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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 Enzymes FDA approved drug targets 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
4
Cytoband
q35.1
Chromosome location (bp)
184627696 - 184650062
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Thiol protease that acts as a major effector caspase involved in the execution phase of apoptosis 1,2,3,4,5,6. Following cleavage and activation by initiator caspases (CASP8, CASP9 and/or CASP10), mediates execution of apoptosis by catalyzing cleavage of many proteins 7,8,9,10. At the onset of apoptosis, it proteolytically cleaves poly(ADP-ribose) polymerase PARP1 at a '216-Asp-|-Gly-217' bond 11,12,13,14. Cleaves and activates sterol regulatory element binding proteins (SREBPs) between the basic helix-loop-helix leucine zipper domain and the membrane attachment domain (By similarity). Cleaves and activates caspase-6, -7 and -9 (CASP6, CASP7 and CASP9, respectively) 15. Cleaves and inactivates interleukin-18 (IL18) 16,17. Involved in the cleavage of huntingtin 18. Triggers cell adhesion in sympathetic neurons through RET cleavage 19. Cleaves and inhibits serine/threonine-protein kinase AKT1 in response to oxidative stress 20. Acts as an inhibitor of type I interferon production during virus-induced apoptosis by mediating cleavage of antiviral proteins CGAS, IRF3 and MAVS, thereby preventing cytokine overproduction 21. Also involved in pyroptosis by mediating cleavage and activation of gasdermin-E (GSDME) 22,23. Cleaves XRCC4 and phospholipid scramblase proteins XKR4, XKR8 and XKR9, leading to promote phosphatidylserine exposure on apoptotic cell surface 24,25....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Hydrolase, Protease, Thiol protease
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Apoptosis
Gene summary (Entrez)i
Useful information about the gene from Entrez
The protein encoded by this gene is a cysteine-aspartic acid protease that plays a central role in the execution-phase of cell apoptosis. The encoded protein cleaves and inactivates poly(ADP-ribose) polymerase while it cleaves and activates sterol regulatory element binding proteins as well as caspases 6, 7, and 9. This protein itself is 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. [provided by RefSeq, Aug 2017]...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 Peptidases Cysteine-type peptidases Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Cancer-related genes Candidate cancer biomarkers FDA approved drug targets Small molecule drugs 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:0001554[luteolysis] GO:0001666[response to hypoxia] GO:0001782[B cell homeostasis] GO:0002020[protease binding] GO:0004175[endopeptidase activity] GO:0004190[aspartic-type endopeptidase activity] GO:0004197[cysteine-type endopeptidase activity] GO:0004861[cyclin-dependent protein serine/threonine kinase inhibitor activity] GO:0005123[death receptor binding] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0006508[proteolysis] GO:0006915[apoptotic process] GO:0006974[cellular response to DNA damage stimulus] GO:0007413[axonal fasciculation] GO:0007507[heart development] GO:0007605[sensory perception of sound] GO:0007611[learning or memory] GO:0008233[peptidase activity] GO:0008234[cysteine-type peptidase activity] GO:0008627[intrinsic apoptotic signaling pathway in response to osmotic stress] GO:0009410[response to xenobiotic stimulus] GO:0009411[response to UV] GO:0009611[response to wounding] GO:0009749[response to glucose] GO:0010033[response to organic substance] GO:0010038[response to metal ion] GO:0010165[response to X-ray] GO:0014070[response to organic cyclic compound] GO:0016005[phospholipase A2 activator activity] GO:0016241[regulation of macroautophagy] GO:0016485[protein processing] GO:0016787[hydrolase activity] GO:0021766[hippocampus development] GO:0030163[protein catabolic process] GO:0030182[neuron differentiation] GO:0030216[keratinocyte differentiation] GO:0030218[erythrocyte differentiation] GO:0030220[platelet formation] GO:0030889[negative regulation of B cell proliferation] GO:0031264[death-inducing signaling complex] GO:0031647[regulation of protein stability] GO:0032025[response to cobalt ion] GO:0032355[response to estradiol] GO:0032496[response to lipopolysaccharide] GO:0034349[glial cell apoptotic process] GO:0034612[response to tumor necrosis factor] GO:0035094[response to nicotine] GO:0035556[intracellular signal transduction] GO:0042060[wound healing] GO:0042542[response to hydrogen peroxide] GO:0043025[neuronal cell body] GO:0043029[T cell homeostasis] GO:0043065[positive regulation of apoptotic process] GO:0043200[response to amino acid] GO:0043525[positive regulation of neuron apoptotic process] GO:0044346[fibroblast apoptotic process] GO:0044877[protein-containing complex binding] GO:0045121[membrane raft] GO:0045165[cell fate commitment] GO:0045736[negative regulation of cyclin-dependent protein serine/threonine kinase activity] GO:0045786[negative regulation of cell cycle] GO:0046007[negative regulation of activated T cell proliferation] GO:0046677[response to antibiotic] GO:0048011[neurotrophin TRK receptor signaling pathway] GO:0051146[striated muscle cell differentiation] GO:0051384[response to glucocorticoid] GO:0051402[neuron apoptotic process] GO:0061713[anterior neural tube closure] GO:0071310[cellular response to organic substance] GO:0071407[cellular response to organic cyclic compound] GO:0071887[leukocyte apoptotic process] GO:0072734[cellular response to staurosporine] GO:0097153[cysteine-type endopeptidase activity involved in apoptotic process] GO:0097190[apoptotic signaling pathway] GO:0097194[execution phase of apoptosis] GO:0097199[cysteine-type endopeptidase activity involved in apoptotic signaling pathway] GO:0097200[cysteine-type endopeptidase activity involved in execution phase of apoptosis] GO:1902004[positive regulation of amyloid-beta formation] GO:1904019[epithelial cell apoptotic process]
Enzymes ENZYME proteins Hydrolases Peptidases Cysteine-type peptidases Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Cancer-related genes Candidate cancer biomarkers FDA approved drug targets Small molecule drugs 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:0004197[cysteine-type endopeptidase activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0006508[proteolysis] GO:0006915[apoptotic process] GO:0008233[peptidase activity] GO:0008234[cysteine-type peptidase activity] GO:0016241[regulation of macroautophagy] GO:0016787[hydrolase activity] GO:0030182[neuron differentiation] GO:0030216[keratinocyte differentiation] GO:0030218[erythrocyte differentiation] GO:0030220[platelet formation] GO:0031647[regulation of protein stability] GO:0034612[response to tumor necrosis factor] GO:0035556[intracellular signal transduction] GO:0043065[positive regulation of apoptotic process] GO:0048011[neurotrophin TRK receptor signaling pathway] GO:0072734[cellular response to staurosporine] GO:0097153[cysteine-type endopeptidase activity involved in apoptotic process] GO:0097190[apoptotic signaling pathway] GO:0097194[execution phase of apoptosis] GO:0097199[cysteine-type endopeptidase activity involved in apoptotic signaling pathway] GO:0097200[cysteine-type endopeptidase activity involved in execution phase of apoptosis] GO:1902004[positive regulation of amyloid-beta formation]
The Human Protein Atlas project is funded
