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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
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
11
Cytoband
q22.3
Chromosome location (bp)
105025397 - 105035250
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 involved in a variety of inflammatory processes by proteolytically cleaving other proteins, such as the precursors of the inflammatory cytokines interleukin-1 beta (IL1B) and interleukin 18 (IL18) as well as the pyroptosis inducer Gasdermin-D (GSDMD), into active mature peptides 1,2,3,4,5,6. Plays a key role in cell immunity as an inflammatory response initiator: once activated through formation of an inflammasome complex, it initiates a pro-inflammatory response through the cleavage of the two inflammatory cytokines IL1B and IL18, releasing the mature cytokines which are involved in a variety of inflammatory processes 7,8,9,10,11. Cleaves a tetrapeptide after an Asp residue at position P1 12,13,14. Also initiates pyroptosis, a programmed lytic cell death pathway, through cleavage of GSDMD 15. In contrast to cleavage of interleukins IL1B and IL1B, recognition and cleavage of GSDMD is not strictly dependent on the consensus cleavage site but depends on an exosite interface on CASP1 that recognizes and binds the Gasdermin-D, C-terminal (GSDMD-CT) part 16,17,18. Cleaves and activates CASP7 in response to bacterial infection, promoting plasma membrane repair 19. Upon inflammasome activation, during DNA virus infection but not RNA virus challenge, controls antiviral immunity through the cleavage of CGAS, rendering it inactive 20. In apoptotic cells, cleaves SPHK2 which is released from cells and remains enzymatically active extracellularly 21....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 2 subunits, large and small, that dimerize to form the active enzyme. This gene was identified by its ability to proteolytically cleave and activate the inactive precursor of interleukin-1, a cytokine involved in the processes such as inflammation, septic shock, and wound healing. This gene has been shown to induce cell apoptosis and may function in various developmental stages. Studies of a similar gene in mouse suggest a role in the pathogenesis of Huntington disease. Alternative splicing results in transcript variants encoding distinct isoforms. [provided by RefSeq, Mar 2012]...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.
Enzymes ENZYME proteins Hydrolases Peptidases Cysteine-type peptidases Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Candidate cancer biomarkers 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:0002221[pattern recognition receptor signaling pathway] GO:0004175[endopeptidase activity] GO:0004197[cysteine-type endopeptidase activity] GO:0005515[protein binding] GO:0005730[nucleolus] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0005874[microtubule] GO:0005886[plasma membrane] GO:0006508[proteolysis] GO:0006915[apoptotic process] GO:0006919[activation of cysteine-type endopeptidase activity involved in apoptotic process] GO:0007165[signal transduction] GO:0007231[osmosensory signaling pathway] GO:0008233[peptidase activity] GO:0008234[cysteine-type peptidase activity] GO:0008656[cysteine-type endopeptidase activator activity involved in apoptotic process] GO:0016020[membrane] GO:0016540[protein autoprocessing] GO:0016787[hydrolase activity] GO:0019900[kinase binding] GO:0032731[positive regulation of interleukin-1 beta production] GO:0032991[protein-containing complex] GO:0042802[identical protein binding] GO:0042981[regulation of apoptotic process] GO:0043123[positive regulation of I-kappaB kinase/NF-kappaB signaling] GO:0043280[positive regulation of cysteine-type endopeptidase activity involved in apoptotic process] GO:0046456[icosanoid biosynthetic process] GO:0050700[CARD domain binding] GO:0050727[regulation of inflammatory response] GO:0050729[positive regulation of inflammatory response] GO:0051607[defense response to virus] GO:0061702[inflammasome complex] GO:0070269[pyroptosis] GO:0071222[cellular response to lipopolysaccharide] GO:0071260[cellular