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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 Human disease related genes
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
1
Cytoband
q21.3
Chromosome location (bp)
154272355 - 154275875
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Recruits the Arp2/3 complex to the cell cortex and regulates reorganization of the cortical actin cytoskeleton via its interaction with KCNC3 and the Arp2/3 complex 1. Slows down the rate of inactivation of KCNC3 channels 2. Promotes GNA13-mediated cell migration. Involved in the clathrin-mediated endocytosis pathway. May be involved in internalization of ABC transporters such as ABCB11. May inhibit CASP9 and CASP3. Promotes cell survival. May regulate intracellular calcium pools....show less
Gene summary (Entrez)i
Useful information about the gene from Entrez
The protein encoded by this gene is known to associate with hematopoietic cell-specific Lyn substrate 1, a substrate of Src family tyrosine kinases. It also interacts with the product of the polycystic kidney disease 2 gene, mutations in which are associated with autosomal-dominant polycystic kidney disease, and with the 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. Mutations in this gene result in autosomal recessive severe congenital neutropenia, also known as Kostmann disease. 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 ENSP identifier links to the Ensembl website protein summary, while the ENST identifier links to the Ensembl website transcript summary for the selected splice variant. The data in the UniProt column can be expanded to show links to all matching UniProt identifiers for this protein.
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 Gene Ontology terms assigned to this protein are listed if expanding the Gene ontology column. The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide (according to a majority of the signal peptide predictors SPOCTOPUS, SignalP 4.0, and Phobius) and the number of predicted transmembrane region(s) (according to MDM) are also reported.
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Human disease related genes Immune system diseases Primary immunodeficiency 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:0000932[P-body] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005635[nuclear envelope] GO:0005667[transcription regulator complex] GO:0005737[cytoplasm] GO:0005739[mitochondrion] GO:0005741[mitochondrial outer membrane] GO:0005758[mitochondrial intermembrane space] GO:0005783[endoplasmic reticulum] GO:0005886[plasma membrane] GO:0005938[cell cortex] GO:0014068[positive regulation of phosphatidylinositol 3-kinase signaling] GO:0015629[actin cytoskeleton] GO:0016020[membrane] GO:0016324[apical plasma membrane] GO:0016529[sarcoplasmic reticulum] GO:0019966[interleukin-1 binding] GO:0030027[lamellipodium] GO:0030136[clathrin-coated vesicle] GO:0030833[regulation of actin filament polymerization] GO:0030854[positive regulation of granulocyte differentiation] GO:0031410[cytoplasmic vesicle] GO:0031965[nuclear membrane] GO:0033138[positive regulation of peptidyl-serine phosphorylation] GO:0042981[regulation of apoptotic process] GO:0043066[negative regulation of apoptotic process] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0047485[protein N-terminus binding] GO:0050731[positive regulation of peptidyl-tyrosine phosphorylation] GO:0051897[positive regulation of protein kinase B signaling] GO:0071345[cellular response to cytokine stimulus] GO:1903146[regulation of autophagy of mitochondrion] GO:1903214[regulation of protein targeting to mitochondrion] GO:2000251[positive regulation of actin cytoskeleton reorganization]
Q5VYD6 [Direct mapping] HCLS1-associated protein X-1
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THUMBUP predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Immune system diseases Primary immunodeficiency Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Human disease related genes Immune system diseases Primary immunodeficiency 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:0000932[P-body] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005635[nuclear envelope] GO:0005667[transcription regulator complex] GO:0005737[cytoplasm] GO:0005739[mitochondrion] GO:0005741[mitochondrial outer membrane] GO:0005758[mitochondrial intermembrane space] GO:0005783[endoplasmic reticulum] GO:0005886[plasma membrane] GO:0005938[cell cortex] GO:0014068[positive regulation of phosphatidylinositol 3-kinase