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].

calsequestrin 1MIM:114250Ensembl:ENSG00000143318HGNC:HGNC:1512PA260951q23.2

GO terms in CASQ1

Term TypeEvidence TypeGO Term IDGO Des.
MFIBAGO:0005509calcium ion binding
MFIDAGO:0005509calcium ion binding
MFIPIGO:0005515protein binding
MFIDAGO:0042802identical protein binding
BPIEAGO:0007029endoplasmic reticulum organization
BPIEAGO:0007519skeletal muscle tissue development
BPIEAGO:0009408response to heat
BPIEAGO:0010033response to organic substance
BPIBAGO:0014809regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion
BPISSGO:0014809regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion
BPIEAGO:0014894response to denervation involved in regulation of muscle adaptation
BPTASGO:0034220ion transmembrane transport
BPISSGO:0045214sarcomere organization
BPIDAGO:0051258protein polymerization
BPIBAGO:0051279regulation of release of sequestered calcium ion into cytosol
BPIMPGO:0051281positive regulation of release of sequestered calcium ion into cytosol
BPIMPGO:1901341positive regulation of store-operated calcium channel activity
BPTASGO:1903779regulation of cardiac conduction
BPIMPGO:2001256regulation of store-operated calcium entry
CCISSGO:0005759mitochondrial matrix
CCIDAGO:0005783endoplasmic reticulum
CCTASGO:0005790smooth endoplasmic reticulum
CCIEAGO:0005794Golgi apparatus
CCIEAGO:0014804terminal cisterna lumen
CCISSGO:0016529sarcoplasmic reticulum
CCIBAGO:0030018Z disc
CCIEAGO:0031674I band
CCTASGO:0033017sarcoplasmic reticulum membrane
CCIBAGO:0033018sarcoplasmic reticulum lumen
CCISSGO:0033018sarcoplasmic reticulum lumen

Gene expression in normal tissue: CASQ1

Gene-model tissue-cancer distribution: Bubble Plot

Gene-drug pathway distribution

Pathways in CASQ1

DatabasePathway IDPathway Des.
wikipathwaysWP536Calcium Regulation in the Cardiac Cell
pharmgkbPA2033Antiarrhythmic Pathway, Pharmacodynamics
reactomeR-HSA-2672351Stimuli-sensing channels
reactomeR-HSA-382551Transport of small molecules
reactomeR-HSA-397014Muscle contraction
reactomeR-HSA-5576891Cardiac conduction
reactomeR-HSA-5578775Ion homeostasis
reactomeR-HSA-983712Ion channel transport

Gene-Drug: Aster Plot

Drug IDDrug NameModel Num.

Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in CASQ1