CASQ1

GENE INFORMATION

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Gene name

CASQ1 (HGNC Symbol)

Synonyms

CASQ, PDIB1

Description

Calsequestrin 1 (fast-twitch, skeletal muscle) (HGNC Symbol)

Entrez gene summary

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]

Chromosome

1

Cytoband

q23.2

Chromosome location (bp)

160160285 - 160171676

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000143318 (version 75.37)

Entrez gene

844

UniProt

P31415 (UniProt - Evidence at protein level)

neXtProt

NX_P31415

Antibodypedia

CASQ1 antibodies
 

PROTEIN VIEW

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CASQ1-001
 
CASQ1-003
 
CASQ1-201
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

CASQ1-001 ENSP00000357057
ENST00000368078
P31415
Show all »
Show » Show » 396 45.2 Yes 0
CASQ1-003 ENSP00000418051
ENST00000467691
C9JAC8
Show all »
Show » Show » 117 13.3 No 0
CASQ1-201 ENSP00000357058
ENST00000368079
P31415
Show all »
Show » Show » 390 44.5 Yes 0