signaling] GO:0015629[actin cytoskeleton] GO:0016020[membrane] GO:0016324[apical plasma membrane] GO:0016529[sarcoplasmic reticulum] GO:0019966[interleukin-1 binding] GO:0030027[lamellipodium] GO:0030136[clathrin-coated vesicle] GO:0030833[regulation of actin filament polymerization] GO:0030854[positive regulation of granulocyte differentiation] GO:0031410[cytoplasmic vesicle] GO:0031965[nuclear membrane] GO:0033138[positive regulation of peptidyl-serine phosphorylation] GO:0042981[regulation of apoptotic process] GO:0043066[negative regulation of apoptotic process] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0047485[protein N-terminus binding] GO:0050731[positive regulation of peptidyl-tyrosine phosphorylation] GO:0051897[positive regulation of protein kinase B signaling] GO:0071345[cellular response to cytokine stimulus] GO:1903146[regulation of autophagy of mitochondrion] GO:1903214[regulation of protein targeting to mitochondrion] GO:2000251[positive regulation of actin cytoskeleton reorganization]
O00165 [Direct mapping] HCLS1-associated protein X-1
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Human disease related genes Immune system diseases Primary immunodeficiency Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
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GO:0000932[P-body] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005635[nuclear envelope] GO:0005667[transcription regulator complex] GO:0005737[cytoplasm] GO:0005739[mitochondrion] GO:0005741[mitochondrial outer membrane] GO:0005758[mitochondrial intermembrane space] GO:0005783[endoplasmic reticulum] GO:0005886[plasma membrane] GO:0005938[cell cortex] GO:0014068[positive regulation of phosphatidylinositol 3-kinase signaling] GO:0015629[actin cytoskeleton] GO:0016020[membrane] GO:0016324[apical plasma membrane] GO:0016529[sarcoplasmic reticulum] GO:0019966[interleukin-1 binding] GO:0030027[lamellipodium] GO:0030136[clathrin-coated vesicle] GO:0030833[regulation of actin filament polymerization] GO:0030854[positive regulation of granulocyte differentiation] GO:0031410[cytoplasmic vesicle] GO:0031965[nuclear membrane] GO:0033138[positive regulation of peptidyl-serine phosphorylation] GO:0042981[regulation of apoptotic process] GO:0043066[negative regulation of apoptotic process] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0047485[protein N-terminus binding] GO:0050731[positive regulation of peptidyl-tyrosine phosphorylation] GO:0051897[positive regulation of protein kinase B signaling] GO:0071345[cellular response to cytokine stimulus] GO:1903146[regulation of autophagy of mitochondrion] GO:1903214[regulation of protein targeting to mitochondrion] GO:2000251[positive regulation of actin cytoskeleton reorganization]
E9PIQ7 [Direct mapping] HCLS1-associated protein X-1
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Immune system diseases Primary immunodeficiency Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Immune system diseases Primary immunodeficiency Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Immune system diseases Primary immunodeficiency Protein evidence (Ezkurdia et al 2014)
Show all
GO:0043066[negative regulation of apoptotic process]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Immune system diseases Primary immunodeficiency Protein evidence (Ezkurdia et al 2014)
Show all
GO:0043066[negative regulation of apoptotic process]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Immune system diseases Primary immunodeficiency Protein evidence (Ezkurdia et al 2014)
Show all
GO:0043066[negative regulation of apoptotic process]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Immune system diseases Primary immunodeficiency Protein evidence (Ezkurdia et al 2014)
Show all
GO:0043066[negative regulation of apoptotic process]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Immune system diseases Primary immunodeficiency Protein evidence (Ezkurdia et al 2014)
Show all
GO:0043066[negative regulation of apoptotic process]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Immune system diseases Primary immunodeficiency Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Immune system diseases Primary immunodeficiency Protein evidence (Ezkurdia et al 2014)
Show all
GO:0043066[negative regulation of apoptotic process]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Immune system diseases Primary immunodeficiency Protein evidence (Ezkurdia et al 2014)
Show all
GO:0043066[negative regulation of apoptotic process]
The Human Protein Atlas project is funded
