CASQ1
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].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| calsequestrin 1 | MIM:114250 | Ensembl:ENSG00000143318 | HGNC:HGNC:1512 | PA26095 | 1q23.2 |
GO terms in CASQ1
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | IBA | GO:0005509 | calcium ion binding |
| MF | IDA | GO:0005509 | calcium ion binding |
| MF | IPI | GO:0005515 | protein binding |
| MF | IDA | GO:0042802 | identical protein binding |
| BP | IEA | GO:0007029 | endoplasmic reticulum organization |
| BP | IEA | GO:0007519 | skeletal muscle tissue development |
| BP | IEA | GO:0009408 | response to heat |
| BP | IEA | GO:0010033 | response to organic substance |
| BP | IBA | GO:0014809 | regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion |
| BP | ISS | GO:0014809 | regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion |
| BP | IEA | GO:0014894 | response to denervation involved in regulation of muscle adaptation |
| BP | TAS | GO:0034220 | ion transmembrane transport |
| BP | ISS | GO:0045214 | sarcomere organization |
| BP | IDA | GO:0051258 | protein polymerization |
| BP | IBA | GO:0051279 | regulation of release of sequestered calcium ion into cytosol |
| BP | IMP | GO:0051281 | positive regulation of release of sequestered calcium ion into cytosol |
| BP | IMP | GO:1901341 | positive regulation of store-operated calcium channel activity |
| BP | TAS | GO:1903779 | regulation of cardiac conduction |
| BP | IMP | GO:2001256 | regulation of store-operated calcium entry |
| CC | HDA | GO:0005739 | mitochondrion |
| CC | ISS | GO:0005759 | mitochondrial matrix |
| CC | IDA | GO:0005783 | endoplasmic reticulum |
| CC | TAS | GO:0005790 | smooth endoplasmic reticulum |
| CC | IEA | GO:0005794 | Golgi apparatus |
| CC | IEA | GO:0014804 | terminal cisterna lumen |
| CC | ISS | GO:0016529 | sarcoplasmic reticulum |
| CC | IBA | GO:0030018 | Z disc |
| CC | IEA | GO:0030315 | T-tubule |
| CC | IEA | GO:0031674 | I band |
| CC | TAS | GO:0033017 | sarcoplasmic reticulum membrane |
| CC | IBA | GO:0033018 | sarcoplasmic reticulum lumen |
| CC | ISS | GO:0033018 | sarcoplasmic reticulum lumen |
Gene expression in normal tissue: CASQ1
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in CASQ1
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| wikipathways | WP536 | Calcium Regulation in the Cardiac Cell |
| pharmgkb | PA2033 | Antiarrhythmic Pathway, Pharmacodynamics |
| reactome | R-HSA-2672351 | Stimuli-sensing channels |
| reactome | R-HSA-382551 | Transport of small molecules |
| reactome | R-HSA-397014 | Muscle contraction |
| reactome | R-HSA-5576891 | Cardiac conduction |
| reactome | R-HSA-5578775 | Ion homeostasis |
| reactome | R-HSA-983712 | Ion channel transport |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in CASQ1
CLASSFICATION
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