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].
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Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
Namecalsequestrin 1 OMIM IDMIM:114250 Ensembl IDEnsembl:ENSG00000143318 HGNC IDHGNC:HGNC:1512 PHARMGKB IDPA26095 Map Location1q23.2 | |||||
GO terms in CASQ1
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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 |
Gene expression in normal tissue: CASQ1
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in CASQ1
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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 |
Gene-Drug: Aster Plot
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Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD68 | Paclitaxel | 1 |
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Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in CASQ1
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Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
CLASSFICATION
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