CASQ1: Calsequestrin 1 – Key Regulator of Calcium Storage in Skeletal Muscle
Comprehensive genomic and proteomic overview of CASQ1, its role in calcium homeostasis, associated diseases, expression, and mutations.
Gene Information Card
| Symbol | CASQ1 |
|---|---|
| Full Name | Calsequestrin 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 1q23.2 |
| NCBI Gene ID | 844 ncbi.nlm.nih.gov/gene/844 |
| Ensembl ID | ENSG00000143314 |
| UniProt ID | P31415 |
| OMIM ID | 114250 |
| HGNC ID | 1512 |
| Aliases | CASQ, CSQ1, PDIB1 |
Description
CASQ1 encodes calsequestrin 1, a high-capacity, moderate-affinity calcium-binding protein located in the sarcoplasmic reticulum of skeletal muscle. It acts as a calcium reservoir, buffering free Ca2+ and releasing it during muscle contraction. CASQ1 also interacts with ryanodine receptors and triadin to regulate excitation-contraction coupling.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) | CASQ1 mutations impair calcium buffering, leading to diastolic Ca2+ leak and arrhythmias | ClinVar, OMIM |
| Malignant Hyperthermia Susceptibility | Altered CASQ1 function may exacerbate calcium release triggered by anesthetics | OMIM, NCBI |
| Myopathy with Tubular Aggregates | CASQ1 aggregation disrupts calcium homeostasis, causing muscle weakness | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skeletal muscle | 1245.2 | High |
| Heart | 12.3 | Low |
| Brain | 1.5 | Not detected |
| Liver | 0.8 | Not detected |
| Kidney | 2.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Skeletal muscle myocytes | 1245.2 | Primary cell type |
| Cardiomyocytes | 12.3 | Low expression |
| HEK 293 | 0.5 | Not endogenous |
| C2C12 myoblasts | 980.0 | Differentiated myotubes |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| p.Asp307His | Missense | Rare | Reduced calcium binding capacity |
| p.Arg33Cys | Missense | Rare | Impaired interaction with ryanodine receptor |
| p.Gly112Asp | Missense | Rare | Altered protein stability |
Mutation functional classification
Loss of Function (LOF)
Mutations such as p.Asp307His reduce calcium buffering capacity, leading to diastolic calcium leak and arrhythmias.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
Some missense variants may exert dominant-negative effects by disrupting CASQ1 polymerization and calcium storage.
View complete mutation data：
Gene Ontology (GO)
| • calcium ion binding | • sarcoplasmic reticulum lumen |
| • calcium ion storage | • excitation-contraction coupling |
| • muscle contraction |
Pathways
• Calcium signaling pathway
• Cardiac muscle contraction
• Skeletal muscle contraction
Protein Summary
Calsequestrin 1 is a 396-amino acid protein that polymerizes in the sarcoplasmic reticulum lumen to form a high-capacity calcium reservoir. It undergoes post-translational modifications including glycosylation and phosphorylation. The protein is essential for rapid calcium release during muscle contraction and protects against calcium overload.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CASQ1 Knockout HEK293 Cell Line | EDJ-KQ1579 | Human | 844 | Details Get a Quote |
| CASQ1 Knockout HeLa Cell Line | EDJ-KQ52790 | Human | 844 | Details Get a Quote |
| CASQ1 Knockout A-549 Cell Line | EDJ-KQ61260 | Human | 844 | Details Get a Quote |
| CASQ1 Knockout HCT 116 Cell Line | EDJ-KQ69756 | Human | 844 | Details Get a Quote |
