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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
20
Cytoband
q12
Chromosome location (bp)
41136960 - 41196801
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Mediates the production of the second messenger molecules diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3). Plays an important role in the regulation of intracellular signaling cascades. Becomes activated in response to ligand-mediated activation of receptor-type tyrosine kinases, such as PDGFRA, PDGFRB, EGFR, FGFR1, FGFR2, FGFR3 and FGFR4 (By similarity). Plays a role in actin reorganization and cell migration 1. Guanine nucleotide exchange factor that binds the GTPase DNM1 and catalyzes the dissociation of GDP, allowing a GTP molecule to bind in its place, therefore enhancing DNM1-dependent endocytosis (By similarity)....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Hydrolase, Transducer
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.
Calcium, Metal-binding
Gene summary (Entrez)i
Useful information about the gene from Entrez
The protein encoded by this gene catalyzes the formation of inositol 1,4,5-trisphosphate and diacylglycerol from phosphatidylinositol 4,5-bisphosphate. This reaction uses calcium as a cofactor and plays an important role in the intracellular transduction of receptor-mediated tyrosine kinase activators. For example, when activated by SRC, the encoded protein causes the Ras guanine nucleotide exchange factor RasGRP1 to translocate to the Golgi, where it activates Ras. Also, this protein has been shown to be a major substrate for heparin-binding growth factor 1 (acidic fibroblast growth factor)-activated tyrosine kinase. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Enzymes ENZYME proteins Hydrolases Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins RAS pathway related proteins Cancer-related genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Missense Mutations Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
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GO:0001726[ruffle] GO:0002862[negative regulation of inflammatory response to antigenic stimulus] GO:0004435[phosphatidylinositol phospholipase C activity] GO:0004629[phospholipase C activity] GO:0005168[neurotrophin TRKA receptor binding] GO:0005509[calcium ion binding] GO:0005515[protein binding] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0005886[plasma membrane] GO:0006629[lipid metabolic process] GO:0007165[signal transduction] GO:0007173[epidermal growth factor receptor signaling pathway] GO:0008081[phosphoric diester hydrolase activity] GO:0008180[COP9 signalosome] GO:0009395[phospholipid catabolic process] GO:0010634[positive regulation of epithelial cell migration] GO:0016042[lipid catabolic process] GO:0016477[cell migration] GO:0016787[hydrolase activity] GO:0019722[calcium-mediated signaling] GO:0019901[protein kinase binding] GO:0030027[lamellipodium] GO:0032587[ruffle membrane] GO:0035556[intracellular signal transduction] GO:0038095[Fc-epsilon receptor signaling pathway] GO:0042995[cell projection] GO:0043536[positive regulation of blood vessel endothelial cell migration] GO:0045766[positive regulation of angiogenesis] GO:0046488[phosphatidylinositol metabolic process] GO:0046872[metal ion binding] GO:0050429[calcium-dependent phospholipase C activity] GO:0050852[T cell receptor signaling pathway] GO:0050896[response to stimulus] GO:0051281[positive regulation of release of sequestered calcium ion into cytosol] GO:0071364[cellular response to epidermal growth factor stimulus] GO:1905564[positive regulation of vascular endothelial cell proliferation] GO:2000353[positive regulation of endothelial cell apoptotic process]
Enzymes ENZYME proteins Hydrolases Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins RAS pathway related proteins Cancer-related genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Missense Mutations Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0001726[ruffle] GO:0002862[negative regulation of inflammatory response to antigenic stimulus] GO:0004435[phosphatidylinositol phospholipase C activity] GO:0004629[phospholipase C activity] GO:0005168[neurotrophin TRKA receptor binding] GO:0005509[calcium ion binding] GO:0005515[protein binding] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0005886[plasma membrane] GO:0006629[lipid metabolic process] GO:0007165[signal transduction] GO:0007173[epidermal growth factor receptor signaling pathway] GO:0008081[phosphoric diester hydrolase activity] GO:0008180[COP9 signalosome] GO:0009395[phospholipid catabolic process] GO:0010634[positive regulation of epithelial cell migration] GO:0016042[lipid catabolic process] GO:0016477[cell migration] GO:0016787[hydrolase activity] GO:0019722[calcium-mediated signaling] GO:0019901[protein kinase binding] GO:0030027[lamellipodium] GO:0032587[ruffle membrane] GO:0035556[intracellular signal transduction] GO:0038095[Fc-epsilon receptor signaling pathway] GO:0042995[cell projection] GO:0043536[positive regulation of blood vessel endothelial cell migration] GO:0045766[positive regulation of angiogenesis] GO:0046488[phosphatidylinositol metabolic process] GO:0046872[metal ion binding] GO:0050429[calcium-dependent phospholipase C activity] GO:0050852[T cell receptor signaling pathway] GO:0050896[response to stimulus] GO:0051281[positive regulation of release of sequestered calcium ion into cytosol] GO:0071364[cellular response to epidermal growth factor stimulus] GO:1905564[positive regulation of vascular endothelial cell proliferation] GO:2000353[positive regulation of endothelial cell apoptotic process]
Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC RAS pathway related proteins Cancer-related genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Missense Mutations Protein evidence (Ezkurdia et al 2014)
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GO:0004435[phosphatidylinositol phospholipase C activity] GO:0005515[protein binding] GO:0007165[signal transduction] GO:0035556[intracellular signal transduction]
Enzymes ENZYME proteins Hydrolases Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins RAS pathway related proteins Cancer-related genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Missense Mutations Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0001701[in utero embryonic development] GO:0001726[ruffle] GO:0002862[negative regulation of inflammatory response to antigenic stimulus] GO:0004435[phosphatidylinositol phospholipase C activity] GO:0004629[phospholipase C activity] GO:0005168[neurotrophin TRKA receptor binding] GO:0005509[calcium ion binding] GO:0005515[protein binding] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0005886[plasma membrane] GO:0005911[cell-cell junction] GO:0006629[lipid metabolic process] GO:0007165[signal transduction] GO:0007173[epidermal growth factor receptor signaling pathway] GO:0008081[phosphoric diester hydrolase activity] GO:0008180[COP9 signalosome] GO:0009395[phospholipid catabolic process] GO:0010634[positive regulation of epithelial cell migration] GO:0016042[lipid catabolic process] GO:0016477[cell migration] GO:0016787[hydrolase activity] GO:0019722[calcium-mediated signaling] GO:0019901[protein kinase binding] GO:0030027[lamellipodium] GO:0030971[receptor tyrosine kinase binding] GO:0032587[ruffle membrane] GO:0035254[glutamate receptor binding] GO:0035556[intracellular signal transduction] GO:0038095[Fc-epsilon receptor signaling pathway] GO:0042995[cell projection] GO:0043536[positive regulation of blood vessel endothelial cell migration] GO:0045766[positive regulation of angiogenesis] GO:0046488[phosphatidylinositol metabolic process] GO:0046872[metal ion binding] GO:0050429[calcium-dependent phospholipase C activity] GO:0050804[modulation of chemical synaptic transmission] GO:0050852[T cell receptor signaling pathway] GO:0050896[response to stimulus] GO:0051281[positive regulation of release of sequestered calcium ion into cytosol] GO:0071364[cellular response to epidermal growth factor stimulus] GO:0098685[Schaffer collateral - CA1 synapse] GO:0098978[glutamatergic synapse] GO:1905564[positive regulation of vascular endothelial cell proliferation] GO:2000353[positive regulation of endothelial cell apoptotic process]
The Human Protein Atlas project is funded
