Aliases for CASP1 Gene
External Ids for CASP1 Gene
Previous HGNC Symbols for CASP1 Gene
Previous GeneCards Identifiers for CASP1 Gene
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]
GeneCards Summary for CASP1 Gene
CASP1 (Caspase 1) is a Protein Coding gene. Diseases associated with CASP1 include Cowpox and Shigellosis. Among its related pathways are Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways and Apoptosis Modulation and Signaling. Gene Ontology (GO) annotations related to this gene include peptidase activity and cysteine-type peptidase activity. An important paralog of this gene is CASP4.
UniProtKB/Swiss-Prot Summary for CASP1 Gene
Thiol protease that cleaves IL-1 beta between an Asp and an Ala, releasing the mature cytokine which is involved in a variety of inflammatory processes. Important for defense against pathogens. Cleaves and activates sterol regulatory element binding proteins (SREBPs). Can also promote apoptosis. Upon inflammasome activation, during DNA virus infection but not RNA virus challenge, controls antiviral immunity through the cleavage of CGAS, rendering it inactive (PubMed:28314590). In apoptotic cells, cleaves SPHK2 which is released from cells and remains enzymatically active extracellularly (PubMed:20197547).
Caspases (cysteinyl aspartate proteases) are involved in the signaling pathways of apoptosis, necrosis and inflammation. These enzymes can be divided into initiators and effectors. The initiator isoforms are activated by, and interact with, upstream adaptor molecules.