteins associate with, and mediate the signal transduction from, members of the TNF receptor (TNFR) superfamily. This protein participates in the signal transduction of CD40, a TNFR family member important for the activation of the immune response. This protein is found to be a critical component of the lymphotoxin-beta receptor (LTbetaR) signaling complex, which induces NF-kappaB activation and cell death initiated by LTbeta ligation. Epstein-Barr virus encoded latent infection membrane protein-1 (LMP1) can interact with this and several other members of the TRAF family, which may be essential for the oncogenic effects of LMP1. Three alternatively spliced transcript variants encoding two distinct isoforms have been reported. | SP Function: adapter protein and signal transducer that links members of the tumor necrosis factor receptor family to different signaling pathways by association with the receptor cytoplasmic domain and kinases. seems to be involved in activation of nf- kappa-b and jnk and in apoptosis. is regulated by tank/itraf which competes with tnfrsf5/cd40 for binding. seems to play a role t- cell dependent immune responses. | Gene Ontology:
biological process: biological process: molecular function: molecular function: biological process: molecular function: biological process: molecular function: biological process: cellular component: molecular function: molecular function: |
BioCarta Pathways:
1: CD40L Signaling Pathway 2: TACI and BCMA stimulation of B cell immune responses. 3: TNFR2 Signaling Pathway |
KEGG Pathways: |
| Unique id : H002872_01
Name: Malate dehydrogenase 1, NAD (soluble) |
Sum Func: Malate dehydrogenase catalyzes the reversible oxidation of malate to oxaloacetate, utilizing the NAD/NADH cofactor system in the citric acid cycle. The protein encoded by this gene is localized to the cytoplasm and may play pivotal roles in the malate-aspartate shuttle that operates in the metabolic coordination between cytosol and mitochondria. | SP Function: | Gene Ontology:
molecular function: cellular component: biological process: molecular function: molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H001847_01
Name: Glutamic-oxaloacetic transaminase 2, mitochondrial (aspartate aminotransferase 2) |
Sum Func: Glutamic-oxaloacetic transaminase is a pyridoxal phosphate-dependent enzyme which exists in cytoplasmic and inner-membrane mitochondrial forms, GOT1 and GOT2, respectively. GOT plays a role in amino acid metabolism and the urea and tricarboxylic acid cycles. The two enzymes are homodimeric and show close homology. | SP Function: | Gene Ontology:
biological process: biological process: molecular function: biological process: cellular component: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002150_01
Name: Glutamic-oxaloacetic transaminase 1, soluble (aspartate aminotransferase 1) |
Sum Func: Glutamic-oxaloacetic transaminase is a pyridoxal phosphate-dependent enzyme which exists in cytoplasmic and mitochondrial forms, GOT1 and GOT2, respectively. GOT plays a role in amino acid metabolism and the urea and tricarboxylic acid cycles. The two enzymes are homodimeric and show close homology. | SP Function: | Gene Ontology:
biological process: biological process: molecular function: biological process: cellular component: molecular function: |
BioCarta Pathways:
1: Malate-aspartate shuttle |
KEGG Pathways:
2: Alanine and aspartate metabolism 4: Arginine and proline metabolism |
| Unique id : H001549_01
Name: Malate dehydrogenase 2, NAD (mitochondrial) |
Sum Func: Malate dehydrogenase catalyzes the reversible oxidation of malate to oxaloacetate, utilizing the NAD/NADH cofactor system in the citric acid cycle. The protein encoded by this gene is localized to the mitochondria and may play pivotal roles in the malate-aspartate shuttle that operates in the metabolic coordination between cytosol and mitochondria. | SP Function: | Gene Ontology:
molecular function: biological process: cellular component: molecular function: biological process: |
BioCarta Pathways:
1: Malate-aspartate shuttle 2: Shuttle for transfer of acetyl groups from mitochondria to the cytosol |
KEGG Pathways: |
| Unique id : H002638_01
Name: Interleukin 10 receptor, beta |
Sum Func: The protein encoded by this gene belongs to the cytokine receptor family. It is an accessory chain essential for the active interleukin 10 receptor complex. Coexpression of this and IL10RA proteins has been shown to be required for IL10-induced signal transduction. This gene and three other interferon receptor genes, IFAR2, IFNAR1, and IFNGR2, form a class II cytokine receptor gene cluster located in a small region on chromosome 21. | SP Function: receptor for il10 and il22. serves as an accessory chain essential for the active il10 receptor complex and to initiate il10-induced signal transduction events. | Gene Ontology:
biological process: molecular function: biological process: biological process: cellular component: cellular component: molecular function: cellular component: molecular function: molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003233_01
Name: Biliverdin reductase A |
Sum Func: | SP Function: reduces the gamma-methene bridge of the open tetrapyrrole, biliverdin ix alpha, to bilirubin with the concomitant oxidation of a nadh or nadph cofactor. | Gene Ontology:
molecular function: biological process: molecular function: molecular function: |
BioCarta Pathways:
1: IL-10 Anti-inflammatory Signaling Pathway |
KEGG Pathways: |
| Unique id : H002933_01
Name: Biliverdin reductase B (flavin reductase (NADPH)) |
Sum Func: | SP Function: catalyzes electron transfer from reduced pyridine nucleotides to flavins as well as methylene blue, pyrroloquinoline quinone, riboflavin, or methemoglobin. possible role in protecting cells from oxidative damage or in regulating iron metabolism. in the liver, converts biliverdin to bilirubin. | Gene Ontology:
molecular function: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003781_01
Name: Interleukin 10 receptor, alpha |
Sum Func: The protein encoded by this gene is a receptor for interleukin 10. This protein is structurally related to interferon receptors. It has been shown to mediate the immunosuppressive signal of interleukin 10, and thus inhibits the synthesis of proinflammatory cytokines. This receptor is reported to promote survival of progenitor myeloid cells through the insulin receptor substrate-2/PI 3-kinase/AKT pathway. Activation of this receptor leads to tyrosine phosphorylation of JAK1 and TYK2 kinases. | SP Function: receptor for il-10; binds il-10 with a high affinity. | Gene Ontology:
molecular function: cellular component: molecular function: cellular component: molecular function: |
BioCarta Pathways:
1: IL-10 Anti-inflammatory Signaling Pathway 2: IL22 Soluble Receptor Signaling Pathway |
KEGG Pathways: |
| Unique id : H000632_01
Name: Guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3 |
Sum Func: | SP Function: guanine nucleotide-binding proteins (g proteins) are involved as modulators or transducers in various transmembrane signaling systems. g(k) is the stimulatory g protein of receptor- regulated k(+) channels. | Gene Ontology:
biological process: molecular function: molecular function: biological process: molecular function: biological process: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H005429_01
Name: Guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2 |
Sum Func: | SP Function: guanine nucleotide-binding proteins (g proteins) are involved as modulators or transducers in various transmembrane signaling systems. the g(i) proteins are involved in hormonal regulation of adenylate cyclase: they inhibit the cyclase in response to beta-adrenergic stimuli. | Gene Ontology:
biological process: biological process: molecular function: molecular function: biological process: biological process: molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H015734_01
Name: Sphingosine kinase 2 |
Sum Func: | SP Function: | Gene Ontology:
molecular function: molecular function: biological process: biological process: cellular component: molecular function: molecular function: cellular component: molecular function: biological process: molecular function: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H008919_01
Name: Endothelial differentiation, sphingolipid G-protein-coupled receptor, 5 |
Sum Func: This gene encodes a member of the G protein-coupled receptors, as well as the EDG family of proteins. This protein participates in sphingosine 1-phosphate-induced cell proliferation, survival, and transcriptional activation | SP Function: | Gene Ontology:
biological process: biological process: cellular component: molecular function: molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H001368_01
Name: Phosphoinositide-3-kinase, class 2, beta polypeptide |
Sum Func: The protein encoded by this gene belongs to the phosphoinositide 3-kinase (PI3K) family. PI3-kinases play roles in signaling pathways involved in cell proliferation, oncogenic transformation, cell survival, cell migration, and intracellular protein trafficking. This protein contains a lipid kinase catalytic domain as well as a C-terminal C2 domain, a characteristic of class II PI3-kinases. C2 domains act as calcium-dependent phospholipid binding motifs that mediate translocation of proteins to membranes, and may also mediate protein-protein interactions. The PI3-kinase activity of this protein is sensitive to low nanomolar levels of the inhibitor wortmanin. The C2 domain of this protein was shown to bind phospholipids but not Ca2+, which suggests that this enzyme may function in a calcium-independent manner. | SP Function: phosphorylates ptdins and ptdins4p with a preference for ptdins. does not phosphorylate ptdins(4,5)p2. | Gene Ontology:
molecular function: biological process: cellular component: molecular function: molecular function: cellular component: cellular component: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H016485_01
Name: Sphingosine kinase 1 |
Sum Func: Sphingosine-1-phosphate (SPP) is a novel lipid messenger with both intracellular and extracellular functions. Intracellularly, it regulates proliferation and survival, and extracellularly, it is a ligand for EDG1 (MIM 601974). Various stimuli increase cellular levels of SPP by activation of sphingosine kinase (SPHK), the enzyme that catalyzes the phosphorylation of sphingosine. Competitive inhibitors of SPHK block formation of SPP and selectively inhibit cellular proliferation induced by a variety of factors, including platelet-derived growth factor (e.g., MIM 173430) and serum.[supplied by OMIM] | SP Function: | Gene Ontology:
molecular function: cellular component: molecular function: biological process: molecular function: cellular component: biological process: biological process: |
