Recombinant Human Calsequestrin-1 (CASQ1)

1. These results widen the spectrum of skeletal muscle diseases associated with CASQ1 and indicate that these mutations affect properties critical for correct Ca(2+) handling in skeletal muscle fibers. PMID: 28895244
2. the p.D244G variant in CASQ1 is associated with a skeletal muscle disease and alters sarcoplasmic calcium release PMID: 27196359
3. Calsequestrin-1 monomers suppress Store-Operated Ca2+ Entry by interacting with STIM1 and attenuating STIM1 aggregation via its C-terminal amino acid 362-396. PMID: 27185316
4. the protein aggregate myopathy with benign evolution and muscle inclusions composed of excess CASQ1 due to the D244G heterozygous missense mutation in the CASQ1 gene PMID: 26136523
5. Equilibrium dialysis and turbidity measurements showed that D244G and, to a lesser extent, M87T partially lose Ca(2+) binding exhibited by wild type calsequestrin 1 at high Ca(2+) concentrations. PMID: 26416891
6. Missense mutation in CASQ1 gene causes the formation of abnormal sarcoplasmic reticulum (SR) vacuoles containing aggregates of CASQ1 results in altered Ca2+ release, and vacuolar myopathy patients phenotype. PMID: 25116801
7. There is a significant association between SNP A175G and heat stroke. PMID: 24887214
8. The sarcoplasmic reticulum calcium content in human type II fibres is primarily determined by the CSQ1 abundance, and in type I fibres, by the combined amounts of both CSQ1 and CSQ2. PMID: 24127619
9. a direct interaction of dysferlin with Trim72/MG53, AHNAK, cytoplasmic dynein, myomesin-2 and calsequestrin-1, but not with caveolin-3 or dystrophin, is reported. PMID: 23792176
10. CASQ1 is not a major malignant hyperthermia susceptibility locus in the North American population PMID: 23460944
11. Downregulation of CSQ-1 in diabetic platelets and impairment of CSQ-1 in normal cells leads to disturbed Ca(2+) release, demonstrating a potential role for CSQ-1 in the regulation of the platelet Ca(2+) release process PMID: 22060633
12. a mechanism for the observed in vitro and in vivo dynamic high-capacity and low-affinity Ca(2+)-binding activity of calsequestrin PMID: 22337878
13. Single nucleotide polymorphisms within CASQ1 were genotyped in Amish subjects with type 2 diabetes, glucose intolerance and normals. PMID: 15561962
14. Noncoding single nucleotide polymorphisms in CASQ1 alter diabetes susceptibility, either by a direct effect on CASQ1 gene expression or perhaps by regulating a nearby gene. PMID: 15561963
15. CASQ1 polymorphism is not associated with type 2 diabetes PMID: 17681849

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HGNC: 1512

OMIM: 114250

KEGG: hsa:844

STRING: 9606.ENSP00000357057

UniGene: Hs.632476