response to mechanical stimulus] GO:0071310[cellular response to organic substance] GO:0071346[cellular response to interferon-gamma] GO:0072557[IPAF inflammasome complex] GO:0072558[NLRP1 inflammasome complex] GO:0072559[NLRP3 inflammasome complex] GO:0097169[AIM2 inflammasome complex] GO:0097179[protease inhibitor complex] GO:0097190[apoptotic signaling pathway] GO:0097199[cysteine-type endopeptidase activity involved in apoptotic signaling pathway] GO:0140447[cytokine precursor processing] GO:0140448[signaling receptor ligand precursor processing] GO:1903265[positive regulation of tumor necrosis factor-mediated signaling pathway]
Enzymes ENZYME proteins Hydrolases Peptidases Cysteine-type peptidases Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Candidate cancer biomarkers Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0002221[pattern recognition receptor signaling pathway] GO:0004175[endopeptidase activity] GO:0004197[cysteine-type endopeptidase activity] GO:0005515[protein binding] GO:0005730[nucleolus] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0005874[microtubule] GO:0005886[plasma membrane] GO:0006508[proteolysis] GO:0006915[apoptotic process] GO:0006919[activation of cysteine-type endopeptidase activity involved in apoptotic process] GO:0007165[signal transduction] GO:0007231[osmosensory signaling pathway] GO:0008233[peptidase activity] GO:0008234[cysteine-type peptidase activity] GO:0008656[cysteine-type endopeptidase activator activity involved in apoptotic process] GO:0016020[membrane] GO:0016540[protein autoprocessing] GO:0016787[hydrolase activity] GO:0019900[kinase binding] GO:0032731[positive regulation of interleukin-1 beta production] GO:0032991[protein-containing complex] GO:0042802[identical protein binding] GO:0042981[regulation of apoptotic process] GO:0043123[positive regulation of I-kappaB kinase/NF-kappaB signaling] GO:0043280[positive regulation of cysteine-type endopeptidase activity involved in apoptotic process] GO:0046456[icosanoid biosynthetic process] GO:0050700[CARD domain binding] GO:0050727[regulation of inflammatory response] GO:0050729[positive regulation of inflammatory response] GO:0051607[defense response to virus] GO:0061702[inflammasome complex] GO:0070269[pyroptosis] GO:0071222[cellular response to lipopolysaccharide] GO:0071260[cellular response to mechanical stimulus] GO:0071310[cellular response to organic substance] GO:0071346[cellular response to interferon-gamma] GO:0072557[IPAF inflammasome complex] GO:0072558[NLRP1 inflammasome complex] GO:0072559[NLRP3 inflammasome complex] GO:0097169[AIM2 inflammasome complex] GO:0097179[protease inhibitor complex] GO:0097190[apoptotic signaling pathway] GO:0097199[cysteine-type endopeptidase activity involved in apoptotic signaling pathway] GO:0140447[cytokine precursor processing] GO:0140448[signaling receptor ligand precursor processing] GO:1903265[positive regulation of tumor necrosis factor-mediated signaling pathway]
Enzymes ENZYME proteins Hydrolases Peptidases Cysteine-type peptidases Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Candidate cancer biomarkers Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0002221[pattern recognition receptor signaling pathway] GO:0004175[endopeptidase activity] GO:0004197[cysteine-type endopeptidase activity] GO:0005515[protein binding] GO:0005730[nucleolus] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0005874[microtubule] GO:0005886[plasma membrane] GO:0006508[proteolysis] GO:0006915[apoptotic process] GO:0006919[activation of cysteine-type endopeptidase activity involved in apoptotic process] GO:0007165[signal transduction] GO:0007231[osmosensory signaling pathway] GO:0008233[peptidase activity] GO:0008234[cysteine-type peptidase activity] GO:0008656[cysteine-type endopeptidase activator activity involved in apoptotic process] GO:0016020[membrane] GO:0016540[protein autoprocessing] GO:0016787[hydrolase activity] GO:0019900[kinase binding] GO:0032731[positive regulation of interleukin-1 beta production] GO:0032991[protein-containing complex] GO:0042802[identical protein binding] GO:0042981[regulation