ENSMUSG00000001794


Mus musculus

Features
Gene ID: ENSMUSG00000001794
  
Biological name :Capns1
  
Synonyms : calpain small subunit 1 / Capns1
  
Possible biological names infered from orthology : P04632
  
Species: Mus musculus
  
Chr. number: 7
Strand: -1
Band: B1
Gene start: 30186936
Gene end: 30198811
  
Corresponding Affymetrix probe sets: 10561842 (MoGene1.0st)   1426400_a_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000103831
Ensembl peptide - ENSMUSP00000117951
Ensembl peptide - ENSMUSP00000001845
NCBI entrez gene - 12336     See in Manteia.
MGI - MGI:88266
RefSeq - XM_006539488
RefSeq - XM_011250420
RefSeq - NM_009795
RefSeq - XM_011250419
RefSeq Peptide - NP_033925
swissprot - A0A0R4J1C2
swissprot - A0A0R4IZW8
Ensembl - ENSMUSG00000001794
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 capns1aENSDARG00000035329Danio rerio
 capns1bENSDARG00000013804Danio rerio
 CAPNS1ENSG00000126247Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Capns2 / Q9D7J7 / Calpain small subunit 2 / Q96L46*ENSMUSG0000007814463
Gca / Q8VC88 / Grancalcin / P28676*ENSMUSG0000002689326
Sri / Q6P069 / Sorcin / P30626*ENSMUSG0000000316125
Pef1 / Q8BFY6 / Peflin / Q9UBV8* / penta-EF-hand domain containing 1*ENSMUSG0000002877922
Pdcd6 / P12815 / Programmed cell death protein 6 / O75340* / programmed cell death 6*ENSMUSG0000002157617


Protein motifs (from Interpro)
Interpro ID Name
 IPR002048  EF-hand domain
 IPR011992  EF-hand domain pair
 IPR018247  EF-Hand 1, calcium-binding site
 IPR029642  Calpain small subunit 1


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006508 proteolysis IEA
 cellular_componentGO:0005829 cytosol IEA
 cellular_componentGO:0016020 membrane IEA
 molecular_functionGO:0004198 calcium-dependent cysteine-type endopeptidase activity IEA
 molecular_functionGO:0005509 calcium ion binding IEA


Pathways (from Reactome)
Pathway description
Degradation of the extracellular matrix
Formation of the cornified envelope


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000267 abnormal cardiac development "aberrant formation or incomplete differentiation of the heart" [MGI:cls, J:53370]
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Allelic Composition: Il2rgtm1Cgn/Y
Genetic Background: involves: 129 * CB20

 MP:0001622 abnormal vasculogenesis "aberrant process of the initial establishment of the vascular network " [J:67296, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Il2rgtm1Cgn/Y
Genetic Background: involves: 129 * CB20

 MP:0001914 hemorrhage "loss of blood from the vascular compartment to the exterior or into nonvascular body space as a result of rupture or severance of the blood vessels" [Stedman s Medical Dictionary, 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Il2rgtm1Cgn/Y
Genetic Background: involves: 129 * CB20

 MP:0002753 dilated left ventricle "an expansion in the volume of the lower left chamber of the heart" [J:82859, pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]
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Allelic Composition: Slc13a5tm1.2Helf/Slc13a5+
Genetic Background: B6.Cg-Slc13a5tm1.2Helf

 MP:0002950 abnormal neural crest cell migration "defect in the dispersion of the transient and migratory group of cells that emerge from the dorsal region of the neural tube and migrate to many peripheral locations to form various tissues of the adult" [Principles of Neural Science , 3rd edition:ISBN 0-8385-8034-3]
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Allelic Composition: Il2rgtm1Cgn/Y
Genetic Background: involves: 129 * CB20

 MP:0003141 cardiac fibrosis "formation of fibrous tissue within the heart often resulting from inflammation or injury " [smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Slc13a5tm1.2Helf/Slc13a5+
Genetic Background: B6.Cg-Slc13a5tm1.2Helf

 MP:0003228 abnormal sinus venosus "malformation in the cavity at the caudal end of the embryonic cardiac tube in which the veins from the intra- and extraembryonic circulatory arcs unite; in the adult this becomes the portion of the right atrium known as the sinus of the vena cava" [smb:Susan M Bello, Mouse Genome Informatics Curator, J:93157]
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Allelic Composition: Il2rgtm1Cgn/Y
Genetic Background: involves: 129 * CB20

 MP:0003229 abnormal vitelline vasculature "malformation in the vessels of the yolk sac" [smb:Susan M Bello, Mouse Genome Informatics Curator, J:93257]
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Allelic Composition: Il2rgtm1Cgn/Y
Genetic Background: involves: 129 * CB20

 MP:0003921 abnormal left ventricle morphology "structural anomaly of the left lower chamber of the heart " [smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Slc13a5tm1.2Helf/Slc13a5+
Genetic Background: B6.Cg-Slc13a5tm1.2Helf

 MP:0004215 abnormal myocardial fiber physiology "anomaly in the function of the multinucleated muscle cells of the heart" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Slc13a5tm1.2Helf/Slc13a5+
Genetic Background: B6.Cg-Slc13a5tm1.2Helf

 MP:0004485 increased response of heart to induced stress "increase in severity of the physiological response of the heart to induced stress such as cardiac hypertrophy due to mechanical pressure overload from aortic banding" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Slc13a5tm1.2Helf/Slc13a5+
Genetic Background: B6.Cg-Slc13a5tm1.2Helf

 MP:0005140 decreased cardiac muscle contractility "inability or reduced ability of the heart muscle to shorten or to develop increased tension" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Slc13a5tm1.2Helf/Slc13a5+
Genetic Background: B6.Cg-Slc13a5tm1.2Helf

 MP:0005630 increased lung weight "greater than the normal state of the physical heaviness of the lung" [RGD:Rat Genome Database submission]
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Allelic Composition: Slc13a5tm1.2Helf/Slc13a5+
Genetic Background: B6.Cg-Slc13a5tm1.2Helf

 MP:0006138 congestive heart failure "the heart is unable to adequately pump blood throughout the body" [ncbi:Matthew Mailman, NCBI request, smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Slc13a5tm1.2Helf/Slc13a5+
Genetic Background: B6.Cg-Slc13a5tm1.2Helf

 MP:0006207 embryonic lethality during organogenesis "death anytime after embryo turning but before the completion of organogenesis (E9 to less than E14)" [smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Clcn3tm1.1Jrhm/Clcn3tm1.1Jrhm,Tg(Myh6-tTA)6Smbf/0,Tg(tetO-cre)3Jig/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * FVB/N

 MP:0009395 persistence of primitive erythrocytes "presence of increased numbers of nucleated red blood cells at stages when these cells are normally replaced by mature, enucleated, red blood cells" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Il2rgtm1Cgn/Y
Genetic Background: involves: 129 * CB20

 MP:0011092 complete embryonic lethality "death of all organisms of a given genotype in a population within the embryonic period prior to organogenesis (Mus: prior to E14)" [MGI:csmith]
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Allelic Composition: Cnbpm1Hrb/Cnbp+
Genetic Background: B6.129S4-Cnbpm1Hrb

 MP:0011098 complete embryonic lethality during organogenesis "death of all organisms of a given genotype in a population between embryo turning and the completion of organogenesis (Mus: E9 to less than E14)" [MGI:csmith]
Show

Allelic Composition: Il2rgtm1Cgn/Y
Genetic Background: involves: 129 * CB20

 MP:0011108 partial embryonic lethality during organogenesis "the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between embryo turning and the completion of organogenesis (Mus: E9 to less than E14)" [MGI:csmith]
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Allelic Composition: Kmt2atm2(MLLT3)Thr/Kmt2atm2(MLLT3)Thr
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB

Allelic Composition: Capns1tm2.1Pag/Capns1tm2.1Pag
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * SJL

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000024942 Capn1 / O35350 / Calpain-1 catalytic subunit / P07384* / calpain 1*  / complex
 ENSMUSG00000026509 Capn2 / O08529 / Calpain-2 catalytic subunit / P17655* / calpain 2*  / complex






 

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