Entrez gene ID | | 834 |
Official gene symbol | | CASP1 |
Full name | | caspase 1, apoptosis-related cysteine peptidase (interleukin 1, beta, convertase) |
Aliases | | ,ICE,IL1BC,P45, |
Gene summary | | 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 of this gene results in five transcript variants encoding distinct isoforms. [provided by RefSeq] |
Location | | Chromosome: 11 Locus: 11q23 |
Gene position | | 104905857 - 104896235 Map Viewer |
Gene orientation | | minus |
Gene size | | 9623 bp |
Gene sequence |
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OMIM ID | | 147678 |
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