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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.
Assigned HPA protein class(es) for the encoded protein(s).
Disease related genes Plasma proteins
Predicted locationi
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
17
Cytoband
q23.2
Chromosome location (bp)
60677453 - 61392838
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Plays a role in angiogenesis. Participates in the regulation of cell polarity and directional endothelial cell migration by mediating both the activation and recruitment of CDC42 and the reorganization of the actin cytoskeleton at the cell leading edge. Promotes filipodia formation (By similarity). Functions synergistically with PELP1 as a transcriptional coactivator of estrogen receptor-responsive genes. Stimulates histone acetyltransferase activity. Binds to chromatin. Plays a regulatory role in autophagic activity. In complex with PHAF1, associates with the preautophagosomal structure during both non-selective and selective autophagy 1. Probably binds phosphatidylinositol 3-phosphate (PtdIns3P) which would mediate the recruitment preautophagosomal structures 2....show less
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Enables several functions, including acetyltransferase activator activity; beta-tubulin binding activity; and histone acetyltransferase binding activity. Involved in cellular response to estrogen stimulus; positive regulation of catalytic activity; and positive regulation of transcription by RNA polymerase II. Located in nucleus; phagophore assembly site; and transcriptionally active chromatin. Biomarker of breast cancer. [provided by Alliance of Genome Resources, Apr 2022]...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.
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Disease related genes 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:0000407[phagophore assembly site] GO:0000791[euchromatin] GO:0001525[angiogenesis] GO:0003682[chromatin binding] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005737[cytoplasm] GO:0005856[cytoskeleton] GO:0005881[cytoplasmic microtubule] GO:0006914[autophagy] GO:0007030[Golgi organization] GO:0010595[positive regulation of endothelial cell migration] GO:0010698[acetyltransferase activator activity] GO:0016922[nuclear receptor binding] GO:0031023[microtubule organizing center organization] GO:0031252[cell leading edge] GO:0034260[negative regulation of GTPase activity] GO:0035035[histone acetyltransferase binding] GO:0035091[phosphatidylinositol binding] GO:0035148[tube formation] GO:0042393[histone binding] GO:0042594[response to starvation] GO:0043085[positive regulation of catalytic activity] GO:0043547[positive regulation of GTPase activity] GO:0043627[response to estrogen] GO:0045111[intermediate filament cytoskeleton] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0048487[beta-tubulin binding] GO:0051491[positive regulation of filopodium assembly] GO:0051895[negative regulation of focal adhesion assembly] GO:0071391[cellular response to estrogen stimulus] GO:0090316[positive regulation of intracellular protein transport] GO:0090630[activation of GTPase activity] GO:2000114[regulation of establishment of cell polarity] GO:2000251[positive regulation of actin cytoskeleton reorganization]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Disease related genes 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:0000407[phagophore assembly site] GO:0000791[euchromatin] GO:0001525[angiogenesis] GO:0003682[chromatin binding] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005737[cytoplasm] GO:0005856[cytoskeleton] GO:0005881[cytoplasmic microtubule] GO:0006914[autophagy] GO:0007030[Golgi organization] GO:0010595[positive regulation of endothelial cell migration] GO:0010698[acetyltransferase activator activity] GO:0016922[nuclear receptor binding] GO:0031023[microtubule organizing center organization] GO:0031252[cell leading edge] GO:0034260[negative regulation of GTPase activity] GO:0035035[histone acetyltransferase binding] GO:0035091[phosphatidylinositol binding] GO:0035148[tube formation] GO:0042393[histone binding] GO:0042594[response to starvation] GO:0043085[positive regulation of catalytic activity] GO:0043547[positive regulation of GTPase activity] GO:0043627[response to estrogen] GO:0045111[intermediate filament cytoskeleton] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0048487[beta-tubulin binding] GO:0051491[positive regulation of filopodium assembly] GO:0051895[negative regulation of focal adhesion assembly] GO:0071391[cellular response to estrogen stimulus] GO:0090316[positive regulation of intracellular protein transport] GO:0090630[activation of GTPase activity] GO:2000114[regulation of establishment of cell polarity] GO:2000251[positive regulation of actin cytoskeleton reorganization]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Disease related genes Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000407[phagophore assembly site] GO:0000791[euchromatin] GO:0001525[angiogenesis] GO:0003682[chromatin binding] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005737[cytoplasm] GO:0005856[cytoskeleton] GO:0005881[cytoplasmic microtubule] GO:0006914[autophagy] GO:0007030[Golgi organization] GO:0010595[positive regulation of endothelial cell migration] GO:0010698[acetyltransferase activator activity] GO:0016922[nuclear receptor binding] GO:0031023[microtubule organizing center organization] GO:0031252[cell leading edge] GO:0034260[negative regulation of GTPase activity] GO:0035035[histone