Aliases for CAPN1 Gene
External Ids for CAPN1 Gene
Previous GeneCards Identifiers for CAPN1 Gene
The calpains, calcium-activated neutral proteases, are nonlysosomal, intracellular cysteine proteases. The mammalian calpains include ubiquitous, stomach-specific, and muscle-specific proteins. The ubiquitous enzymes consist of heterodimers with distinct large, catalytic subunits associated with a common small, regulatory subunit. This gene encodes the large subunit of the ubiquitous enzyme, calpain 1. Several transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Nov 2010]
GeneCards Summary for CAPN1 Gene
CAPN1 (Calpain 1) is a Protein Coding gene. Diseases associated with CAPN1 include Spastic Paraplegia 76, Autosomal Recessive and Spastic Paraplegia 76. Among its related pathways are Arrhythmogenic right ventricular cardiomyopathy (ARVC) and Keratinization. GO annotations related to this gene include calcium ion binding and calcium-dependent cysteine-type endopeptidase activity. An important paralog of this gene is CAPN2.
UniProtKB/Swiss-Prot for CAPN1 Gene
Calcium-regulated non-lysosomal thiol-protease which catalyzes limited proteolysis of substrates involved in cytoskeletal remodeling and signal transduction.
Calpains are a group of calcium-sensitive cysteine proteases that are ubiquitously expressed in mammals. Structurally, calpains contain two subunits; an 80 kDa catalytic subunit and a 28 kDa regulatory subunit that functions as a chaperone to stabilize the 80 kDa structure.