ENSMUSG00000079110


Mus musculus

Features
Gene ID: ENSMUSG00000079110
  
Biological name :Capn3
  
Synonyms : Calpain-3 / Capn3 / Q64691
  
Possible biological names infered from orthology : P20807
  
Species: Mus musculus
  
Chr. number: 2
Strand: 1
Band: E5
Gene start: 120456019
Gene end: 120504913
  
Corresponding Affymetrix probe sets: 10475144 (MoGene1.0st)   1426043_a_at (Mouse Genome 430 2.0 Array)   1433681_x_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000087482
Ensembl peptide - ENSMUSP00000106349
Ensembl peptide - ENSMUSP00000106347
Ensembl peptide - ENSMUSP00000106344
Ensembl peptide - ENSMUSP00000028748
Ensembl peptide - ENSMUSP00000028749
NCBI entrez gene - 12335     See in Manteia.
MGI - MGI:107437
RefSeq - NM_001109761
RefSeq - NM_001177799
RefSeq - NM_007601
RefSeq Peptide - NP_001171270
RefSeq Peptide - NP_031627
RefSeq Peptide - NP_001103231
swissprot - Q64691
swissprot - A2AVV6
swissprot - A2AVV5
swissprot - Q0VGP9
swissprot - A2AVV7
Ensembl - ENSMUSG00000079110
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 capn3aENSDARG00000041864Danio rerio
 capn3bENSDARG00000043035Danio rerio
 CAPN3ENSGALG00000009050Gallus gallus
 CAPN3ENSG00000092529Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Capn9 / Q9D805 / Calpain-9 / O14815*ENSMUSG0000003198146
Capn1 / O35350 / Calpain-1 catalytic subunit / P07384* / calpain 1*ENSMUSG0000002494245
Capn2 / O08529 / Calpain-2 catalytic subunit / P17655* / calpain 2*ENSMUSG0000002650943
Capn8 / Q91VA3 / Calpain-8 / A6NHC0*ENSMUSG0000003859942
Capn11 / Q6J756 / Calpain-11 / Q9UMQ6*ENSMUSG0000005862640
Capn12 / calpain 12 / Q6ZSI9*ENSMUSG0000005408333
Capn5 / O08688 / Calpain-5 / O15484*ENSMUSG0000003554728
Capn13 / Q3UW68 / Calpain-13 / Q6MZZ7*ENSMUSG0000004370526
Capn6 / O35646 / Calpain-6 / Q9Y6Q1*ENSMUSG0000006727624


Protein motifs (from Interpro)
Interpro ID Name
 IPR000169  Cysteine peptidase, cysteine active site
 IPR001300  Peptidase C2, calpain, catalytic domain
 IPR002048  EF-hand domain
 IPR011992  EF-hand domain pair
 IPR018247  EF-Hand 1, calcium-binding site
 IPR022682  Peptidase C2, calpain, large subunit, domain III
 IPR022683  Peptidase C2, calpain, domain III
 IPR022684  Peptidase C2, calpain family
 IPR029531  Calpain-3
 IPR033883  Calpain subdomain III
 IPR036213  Calpain large subunit, domain III superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006508 proteolysis IEA
 biological_processGO:0012501 programmed cell death IDA
 biological_processGO:0014718 positive regulation of satellite cell activation involved in skeletal muscle regeneration IDA
 biological_processGO:0014850 response to muscle activity ISS
 biological_processGO:0030239 myofibril assembly IMP
 biological_processGO:0033234 negative regulation of protein sumoylation ISO
 biological_processGO:0043066 negative regulation of apoptotic process IMP
 biological_processGO:0043122 regulation of I-kappaB kinase/NF-kappaB signaling IMP
 biological_processGO:0045214 sarcomere organization IEA
 biological_processGO:0045661 regulation of myoblast differentiation IDA
 biological_processGO:0045862 positive regulation of proteolysis IDA
 biological_processGO:0045892 negative regulation of transcription, DNA-templated IDA
 biological_processGO:0045893 positive regulation of transcription, DNA-templated IMP
 biological_processGO:0050790 regulation of catalytic activity ISS
 biological_processGO:0051092 positive regulation of NF-kappaB transcription factor activity IMP
 biological_processGO:0051281 positive regulation of release of sequestered calcium ion into cytosol IMP
 biological_processGO:0051592 response to calcium ion ISS
 biological_processGO:0061061 muscle structure development IMP
 biological_processGO:0065003 protein-containing complex assembly IMP
 biological_processGO:0070315 G1 to G0 transition involved in cell differentiation IDA
 biological_processGO:0071277 cellular response to calcium ion IDA
 biological_processGO:0071472 cellular response to salt stress IDA
 biological_processGO:0072657 protein localization to membrane IMP
 biological_processGO:0097264 self proteolysis ISO
 biological_processGO:2001015 negative regulation of skeletal muscle cell differentiation IMP
 cellular_componentGO:0005622 intracellular IEA
 cellular_componentGO:0005634 nucleus ISO
 cellular_componentGO:0005737 cytoplasm ISS
 cellular_componentGO:0005829 cytosol IDA
 cellular_componentGO:0005886 plasma membrane IDA
 cellular_componentGO:0030016 myofibril ISS
 cellular_componentGO:0030018 Z disc ISS
 cellular_componentGO:0030315 T-tubule ISS
 cellular_componentGO:0032991 protein-containing complex IDA
 molecular_functionGO:0003824 catalytic activity ISO
 molecular_functionGO:0004198 calcium-dependent cysteine-type endopeptidase activity IEA
 molecular_functionGO:0005509 calcium ion binding IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008233 peptidase activity IEA
 molecular_functionGO:0008234 cysteine-type peptidase activity IEA
 molecular_functionGO:0008307 structural constituent of muscle IMP
 molecular_functionGO:0016787 hydrolase activity IEA
 molecular_functionGO:0031402 sodium ion binding IDA
 molecular_functionGO:0031432 titin binding ISS
 molecular_functionGO:0032947 protein-containing complex scaffold activity IMP
 molecular_functionGO:0046872 metal ion binding IEA
 molecular_functionGO:0055103 ligase regulator activity ISO


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


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000752 dystrophic muscle "progressive weakness and wasting of muscle" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:67994]
Show

Allelic Composition: Cyp19a1tm1Sih/Cyp19a1tm1Sih
Genetic Background: involves: 129S/SvEv

Allelic Composition: Capn3tm1.1Hiso/Capn3tm1.1Hiso
Genetic Background: B6.129P2-Capn3tm1.1Hiso

Allelic Composition: Capn3tm1Jsb/Capn3+,Ttntm1.1Isrd/Ttntm1.1Isrd
Genetic Background: involves: 129/Sv * 129S2/SvPas * C57BL/6

 MP:0001262 decreased body weight "lower than normal average weight " [J:61295]
Show

Allelic Composition: Fancatm1Wong/Fancatm1Wong
Genetic Background: involves: C57BL/6

 MP:0002108 abnormal muscle morphology "abnormal development of muscle tissue resulting in morphological abnormality" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Fancatm1Wong/Fancatm1Wong
Genetic Background: involves: C57BL/6

 MP:0002169 no phenotype detected "normal, viable and fertile appearance and behavior; indistinguishable from controls" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Capn3tm1Jsb/Capn3+,Ttntm1.1Isrd/Ttn+
Genetic Background: involves: 129/Sv * 129S2/SvPas * C57BL/6

 MP:0002279 abnormal diaphragm morphology "structural defect in the thin musculomebraneous barrier that separates the abdominal and thoracic cavities; these muscles often used for breathing control" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Fancatm1Wong/Fancatm1Wong
Genetic Background: involves: C57BL/6

 MP:0002795 dilated cardiomyopathy "decreased function of the heart associated with cardiac enlargement and congestive heart failure" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, MeSH:National Library of Medicine - Medical Subject Headings , 2003]
Show

Allelic Composition: Capn3tm1Jsb/Capn3+,Ttntm1.1Isrd/Ttntm1.1Isrd
Genetic Background: involves: 129/Sv * 129S2/SvPas * C57BL/6

 MP:0003081 abnormal soleus morphology "anomaly in the the superficial flat broad muscle of the calf that is responsible for plantar flexion of the foot" [Stedman s Medical Dictionary, 27th edition:ISBN 0-683-40008-8, smb:Susan M. Bello, Mouse Genome Informatics Curator]
Show

Allelic Composition: Fancatm1Wong/Fancatm1Wong
Genetic Background: involves: C57BL/6

 MP:0003082 abnormal gastrocnemius morphology "anomaly in the the two-headed large muscle of the posterior portion of the lower hindleg, the most superficial of the calf muscles" [smb:Susan M. Bello, Mouse Genome Informatics Curator, Stedman s Medical Dictionary, 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Fancatm1Wong/Fancatm1Wong
Genetic Background: involves: C57BL/6

 MP:0003083 abnormal tibialis anterior morphology "anomaly in the the muscle of the shin that is responsible for dorsiflexion and inversion of the foot" [smb:Susan M. Bello, Mouse Genome Informatics Curator, Stedman s Medical Dictionary, 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Fancatm1Wong/Fancatm1Wong
Genetic Background: involves: C57BL/6

 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: Fancatm1Wong/Fancatm1Wong
Genetic Background: involves: C57BL/6

Allelic Composition: Capn3tm1.1Hiso/Capn3tm1.1Hiso
Genetic Background: B6.129P2-Capn3tm1.1Hiso

 MP:0004121 abnormal sarcolemma morphology "structural anomaly in the plasma membrane of a muscle fiber that is cabable of conducting electrical impuses" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Cyp19a1tm1Sih/Cyp19a1tm1Sih
Genetic Background: involves: 129S/SvEv

 MP:0004179 transmission ratio distortion "the occurence of an allele or haplotype in the offspring of an organism at skewed Mendelian ratios" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Cyp19a1tm1Sih/Cyp19a1tm1Sih
Genetic Background: involves: 129S/SvEv

 MP:0004819 decreased skeletal muscle mass "reduction in the physical bulk, or total amount of matter contained within skeletal muscle" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Fancatm1Wong/Fancatm1Wong
Genetic Background: involves: C57BL/6

 MP:0009402 decreased skeletal muscle fiber diameter "decreased width of the cross-sectional distance that extends from one lateral edge of a skeletal muscle fiber, through its center and to the opposite lateral edge" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Capn3tm1.1Hiso/Capn3tm1.1Hiso
Genetic Background: B6.129P2-Capn3tm1.1Hiso

 MP:0009404 centrally nucleated skeletal muscle fibers "cell nuclei are located at a position in the center of the skeletal myofiber, instead of their normal location at the periphery of the fiber; may be indicative of centronuclear myopathy" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Capn3tm1.1Hiso/Capn3tm1.1Hiso
Genetic Background: B6.129P2-Capn3tm1.1Hiso

Allelic Composition: Capn3tm1Jsb/Capn3+,Ttntm1.1Isrd/Ttntm1.1Isrd
Genetic Background: involves: 129/Sv * 129S2/SvPas * C57BL/6

 MP:0009415 skeletal muscle degeneration "pathological deterioration of skeletal muscle tissue, often accompanied by loss of function" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Capn3tm1.1Hiso/Capn3tm1.1Hiso
Genetic Background: B6.129P2-Capn3tm1.1Hiso

 MP:0010090 increased circulating creatine kinase level "an elevation in the concentration in the blood of an enzyme that catalyzes the reversible transfer of creatine to phosphocreatine" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Capn3tm1.1Hiso/Capn3tm1.1Hiso
Genetic Background: B6.129P2-Capn3tm1.1Hiso

 MP:0030566 abnormal A band morphology "any structural anomaly of the dark-staining region of a sarcomere that is situated between two I bands and marked by partial overlapping of thin (actin) and thick (myosin) filaments; an A band is anisotropic to polarized light and contains the entire length of a single thick filament; its center is traversed by the paler H zone, which in turn contains the M line" [GO:0031672, https://en.wikipedia.org/wiki/Sarcomere, https://medical-dictionary.thefreedictionary.com/A+band]
Show

Allelic Composition: Fancatm1Wong/Fancatm1Wong
Genetic Background: involves: C57BL/6

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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