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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 Enzymes Human disease related genes Potential drug targets
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
2
Cytoband
q33.1
Chromosome location (bp)
201182872 - 201229428
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Involved in the activation cascade of caspases responsible for apoptosis execution. Recruited to both Fas- and TNFR-1 receptors in a FADD dependent manner. May participate in the granzyme B apoptotic pathways. Cleaves and activates effector caspases CASP3, CASP4, CASP6, CASP7, CASP8 and CASP9. Hydrolyzes the small-molecule substrates, Tyr-Val-Ala-Asp-|-AMC and Asp-Glu-Val-Asp-|-AMC....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
This gene encodes a protein which is a member of the cysteine-aspartic acid protease (caspase) family. Sequential activation of caspases plays a central role in the execution-phase of cell apoptosis. Caspases exist as inactive proenzymes which undergo proteolytic processing at conserved aspartic residues to produce two subunits, large and small, that dimerize to form the active enzyme. This protein cleaves and activates caspases 3 and 7, and the protein itself is processed by caspase 8. Mutations in this gene are associated with type IIA autoimmune lymphoproliferative syndrome, non-Hodgkin lymphoma and gastric cancer. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Apr 2011]...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 Cancer-related genes Candidate cancer biomarkers Disease related genes Potential drug targets Human disease related genes Cancers Cancers of haematopoietic and lymphoid tissues 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:0004197[cysteine-type endopeptidase activity] GO:0005515[protein binding] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0006508[proteolysis] GO:0006915[apoptotic process] GO:0006919[activation of cysteine-type endopeptidase activity involved in apoptotic process] GO:0008233[peptidase activity] GO:0008234[cysteine-type peptidase activity] GO:0016787[hydrolase activity] GO:0031265[CD95 death-inducing signaling complex] GO:0031625[ubiquitin protein ligase binding] GO:0035877[death effector domain binding] GO:0042981[regulation of apoptotic process] GO:0043123[positive regulation of I-kappaB kinase/NF-kappaB signaling] 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:0097342[ripoptosome]
Enzymes ENZYME proteins Hydrolases Peptidases Cysteine-type peptidases Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Candidate cancer biomarkers Disease related genes Potential drug targets Human disease related genes Cancers Cancers of haematopoietic and lymphoid tissues 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)
Show all
GO:0004197[cysteine-type endopeptidase activity] GO:0005515[protein binding] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0006508[proteolysis] GO:0006915[apoptotic process] GO:0006919[activation of cysteine-type endopeptidase activity involved in apoptotic process] GO:0008233[peptidase activity] GO:0008234[cysteine-type peptidase activity] GO:0016787[hydrolase activity] GO:0031265[CD95 death-inducing signaling complex] GO:0031625[ubiquitin protein ligase binding] GO:0035877[death effector domain binding] GO:0042981[regulation of apoptotic process] GO:0043123[positive regulation of I-kappaB kinase/NF-kappaB signaling] 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:0097342[ripoptosome]
Enzymes ENZYME proteins Hydrolases Peptidases Cysteine-type peptidases Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Candidate cancer biomarkers Disease related genes Potential drug targets Human disease related genes Cancers Cancers of haematopoietic and lymphoid tissues 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)
Show all
GO:0004197[cysteine-type endopeptidase activity] GO:0005515[protein binding] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0006508[proteolysis] GO:0006915[apoptotic process] GO:0006919[activation of cysteine-type endopeptidase activity involved in apoptotic process] GO:0008233[peptidase activity] GO:0008234[cysteine-type peptidase activity] GO:0016787[hydrolase activity] GO:0031265[CD95 death-inducing signaling complex] GO:0031625[ubiquitin protein ligase binding] GO:0035877[death effector domain binding] GO:0042981[regulation of apoptotic process] GO:0043123[positive regulation of I-kappaB kinase/NF-kappaB signaling] 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:0097342[ripoptosome]
Enzymes ENZYME proteins Hydrolases Peptidases Cysteine-type peptidases Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Candidate cancer biomarkers Disease related genes Potential drug targets Human disease related genes Cancers Cancers of haematopoietic and lymphoid tissues 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)
Show all
GO:0004197[cysteine-type endopeptidase activity] GO:0005515[protein binding] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0006508[proteolysis] GO:0006915[apoptotic process] GO:0006919[activation of cysteine-type endopeptidase activity involved in apoptotic process] GO:0008233[peptidase activity] GO:0008234[cysteine-type peptidase activity] GO:0016787[hydrolase activity] GO:0031265[CD95 death-inducing signaling complex] GO:0031625[ubiquitin protein ligase binding] GO:0035877[death effector domain binding] GO:0042981[regulation of apoptotic process] GO:0043123[positive regulation of I-kappaB kinase/NF-kappaB signaling] 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:0097342[ripoptosome]
Enzymes ENZYME proteins Hydrolases Peptidases Cysteine-type peptidases Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Candidate cancer biomarkers Disease related genes Potential drug targets Human disease related genes Cancers Cancers of haematopoietic and lymphoid tissues Immune system diseases Primary immunodeficiency Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004197[cysteine-type endopeptidase activity] GO:0005515[protein binding] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0006508[proteolysis] GO:0006915[apoptotic process] GO:0006919[activation of cysteine-type endopeptidase activity involved in apoptotic process] GO:0008233[peptidase activity] GO:0008234[cysteine-type peptidase activity] GO:0016787[hydrolase activity] GO:0031265[CD95 death-inducing signaling complex] GO:0031625[ubiquitin protein ligase binding] GO:0035877[death effector domain binding] GO:0042981[regulation of apoptotic process] GO:0043123[positive regulation of I-kappaB kinase/NF-kappaB signaling] 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:0097342[ripoptosome]
Enzymes ENZYME proteins Hydrolases Peptidases Cysteine-type peptidases Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Candidate cancer biomarkers Disease related genes Potential drug targets Human disease related genes Cancers Cancers of haematopoietic and lymphoid tissues 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)
Show all
GO:0004197[cysteine-type endopeptidase activity] GO:0005515[protein binding] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0006508[proteolysis] GO:0006915[apoptotic process] GO:0006919[activation of cysteine-type endopeptidase activity involved in apoptotic process] GO:0008233[peptidase activity] GO:0008234[cysteine-type peptidase activity] GO:0016787[hydrolase activity] GO:0031265[CD95 death-inducing signaling complex] GO:0031625[ubiquitin protein ligase binding] GO:0035877[death effector domain binding] GO:0042981[regulation of apoptotic process] GO:0043123[positive regulation of I-kappaB kinase/NF-kappaB signaling] 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:0097342[ripoptosome]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Cancers Cancers of haematopoietic and lymphoid tissues Immune system diseases Primary immunodeficiency Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004197[cysteine-type endopeptidase activity] GO:0005515[protein binding] GO:0006508[proteolysis] GO:0042981[regulation of apoptotic process] GO:0097199[cysteine-type endopeptidase activity involved in apoptotic signaling pathway]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Cancers Cancers of haematopoietic and lymphoid tissues Immune system diseases Primary immunodeficiency Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004197[cysteine-type endopeptidase activity] GO:0005515[protein binding] GO:0006508[proteolysis] GO:0042981[regulation of apoptotic process] GO:0097199[cysteine-type endopeptidase activity involved in apoptotic signaling pathway]
The Human Protein Atlas project is funded
