CASQ1 Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | CASQ1 |
| Official Name | calsequestrin 1 [Source:HGNC Symbol;Acc:HGNC:1512] |
| Ensembl ID | ENSG00000143318 |
| Bio databases IDs | |
| Aliases | calsequestrin 1, calsequestrin 1, fast-twitch, skeletal muscle, calmitine |
| Synonyms | CALSEQUESTRIN 1, Calsequestrin S, CASQ, CSQ, CSQ-1, LOC679341, PDIB1, sCSQ, VMCQA |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human CASQ1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Calsequestrin
- thioredoxin-like domain
- Protein Disulfide Oxidoreductases and Other Proteins with a Thioredoxin fold
- calcium ion binding
- protein binding
- identical protein binding
Pathways
Biological processes and signaling networks where the CASQ1 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- bipolar disorder
- Huntington disease
- X-linked bulbospinal atrophy
- vacuolar myopathy with CASQ1 aggregates
- tubular aggregate myopathy
role in cell
- quantity
- expansion
- organization
- expansion in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- cellular membrane
- vacuole
- sarcoplasmic reticulum
- Endoplasmic Reticulum
- mitochondrial matrix
- myofibrils
- I band
- sarcolemma
- smooth endoplasmatic reticulum
- transverse tubules
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human CASQ1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- response to denervation involved in regulation of muscle adaptation
- protein polymerization
- response to heat
- regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion
- skeletal muscle tissue development
- sarcomere organization
- positive regulation of release of sequestered calcium ion into cytosol
- endoplasmic reticulum organization
- regulation of store-operated calcium entry
Cellular Component
Where in the cell the gene product is active
- Z disc
- T-tubule
- sarcoplasmic reticulum
- mitochondrial matrix
- smooth endoplasmic reticulum
- mitochondrion
- terminal cisterna lumen
- endoplasmic reticulum
- sarcoplasmic reticulum lumen
- sarcoplasmic reticulum membrane
Molecular Function
What the gene product does at the molecular level
- identical protein binding
- protein binding
- calcium ion binding