acetyltransferase binding] GO:0035091[phosphatidylinositol binding] GO:0035148[tube formation] GO:0042393[histone binding] GO:0042594[response to starvation] GO:0043085[positive regulation of catalytic activity] GO:0043547[positive regulation of GTPase activity] GO:0043627[response to estrogen] GO:0045111[intermediate filament cytoskeleton] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0048487[beta-tubulin binding] GO:0051491[positive regulation of filopodium assembly] GO:0051895[negative regulation of focal adhesion assembly] GO:0071391[cellular response to estrogen stimulus] GO:0090316[positive regulation of intracellular protein transport] GO:0090630[activation of GTPase activity] GO:2000114[regulation of establishment of cell polarity] GO:2000251[positive regulation of actin cytoskeleton reorganization]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Disease related genes Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000407[phagophore assembly site] GO:0000791[euchromatin] GO:0001525[angiogenesis] GO:0003682[chromatin binding] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005737[cytoplasm] GO:0005856[cytoskeleton] GO:0005881[cytoplasmic microtubule] GO:0006914[autophagy] GO:0007030[Golgi organization] GO:0010595[positive regulation of endothelial cell migration] GO:0010698[acetyltransferase activator activity] GO:0016922[nuclear receptor binding] GO:0031023[microtubule organizing center organization] GO:0031252[cell leading edge] GO:0034260[negative regulation of GTPase activity] GO:0035035[histone acetyltransferase binding] GO:0035091[phosphatidylinositol binding] GO:0035148[tube formation] GO:0042393[histone binding] GO:0042594[response to starvation] GO:0043085[positive regulation of catalytic activity] GO:0043547[positive regulation of GTPase activity] GO:0043627[response to estrogen] GO:0045111[intermediate filament cytoskeleton] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0048487[beta-tubulin binding] GO:0051491[positive regulation of filopodium assembly] GO:0051895[negative regulation of focal adhesion assembly] GO:0071391[cellular response to estrogen stimulus] GO:0090316[positive regulation of intracellular protein transport] GO:0090630[activation of GTPase activity] GO:2000114[regulation of establishment of cell polarity] GO:2000251[positive regulation of actin cytoskeleton reorganization]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Disease related genes Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000407[phagophore assembly site] GO:0000791[euchromatin] GO:0001525[angiogenesis] GO:0003682[chromatin binding] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005737[cytoplasm] GO:0005856[cytoskeleton] GO:0005881[cytoplasmic microtubule] GO:0006914[autophagy] GO:0007030[Golgi organization] GO:0010595[positive regulation of endothelial cell migration] GO:0010698[acetyltransferase activator activity] GO:0016922[nuclear receptor binding] GO:0031023[microtubule organizing center organization] GO:0031252[cell leading edge] GO:0034260[negative regulation of GTPase activity] GO:0035035[histone acetyltransferase binding] GO:0035091[phosphatidylinositol binding] GO:0035148[tube formation] GO:0042393[histone binding] GO:0042594[response to starvation] GO:0043085[positive regulation of catalytic activity] GO:0043547[positive regulation of GTPase activity] GO:0043627[response to estrogen] GO:0045111[intermediate filament cytoskeleton] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0048487[beta-tubulin binding] GO:0051491[positive regulation of filopodium assembly] GO:0051895[negative regulation of focal adhesion assembly] GO:0071391[cellular response to estrogen stimulus] GO:0090316[positive regulation of intracellular protein transport] GO:0090630[activation of GTPase activity] GO:2000114[regulation of establishment of cell polarity] GO:2000251[positive regulation of actin cytoskeleton reorganization]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Disease related genes Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000407[phagophore assembly site] GO:0000791[euchromatin] GO:0001525[angiogenesis] GO:0003682[chromatin binding] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005737[cytoplasm] GO:0005856[cytoskeleton] GO:0005881[cytoplasmic microtubule] GO:0006914[autophagy] GO:0007030[Golgi organization] GO:0010595[positive regulation of endothelial cell migration] GO:0010698[acetyltransferase activator activity] GO:0016922[nuclear receptor binding] GO:0031023[microtubule organizing center organization] GO:0031252[cell leading edge] GO:0034260[negative regulation of GTPase activity] GO:0035035[histone acetyltransferase binding] GO:0035091[phosphatidylinositol binding] GO:0035148[tube formation] GO:0042393[histone binding] GO:0042594[response to starvation] GO:0043085[positive regulation of catalytic activity] GO:0043547[positive regulation of GTPase activity] GO:0043627[response to estrogen] GO:0045111[intermediate filament cytoskeleton] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0048487[beta-tubulin binding] GO:0051491[positive regulation of filopodium assembly] GO:0051895[negative regulation of focal adhesion assembly] GO:0071391[cellular response to estrogen stimulus] GO:0090316[positive regulation of intracellular protein transport] GO:0090630[activation of GTPase activity] GO:2000114[regulation of establishment of cell polarity] GO:2000251[positive regulation of actin cytoskeleton reorganization]
DeepTMHMM predicted secreted proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Protein evidence (Ezkurdia et al 2014)