| Gene Symbol | CASQ1 |
|---|---|
| Entrez Gene | 844 |
| Alt Symbol | CASQ, PDIB1, VMCQA |
| Species | Human |
| Gene Type | protein-coding |
| Description | calsequestrin 1 (fast-twitch, skeletal muscle) |
| Other Description | calmitin|calmitine|calsequestrin, skeletal muscle isoform|calsequestrin-1 |
| Swissprots | Q8TBW7 B1AKZ2 P31415 B2R863 |
| Accessions | EAW52736 P31415 AA197256 AI141895 AK300713 BAG62390 AK313250 BAG36060 BC022289 AAH22289 BF574316 BX500008 DA766051 DQ891985 ABM82911 DQ895175 ABM86101 S73775 AAB32063 NM_001231 NP_001222 |
| Function | 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. {ECO:0000269|PubMed:22337878, ECO:0000303|PubMed:22337878}. |
| Subcellular Location | Sarcoplasmic reticulum lumen {ECO:0000250|UniProtKB:P07221}. Sarcoplasmic reticulum membrane; Peripheral membrane protein; Lumenal side {ECO:0000250|UniProtKB:P07221}. Mitochondrion matrix {ECO:0000250|UniProtKB:O09165}. Note=This isoform of calsequestrin occurs in the sarcoplasmic reticulum's terminal cisternae luminal spaces of fast skeletal muscle cells. {ECO:0000250|UniProtKB:P07221}. |