ENSMUSG00000007122


Mus musculus

Features
Gene ID: ENSMUSG00000007122
  
Biological name :Casq1
  
Synonyms : Calsequestrin-1 / Casq1 / O09165
  
Possible biological names infered from orthology : P31415
  
Species: Mus musculus
  
Chr. number: 1
Strand: -1
Band: H3
Gene start: 172209894
Gene end: 172219868
  
Corresponding Affymetrix probe sets: 10360235 (MoGene1.0st)   1422598_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000129647
Ensembl peptide - ENSMUSP00000003554
NCBI entrez gene - 12372     See in Manteia.
MGI - MGI:1309468
RefSeq - NM_009813
RefSeq Peptide - NP_033943
swissprot - E9Q489
swissprot - O09165
Ensembl - ENSMUSG00000007122
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 casq1aENSDARG00000038716Danio rerio
 casq1bENSDARG00000018105Danio rerio
 CASQ1ENSG00000143318Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Casq2 / O09161 / Mus musculus calsequestrin 2 (Casq2), transcript variant 1, mRNA. / O14958* / calsequestrin 2*ENSMUSG0000002786162


Protein motifs (from Interpro)
Interpro ID Name
 IPR001393  Calsequestrin
 IPR018233  Calsequestrin, conserved site
 IPR036249  Thioredoxin-like superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006937 regulation of muscle contraction TAS
 biological_processGO:0007029 endoplasmic reticulum organization IMP
 biological_processGO:0007519 skeletal muscle tissue development IEA
 biological_processGO:0009408 response to heat IMP
 biological_processGO:0010033 response to organic substance IEA
 biological_processGO:0010880 regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum IMP
 biological_processGO:0014809 regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion IMP
 biological_processGO:0014870 response to muscle inactivity IEA
 biological_processGO:0014894 response to denervation involved in regulation of muscle adaptation IEA
 biological_processGO:0045214 sarcomere organization IMP
 biological_processGO:0051258 protein polymerization IEA
 biological_processGO:0051281 positive regulation of release of sequestered calcium ion into cytosol IEA
 biological_processGO:0051282 regulation of sequestering of calcium ion IEA
 biological_processGO:1901341 positive regulation of store-operated calcium channel activity IEA
 biological_processGO:2001256 regulation of store-operated calcium entry IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005739 mitochondrion IDA
 cellular_componentGO:0005759 mitochondrial matrix IEA
 cellular_componentGO:0005783 endoplasmic reticulum ISO
 cellular_componentGO:0005794 Golgi apparatus IEA
 cellular_componentGO:0014802 terminal cisterna IEA
 cellular_componentGO:0014804 terminal cisterna lumen IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016529 sarcoplasmic reticulum TAS
 cellular_componentGO:0030016 myofibril IEA
 cellular_componentGO:0030315 T-tubule IEA
 cellular_componentGO:0031674 I band IEA
 cellular_componentGO:0033017 sarcoplasmic reticulum membrane IEA
 cellular_componentGO:0033018 sarcoplasmic reticulum lumen IEA
 cellular_componentGO:0042383 sarcolemma IEA
 cellular_componentGO:0043231 intracellular membrane-bounded organelle IEA
 molecular_functionGO:0005509 calcium ion binding IEA
 molecular_functionGO:0042802 identical protein binding IEA
 molecular_functionGO:0046872 metal ion binding IEA


Pathways (from Reactome)
Pathway description
Stimuli-sensing channels
Ion homeostasis


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0001262 decreased body weight "lower than normal average weight " [J:61295]
Show

Allelic Composition: Cxadrtm2Know/Cxadr+
Genetic Background: involves: 129 * Black Swiss

 MP:0002106 abnormal muscle physiology "anomolous function of the muscle, not due to an anatomical defect" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Cxadrtm2Know/Cxadr+
Genetic Background: involves: 129 * Black Swiss

 MP:0002269 muscular atrophy "a wasting of muscle tissue resulting in a derangement of the muscle fibers; occurs with age, immobilization, weightlessness, malnutrition or denervation" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, cml:Cathleen M. Lutz , Mouse Genome Informatics Curator]
Show

