Homo sapiens Protein: CASQ1
Summary
InnateDB Protein IDBP-104007.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol CASQ1
Protein Name calsequestrin 1 (fast-twitch, skeletal muscle)
Synonyms CASQ; PDIB1;
Species Homo sapiens
Ensembl Protein ENSP00000357057
InnateDB Gene IDBG-104003 (CASQ1)
Protein Structure
UniProt Annotation
Function Calsequestrin is a high-capacity, moderate affinity, calcium-binding protein and thus acts as an internal calcium store in muscle. The release of calcium bound to calsequestrin through a calcium release channel triggers muscle contraction. The skeletal muscle isoform (CASQ1) binds around 80 Ca(2+) ions, while the cardiac isoform (CASQ2) binds approximately 60 Ca(2+).
Subcellular Localization Sarcoplasmic reticulum lumen. Mitochondrion. Note=This isoform of calsequestrin occurs in the sarcoplasmic reticulum's terminal cisternae luminal spaces of fast skeletal muscle cells. Also mitochondrial according to PubMed:7945294.
Disease Associations
Tissue Specificity
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
Gene Ontology

Molecular Function
Accession GO Term
GO:0005509 calcium ion binding
Biological Process
GO:0007029 endoplasmic reticulum organization
GO:0007519 skeletal muscle tissue development
GO:0009408 response to heat
GO:0010033 response to organic substance
GO:0010880 regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum
GO:0014809 regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion
GO:0014870 response to muscle inactivity
GO:0014894 response to denervation involved in regulation of muscle adaptation
GO:0034220 ion transmembrane transport
GO:0051282 regulation of sequestering of calcium ion
GO:0055085 transmembrane transport
Cellular Component
GO:0005737 cytoplasm
GO:0005739 mitochondrion
GO:0005759 mitochondrial matrix
GO:0005783 endoplasmic reticulum
GO:0005790 smooth endoplasmic reticulum
GO:0005794 Golgi apparatus
GO:0014802 terminal cisterna
GO:0014804 terminal cisterna lumen
GO:0016529 sarcoplasmic reticulum
GO:0030016 myofibril
GO:0030315 T-tubule
GO:0031674 I band
GO:0033017 sarcoplasmic reticulum membrane
GO:0033018 sarcoplasmic reticulum lumen
GO:0042383 sarcolemma
GO:0043231 intracellular membrane-bounded organelle
Protein Structure and Domains
PDB ID
InterPro IPR001393 Calsequestrin
IPR012336 Thioredoxin-like fold
PFAM PF01216
PF13098
PF13192
PF13462
PF13905
PRINTS PR00312
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt P31415
PhosphoSite PhosphoSite-P31415
TrEMBL C9JAC8
UniProt Splice Variant
Entrez Gene 844
UniGene Hs.632476
RefSeq NP_001222
HUGO HGNC:1512
OMIM 114250
CCDS CCDS1198
HPRD 15915
IMGT
EMBL AK313250 AL121987 BC022289 CH471121 S73775
GenPept AAB32063 AAH22289 BAG36060 CAI15276 EAW52736