DISEASES

Disease-gene associations mined from literature

Literature on CASQ1

CASQ1 [ENSP00000357057]

Calsequestrin-1; Calsequestrin is a high-capacity, moderate affinity, calcium- binding protein and thus acts as an internal calcium store in muscle . Calcium ions are bound by clusters of acidic residues at the protein surface, often at the interface between subunits. Can bind around 80 Ca(2+) ions . Regulates the release of lumenal Ca(2+) via the calcium release channel RYR1; this plays an important role in triggering muscle contraction. Negatively regulates store-operated Ca(2+) entry (SOCE) activity . ECO:0000269|PubMed:27185316, ECO:0000269|PubMed:28895244,

Synonyms:  CASQ1,  CASQ1p,  hCASQ1,  C9JAC8,  P31415 ...

Linkouts:  STRING  Pharos  UniProt  OMIM