Allelic Composition: Cxadrtm2Know/Cxadr+
Genetic Background: involves: 129 * Black Swiss

 MP:0002841 impaired skeletal muscle contractility "inability or reduced ability of the skeletal muscle to shorten or to develop increased tension" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]
Show

Allelic Composition: Cxadrtm2Know/Cxadr+
Genetic Background: involves: 129 * Black Swiss

 MP:0002968 increased circulating alkaline phosphatase level "elevated activity of this enzyme, which hydrolyzes orthophosphoric monoesters, found in the blood" [RGD:Rat Genome Database submission, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Aspatm1b(EUCOMM)Wtsi/Aspatm1b(EUCOMM)Wtsi
Genetic Background: C57BL/6N-Aspatm1b(EUCOMM)Wtsi/Ieg

 MP:0003084 abnormal skeletal muscle fiber morphology "anomalous structure of the skeletal muscle fibers, the large multinucleated cells that make up the skeletal muscles" [smb:Susan M. Bello, Mouse Genome Informatics Curator, Stedman s Medical Dictionary, 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Cxadrtm2Know/Cxadr+
Genetic Background: involves: 129 * Black Swiss

 MP:0003131 increased erythrocyte count "greater number of the cells in the blood that carry oxygen, red blood cells, per unit" [csmith:Cynthia L. Smith, Mouse Genome Informatics Curator]
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Allelic Composition: Aspatm1b(EUCOMM)Wtsi/Aspatm1b(EUCOMM)Wtsi
Genetic Background: C57BL/6N-Aspatm1b(EUCOMM)Wtsi/Ieg

 MP:0003157 impaired muscle relaxation "reduced or absent ability of muscle to lengthen following contractions" [smb:Susan M Bello, Mouse Genome Informatics Curator, J:92510]
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Allelic Composition: Cxadrtm2Know/Cxadr+
Genetic Background: involves: 129 * Black Swiss

 MP:0004088 abnormal sarcoplasmic reticulum morphology "any structural abnormality in the endoplasmic reticulum of skeletal and cardiac muscle, i.e. the complex of vesicles, tubules, and cisternae that form a continuous structure around striated myofibrils, with a repetition of structure within each sarcomere " [anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator]
Show

Allelic Composition: Cxadrtm2Know/Cxadr+
Genetic Background: involves: 129 * Black Swiss

 MP:0004090 abnormal sarcomere morphology "any structural abnormality in the segment of a myofibril between two Z lines comprised of multi-protein complexes composed of three different filament systems; these systems work together to contract and relax muscle" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator]
Show

Allelic Composition: Cxadrtm2Know/Cxadr+
Genetic Background: involves: 129 * Black Swiss

 MP:0004145 abnormal muscle electrophysiology "anomaly in the function of the musculature as it relates to electrical phenomena" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Cxadrtm2Know/Cxadr+
Genetic Background: involves: 129 * Black Swiss

 MP:0005554 decreased circulating creatinine level "less than the normal blood concentration of this product of creatine catabolism; abnormal levels indicative of renal dysfunction" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, RGD:Rat Genome Database submission]
Show

Allelic Composition: Aspatm1b(EUCOMM)Wtsi/Aspatm1b(EUCOMM)Wtsi
Genetic Background: C57BL/6N-Aspatm1b(EUCOMM)Wtsi/Ieg

 MP:0005564 increased hemoglobin content "increase in the total hemoglobin content in the circulating blood" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, RGD:Rat Genome Database submission]
Show

Allelic Composition: Aspatm1b(EUCOMM)Wtsi/Aspatm1b(EUCOMM)Wtsi
Genetic Background: C57BL/6N-Aspatm1b(EUCOMM)Wtsi/Ieg

 MP:0005568 increased circulating total protein level "greater than the average total concentration of these macromolecules in the blood " [RGD:Rat Genome Database submission]
Show

Allelic Composition: Aspatm1b(EUCOMM)Wtsi/Aspatm1b(EUCOMM)Wtsi
Genetic Background: C57BL/6N-Aspatm1b(EUCOMM)Wtsi/Ieg

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000007122 Casq1 / O09165 / Calsequestrin-1 / P31415*  / -






 

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