BioCarta Pathways:
1: Phospholipids as signaling intermediaries |
KEGG Pathways: |
| Unique id : H001185_01
Name: Arylsulfatase A |
Sum Func: The protein encoded by this gene hydrolyzes cerebroside sulfate to cerebroside and sulfate. Defects in this gene lead to metachromatic leukodystrophy (MLD), a progressive demyelination disease which results in a variety of neurological symptoms and ultimately death. | SP Function: hydrolyzes cerebroside sulfate. | Gene Ontology:
molecular function: molecular function: molecular function: cellular component: molecular function: biological process: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H006143_01
Name: UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 4 |
Sum Func: This gene is a member of the beta-1,3-galactosyltransferase (beta3GalT) gene family. This family encodes type II membrane-bound glycoproteins with diverse enzymatic functions using different donor substrates (UDP-galactose and UDP-N-acetylglucosamine) and different acceptor sugars (N-acetylglucosamine, galactose, N-acetylgalactosamine). The beta3GalT genes are distantly related to the Drosophila Brainiac gene and have the protein coding sequence contained in a single exon. The beta3GalT proteins also contain conserved sequences not found in the beta4GalT or alpha3GalT proteins. The carbohydrate chains synthesized by these enzymes are designated as type 1, whereas beta4GalT enzymes synthesize type 2 carbohydrate chains. The ratio of type 1:type 2 chains changes during embryogenesis. By sequence similarity, the beta3GalT genes fall into at least two groups: beta3GalT4 and 4 other beta3GalT genes (beta3GalT1-3, beta3GalT5). This gene is oriented telomere to centromere in close proximity to the ribosomal protein S18 gene. The functionality of the encoded protein is limited to ganglio-series glycolipid biosynthesis. | SP Function: involved in gm1/gd1b/ga1 ganglioside biosynthesis. | Gene Ontology:
cellular component: molecular function: molecular function: molecular function: cellular component: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H010686_01
Name: Hexosaminidase A (alpha polypeptide) |
Sum Func: Hexosaminidase A is the alpha subunit of the lysosomal enzyme beta-hexosaminidase that, together with the cofactor GM2 activator protein, catalyzes the degradation of the ganglioside GM2, and other molecules containing terminal N-acetyl hexosamines. Beta-hexosaminidase is composed of two subunits, alpha and beta, which are encoded by separate genes. Both beta-hexosaminidase alpha and beta subunits are members of family 20 of glycosyl hydrolases. Mutations in the alpha or beta subunit genes lead to an accumulation of GM2 ganglioside in neurons and neurodegenerative disorders termed the GM2 gangliosidoses. Alpha subunit gene mutations lead to Tay-Sachs disease (GM2-gangliosidosis type I). | SP Function: beta-hexosaminidase a is responsible for the degradation of gm2 gangliosides, and a variety of other molecules containing terminal n-acetyl hexosamines, in the brain and other tissues. the form b is active against certain oligosaccharides. the form s has no measurable activity. | Gene Ontology:
molecular function: biological process: biological process: molecular function: cellular component: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002064_01
Name: Galactosidase, beta 1 |
Sum Func: | SP Function: cleaves beta-linked terminal galactosyl residues from gangliosides, glycoproteins, and glycosaminoglycans. | Gene Ontology:
molecular function: cellular component: biological process: molecular function: cellular component: |
BioCarta Pathways: | KEGG Pathways:
3: Glycosaminoglycan degradation |
| Unique id : H000076_01
Name: UDP-glucose ceramide glucosyltransferase |
Sum Func: Glycosphingolipids (GSLs) are a group of membrane components that contain lipid and sugar moieties. They are present in essentially all animal cells and are believed to have important roles in various cellular processes. UDP-glucose ceramide glucosyltransferase catalyzes the first glycosylation step in glycosphingolipid biosynthesis. The product, glucosylceramide, is the core structure of more than 300 GSLs. UGCG is widely expressed and transcription is upregulated during keratinocyte differentiation. | SP Function: may serve as a “flippase” as well as a glucosyltransferase that transfers glucose to ceramide. | Gene Ontology:
molecular function: cellular component: biological process: cellular component: biological process: biological process: cellular component: cellular component: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H008567_01
Name: Sialidase 1 (lysosomal sialidase) |
Sum Func: The protein encoded by this gene encodes the lysosomal enzyme, which cleaves terminal sialic acid residues from substrates such as glycoproteins and glycolipids. In the lysosome, this enzyme is part of a heterotrimeric complex together with beta-galactosidase and cathepsin A (the latter also referred to as ‘protective protein’). Mutations in this gene can lead to sialidosis. | SP Function: catalyzes the removal of sialic acid (n-acetylneuramic acid) moities from glycoproteins and glycolipids. to be active, it is strictly dependent on its presence in the multienzyme complex. appears to have a preference for alpha 2-3 and alpha 2-6 sialyl linkage. | Gene Ontology:
biological process: molecular function: molecular function: cellular component: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H014980_01
Name: Glucosidase, beta; acid (includes glucosylceramidase) |
Sum Func: This gene encodes a lysosomal membrane protein that cleaves the beta-glucosidic linkage of glycosylceramide, an intermediate in glycolipid metabolism. Mutations in this gene cause Gaucher disease, a lysosomal storage disease characterized by an accumulation of glucocerebrosides. A related pseudogene is approximately 12 kb downstream of this gene on chromosome 1. Alternative splicing results in multiple transcript variants encoding the same protein. | SP Function: | Gene Ontology:
biological process: molecular function: molecular function: cellular component: cellular component: biological process: cellular component: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002673_01
Name: Tyrosine hydroxylase |
Sum Func: Tyrosine hydroxylase (EC 1.14.16.2) is involved in the conversion of phenylalanine to dopamine. As the rate-limiting enzyme in the synthesis of catecholamines, tyrosine hydroxylase has a key role in the physiology of adrenergic neurons.[supplied by OMIM] | SP Function: plays an important role in the physiology of adrenergic neurones. | Gene Ontology:
biological process: biological process: molecular function: molecular function: biological process: biological process: biological process: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H000692_01
Name: Actinin, alpha 2 |
Sum Func: Alpha actinins belong to the spectrin gene superfamily which represents a diverse group of cytoskeletal proteins, including the alpha and beta spectrins and dystrophins. Alpha actinin is an actin-binding protein with multiple roles in different cell types. In nonmuscle cells, the cytoskeletal isoform is found along microfilament bundles and adherens-type junctions, where it is involved in binding actin to the membrane. In contrast, skeletal, cardiac, and smooth muscle isoforms are localized to the Z-disc and analogous dense bodies, where they help anchor the myofibrillar actin filaments. This gene encodes a muscle-specific, alpha actinin isoform that is expressed in both skeletal and cardiac muscles. Transcript variants resulting from the use of multiple poly_A sites have been observed. | SP Function: f-actin cross linking protein which is thought to anchor actin to a variety of intracellular structures. this is a bundling protein. | Gene Ontology:
molecular function: cellular component: molecular function: cellular component: molecular function: molecular function: |
BioCarta Pathways:
1: Cell to Cell Adhesion Signaling 2: Integrin Signaling Pathway 3: uCalpain and friends in Cell spread |
KEGG Pathways: |
| Unique id : H005666_01
Name: Talin 1 |
Sum Func: This gene encodes a cytoskeletal protein which is concentrated in areas of cell-substratum and cell-cell contacts. This protein plays a significant role in the assembly of actin filaments and in spreading and migration of various cell types, including fibroblasts and osteoclasts. It codistributes with integrins in the cell surface membrane in order to assist in the attachment of adherent cells to extracellular matrices and of lymphocytes to other cells. The N-terminus of this protein contains elements for localization to cell-extracellular matrix junctions. The C-terminus contains binding sites for proteins such as beta-1-integrin, actin, and vinculin. | SP Function: probably involved in connections of major cytoskeletal structures to the plasma membrane. high molecular weight cytoskeletal protein concentrated at regions of cell-substratum contact and, in lymphocytes, at cell-cell contacts (by similarity). | Gene Ontology:
molecular function: biological process: biological process: cellular component: cellular component: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002803_01
Name: Vinculin |
Sum Func: Vinculin is a cytoskeletal protein associated with cell-cell and cell-matrix junctions, where it is thought to function as one of several interacting proteins involved in anchoring F-actin to the membrane. Multiple alternatively spliced transcript variants have been found for this gene, but the biological validity of some variants has not been determined. Human vinculin protein exhibits a greater than 95% sequence identity to the chicken vinculin protein. | SP Function: involved in cell adhesion. may be involved in the attachment of the actin-based microfilaments to the plasma membrane. | Gene Ontology:
molecular function: cellular component: biological process: cellular component: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002770_01
Name: Calpain, small subunit 1 |
Sum Func: Calpains are a ubiquitous, well-conserved family of calcium-dependent, cysteine proteases. Calpain families have been implicated in neurodegenerative processes, as their activation can be triggered by calcium influx and oxidative stress. Calpain I and II are heterodimeric with distinct large subunits associated with common small subunits, all of which are encoded by different genes. This gene encodes a small subunit common to both calpain I and II and is associated with myotonic dystrophy. Two transcript variants encoding the same protein have been identified for this gene. | SP Function: calcium-regulated non-lysosomal thiol-protease which catalyze limited proteolysis of substrates involved in cytoskeletal remodelling and signal tranduction. | Gene Ontology:
molecular function: molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H008350_01
Name: Protein phosphatase 1, regulatory (inhibitor) subunit 12B |
Sum Func: Myosin light chain phosphatase (MLCP) consists of three subunits- catalytic subunit, large subunit/myosin binding subunit (MBS) and small subunit (sm-M20). This gene is a multi-functional gene which encodes both MBS and sm-M20. MLCP regulates myosins and the dephosphorylation is enhanced by the presence of MBS. The sm-M20 is suggested to play a regulatory role in muscle contraction by binding to MBS. MBS is also encoded by another gene, myosin light chain phosphatase target subunit 1. sm-M20 shows higher binding affinity to this gene product than to myosin light chain phosphatase target subunit 2-MBS even though the two MBS proteins are highly similar. Although both MBSs increase the activity of MLCP, myosin light chain phosphatase target subunit 1-MBS is a more efficient activator. There are four alternatively spliced transcript variants described; two alter the MBS coding region and two alter the sm-M20 coding region of this gene. | SP Function: | Gene Ontology:
molecular function: biological process: biological process: |
BioCarta Pathways:
1: CCR3 signaling in Eosinophils 2: Thrombin signaling and protease-activated receptors 3: Integrin Signaling Pathway 4: PKC-catalyzed phosphorylation of inhibitory phosphoprotein of myosin phosphatase 5: Rac 1 cell motility signaling pathway 6: Rho cell motility signaling pathway |
KEGG Pathways: |
| Unique id : H002440_01
Name: Caveolin 1, caveolae protein, 22kDa |
Sum Func: The scaffolding protein encoded by this gene is the main component of the caveolae plasma membranes found in most cell types. The protein links integrin subunits to the tyrosine kinase FYN, an initiating step in coupling integrins to the Ras-ERK pathway and promoting cell cycle progression. The gene is a tumor suppressor gene candidate and a negative regulator of the Ras-p42/44 MAP kinase cascade. CAV1 and CAV2 are located next to each other on chromosome 7 and express colocalizing proteins that form a stable hetero-oligomeric complex. By using alternative initiation codons in the same reading frame, two isoforms (alpha and beta) are encoded by a single transcript from this gene. | SP Function: may act as a scaffolding protein within caveolar membranes. interacts directly with g-protein alpha subunits and can functionally regulate their activity (by similarity). | Gene Ontology:
biological process: cellular component: cellular component: molecular function: |
BioCarta Pathways:
1: Integrin Signaling Pathway 2: Actions of Nitric Oxide in the Heart |
KEGG Pathways: |
| Unique id : H002788_01
Name: Calpain 1, (mu/I) large subunit |
Sum Func: The calpains, calcium-activated neutral proteases, are nonlysosomal, intracellular cysteine proteases. The mammalian calpains include ubiquitous, stomach-specific, and muscle-specific proteins. The ubiquitous enzymes consist of heterodimers with distinct large, catalytic subunits associated with a common small, regulatory subunit. This gene encodes the large subunit of the ubiquitous enzyme, calpain 1. | SP Function: calcium-regulated non-lysosomal thiol-protease which catalyzes limited proteolysis of substrates involved in cytoskeletal remodelling and signal transduction. | Gene Ontology:
molecular function: molecular function: molecular function: cellular component: biological process: biological process: |
BioCarta Pathways:
1: Integrin Signaling Pathway 2: mCalpain and friends in Cell motility 3: Deregulation of CDK5 in Alzheimer’s Disease 4: uCalpain and friends in Cell spread |
KEGG Pathways:
1: Apoptosis |
| Unique id : H007056_01
Name: Talin 1 |
Sum Func: This gene encodes a cytoskeletal protein which is concentrated in areas of cell-substratum and cell-cell contacts. This protein plays a significant role in the assembly of actin filaments and in spreading and migration of various cell types, including fibroblasts and osteoclasts. It codistributes with integrins in the cell surface membrane in order to assist in the attachment of adherent cells to extracellular matrices and of lymphocytes to other cells. The N-terminus of this protein contains elements for localization to cell-extracellular matrix junctions. The C-terminus contains binding sites for proteins such as beta-1-integrin, actin, and vinculin. | SP Function: probably involved in connections of major cytoskeletal structures to the plasma membrane. high molecular weight cytoskeletal protein concentrated at regions of cell-substratum contact and, in lymphocytes, at cell-cell contacts (by similarity). | Gene Ontology:
molecular function: biological process: biological process: cellular component: cellular component: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H016089_01
Name: Caveolin 1, caveolae protein, 22kDa |
Sum Func: The scaffolding protein encoded by this gene is the main component of the caveolae plasma membranes found in most cell types. The protein links integrin subunits to the tyrosine kinase FYN, an initiating step in coupling integrins to the Ras-ERK pathway and promoting cell cycle progression. The gene is a tumor suppressor gene candidate and a negative regulator of the Ras-p42/44 MAP kinase cascade. CAV1 and CAV2 are located next to each other on chromosome 7 and express colocalizing proteins that form a stable hetero-oligomeric complex. By using alternative initiation codons in the same reading frame, two isoforms (alpha and beta) are encoded by a single transcript from this gene. | SP Function: may act as a scaffolding protein within caveolar membranes. interacts directly with g-protein alpha subunits and can functionally regulate their activity (by similarity). | Gene Ontology:
biological process: cellular component: cellular component: molecular function: |
BioCarta Pathways:
1: Integrin Signaling Pathway 2: Actions of Nitric Oxide in the Heart |
KEGG Pathways: |
| Unique id : H006797_01
Name: Talin 1 |
Sum Func: This gene encodes a cytoskeletal protein which is concentrated in areas of cell-substratum and cell-cell contacts. This protein plays a significant role in the assembly of actin filaments and in spreading and migration of various cell types, including fibroblasts and osteoclasts. It codistributes with integrins in the cell surface membrane in order to assist in the attachment of adherent cells to extracellular matrices and of lymphocytes to other cells. The N-terminus of this protein contains elements for localization to cell-extracellular matrix junctions. The C-terminus contains binding sites for proteins such as beta-1-integrin, actin, and vinculin. | SP Function: probably involved in connections of major cytoskeletal structures to the plasma membrane. high molecular weight cytoskeletal protein concentrated at regions of cell-substratum contact and, in lymphocytes, at cell-cell contacts (by similarity). | Gene Ontology:
molecular function: biological process: biological process: cellular component: cellular component: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H009536_01
Name: TP53 activated protein 1 |
Sum Func: | SP Function: | Gene Ontology:
cellular component: biological process: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002519_01
Name: Heat shock 70kDa protein 4 |
Sum Func: | SP Function: | Gene Ontology:
molecular function: molecular function: cellular component: biological process: biological process: biological process: |
BioCarta Pathways:
1: Hypoxia and p53 in the Cardiovascular system 2: Mechanism of Gene Regulation by Peroxisome Proliferators via PPARa(alpha) 3: Chaperones modulate interferon Signaling Pathway |
KEGG Pathways: |
| Unique id : H003180_01
Name: TATA box binding protein |
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 TBP, the TATA-binding protein. A distinctive feature of TBP is a long string of glutamines in the N-terminal. This region of the protein modulates the DNA binding activity of the C terminus, and modulation of DNA binding affects the rate of transcription complex formation and initiation of transcription. Mutations that expand the number of CAG repeats encoding this polyglutamine tract, and thus increase the length of the polyglutamine string, are associated with spinocerebellar ataxia 17, a neurodegenerative disorder classified as a polyglutamine disease. | SP Function: general transcription factor that functions at the core of the dna-binding multiprotein factor tfiid. binding of tfiid to the tata box is the initial transcriptional step of the pre- initiation complex (pic), playing a role in the activation of eukaryotic genes transcribed by rna polymerase ii. | Gene Ontology:
molecular function: molecular function: cellular component: molecular function: biological process: biological process: cellular component: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H000291_01
Name: TNF receptor-associated factor 4 |
Sum Func: The protein encoded by this gene is a member of the TNF receptor associated factor (TRAF) protein family. TRAF proteins are associated with, and mediate signal transduction from members of the TNF receptor superfamily. This protein has been shown to interact with neurotrophin receptor, p75 (NTR/NTSR1), and negatively regulate NTR induced cell death and NF-kappa B activation. This protein has been found to bind to p47phox, a cytosolic regulatory factor included in a multi-protein complex known as NAD(P)H oxidase. This protein thus, is thought to be involved in the oxidative activation of MAPK8/JNK. Two alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported. | SP Function: | Gene Ontology:
biological process: biological process: cellular component: biological process: cellular component: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H008177_01
Name: NDRG family member 2 |
Sum Func: This gene is a member of the N-myc downregulated gene family which belongs to the alpha/beta hydrolase superfamily. The protein encoded by this gene is a cytoplasmic protein that may play a role in neurite outgrowth. This gene may be involved in glioblastoma carcinogenesis. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. | SP Function: | Gene Ontology:
biological process: biological process: cellular component: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003264_01
Name: Caspase 9, apoptosis-related cysteine protease |
Sum Func: This gene encodes a protein which is a member of the cysteine-aspartic acid protease (caspase) family. Sequential activation of caspases plays a central role in the execution-phase of cell apoptosis. Caspases exist as inactive proenzymes which undergo proteolytic processing at conserved aspartic residues to produce 2 subunits, large and small, that dimerize to form the active enzyme. This protein is processed by caspase APAF1; this step is thought to be one of the earliest in the caspase activation cascade. Alternative splicing of this gene results in two transcript variants which encode different isoforms. | SP Function: isoform 2 lacks activity is an dominant-negative inhibitor of caspase-9. | Gene Ontology:
biological process: biological process: 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: West Nile Virus 3: AKT Signaling Pathway 4: Caspase Cascade in Apoptosis 5: Apoptotic Signaling in Response to DNA Damage 6: D4-GDI Signaling Pathway 7: Induction of apoptosis through DR3 and DR4/5 Death Receptors 8: Stress Induction of HSP Regulation 9: Role of Mitochondria in Apoptotic Signaling 10: Ras Signaling Pathway 11: Trefoil Factors Initiate Mucosal Healing |
KEGG Pathways: |
| Unique id : H015371_01
Name: Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa |
Sum Func: | SP Function: | Gene Ontology: | BioCarta Pathways: | KEGG Pathways: |
| Unique id : H000454_01
Name: Tumor necrosis factor, alpha-induced protein 1 (endothelial) |
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. Studies of a similar gene in mouse suggest that the expression of this gene is developmentally regulated in a tissue-specific manner. | SP Function: | Gene Ontology:
cellular component: biological process: molecular function: molecular function: cellular component: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H014854_01
Name: P53 target zinc finger protein |
Sum Func: This gene encodes a protein containing three zinc finger domains and a nuclear localization signal. The mRNA and the protein of this gene are upregulated by wildtype p53 and overexpression of this gene inhibits tumor cell growth, suggesting that this gene may have a role in the p53-dependent growth regulatory pathway. Alternative splicing of this gene results in two transcript variants encoding two isoforms differing in only one amino acid. | SP Function: | Gene Ontology:
molecular function: cellular component: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H005981_01
Name: Homeodomain interacting protein kinase 2 |
Sum Func: HIPK2 is a conserved serine/threonine nuclear kinase that interacts with homeodomain transcription factors.[supplied by OMIM] | SP Function: phosphorylates homeodomain transcription factors. may play a role as a corepressor for homeodomain transcription factors. | Gene Ontology:
molecular function: cellular component: biological process: cellular component: cellular component: biological process: biological process: biological process: molecular function: molecular function: biological process: molecular function: molecular function: molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H000059_01
Name: Etoposide induced 2.4 mRNA |
Sum Func: This gene has higher expression in p53-expressing cells than in control cells and is an immediate-early induction target of p53-mediated apoptosis. The protein encoded by this gene contains six putative transmembrane domains and may suppress cell growth by inducing apoptotic cell death through the caspase 9 and mitochondrial pathways. This gene is located on human chromosome 11q24, a region frequently altered in cancers. Alternative splicing results in two transcript variants encoding different isoforms. | SP Function: | Gene Ontology:
biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H005625_01
Name: TEA domain family member 1 (SV40 transcriptional enhancer factor) |
Sum Func: | SP Function: binds specifically and cooperatively to the sph and gt- iic “enhansons” (5′-gtggaatgt-3′) and activates transcription in vivo in a cell-specific manner. the activation function appears to be mediated by a limiting cell-specific transcriptional intermediary factor (tif). involved in cardiac development. binds to the m-cat motif. | Gene Ontology:
cellular component: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H010339_01
Name: BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase) |
Sum Func: The protein encoded by this gene localizes to the nucleus and it interacts with the RING finger domain of the breast cancer 1, early onset protein (BRCA1). This gene is thought to be a tumor suppressor gene that functions in the BRCA1 growth control pathway. There are multiple polyadenylation sites found in this gene. | SP Function: | Gene Ontology:
biological process: cellular component: molecular function: biological process: molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H006401_01
Name: Fas (TNFRSF6) associated factor 1 |
Sum Func: Interaction of Fas ligand (TNFSF6) with the FAS antigen (TNFRSF6) mediates programmed cell death, also called apoptosis, in a number of organ systems. The protein encoded by this gene binds to FAS antigen and can initiate apoptosis or enhance apoptosis initiated through FAS antigen. Initiation of apoptosis by the protein encoded by this gene requires a ubiquitin-like domain but not the FAS-binding domain. Two transcript variants encoding different protein isoforms have been described for this gene. | SP Function: | Gene Ontology:
biological process: molecular function: cellular component: |
BioCarta Pathways:
1: FAS signaling pathway ( CD95 ) |
KEGG Pathways: |
| Unique id : H003558_01
Name: Tumor protein p53 binding protein, 2 |
Sum Func: | SP Function: regulator that plays a central role in regulation of apoptosis and cell growth via its interactions. regulates tp53 by enhancing the dna binding and transactivation function of tp53 on the promoters of proapoptotic genes in vivo. inhibits the ability of appbp1 to conjugate nedd8 to cul1, and thereby decreases appbp1 ability to induce apoptosis. impedes cell cycle progression at g2/m. | Gene Ontology:
molecular function: biological process: cellular component: biological process: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H004162_01
Name: Fas (TNFRSF6) associated factor 1 |
Sum Func: Interaction of Fas ligand (TNFSF6) with the FAS antigen (TNFRSF6) mediates programmed cell death, also called apoptosis, in a number of organ systems. The protein encoded by this gene binds to FAS antigen and can initiate apoptosis or enhance apoptosis initiated through FAS antigen. Initiation of apoptosis by the protein encoded by this gene requires a ubiquitin-like domain but not the FAS-binding domain. Two transcript variants encoding different protein isoforms have been described for this gene. | SP Function: | Gene Ontology:
biological process: molecular function: cellular component: |
BioCarta Pathways:
1: FAS signaling pathway ( CD95 ) |
KEGG Pathways: |
| Unique id : H007630_01
Name: TP53 activated protein 1 |
Sum Func: | SP Function: | Gene Ontology:
cellular component: biological process: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H008143_01
Name: PTX1 protein |
Sum Func: | SP Function: | Gene Ontology: | BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003791_01
Name: Chemokine (C-C motif) ligand 13 |
Sum Func: This gene is one of several Cys-Cys (CC) cytokine genes clustered on the q-arm of chromosome 17. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. The cytokine encoded by this gene displays chemotactic activity for monocytes, lymphocytes, basophils and eosinophils, but not neutrophils. This chemokine plays a role in accumulation of leukocytes during inflammation. It may also be involved in the recruitment of monocytes into the arterial wall during atherosclerosis. | SP Function: chemotactic factor that attracts monocytes, lymphocytes, basophils and eosinophils, but not neutrophils. signals through ccr2b and ccr3 receptors. plays a role in the accumulation of leukocytes at both sides of allergic and nonallergic inflammation. may be involved in the recruitment of monocytes into the arterial wall during the disease process of atherosclerosis. may play a role in the monocyte attraction in tissues chronically exposed to exogenous pathogens. | Gene Ontology:
biological process: biological process: molecular function: molecular function: biological process: cellular component: biological process: biological process: cellular component: biological process: function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003902_01
Name: 24-dehydrocholesterol reductase |
Sum Func: This gene encodes a flavin adenine dinucleotide (FAD)-dependent oxidoreductase which catalyzes the reduction of the delta-24 double bond of sterol intermediates during cholesterol biosynthesis. The protein contains a leader sequence that directs it to the endoplasmic reticulum membrane. Misense mutations in this gene have been associated with desmosterolosis. Also, reduced expression of the gene occurs in the temporal cortex of Alzheimer disease patients and overexpression has been observed in cancer of the adrenal gland. | SP Function: catalyzes the reduction of the delta-24 double bond of sterol intermediates. protects cells from oxidative stress by reducing caspase 3 activity during apoptosis induced by oxidative stress. also protects against amyloid-beta peptide-induced apoptosis. | Gene Ontology:
cellular component: biological process: biological process: cellular component: cellular component: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H001749_01
Name: Diazepam binding inhibitor (GABA receptor modulator, acyl-Coenzyme A binding protein) |
Sum Func: | SP Function: binds medium- and long-chain acyl-coa esters with very high affinity and may function as an intracellular carrier of acyl-coa esters. it is also able to displace diazepam from the benzodiazepine (bzd) recognition site located on the gaba type a receptor. it is therefore possible that this protein also acts as a neuropeptide to modulate the action of the gaba receptor. | Gene Ontology:
molecular function: molecular function: molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003086_01
Name: Lectin, mannose-binding, 1 |
Sum Func: The protein encoded by this gene is a type I integral membrane protein localized in the intermediate region between the endoplasmic reticulum and the Golgi, presumably recycling between the two compartments. The protein is a mannose-specific lectin and is a member of a novel family of plant lectin homologs in the secretory pathway of animal cells. Mutations in the gene are associated with a coagulation defect. Using positional cloning, the gene was identified as the disease gene leading to combined factor V-factor VIII deficiency, a rare, autosomal recessive disorder in which both coagulation factors V and VIII are diminished. | SP Function: mannose-specific lectin. may recognize sugar residues of glycoproteins, glycolipids, or glycosylphosphatidyl inositol anchors and may be involved in the sorting or recycling of proteins, lipids, or both. the lman1-mcfd2 complex forms a specific cargo receptor for the er-to-golgi transport of selected proteins. | Gene Ontology:
