CASQ1
entrez
844
canonical
uniprot
P31415
canonical
ensembl
ENSG00000143318
resolver
ensp
ENSP00000357057
resolver
ensp
ENSP00000624621
resolver
enst
ENST00000368078
resolver
enst
ENST00000954562
resolver
genesymbol
CASQ1
resolver
genesymbol_syn
CASQ
resolver
hgnc
HGNC:1512
resolver
uniprot
B1AKZ2
resolver
uniprot
B2R863
resolver
uniprot
Q8TBW7
resolver
uniprot_entry
CASQ1_HUMAN
resolver
uniprot_sec
B1AKZ2
resolver
uniprot_sec
B2R863
resolver
uniprot_sec
Q8TBW7
resolver
amino_acid_sequence
MSATDRMGPRAVPGLRLALLLLLVLGTPKSGVQGQEGLDFPEYDGVDRVINVNAKNYKNVFKKYEVLALLYHEPPEDDKASQRQFEMEELILELAAQVLEDKGVGFGLVDSEKDAAVAKKLGLTEVDSMYVFKGDEVIEYDGEFSADTIVEFLLDVLEDPVELIEGERELQAFENIEDEIKLIGYFKSKDSEHYKAFEDAAEEFHPYIPFFATFDSKVAKKLTLKLNEIDFYEAFMEEPVTIPDKPNSEEEIVNFVEEHRRSTLRKLKPESMYETWEDDMDGIHIVAFAEEADPDGFEFLETLKAVAQDNTENPDLSIIWIDPDDFPLLVPYWEKTFDIDLSAPQIGVVNVTDADSVWMEMDDEEDLPSAEELEDWLEDVLEGEINTEDDDDDDDD
uniprot
proteins
disease_involvement
DISEASE: Myopathy, vacuolar, with CASQ1 aggregates (VMCQA) [MIM:616231]: An autosomal dominant mild muscle disorder characterized by adult onset of muscle cramping and weakness as well as increased levels of serum creatine kinase. The disorder is not progressive, and some patients may be asymptomatic. {ECO:0000269|PubMed:25116801, ECO:0000269|PubMed:26136523, ECO:0000269|PubMed:27196359, ECO:0000269|PubMed:28895244}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Myopathy, tubular aggregate, 1 (TAM1) [MIM:160565]: A rare congenital myopathy characterized by regular arrays of membrane tubules on muscle biopsies without additional histopathological hallmarks. Tubular aggregates in muscle are structures of variable appearance consisting of an outer tubule containing either one or more microtubule-like structures or amorphous material. They may occur in a variety of circumstances, including inherited myopathies, alcohol- and drug-induced myopathies, exercise-induced cramps or muscle weakness. {ECO:0000269|PubMed:28895244}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Calsequestrin is a high-capacity, moderate affinity, calcium-binding protein and thus acts as an internal calcium store in muscle (PubMed:28895244). Calcium ions are bound by clusters of acidic residues at the protein surface, often at the interface between subunits. Can bind around 80 Ca(2+) ions (PubMed:28895244). Regulates the release of lumenal Ca(2+) via the calcium release channel RYR1; this plays an important role in triggering muscle contraction. Negatively regulates store-operated Ca(2+) entry (SOCE) activity (PubMed:27185316). {ECO:0000269|PubMed:22337878, ECO:0000269|PubMed:27185316, ECO:0000269|PubMed:28895244, ECO:0000303|PubMed:22337878}.
uniprot
proteins
mass_dalton
45160
uniprot
proteins
post_translational_modification
PTM: N-glycosylated. {ECO:0000250|UniProtKB:P07221}.
uniprot
proteins
protein_family
Calsequestrin family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
22337878
uniprot
proteins
pubmed
2321095
uniprot
proteins
pubmed
25116801
uniprot
proteins
pubmed
26136523
uniprot
proteins
pubmed
27185316
uniprot
proteins
pubmed
27196359
uniprot
proteins
pubmed
28895244
uniprot
proteins
pubmed
7945294
uniprot
proteins
sequence_length
396
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum {ECO:0000269|PubMed:27185316, ECO:0000269|PubMed:28895244}. Sarcoplasmic reticulum {ECO:0000269|PubMed:27196359}. Sarcoplasmic reticulum lumen {ECO:0000250|UniProtKB:P07221}. Sarcoplasmic reticulum membrane; Peripheral membrane protein; Lumenal side {ECO:0000250|UniProtKB:P07221}. Mitochondrion matrix {ECO:0000250|UniProtKB:O09165}. Note=This isoform of calsequestrin occurs in the sarcoplasmic reticulum's terminal cisternae luminal spaces of fast skeletal muscle cells. Preferentially forms linear and round aggregates in the endoplasmic reticulum (ER) of resting cells (PubMed:28895244). In a minority of cells, homogeneously detected in the ER lumen (PubMed:28895244). Colocalizes with STIM1 at endoplasmic reticulum in response to a depletion of intracellular calcium (PubMed:27185316). {ECO:0000250|UniProtKB:P07221, ECO:0000269|PubMed:27185316, ECO:0000269|PubMed:28895244}.
uniprot
proteins