Property Summary

NCBI Gene PubMed Count 27
Grant Count 10
R01 Count 2
Funding $2,670,647.6
PubMed Score 81.00
PubTator Score 39.30

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (8)

Disease log2 FC p
group 3 medulloblastoma -2.300 0.000
glioblastoma -1.200 0.013
medulloblastoma, large-cell -1.500 0.001
primitive neuroectodermal tumor -1.600 0.000
acute quadriplegic myopathy -1.900 0.000
pediatric high grade glioma -1.100 0.007
pilocytic astrocytoma -1.300 0.000
psoriasis -1.400 0.000

 GO Function (1)

Gene RIF (18)

PMID Text
26416891 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.
26136523 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
25116801 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.
24887214 There is a significant association between SNP A175G and heat stroke.
24127619 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.
23792176 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.
23460944 CASQ1 is not a major malignant hyperthermia susceptibility locus in the North American population
22337878 a mechanism for the observed in vitro and in vivo dynamic high-capacity and low-affinity Ca(2+)-binding activity of calsequestrin
22060633 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
20682687 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
More...

AA Sequence

MSATDRMGPRAVPGLRLALLLLLVLGTPKSGVQGQEGLDFPEYDGVDRVINVNAKNYKNVFKKYEVLALL      1 - 70
YHEPPEDDKASQRQFEMEELILELAAQVLEDKGVGFGLVDSEKDAAVAKKLGLTEVDSMYVFKGDEVIEY     71 - 140
DGEFSADTIVEFLLDVLEDPVELIEGERELQAFENIEDEIKLIGYFKSKDSEHYKAFEDAAEEFHPYIPF    141 - 210
FATFDSKVAKKLTLKLNEIDFYEAFMEEPVTIPDKPNSEEEIVNFVEEHRRSTLRKLKPESMYETWEDDM    211 - 280
DGIHIVAFAEEADPDGFEFLETLKAVAQDNTENPDLSIIWIDPDDFPLLVPYWEKTFDIDLSAPQIGVVN    281 - 350
VTDADSVWMEMDDEEDLPSAEELEDWLEDVLEGEINTEDDDDDDDD                            351 - 396
//

Text Mined References (30)

PMID Year Title
27196359 2016 A Calsequestrin-1 Mutation Associated with a Skeletal Muscle Disease Alters Sarcoplasmic Ca2+ Release.
26416891 2015 Characterization of Two Human Skeletal Calsequestrin Mutants Implicated in Malignant Hyperthermia and Vacuolar Aggregate Myopathy.
26136523 2015 A CASQ1 founder mutation in three Italian families with protein aggregate myopathy and hyperCKaemia.
25116801 2014 A mutation in the CASQ1 gene causes a vacuolar myopathy with accumulation of sarcoplasmic reticulum protein aggregates.
24887214 2014 An association study of CASQ1 gene polymorphisms and heat stroke.
24127619 2013 Endogenous and maximal sarcoplasmic reticulum calcium content and calsequestrin expression in type I and type II human skeletal muscle fibres.
23792176 2013 Dysferlin interacts with calsequestrin-1, myomesin-2 and dynein in human skeletal muscle.
23460944 2013 CASQ1 gene is an unlikely candidate for malignant hyperthermia susceptibility in the North American population.
22337878 2012 High-capacity Ca2+ binding of human skeletal calsequestrin.
22060633 2012 Potential regulatory role of calsequestrin in platelet Ca(2+) homeostasis and its association with platelet hyperactivity in diabetes mellitus.
More...