ENSMUSG00000062694


Mus musculus

Features
Gene ID: ENSMUSG00000062694
  
Biological name :Cav3
  
Synonyms : Cav3 / Caveolin-3 / P51637
  
Possible biological names infered from orthology : P56539
  
Species: Mus musculus
  
Chr. number: 6
Strand: 1
Band: E3
Gene start: 112459505
Gene end: 112472872
  
Corresponding Affymetrix probe sets: 10540533 (MoGene1.0st)   1418413_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000074922
NCBI entrez gene - 12391     See in Manteia.
MGI - MGI:107570
RefSeq - NM_007617
RefSeq Peptide - NP_031643
swissprot - P51637
Ensembl - ENSMUSG00000062694
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 cav3ENSDARG00000024141Danio rerio
 CAV3ENSGALG00000008351Gallus gallus
 CAV3ENSG00000182533Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Cav1 / P49817 / Caveolin-1 / Q03135*ENSMUSG0000000765564
Cav2 / Q9WVC3 / Caveolin-2 / P51636*ENSMUSG0000000005833


Protein motifs (from Interpro)
Interpro ID Name
 IPR001612  Caveolin
 IPR018361  Caveolin, conserved site
 IPR031091  Caveolin-3


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001778 plasma membrane repair IMP
 biological_processGO:0002027 regulation of heart rate IEA
 biological_processGO:0006469 negative regulation of protein kinase activity IMP
 biological_processGO:0006641 triglyceride metabolic process IMP
 biological_processGO:0006897 endocytosis TAS
 biological_processGO:0007009 plasma membrane organization IMP
 biological_processGO:0007015 actin filament organization IMP
 biological_processGO:0007204 positive regulation of cytosolic calcium ion concentration IEA
 biological_processGO:0007520 myoblast fusion IMP
 biological_processGO:0008016 regulation of heart contraction IEA
 biological_processGO:0008104 protein localization IMP
 biological_processGO:0008284 positive regulation of cell proliferation IEA
 biological_processGO:0010614 negative regulation of cardiac muscle hypertrophy IEA
 biological_processGO:0010831 positive regulation of myotube differentiation IMP
 biological_processGO:0014819 regulation of skeletal muscle contraction IEA
 biological_processGO:0014902 myotube differentiation IMP
 biological_processGO:0017015 regulation of transforming growth factor beta receptor signaling pathway IMP
 biological_processGO:0023051 regulation of signaling IEA
 biological_processGO:0030154 cell differentiation IEA
 biological_processGO:0031116 positive regulation of microtubule polymerization IEA
 biological_processGO:0031122 cytoplasmic microtubule organization IMP
 biological_processGO:0031579 membrane raft organization IMP
 biological_processGO:0035995 detection of muscle stretch IMP
 biological_processGO:0038009 regulation of signal transduction by receptor internalization IEA
 biological_processGO:0042391 regulation of membrane potential IEA
 biological_processGO:0042593 glucose homeostasis IMP
 biological_processGO:0042632 cholesterol homeostasis IMP
 biological_processGO:0043407 negative regulation of MAP kinase activity IEA
 biological_processGO:0043409 negative regulation of MAPK cascade IMP
 biological_processGO:0045792 negative regulation of cell size IEA
 biological_processGO:0046716 muscle cell cellular homeostasis IMP
 biological_processGO:0051001 negative regulation of nitric-oxide synthase activity IMP
 biological_processGO:0051394 regulation of nerve growth factor receptor activity IEA
 biological_processGO:0051647 nucleus localization IMP
 biological_processGO:0051896 regulation of protein kinase B signaling IMP
 biological_processGO:0051924 regulation of calcium ion transport IMP
 biological_processGO:0051926 negative regulation of calcium ion transport IEA
 biological_processGO:0055013 cardiac muscle cell development IMP
 biological_processGO:0055117 regulation of cardiac muscle contraction IEA
 biological_processGO:0060299 negative regulation of sarcomere organization IEA
 biological_processGO:0060307 regulation of ventricular cardiac muscle cell membrane repolarization IEA
 biological_processGO:0060347 heart trabecula formation IMP
 biological_processGO:0060373 regulation of ventricular cardiac muscle cell membrane depolarization IEA
 biological_processGO:0060762 regulation of branching involved in mammary gland duct morphogenesis IMP
 biological_processGO:0061052 negative regulation of cell growth involved in cardiac muscle cell development IEA
 biological_processGO:0070836 caveola assembly ISO
 biological_processGO:0071417 cellular response to organonitrogen compound IEA
 biological_processGO:0072659 protein localization to plasma membrane IMP
 biological_processGO:0086005 ventricular cardiac muscle cell action potential IEA
 biological_processGO:0090279 regulation of calcium ion import IEA
 biological_processGO:0098909 regulation of cardiac muscle cell action potential involved in regulation of contraction IEA
 biological_processGO:1900744 regulation of p38MAPK cascade IMP
 biological_processGO:1900825 regulation of membrane depolarization during cardiac muscle cell action potential IEA
 biological_processGO:1900826 negative regulation of membrane depolarization during cardiac muscle cell action potential IMP
 biological_processGO:1901017 negative regulation of potassium ion transmembrane transporter activity IEA
 biological_processGO:1901019 regulation of calcium ion transmembrane transporter activity IEA
 biological_processGO:1901380 negative regulation of potassium ion transmembrane transport IEA
 biological_processGO:2000649 regulation of sodium ion transmembrane transporter activity IEA
 biological_processGO:2001288 positive regulation of caveolin-mediated endocytosis IEA
 cellular_componentGO:0000139 Golgi membrane IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005783 endoplasmic reticulum IEA
 cellular_componentGO:0005794 Golgi apparatus IEA
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0005901 caveola ISO
 cellular_componentGO:0009986 cell surface IEA
 cellular_componentGO:0014704 intercalated disc IEA
 cellular_componentGO:0016010 dystrophin-associated glycoprotein complex IEA
 cellular_componentGO:0016020 membrane IDA
 cellular_componentGO:0030018 Z disc IEA
 cellular_componentGO:0030315 T-tubule IEA
 cellular_componentGO:0031594 neuromuscular junction IEA
 cellular_componentGO:0031982 vesicle IEA
 cellular_componentGO:0042383 sarcolemma IEA
 cellular_componentGO:0043231 intracellular membrane-bounded organelle IEA
 cellular_componentGO:0045121 membrane raft IDA
 molecular_functionGO:0005246 calcium channel regulator activity IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008022 protein C-terminus binding IEA
 molecular_functionGO:0017080 sodium channel regulator activity IEA
 molecular_functionGO:0019870 potassium channel inhibitor activity IEA
 molecular_functionGO:0019899 enzyme binding IEA
 molecular_functionGO:0032947 protein-containing complex scaffold activity ISO
 molecular_functionGO:0043014 alpha-tubulin binding IDA
 molecular_functionGO:0044325 ion channel binding ISO
 molecular_functionGO:0044877 protein-containing complex binding IEA
 molecular_functionGO:0050998 nitric-oxide synthase binding IEA
 molecular_functionGO:0071253 connexin binding IPI