biological process: cellular component: biological process: cellular component: cellular component: molecular function: biological process: biological process: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H001028_01
Name: Alpha-2-glycoprotein 1, zinc |
Sum Func: | SP Function: stimulates lipid degradation in adipocytes and causes the extensive fat losses associated with some advanced cancers. may bind polyunsaturated fatty acids. | Gene Ontology:
biological process: cellular component: molecular function: biological process: biological process: cellular component: biological process: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H000736_01
Name: 3-hydroxy-3-methylglutaryl-Coenzyme A synthase 1 (soluble) |
Sum Func: | SP Function: this enzyme condenses acetyl-coa with acetoacetyl-coa to form hmg-coa, which is the substrate for hmg-coa reductase. | Gene Ontology:
biological process: biological process: cellular component: molecular function: biological process: cellular component: molecular function: |
BioCarta Pathways:
1: SREBP control of lipid synthesis |
KEGG Pathways:
1: Synthesis and degradation of ketone bodies |
| Unique id : H004099_01
Name: Phosphatidic acid phosphatase type 2A |
Sum Func: The protein encoded by this gene is a member of the phosphatidic acid phosphatase (PAP) family. PAPs convert phosphatidic acid to diacylglycerol, and function in de novo synthesis of glycerolipids as well as in receptor-activated signal transduction mediated by phospholipase D. This protein is an integral membrane glycoprotein, and has been shown to be a surface enzyme that plays an active role in the hydrolysis and uptake of lipids from extracellular space. The expression of this gene is found to be regulated by androgen in a prostatic adenocarcinoma cell line. At least two alternatively spliced transcript variants encoding distinct isoforms have been described. | SP Function: | Gene Ontology:
biological process: molecular function: cellular component: cellular component: biological process: molecular function: biological process: biological process: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H001575_01
Name: UDP-glucose dehydrogenase |
Sum Func: The enzyme UDP-glucose dehydrogenase (UDPGDH; EC 1.1.1.22) converts UDP-glucose to UDP-glucuronate, a critical component of the glycosaminoglycans, hyaluronan, chondroitin sulfate, and heparan sulfate.[supplied by OMIM] | SP Function: | Gene Ontology:
molecular function: biological process: biological process: biological process: molecular function: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H005886_01
Name: Tumor protein D52 |
Sum Func: | SP Function: | Gene Ontology:
biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H000256_01
Name: IQ motif containing GTPase activating protein 2 |
Sum Func: | SP Function: binds to activated cdc42 and rac1 but does not seem to stimulate their gtpase activity. associates with calmodulin. | Gene Ontology:
molecular function: molecular function: molecular function: cellular component: molecular function: biological process: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H001535_01
Name: Sorbitol dehydrogenase |
Sum Func: | SP Function: | Gene Ontology:
molecular function: molecular function: molecular function: biological process: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H000577_01
Name: Keratin 19 |
Sum Func: The protein encoded by this gene is a member of the keratin family. The keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into cytokeratins and hair keratins. The type I cytokeratins consist of acidic proteins which are arranged in pairs of heterotypic keratin chains. Unlike its related family members, this smallest known acidic cytokeratin is not paired with a basic cytokeratin in epithelial cells. It is specifically expressed in the periderm, the transiently superficial layer that envelopes the developing epidermis. The type I cytokeratins are clustered in a region of chromosome 17q12-q21. | SP Function: | Gene Ontology:
cellular component: cellular component: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H006429_01
Name: Spermine synthase |
Sum Func: The protein encoded by this gene belongs to the spermidine/spermine synthases family. This gene encodes an ubiquitous enzyme of polyamine metabolism. | SP Function: | Gene Ontology:
biological process: biological process: molecular function: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways:
1: Urea cycle and metabolism of amino groups |
| Unique id : H009428_01
Name: Stearoyl-CoA desaturase (delta-9-desaturase) |
Sum Func: | SP Function: terminal component of the liver microsomal stearyl-coa desaturase system, that utilizes o(2) and electrons from reduced cytochrome b5 to catalyze the insertion of a double bond into a spectrum of fatty acyl-coa substrates including palmitoyl-coa and stearoyl-coa. | Gene Ontology:
cellular component: biological process: cellular component: molecular function: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H004696_01
Name: Calcium/calmodulin-dependent protein kinase kinase 2, 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. This protein plays a role in the calcium/calmodulin-dependent (CaM) kinase cascade by phosphorylating the downstream kinases CaMK1 and CaMK4. Seven transcript variants encoding six distinct isoforms have been identified for this gene. Additional splice variants have been described but their full-length nature has not been determined. The identified isoforms exhibit a distinct ability to undergo autophosphorylation and to phosphorylate the downstream kinases. | SP Function: | Gene Ontology:
molecular function: biological process: biological process: biological process: biological process: molecular function: molecular function: molecular function: molecular function: biological process: biological process: molecular function: molecular function: cellular component: cellular component: biological process: biological process: biological process: molecular function: molecular function: molecular function: biological process: biological process: molecular function: |
BioCarta Pathways:
1: Ca++/ Calmodulin-dependent Protein Kinase Activation |
KEGG Pathways: |
| Unique id : H007232_01
Name: Ankylosis, progressive homolog (mouse) |
Sum Func: This gene encodes a multipass transmembrane protein that is expressed in joints and other tissues and controls pyrophosphate levels in cultured cells. Mutation at the mouse ‘progressive ankylosis’ (ank) locus causes a generalized, progressive form of arthritis accompanied by mineral deposition, formation of bony outgrowths, and joint destruction. The human homolog is virtually identical to the mouse protein and ANKH-mediated control of pyrophosphate levels has been suggested as a possible mechanism regulating tissue calcification and susceptibility to arthritis in higher animals. | SP Function: | Gene Ontology:
molecular function: molecular function: cellular component: biological process: cellular component: cellular component: biological process: biological process: molecular function: biological process: biological process: biological process: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H004975_01
Name: RNA binding motif protein 10 |
Sum Func: The protein encoded by this gene contains RNA recognition motif found in a variety of RNA binding proteins, including various hnRNP proteins, proteins implicated in regulation of alternative splicing, and protein components of snRNPs. In vitro studies showed that the rat homolog bound to RNA homopolymers, with a preference for G and U polyribonucleotides. This gene is part of a gene cluster on chromosome Xp11.23, and its 3′ end lies within 20 kb upstream of UBE1. Two transcript variants encoding different isoforms have been identified for this gene. | SP Function: not known. binds to rna homopolymers, with a preference for poly(g) and poly(u) and little for poly(a) (by similarity). | Gene Ontology:
molecular function: molecular function: biological process: cellular component: cellular component: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H000721_01
Name: Isopentenyl-diphosphate delta isomerase |
Sum Func: IDI1 encodes a peroxisomally-localized enzyme that catalyzes the interconversion of isopentenyl diphosphate (IPP) to its highly electrophilic isomer, dimethylallyl diphosphate (DMAPP), which are the substrates for the successive reaction that results in the synthesis of farnesyl diphosphate and, ultimately, cholesterol. It has been shown in peroxisomal deficiency diseases such as Zellweger syndrome and neonatal adrenoleukodystrophy that there is reduction in IPP isomerase activity. | SP Function: catalyzes the 1,3-allylic rearrangement of the homoallylic substrate isopentenyl (ipp) to its highly electrophilic allylic isomer, dimethylallyl diphosphate (dmapp). | Gene Ontology:
biological process: biological process: molecular function: molecular function: biological process: molecular function: cellular component: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002975_01
Name: Leukemia inhibitory factor receptor |
Sum Func: The leukemia inhibitory factor is a polyfunctional cytokine that affects the differentiation, survival, and proliferation of a wide variety of cells in the adult and the embryo. LIF action appears to be mediated through a high-affinity receptor complex composed of a low-affinity LIF binding chain (LIF receptor) and a high-affinity converter subunit, gp130. Both LIFR and gp130 are members of a family of cytokine receptors that includes components of the receptors for the majority of hematopoietic cytokines and for cytokines that affect other systems, including the ciliary neurotrophic factor, growth hormone and prolactin. | SP Function: signal-transducing molecule. may have a common pathway with il6st. the soluble form inhibits the biological activity of lif by blocking its binding to receptors on target cells. | Gene Ontology:
biological process: cellular component: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003522_01
Name: Glutathione reductase |
Sum Func: | SP Function: maintains high levels of reduced glutathione in the cytosol. | Gene Ontology:
molecular function: biological process: biological process: molecular function: molecular function: cellular component: biological process: |
BioCarta Pathways:
1: Free Radical Induced Apoptosis |
KEGG Pathways: |
| Unique id : H000269_01
Name: LIM protein (similar to rat protein kinase C-binding enigma) |