of apoptotic process] GO:0043123[positive regulation of I-kappaB kinase/NF-kappaB signaling] GO:0043280[positive regulation of cysteine-type endopeptidase activity involved in apoptotic process] GO:0046456[icosanoid biosynthetic process] GO:0050700[CARD domain binding] GO:0050727[regulation of inflammatory response] GO:0050729[positive regulation of inflammatory response] GO:0051607[defense response to virus] GO:0061702[inflammasome complex] GO:0070269[pyroptosis] GO:0071222[cellular response to lipopolysaccharide] GO:0071260[cellular response to mechanical stimulus] GO:0071310[cellular response to organic substance] GO:0071346[cellular response to interferon-gamma] GO:0072557[IPAF inflammasome complex] GO:0072558[NLRP1 inflammasome complex] GO:0072559[NLRP3 inflammasome complex] GO:0097169[AIM2 inflammasome complex] GO:0097179[protease inhibitor complex] GO:0097190[apoptotic signaling pathway] GO:0097199[cysteine-type endopeptidase activity involved in apoptotic signaling pathway] GO:0140447[cytokine precursor processing] GO:0140448[signaling receptor ligand precursor processing] GO:1903265[positive regulation of tumor necrosis factor-mediated signaling pathway]
Enzymes ENZYME proteins Hydrolases Peptidases Cysteine-type peptidases Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Candidate cancer biomarkers Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0002221[pattern recognition receptor signaling pathway] GO:0004175[endopeptidase activity] GO:0004197[cysteine-type endopeptidase activity] GO:0005515[protein binding] GO:0005730[nucleolus] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0005874[microtubule] GO:0005886[plasma membrane] GO:0006508[proteolysis] GO:0006915[apoptotic process] GO:0006919[activation of cysteine-type endopeptidase activity involved in apoptotic process] GO:0007165[signal transduction] GO:0007231[osmosensory signaling pathway] GO:0008233[peptidase activity] GO:0008234[cysteine-type peptidase activity] GO:0008656[cysteine-type endopeptidase activator activity involved in apoptotic process] GO:0016020[membrane] GO:0016540[protein autoprocessing] GO:0016787[hydrolase activity] GO:0019900[kinase binding] GO:0032731[positive regulation of interleukin-1 beta production] GO:0032991[protein-containing complex] GO:0042802[identical protein binding] GO:0042981[regulation of apoptotic process] GO:0043123[positive regulation of I-kappaB kinase/NF-kappaB signaling] GO:0043280[positive regulation of cysteine-type endopeptidase activity involved in apoptotic process] GO:0046456[icosanoid biosynthetic process] GO:0050700[CARD domain binding] GO:0050727[regulation of inflammatory response] GO:0050729[positive regulation of inflammatory response] GO:0051607[defense response to virus] GO:0061702[inflammasome complex] GO:0070269[pyroptosis] GO:0071222[cellular response to lipopolysaccharide] GO:0071260[cellular response to mechanical stimulus] GO:0071310[cellular response to organic substance] GO:0071346[cellular response to interferon-gamma] GO:0072557[IPAF inflammasome complex] GO:0072558[NLRP1 inflammasome complex] GO:0072559[NLRP3 inflammasome complex] GO:0097169[AIM2 inflammasome complex] GO:0097179[protease inhibitor complex] GO:0097190[apoptotic signaling pathway] GO:0097199[cysteine-type endopeptidase activity involved in apoptotic signaling pathway] GO:0140447[cytokine precursor processing] GO:0140448[signaling receptor ligand precursor processing] GO:1903265[positive regulation of tumor necrosis factor-mediated signaling pathway]
