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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.
Protein class

Disease related genes, Human disease related genes, Potential drug targets, Transporters

Predicted location

Intracellular

Single cell type specificity

Group enriched (Rod photoreceptor cells, Skeletal myocytes, Cardiomyocytes)

Immune cell specificity

Not detected in immune cells

Cell line specificity

Group enriched (BEWO, HDLM-2, RT4)

Interaction

Monomer; increases in response to a depletion of intracellular calcium (PubMed:27185316, PubMed:26136523). Homodimer (PubMed:27185316, PubMed:26136523, PubMed:28895244). Homotetramer and homopolymer. Can form linear homooligomers. Ca(2+) ions promote oligomerization. Interacts (via C-terminal end and preferentially with the monomeric form) with STIM1; this interaction increases in response to a depletion of intracellular calcium, decreases both STIM1 aggregation and clustering, interaction of STIM1 with ORAI1 and store-operated Ca(2+) entry (SOCE) activity (PubMed:27185316). Interacts with ASPH and TRDN (By similarity).

Molecular function

Muscle protein

More Types Infomation

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