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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).
Cancer-related genes 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
4
Cytoband
q23
Chromosome location (bp)
98261384 - 98443858
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Acts as a GEF (guanine nucleotide exchange factor) for the Rho family of small GTP-binding proteins (G proteins) that stimulates the dissociation of GDP to enable subsequent binding of GTP 1,2,3,4,5. Additionally, appears to chaperone the processing and/or trafficking of small GTPases containing a C-terminal polybasic region independently of GEF activity 6,7. Targets include RAP1A/RAP1B, RHOA, RHOB, RHOC, RAC1 and KRAS 8,9,10,11. Regulates mitochondrial dynamics by controlling RHOT function to promote mitochondrial fission during high calcium conditions 12. Able to promote the Ca(2+) release from the endoplasmic reticulum via both inositol trisphosphate (Ins3P) and ryanodine sensitive receptors leading to a enhanced mitochondrial Ca(2+) uptake 13....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
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 Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations 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:0005085[guanyl-nucleotide exchange factor activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005737[cytoplasm] GO:0005739[mitochondrion] GO:0005783[endoplasmic reticulum] GO:0005829[cytosol] GO:0010821[regulation of mitochondrion organization] GO:0032471[negative regulation of endoplasmic reticulum calcium ion concentration] GO:0034504[protein localization to nucleus] GO:0043547[positive regulation of GTPase activity] GO:0051561[positive regulation of mitochondrial calcium ion concentration] GO:0070062[extracellular exosome] GO:0080120[CAAX-box protein maturation]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations 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:0005085[guanyl-nucleotide exchange factor activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005737[cytoplasm] GO:0005739[mitochondrion] GO:0005783[endoplasmic reticulum] GO:0005829[cytosol] GO:0010821[regulation of mitochondrion organization] GO:0032471[negative regulation of endoplasmic reticulum calcium ion concentration] GO:0034504[protein localization to nucleus] GO:0043547[positive regulation of GTPase activity] GO:0051561[positive regulation of mitochondrial calcium ion concentration] GO:0070062[extracellular exosome] GO:0080120[CAAX-box protein maturation]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Disease related genes Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005085[guanyl-nucleotide exchange factor activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005737[cytoplasm] GO:0005739[mitochondrion] GO:0005783[endoplasmic reticulum] GO:0005829[cytosol] GO:0010821[regulation of mitochondrion organization] GO:0032471[negative regulation of endoplasmic reticulum calcium ion concentration] GO:0034504[protein localization to nucleus] GO:0043547[positive regulation of GTPase activity] GO:0051561[positive regulation of mitochondrial calcium ion concentration] GO:0070062[extracellular exosome] GO:0080120[CAAX-box protein maturation]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Disease related genes Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005085[guanyl-nucleotide exchange factor activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005737[cytoplasm] GO:0005739[mitochondrion] GO:0005783[endoplasmic reticulum] GO:0005829[cytosol] GO:0010821[regulation of mitochondrion organization] GO:0032471[negative regulation of endoplasmic reticulum calcium ion concentration] GO:0034504[protein localization to nucleus] GO:0043547[positive regulation of GTPase activity] GO:0051561[positive regulation of mitochondrial calcium ion concentration] GO:0070062[extracellular exosome] GO:0080120[CAAX-box protein maturation]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations 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:0003300[cardiac muscle hypertrophy] GO:0005085[guanyl-nucleotide exchange factor activity] GO:0005515[protein binding] GO:0005615[extracellular space] GO:0005634[nucleus] GO:0005737[cytoplasm] GO:0005739[mitochondrion] GO:0005783[endoplasmic reticulum] GO:0005829[cytosol] GO:0010821[regulation of mitochondrion organization] GO:0014829[vascular associated smooth muscle contraction] GO:0030695[GTPase regulator activity] GO:0031034[myosin filament assembly] GO:0032471[negative regulation of endoplasmic reticulum calcium ion concentration] GO:0034260[negative regulation of GTPase activity] GO:0034504[protein localization to nucleus] GO:0043547[positive regulation of GTPase activity] GO:0051561[positive regulation of mitochondrial calcium ion concentration] GO:0070062[extracellular exosome] GO:0070376[regulation of ERK5 cascade] GO:0080120[CAAX-box protein maturation] GO:0086098[angiotensin-activated signaling pathway involved in heart process] GO:1904464[regulation of matrix metallopeptidase secretion]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Disease related genes Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005085[guanyl-nucleotide exchange factor activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005737[cytoplasm] GO:0005739[mitochondrion] GO:0005783[endoplasmic reticulum] GO:0005829[cytosol] GO:0010821[regulation of mitochondrion organization] GO:0032471[negative regulation of endoplasmic reticulum calcium ion concentration] GO:0034504[protein localization to nucleus] GO:0043547[positive regulation of GTPase activity] GO:0051561[positive regulation of mitochondrial calcium ion concentration] GO:0070062[extracellular exosome] GO:0080120[CAAX-box protein maturation]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005085[guanyl-nucleotide exchange factor activity] GO:0043547[positive regulation of GTPase activity]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Protein evidence (Ezkurdia et al 2014)
The Human Protein Atlas project is funded