Sum Func: LIM domains are cysteine-rich double zinc fingers composed of 50 to 60 amino acids that are involved in protein-protein interactions. LIM domain-containing proteins are scaffolds for the formation of multiprotein complexes. The proteins are involved in cytoskeleton organization, cell lineage specification, organ development, and oncogenesis. Enigma family proteins (see ENIGMA; MIM 605900) possess a 100-amino acid PDZ domain in the N terminus and 1 to 3 LIM domains in the C terminus.[supplied by OMIM] | SP Function: | Gene Ontology:
molecular function: molecular function: cellular component: biological process: cellular component: molecular function: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H000425_01
Name: C-mer proto-oncogene tyrosine kinase |
Sum Func: | SP Function: | Gene Ontology:
molecular function: biological process: biological process: biological process: cellular component: biological process: molecular function: cellular component: 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 : H002508_01
Name: Tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta polypeptide |
Sum Func: This gene product belongs to the 14-3-3 family of proteins which mediate signal transduction by binding to phosphoserine-containing proteins. This highly conserved protein family is found in both plants and mammals, and this protein is 99% identical to the mouse, rat and sheep orthologs. The encoded protein interacts with IRS1 protein, suggesting a role in regulating insulin sensitivity. Two transcript variants differing in the 5′ UTR, but encoding the same protein, have been identified for this gene. | SP Function: | Gene Ontology:
molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H005908_01
Name: Flotillin 2 |
Sum Func: Caveolae are small domains on the inner cell membrane involved in vesicular trafficking and signal transduction. FLOT2 encodes a caveolae-associated, integral membrane protein. Flotillin 2 is though to function in neuronal signaling. | SP Function: may act as a scaffolding protein within caveolar membranes, functionally participating in formation of caveolae or caveolae-like vesicles. may be involved in epidermal cell adhesion and epidermal structure and function. | Gene Ontology:
biological process: biological process: cellular component: cellular component: cellular component: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H007271_01
Name: Sorbin and SH3 domain containing 1 |
Sum Func: | SP Function: | Gene Ontology:
cellular component: cellular component: biological process: biological process: molecular function: biological process: cellular component: cellular component: cellular component: molecular function: molecular function: cellular component: biological process: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H010532_01
Name: Tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide |
Sum Func: This gene product belongs to the 14-3-3 family of proteins which mediate signal transduction by binding to phosphoserine-containing proteins. This highly conserved protein family is found in both plants and mammals, and this protein is 100% identical to the mouse ortholog. It interacts with CDC25 phosphatases, RAF1 and IRS1 proteins, suggesting its role in diverse biochemical activities related to signal transduction, such as cell division and regulation of insulin sensitivity. It has also been implicated in the pathogenesis of small cell lung cancer. | SP Function: | Gene Ontology:
molecular function: |
BioCarta Pathways:
1: Lissencephaly gene (LIS1) in neuronal migration and development |
KEGG Pathways: |
| Unique id : H013009_01
Name: CAP, adenylate cyclase-associated protein 1 (yeast) |
Sum Func: The protein encoded by this gene is related to the S. cerevisiae CAP protein, which is involved in the cyclic AMP pathway. The human protein is able to interact with other molecules of the same protein, as well as with CAP2 and actin. | SP Function: | Gene Ontology:
biological process: biological process: cellular component: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002745_01
Name: Inositol polyphosphate phosphatase-like 1 |
Sum Func: INPPL1 encodes inositol polyphosphate-5 phosphatase-like 1, a protein that in addition to the phosphatase domain contains an SH2 (src-homology domain 2) motif. | SP Function: | Gene Ontology:
molecular function: biological process: biological process: |
BioCarta Pathways:
1: Skeletal muscle hypertrophy is regulated via AKT/mTOR pathway |
KEGG Pathways: |
| Unique id : H008369_01
Name: Par-6 partitioning defective 6 homolog alpha (C.elegans) |
Sum Func: | SP Function: | Gene Ontology:
molecular function: molecular function: biological process: biological process: biological process: biological process: cellular component: cellular component: cellular component: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H004961_01
Name: Flotillin 1 |
Sum Func: Caveolae are small domains on the inner cell membrane involved in vesicular trafficking and signal transduction. FLOT1 encodes a caveolae-associated, integral membrane protein. The function of flotillin 1 has not been determined. | SP Function: may act as a scaffolding protein within caveolar membranes, functionally participating in formation of caveolae or caveolae-like vesicles. | Gene Ontology:
cellular component: cellular component: cellular component: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H011166_01
Name: Tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, beta polypeptide |
Sum Func: This gene encodes a protein belonging to the 14-3-3 family of proteins, members of which mediate signal transduction by binding to phosphoserine-containing proteins. This highly conserved protein family is found in both plants and mammals. The encoded protein has been shown to interact with RAF1 and CDC25 phosphatases, suggesting that it may play a role in linking mitogenic signaling and the cell cycle machinery. Two transcript variants, which encode the same protein, have been identified for this gene. | SP Function: activates tyrosine and tryptophan hydroxylases in the presence of ca(2+)/calmodulin-dependent protein kinase ii, and strongly activates protein kinase c. is probably a multifunctional regulator of the cell signaling processes mediated by both kinases. | Gene Ontology:
molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H005657_01
Name: Calcium/calmodulin-dependent protein kinase (CaM kinase) II gamma |
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 gamma chain. Six alternatively spliced variants that encode six different isoforms have been characterized to date. Additional alternative splice variants that encode different isoforms have been described, but their full-length nature has not been determined. | 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: molecular function: molecular function: cellular component: biological process: molecular function: biological process: biological process: molecular function: molecular function: biological process: molecular function: |
BioCarta Pathways:
1: Ca++/ Calmodulin-dependent Protein Kinase Activation 2: Bioactive Peptide Induced Signaling Pathway 3: Transcription factor CREB and its extracellular signals 4: Regulation of PGC-1a 5: Stathmin and breast cancer resistance to antimicrotubule agents |
KEGG Pathways: |
| Unique id : H008870_01
Name: Sterile alpha motif and leucine zipper containing kinase AZK |
Sum Func: | SP Function: | Gene Ontology:
molecular function: biological process: biological process: molecular function: molecular function: biological process: biological process: biological process: biological process: biological process: biological process: biological process: biological process: cellular component: biological process: molecular function: molecular function: biological process: biological process: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002633_01
Name: FK506 binding protein 12-rapamycin associated protein 1 |
Sum Func: The protein encoded by this gene belongs to a family of phosphatidylinositol kinase-related kinases. These kinases mediate cellular responses to stresses such as DNA damage and nutrient deprivation. This protein acts as the target for the cell-cycle arrest and immunosuppressive effects of the FKBP12-rapamycin complex. The CDT6 gene is located in an intron of this gene. | SP Function: acts as the target for the cell-cycle arrest and immunosuppressive effects of the fkbp12-rapamycin complex. | Gene Ontology:
biological process: biological process: molecular function: cellular component: biological process: molecular function: |
BioCarta Pathways:
1: B Cell Survival Pathway 2: CTCF: First Multivalent Nuclear Factor 3: Regulation of eIF4e and p70 S6 Kinase 4: Skeletal muscle hypertrophy is regulated via AKT/mTOR pathway 5: mTOR Signaling Pathway 6: Stat3 Signaling Pathway |
KEGG Pathways: |
| Unique id : H005703_01
Name: Eukaryotic translation initiation factor 4 gamma, 3 |
Sum Func: | SP Function: | Gene Ontology:
molecular function: cellular component: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H012604_01
Name: Eukaryotic translation initiation factor 4A, isoform 1 |
Sum Func: | SP Function: | Gene Ontology:
molecular function: molecular function: molecular function: molecular function: molecular function: molecular function: biological process: molecular function: |
BioCarta Pathways:
1: Regulation of eIF4e and p70 S6 Kinase 2: Internal Ribosome entry pathway 3: mTOR Signaling Pathway |
KEGG Pathways: |
| Unique id : H013804_01
Name: Eukaryotic translation initiation factor 4A, isoform 1 |
Sum Func: | SP Function: | Gene Ontology:
molecular function: molecular function: molecular function: molecular function: molecular function: molecular function: biological process: molecular function: |
BioCarta Pathways:
1: Regulation of eIF4e and p70 S6 Kinase 2: Internal Ribosome entry pathway 3: mTOR Signaling Pathway |
KEGG Pathways: |
| Unique id : H007640_01
Name: Eukaryotic translation initiation factor 4A, isoform 2 |
Sum Func: | SP Function: eif4a is both a subunit of a high molecular weight protein complex involved in cap recognition and is required as a single polypeptide chain for mrna binding to ribosome. it is an atp-dependent single stranded dna-binding protein with a sequence- independent unwinding activity (helicase). | Gene Ontology:
molecular function: molecular function: molecular function: molecular function: cellular component: molecular function: molecular function: biological process: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003743_01
Name: Eukaryotic translation initiation factor 4 gamma, 2 |
Sum Func: Translation initiation is mediated by specific recognition of the cap structure by eukaryotic translation initiation factor 4F (eIF4F), which is a cap binding protein complex that consists of three subunits: eIF4A, eIF4E and eIF4G. The protein encoded by this gene shares similarity with the C-terminal region of eIF4G, that contains the binding sites for eIF4A and eIF3; eIF4G in addition, contains a binding site for eIF4E at the N-terminus. Unlike eIF4G which supports cap-dependent and independent translation, this gene product functions as a general repressor of translation by forming translationally inactive complexes. In vitro and in vivo studies indicate that translation of this mRNA initiates exclusively at a non-AUG (GUG) codon. | SP Function: | Gene Ontology:
