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. Is expressed in myotome; skeletal muscle; and somite. Human ortholog(s) of this gene implicated in type 2 diabetes mellitus. Orthologous to human CASQ1 (calsequestrin 1).
Genome Resources
Note
None
Expression
All Expression Data
9 figures from 4 publications
Cross-Species Comparison
High Throughput Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
No data available
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With casq1a Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
Myopathy, vacuolar, with CASQ1 aggregates 616231
Associated With casq1a Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Domain IPR041858 Calsequestrin, middle TRX-fold domain
Domain IPR041859 Calsequestrin, N-terminal TRX-fold domain
Domain IPR041860 Calsequestrin, C-terminal TRX-fold domain
Family IPR001393 Calsequestrin
Homologous_superfamily IPR036249 Thioredoxin-like superfamily
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:F1QXT6 539
UniProtKB:F1QNI9 282
UniProtKB:A0A0R4IKE0 553
UniProtKB:Q6DC34 277
UniProtKB:Q7T138 579
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Ensembl Gene Tree
Citations