Aliases for CASP6 Gene
External Ids for CASP6 Gene
Previous GeneCards Identifiers for CASP6 Gene
This gene encodes a member of the cysteine-aspartic acid protease (caspase) family of enzymes. 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 acid residues to produce two subunits, large and small, that dimerize to form the active enzyme. This protein is processed by caspases 7, 8 and 10, and is thought to function as a downstream enzyme in the caspase activation cascade. Alternative splicing of this gene results in multiple transcript variants that encode different isoforms. [provided by RefSeq, Oct 2015]
GeneCards Summary for CASP6 Gene
CASP6 (Caspase 6) is a Protein Coding gene. Diseases associated with CASP6 include Thoracic Cancer and Dystrophinopathies. Among its related pathways are Granzyme Pathway and Presenilin-Mediated Signaling. Gene Ontology (GO) annotations related to this gene include identical protein binding and cysteine-type peptidase activity. An important paralog of this gene is CASP3.
UniProtKB/Swiss-Prot Summary for CASP6 Gene
Cysteine protease that plays essential roles in programmed cell death, axonal degeneration, development and innate immunity (PubMed:8663580, PubMed:32298652). During apoptosis, localizes in the nucleus and cleaves the nuclear structural protein NUMA1 and lamin A/LMNA thereby inducing nuclear shrinkage and fragmentation (PubMed:17401638, PubMed:8663580, PubMed:9463409). Furthermore, cleaves many transcription factors such as NF-kappa-B and cAMP response element-binding protein/CREBBP (PubMed:10559921, PubMed:14657026). Plays an essential role in axon degeneration during axon pruning which is the remodeling of axons during neurogenesis but not apoptosis (By similarity). Regulates B-cell programs both during early development and after antigen stimulation (By similarity). In addition, promotes the ZBP1-mediated activation of programmed cell death pathways including pyroptosis, apoptosis, and necroptosis (PANoptosis) and plays an essential role in defense against viruses (PubMed:32298652). Mechanistically, interacts with RIPK3 and enhances the interaction between RIPK3 and ZBP1, leading to ZBP1-mediated inflammasome activation and cell death (PubMed:32298652).
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.