molecular function: biological process: biological process: cellular component: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H007698_01
Name: Eukaryotic translation initiation factor 4E binding protein 1 |
Sum Func: | SP Function: | Gene Ontology:
molecular function: biological process: biological process: biological process: |
BioCarta Pathways:
1: Regulation of eIF4e and p70 S6 Kinase 2: Skeletal muscle hypertrophy is regulated via AKT/mTOR pathway 3: mTOR Signaling Pathway |
KEGG Pathways: |
| Unique id : H010093_01
Name: Eukaryotic translation initiation factor 3, subunit 10 theta, 150/170kDa |
Sum Func: | SP Function: binds to the 40s ribosome and promotes the binding of methionyl-tRNAi and mrna. | Gene Ontology:
cellular component: biological process: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003183_01
Name: Cyclin-dependent kinase 8 |
Sum Func: The protein encoded by this gene is a member of the cyclin-dependent protein kinase (CDK) family. CDK family members are highly similar to the gene products of Saccharomyces cerevisiae cdc28, and Schizosaccharomyces pombe cdc2, and are known to be important regulators of cell cycle progression. This kinase and its regulatory subunit cyclin C are components of the RNA polymerase II holoenzyme complex, which phosphorylates the carboxy-terminal domain (CTD) of the largest subunit of RNA polymerase II. This kinase has also been shown to regulate transcription by targeting the CDK7/cyclin H subunits of the general transcription initiation factor IIH (TFIIH), thus providing a link between the ‘Mediator-like’ protein complexes and the basal transcription machinery. | SP Function: probably involved in the control of the cell cycle. may play a role in transcriptional regulation. binds to and is activated by cyclin c. phosphorylates the ctd (carboxy-terminal domain) of the large subunit of rna polymerase ii (rnap ii). | Gene Ontology:
molecular function: biological process: biological process: molecular function: biological process: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways:
1: Cell cycle 4: Gap junction |
| Unique id : H002675_01
Name: Patched homolog (Drosophila) |
Sum Func: This gene encodes a member of the patched gene family. The encoded protein is the receptor for sonic hedgehog, a secreted molecule implicated in the formation of embryonic structures and in tumorigenesis. This gene functions as a tumor suppressor. Mutations of this gene have been associated with nevoid basal cell carcinoma syndrome, esophageal squamous cell carcinoma, trichoepitheliomas, transitional cell carcinomas of the bladder, as well as holoprosencephaly. Alternative spliced variants have been described, but their full length sequences have not be determined. | SP Function: acts as a receptor for sonic hedgehog (shh), Indian hedgehog (ihh) and desert hedgehog (dhh). associates with the smoothened protein (smo) to transduce the hedgehog’s proteins signal. seems to have a tumor suppressor function, as inactivation of this protein is probably a necessary, if not sufficient step for tumorigenesis. | Gene Ontology:
biological process: molecular function: cellular component: biological process: biological process: molecular function: biological process: |
BioCarta Pathways:
1: Sonic Hedgehog (SHH) Receptor Ptc1 Regulates cell cycle 2: Sonic Hedgehog (Shh) Pathway |
KEGG Pathways: |
| Unique id : H000557_01
Name: Exportin 1 (CRM1 homolog, yeast) |
Sum Func: The protein encoded by this gene mediates leucine-rich nuclear export signal (NES)-dependent protein transport. Exportin 1 specifically inhibits the nuclear export of Rev and U snRNAs. It is involved in the control of several cellular processes by controlling the localization of cyclin B, MPAK, and MAPKAP kinase 2. This protein also regulates NFAT and AP-1. | SP Function: | Gene Ontology:
cellular component: cellular component: cellular component: molecular function: biological process: |
BioCarta Pathways:
1: Regulation of Spermatogenesis by CREM 2: Sonic Hedgehog (SHH) Receptor Ptc1 Regulates cell cycle |
KEGG Pathways: |
| Unique id : H002165_01
Name: Dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 2 |
Sum Func: DYRK2 belongs to a family of protein kinases whose members are presumed to be involved in cellular growth and/or development. The family is defined by structural similarity of their kinase domains and their capability to autophosphorylate on tyrosine residues. DYRK2 has demonstrated tyrosine autophosphorylation and catalyzed phosphorylation of histones H3 and H2B in vitro. Two isoforms of DYRK2 have been isolated. The predominant isoform, isoform 1, lacks a 5′ terminal insert. | SP Function: in vitro; can phosphorylate exogenous substrates on ser and thr residues. may be involved in the regulation of cellular growth and/or development. | Gene Ontology:
molecular function: cellular component: molecular function: molecular function: biological process: biological process: molecular function: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways:
1: Cell cycle |
| Unique id : H006274_01
Name: Hypothetical protein LOC145899 |
Sum Func: The protein encoded by this gene is a guanine nucleotide exchange factor (GEF) similar to the Saccharomyces cerevisiae CDC25 gene product. Functional analysis has demonstrated that this protein stimulates the dissociation of GDP from RAS protein. The studies of the similar gene in mouse suggested that the Ras-GEF activity of this protein in brain can be activated by Ca2+ influx, muscarinic receptors, and G protein beta-gamma subunit. Mouse studies also indicated that the Ras-GEF signaling pathway mediated by this protein may be important for long-term memory. Two alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported. | SP Function: promotes the exchange of ras-bound gdp by gtp. | Gene Ontology:
molecular function: molecular function: biological process: cellular component: biological process: cellular component: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H000610_01
Name: GLI pathogenesis-related 1 (glioma) |
Sum Func: | SP Function: | Gene Ontology:
cellular component: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H007842_01
Name: Gastrin |
Sum Func: Gastrin is hormone whose main function is to stimulate secretion of HCL by the gastric mucosa which results in gastrin formation inhibition. GAS also acts as a mitogenic factor for gastrointestinal epithelial cells. Gastrin has two biologically active peptide forms, G34 and G17. | SP Function: gastrin stimulates the stomach mucosa to produce and secrete hydrochloric acid and the pancreas to secrete its digestive enzymes. it also stimulates smooth muscle contraction and increases blood circulation and water secretion in the stomach and intestine. | Gene Ontology:
cellular component: molecular function: biological process: biological process: cellular component: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H001590_01
Name: Early endosome antigen 1, 162kD |
Sum Func: | SP Function: | Gene Ontology:
molecular function: molecular function: cellular component: cellular component: biological process: cellular component: molecular function: cellular component: molecular function: molecular function: biological process: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H001586_01
Name: ADP-ribosylation factor 1 |
Sum Func: ADP-ribosylation factor 1 (ARF1) 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) and members of each class share a common gene organization. The ARF1 gene spans approximately 16.5 kb and contains five exons and four introns. The ARF1 protein is localized to the Golgi apparatus and has a central role in intra-Golgi transport. | SP Function: | Gene Ontology:
molecular function: molecular function: cellular component: biological process: cellular component: molecular function: biological process: |
BioCarta Pathways:
1: ADP-Ribosylation Factor 2: Phosphoinositides and their downstream targets. |
KEGG Pathways: |
| Unique id : H007864_01
Name: Solute carrier family 27 (fatty acid transporter), member 4 |
Sum Func: | SP Function: | Gene Ontology:
molecular function: biological process: molecular function: biological process: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H001682_01
Name: Related RAS viral (r-ras) oncogene homolog 2 |
Sum Func: | SP Function: | Gene Ontology:
molecular function: biological process: biological process: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H005943_01
Name: Docking protein 1, 62kDa (downstream of tyrosine kinase 1) |
Sum Func: Docking protein 1 is constitutively tyrosine phosphorylated in hematopoietic progenitors isolated from chronic myelogenous leukemia (CML) patients in the chronic phase. It may be a critical substrate for p210(bcr/abl), a chimeric protein whose presence is associated with CML. Docking protein 1 contains a putative pleckstrin homology domain at the amino terminus and ten PXXP SH3 recognition motifs. Docking protein 2 binds p120 (RasGAP) from CML cells. It has been postulated to play a role in mitogenic signaling. | SP Function: docking proteins interact with receptor tyrosine kinases and mediate particular biological responses. | Gene Ontology:
biological process: molecular function: molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003783_01
Name: Sterol regulatory element binding transcription factor 1 |
Sum Func: This gene encodes a transcription factor that binds to the sterol regulatory element-1 (SRE1), which is a decamer flanking the low density lipoprotein receptor gene and some genes involved in sterol biosynthesis. The protein is synthesized as a precursor that is attached to the nuclear membrane and endoplasmic reticulum. Following cleavage, the mature protein translocates to the nucleus and activates transcription by binding to the SRE1. Sterols inhibit the cleavage of the precursor, and the mature nuclear form is rapidly catabolized, thereby reducing transcription. The protein is a member of the basic helix-loop-helix-leucine zipper (bHLH-Zip) transcription factor family. This gene is located within the Smith-Magenis syndrome region on chromosome 17. Two transcript variants encoding different isoforms have been found for this gene. | SP Function: transcriptional activator that binds to the sterol regulatory element 1 (sre-1) (5′-atcaccccac-3′). has dual sequence specificity, binding to both an e-box motif (5′-atcacgtga-3′) and to sre-1 (5′-atcaccccac-3′). regulates the transcription of genes for sterol biosynthesis and the ldl receptor gene. | Gene Ontology:
