Aliases for CAPNS1 Gene
External Ids for CAPNS1 Gene
Previous HGNC Symbols for CAPNS1 Gene
Previous GeneCards Identifiers for CAPNS1 Gene
This gene is a member of the calpain small subunit family. Calpains are calcium-dependent cysteine proteinases that are widely distributed in mammalian cells. Calpains operate as heterodimers, comprising a specific large catalytic subunit (calpain 1 subunit in Calpain I, and calpain 2 subunit in Calpain II), and a common small regulatory subunit encoded by this gene. This encoded protein is essential for the stability and function of both calpain heterodimers, whose proteolytic activities influence various cellular functions including apoptosis, proliferation, migration, adhesion, and autophagy. Calpains have been implicated in neurodegenerative processes, such as myotonic dystrophy. A pseudogene of this gene has been defined on chromosome 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]
GeneCards Summary for CAPNS1 Gene
CAPNS1 (Calpain Small Subunit 1) is a Protein Coding gene. Diseases associated with CAPNS1 include Ulcer Of Lower Limbs and Coffin-Siris Syndrome 1. Among its related pathways are B Cell Receptor Signaling Pathway (sino) and Degradation of the extracellular matrix. Gene Ontology (GO) annotations related to this gene include calcium ion binding and calcium-dependent cysteine-type endopeptidase activity. An important paralog of this gene is CAPNS2.
UniProtKB/Swiss-Prot Summary for CAPNS1 Gene
Regulatory subunit of the 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.