CASQ1

Gene Information

Official Symbol: CASQ1
Official Name: calsequestrin 1
Aliases and Previous Symbols: N/A
Entrez ID: 844
UniProt: P31415
Interactions: BioGRID
PubMed articles: Open PubMed
OMIM: Open OMIM

Function Summary

Entrez Summary: This gene encodes the skeletal muscle specific member of the calsequestrin protein family. Calsequestrin functions as a luminal sarcoplasmic reticulum calcium sensor in both cardiac and skeletal muscle cells. This protein, also known as calmitine, functions as a calcium regulator in the mitochondria of skeletal muscle. This protein is absent in patients with Duchenne and Becker types of muscular dystrophy. [provided by RefSeq, Jun 2013].
UniProt Summary: Calsequestrin is a high-capacity, moderate affinity, calcium-binding protein and thus acts as an internal calcium store in muscle (PubMed:28895244). 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 (PubMed:28895244). 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 (PubMed:27185316). {ECO:0000269|PubMed:22337878, ECO:0000269|PubMed:27185316, ECO:0000269|PubMed:28895244, ECO:0000303|PubMed:22337878}.

Pfam Domains GO Terms

CRISPR Data

Compound Hit Most Correlated Genes in Chemogenomics Tissues where Essential in the Avana Dataset (DepMap 20Q1)

Global Fraction of Cell Lines Where Essential: 0/739

Tissue	Fraction Of Cell Lines Where Essential
1290807.0	0/1
909776.0	0/1
bile duct	0/28
blood	0/28
bone	0/26
breast	0/33
central nervous system	0/56
cervix	0/4
colorectal	0/17
esophagus	0/13
fibroblast	0/1
gastric	0/16
kidney	0/21
liver	0/20
lung	0/75
lymphocyte	0/16
ovary	0/26
pancreas	0/24
peripheral nervous system	0/16
plasma cell	0/15
prostate	0/1
skin	0/24
soft tissue	0/9
thyroid	0/2
upper aerodigestive	0/22
urinary tract	0/29
uterus	0/5

Essentiality in NALM6

Essentiality Rank: 10678
Expression level (log2 read counts): -0.29

Expression Distribution

terminal cisterna lumen
regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion
regulation of skeletal muscle contraction by calcium ion signaling
positive regulation of store-operated calcium channel activity
sarcoplasmic reticulum lumen
regulation of store-operated calcium channel activity
response to denervation involved in regulation of muscle adaptation
response to muscle inactivity involved in regulation of muscle adaptation
response to muscle inactivity
regulation of skeletal muscle contraction
regulation of store-operated calcium entry
response to inactivity
response to stimulus involved in regulation of muscle adaptation
smooth endoplasmic reticulum
regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum
sarcoplasmic reticulum membrane
positive regulation of calcium ion transmembrane transporter activity
positive regulation of release of sequestered calcium ion into cytosol
T-tubule
sarcoplasmic reticulum
sarcomere organization
positive regulation of calcium ion transport into cytosol
endoplasmic reticulum organization
myofibril assembly
regulation of cardiac conduction
positive regulation of cation channel activity
positive regulation of calcium ion transmembrane transport
regulation of release of sequestered calcium ion into cytosol
regulation of muscle adaptation
protein polymerization
regulation of calcium ion transmembrane transporter activity
regulation of striated muscle contraction
regulation of calcium ion transport into cytosol
cellular component assembly involved in morphogenesis
positive regulation of ion transmembrane transporter activity
response to heat
positive regulation of transporter activity
actomyosin structure organization
positive regulation of calcium ion transport
skeletal muscle tissue development