Gene
casq1a
- ID
- ZDB-GENE-040801-139
- Name
- calsequestrin 1a
- Symbol
- casq1a Nomenclature History
- Previous Names
-
- CSQ1 (1)
- zgc:100957
- Type
- protein_coding_gene
- Location
- Chr: 2 Mapping Details/Browsers
- Description
- Exhibits calcium ion binding activity. Predicted to be involved in regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion. Localizes to Z disc. Human ortholog(s) of this gene implicated in type 2 diabetes mellitus. Is expressed in myotome; skeletal muscle; and somite. Orthologous to human CASQ1 (calsequestrin 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 11 figures from 5 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:7147168 (6 images)
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Myopathy, vacuolar, with CASQ1 aggregates | 616231 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Calsequestrin | Calsequestrin, C-terminal TRX-fold domain | Calsequestrin, middle TRX-fold domain | Calsequestrin, N-terminal TRX-fold domain | Thioredoxin-like superfamily |
|---|---|---|---|---|---|---|
|
UniProtKB:A0A0R4IKE0
|
553 |
- Genome Browsers
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
casq1a-201
(1)
|
Ensembl | 2,979 nt | ||
| mRNA |
casq1a-202
(1)
|
Ensembl | 1,884 nt |
Interactions and Pathways
No data available
Plasmids
No data available