Enzymes ENZYME proteins Hydrolases Peptidases Cysteine-type peptidases Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Candidate cancer biomarkers Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0002221[pattern recognition receptor signaling pathway] GO:0004175[endopeptidase activity] GO:0004197[cysteine-type endopeptidase activity] GO:0005515[protein binding] GO:0005730[nucleolus] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0005874[microtubule] GO:0005886[plasma membrane] GO:0006508[proteolysis] GO:0006915[apoptotic process] GO:0006919[activation of cysteine-type endopeptidase activity involved in apoptotic process] GO:0007165[signal transduction] GO:0007231[osmosensory signaling pathway] GO:0008233[peptidase activity] GO:0008234[cysteine-type peptidase activity] GO:0008656[cysteine-type endopeptidase activator activity involved in apoptotic process] GO:0016020[membrane] GO:0016540[protein autoprocessing] GO:0016787[hydrolase activity] GO:0019900[kinase binding] GO:0032731[positive regulation of interleukin-1 beta production] GO:0032991[protein-containing complex] GO:0042802[identical protein binding] GO:0042981[regulation of apoptotic process] GO:0043123[positive regulation of I-kappaB kinase/NF-kappaB signaling] GO:0043280[positive regulation of cysteine-type endopeptidase activity involved in apoptotic process] GO:0046456[icosanoid biosynthetic process] GO:0050700[CARD domain binding] GO:0050727[regulation of inflammatory response] GO:0050729[positive regulation of inflammatory response] GO:0051607[defense response to virus] GO:0061702[inflammasome complex] GO:0070269[pyroptosis] GO:0071222[cellular response to lipopolysaccharide] GO:0071260[cellular response to mechanical stimulus] GO:0071310[cellular response to organic substance] GO:0071346[cellular response to interferon-gamma] GO:0072557[IPAF inflammasome complex] GO:0072558[NLRP1 inflammasome complex] GO:0072559[NLRP3 inflammasome complex] GO:0097169[AIM2 inflammasome complex] GO:0097179[protease inhibitor complex] GO:0097190[apoptotic signaling pathway] GO:0097199[cysteine-type endopeptidase activity involved in apoptotic signaling pathway] GO:0140447[cytokine precursor processing] GO:0140448[signaling receptor ligand precursor processing] GO:1903265[positive regulation of tumor necrosis factor-mediated signaling pathway]
Enzymes ENZYME proteins Hydrolases Peptidases Cysteine-type peptidases Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Candidate cancer biomarkers Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0002221[pattern recognition receptor signaling pathway] GO:0004175[endopeptidase activity] GO:0004197[cysteine-type endopeptidase activity] GO:0005515[protein binding] GO:0005730[nucleolus] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0005874[microtubule] GO:0005886[plasma membrane] GO:0006508[proteolysis] GO:0006915[apoptotic process] GO:0006919[activation of cysteine-type endopeptidase activity involved in apoptotic process] GO:0007165[signal transduction] GO:0007231[osmosensory signaling pathway] GO:0008233[peptidase activity] GO:0008234[cysteine-type peptidase activity] GO:0008656[cysteine-type endopeptidase activator activity involved in apoptotic process] GO:0016020[membrane] GO:0016540[protein autoprocessing] GO:0016787[hydrolase activity] GO:0019900[kinase binding] GO:0032731[positive regulation of interleukin-1 beta production] GO:0032991[protein-containing complex] GO:0042802[identical protein binding] GO:0042981[regulation of apoptotic process] GO:0043123[positive regulation of I-kappaB kinase/NF-kappaB signaling] GO:0043280[positive regulation of cysteine-type endopeptidase activity involved in apoptotic process] GO:0046456[icosanoid biosynthetic process] GO:0050700[CARD domain binding] GO:0050727[regulation of inflammatory response] GO:0050729[positive regulation of inflammatory response] GO:0051607[defense response to virus] GO:0061702[inflammasome complex] GO:0070269[pyroptosis] GO:0071222[cellular response to lipopolysaccharide] GO:0071260[cellular response to mechanical stimulus] GO:0071310[cellular response to organic substance] GO:0071346[cellular response to interferon-gamma] GO:0072557[IPAF inflammasome complex] GO:0072558[NLRP1 inflammasome complex] GO:0072559[NLRP3 inflammasome complex] GO:0097169[AIM2 inflammasome complex] GO:0097179[protease inhibitor complex] GO:0097190[apoptotic signaling pathway] GO:0097199[cysteine-type endopeptidase activity involved in apoptotic signaling pathway] GO:0140447[cytokine precursor processing] GO:0140448[signaling receptor ligand precursor processing] GO:1903265[positive regulation of tumor necrosis factor-mediated signaling pathway]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)