CASQ1

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]

Description

Calsequestrin 1

Tissue specificity

Group enriched (skeletal muscle, tongue)

Subcell location

Nucleoplasm, Mitochondria

Predicted location

Intracellular

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Potential drug targets
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)
Transporters

Chromosome

1:q23.2 (160190575 - 160201886)

Ensembl ID

ENSG00000143318  (ver. 103.38)

Orthologs

Mouse Casq1: ENSMUSG00000007122

UniProt

P31415

neXtProt

NX_P31415

Human splice variants
Mouse splice variants