cellular component: molecular function: biological process: cellular component: cellular component: biological process: cellular component: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H000420_01
Name: Eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa |
Sum Func: | SP Function: catalyzes the exchange of eukaryotic initiation factor 2-bound gdp for gtp. | Gene Ontology:
molecular function: cellular component: molecular function: biological process: molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H006615_01
Name: Acetyl-Coenzyme A carboxylase beta |
Sum Func: Acetyl-CoA carboxylase (ACC) is a complex multifunctional enzyme system. ACC is a biotin-containing enzyme which catalyzes the carboxylation of acetyl-CoA to malonyl-CoA, the rate-limiting step in fatty acid synthesis. ACC-beta is thought to control fatty acid oxidation by means of the ability of malonyl-CoA to inhibit carnitine-palmitoyl-CoA transferase I, the rate-limiting step in fatty acid uptake and oxidation by mitochondria. ACC-beta may be involved in the regulation of fatty acid oxidation, rather than fatty acid biosynthesis. There is evidence for the presence of two ACC-beta isoforms. | SP Function: acc-beta may be involved in the provision of malonyl-coa or in the regulation of fatty acid oxidation, rather than fatty acid biosynthesis. this protein carries three functions: biotin carboxyl carrier protein, biotin carboxylase, and carboxyltransferase. | Gene Ontology:
molecular function: molecular function: molecular function: molecular function: cellular component: biological process: molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002652_01
Name: Uncoupling protein 2 (mitochondrial, proton carrier) |
Sum Func: Mitochondrial uncoupling proteins (UCP) are members of the larger family of mitochondrial anion carrier proteins (MACP). UCPs separate oxidative phosphorylation from ATP synthesis with energy dissipated as heat, also referred to as the mitochondrial proton leak. UCPs facilitate the transfer of anions from the inner to the outer mitochondrial membrane and the return transfer of protons from the outer to the inner mitochondrial membrane. They also reduce the mitochondrial membrane potential in mammalian cells. Tissue specificity occurs for the different UCPs and the exact methods of how UCPs transfer H+/OH- are not known. UCPs contain the three homologous protein domains of MACPs. This gene is expressed in many tissues, with the greatest expression in skeletal muscle. It is thought to play a role in nonshivering thermogenesis, obesity and diabetes. Chromosomal order is 5′-UCP3-UCP2-3′. | SP Function: ucp are mitochondrial transporter proteins that create proton leaks across the inner mitochondrial membrane, thus uncoupling oxidative phosphorylation from atp synthesis. as a result, energy is dissipated in the form of heat. | Gene Ontology:
molecular function: cellular component: cellular component: cellular component: biological process: cellular component: biological process: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002509_01
Name: D component of complement (adipsin) |
Sum Func: The protein encoded by this gene is a member of the trypsin family of peptidases. The encoded protein is a component of the alternative complement pathway best known for its role in humoral suppression of infectious agents. This protein is also a serine protease that is secreted by adipocytes into the bloodstream. Finally, the encoded protein has a high level of expression in fat, suggesting a role for adipose tissue in immune system biology. | SP Function: factor d cleaves factor b when the latter is complexed with factor c3b, activating the c3bbb complex, which then becomes the c3 convertase of the alternate pathway. its function is homologous to that of c1s in the classical pathway. | Gene Ontology:
molecular function: biological process: molecular function: molecular function: molecular function: molecular function: biological process: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002085_01
Name: Orosomucoid 1 |
Sum Func: This gene encodes a key acute phase plasma protein. Because of its increase due to acute inflammation, this protein is classified as an acute-phase reactant. The specific function of this protein has not yet been determined; however, it may be involved in aspects of immunosuppression. | SP Function: appears to function in modulating the activity of the immune system during the acute-phase reaction. | Gene Ontology:
biological process: cellular component: biological process: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002039_01
Name: Phosphoenolpyruvate carboxykinase 2 (mitochondrial) |
Sum Func: Phosphoenolpyruvate carboxykinase (PCK; EC 4.1.1.32) is a key enzyme in gluconeogenesis. The activity is about equally distributed between cytosol and mitochondria in human liver. In contrast, PCK is essentially a cytosolic enzyme in rat liver. See also PCK1 (MIM 261680), the human cytosolic PCK enzyme.[supplied by OMIM] | SP Function: | Gene Ontology:
molecular function: biological process: molecular function: molecular function: cellular component: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H001045_01
Name: Thyroglobulin |
Sum Func: | SP Function: precursor of the iodinated thyroid hormones thyroxine (t4) and triiodothyronine (t3). | Gene Ontology:
cellular component: molecular function: biological process: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H001649_01
Name: Microtubule-associated protein tau |
Sum Func: This gene encodes the microtubule-associated protein tau (MAPT) whose transcript undergoes complex, regulated alternative splicing, giving rise to several mRNA species. MAPT transcripts are differentially expressed in the nervous system, depending on stage of neuronal maturation and neuron type. MAPT gene mutations result in several neurodegenerative disorders such as Alzheimer’s disease, Pick’s disease, frontotemporal dementia, cortico-basal degeneration and progressive supranuclear palsy. | SP Function: promotes microtubule assembly and stability, and might be involved in the establishment and maintenance of neuronal polarity. the c-terminus binds axonal microtubules while the n- terminus binds neural plasma membrane components, suggesting that tau functions as a linker protein between both. axonal polarity is predetermined by tau localization (in the neuronal cell) in the domain of the cell body defined by the centrosome. the short isoforms allow plasticity of the cytoskeleton whereas the longer isoforms may preferentially play a role in its stabilization. | Gene Ontology:
biological process: cellular component: cellular component: cellular component: cellular component: biological process: biological process: cellular component: molecular function: |
BioCarta Pathways:
1: Bioactive Peptide Induced Signaling Pathway 2: Deregulation of CDK5 in Alzheimer’s Disease |
KEGG Pathways: |
| Unique id : H000614_01
Name: Guanine nucleotide binding protein (G protein), alpha 11 (Gq class) |
Sum Func: | SP Function: guanine nucleotide-binding proteins (g proteins) are involved as modulators or transducers in various transmembrane signaling systems. acts as an activator of phospholipase c. | Gene Ontology:
biological process: molecular function: molecular function: cellular component: cellular component: biological process: molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002329_01
Name: Cyclin-dependent kinase 5 |
Sum Func: | SP Function: probably involved in the control of the cell cycle. interacts with d1 and d3-type g1 cyclins. can phosphorylate histone h1, tau, map2 and nf-h and nf-m. also interacts with p35 which activates the kinase. | Gene Ontology:
molecular function: biological process: molecular function: biological process: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H011599_01
Name: Guanine nucleotide binding protein (G protein), alpha 11 (Gq class) |
Sum Func: | SP Function: guanine nucleotide-binding proteins (g proteins) are involved as modulators or transducers in various transmembrane signaling systems. acts as an activator of phospholipase c. | Gene Ontology:
biological process: molecular function: molecular function: cellular component: cellular component: biological process: molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H000460_01
Name: Guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 1 |
Sum Func: | SP Function: | Gene Ontology:
molecular function: molecular function: biological process: |
BioCarta Pathways:
1: Thrombin signaling and protease-activated receptors 2: Bioactive Peptide Induced Signaling Pathway 3: CXCR4 Signaling Pathway 4: Phospholipids as signaling intermediaries 5: Signaling Pathway from G-Protein Families 6: Inactivation of Gsk3 by AKT causes accumulation of b-catenin in Alveolar Macrophages 7: How Progesterone Initiates the Oocyte Maturation 8: Aspirin Blocks Signaling Pathway Involved in Platelet Activation |
KEGG Pathways: |
| Unique id : H001360_01
Name: Rho-associated, coiled-coil containing protein kinase 2 |
Sum Func: The protein encoded by this gene is a serine/threonine kinase that regulates cytokinesis, smooth muscle contraction, the formation of actin stress fibers and focal adhesions, and the activation of the c-fos serum response element. This protein, which is an isozyme of ROCK1 is a target for the small GTPase Rho. | SP Function: | Gene Ontology:
molecular function: cellular component: biological process: molecular function: cellular component: biological process: biological process: biological process: molecular function: molecular function: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002188_01
Name: Lipoprotein, Lp(a) |
Sum Func: | SP Function: apo(a) is the main constituent of lipoprotein(a) (lp(a)). it has serine proteinase activity and is able of autoproteolysis. inhibits tissue-type plasminogen activator 1. lp(a) may be a ligand for megalin/gp 330. | Gene Ontology:
molecular function: biological process: molecular function: cellular component: molecular function: biological process: biological process: molecular function: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003747_01
Name: Serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4 |
Sum Func: | SP Function: inhibits human amidolytic and kininogenase activities of human tissue kallikrein. inhibition is achieved by formation of an equimolar, heat- and sds-stable complex between the inhibitor and the enzyme, and generation of a small c-terminal fragment of the inhibitor due to cleavage at the reactive site by tissue kallikrein. | Gene Ontology:
biological process: molecular function: molecular function: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |