Property Summary

NCBI Gene PubMed Count 27
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 4.5e-04
glioblastoma -1.200 1.3e-02
medulloblastoma, large-cell -1.500 5.5e-04
primitive neuroectodermal tumor -1.600 4.8e-04
acute quadriplegic myopathy -1.900 1.2e-06
pediatric high grade glioma -1.100 7.0e-03
pilocytic astrocytoma -1.300 2.1e-04
psoriasis -1.400 1.4e-29

 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)
18452871 Observational study of gene-disease association. (HuGE Navigator)
18269685 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
17681849 Observational study of gene-disease association. (HuGE Navigator)
17681849 CASQ1 polymorphism is not associated with type 2 diabetes
17009399 Phospholamban in the human esophagus might be of less importance for regulation of SERCA than in heart. Lower expression of calsequestrin and calreticulin might contribute to increased lower esophageal sphincter pressure in achalasia.
15561963 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.
15561962 Observational study of gene-disease association. (HuGE Navigator)
15561962 Single nucleotide polymorphisms within CASQ1 were genotyped in Amish subjects with type 2 diabetes, glucose intolerance and normals.

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.
20833797 2011 Phosphoproteome analysis of functional mitochondria isolated from resting human muscle reveals extensive phosphorylation of inner membrane protein complexes and enzymes.
20682687 2010 Common variants in 40 genes assessed for diabetes incidence and response to metformin and lifestyle intervention in the diabetes prevention program.
18452871 2008 Polymorphisms in multiple genes are associated with resting heart rate in a stepwise allele-dependent manner.
18269685 2008 Type 2 diabetes susceptibility genes on chromosome 1q21-24.
17681849 2007 Studies of association of the CASQ1 rs2275703 polymorphism in relation to type 2 diabetes and related quantitative metabolic traits among 7,088 Danish whites.
17009399 2006 Reduced expression of Ca2+-regulating proteins in the upper gastrointestinal tract of patients with achalasia.
16710414 2006 The DNA sequence and biological annotation of human chromosome 1.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
15561963 2004 Calsquestrin 1 (CASQ1) gene polymorphisms under chromosome 1q21 linkage peak are associated with type 2 diabetes in Northern European Caucasians.
15561962 2004 Polymorphism in the calsequestrin 1 (CASQ1) gene on chromosome 1q21 is associated with type 2 diabetes in the old order Amish.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
9125222 1997 A drug inhibits the mitochondrial protease inducing calmitine deficiency in skeletal muscle of patients with Duchenne's muscular dystrophy and dy/dy dystrophic mice.
8660374 1996 Skeletal muscle of patients with Duchenne's muscular dystrophy: evidence of a mitochondrial proteolytic factor responsible for calmitine deficiency.
8406504 1993 Chromosome mapping of five human cardiac and skeletal muscle sarcoplasmic reticulum protein genes.
7945294 1994 Molecular cloning of human calmitine, a mitochondrial calcium binding protein, reveals identity with calsequestrine.
7666833 1995 Muscular degeneration in Duchenne's dystrophy may be caused by a mitochondrial defect.
7599203 1995 Role of the mitochondrial DNA and calmitine in myopathies.
2321095 1990 Characterization and localization to human chromosome 1 of human fast-twitch skeletal muscle calsequestrin gene.