Pathways (from Reactome)
Pathway description
Smooth Muscle Contraction


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000278 abnormal myocardial fiber morphology "malformed or poorly developed cardiac muscle fibers, the multinucleated muscle cells of the heart" [J:18048]
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Allelic Composition: Ddx4tm1Tnc/Ddx4+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6NJcl

Allelic Composition: Cav1tm1Mls/Cav1tm1Mls,Cav3tm1Mls/Cav3tm1Mls
Genetic Background: involves: 129/Sv * C57BL/6J * SJL

Allelic Composition: Cav3tm1Ncnp/Cav3tm1Ncnp
Genetic Background: involves: 129S4/SvJae * C57BL/10

 MP:0000733 abnormal muscle development "anomalous differentiation of muscle tissue" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Prkdcm7Btlr/Prkdcm7Btlr
Genetic Background: C57BL/6J-Prkdcm7Btlr

Allelic Composition: Cav3tm1Ncnp/Cav3+,Dmdmdx/Dmdmdx
Genetic Background: involves: 129S4/SvJae * C57BL/10 * C57BL/10ScSn

 MP:0000749 muscle degeneration "pathological deterioration of muscle tissue, often accompanied by loss of function" [csmith:Cynthia L. Smith, Mouse Genome Informatics Curator]
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Allelic Composition: Amhtm3.1Bhr/Amhtm3.1Bhr
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

 MP:0000751 myopathy "any abnormal condition or disease of the skeletal muscle" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:42574]
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Allelic Composition: Ddx4tm1Tnc/Ddx4+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6NJcl

 MP:0000752 dystrophic muscle "progressive weakness and wasting of muscle" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:67994]
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Allelic Composition: Ddx4tm1Tnc/Ddx4+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6NJcl

 MP:0001625 cardiac hypertrophy "an increase in size of the cardiac tissue, not due to increased cell number " [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Ddx4tm1Tnc/Ddx4+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6NJcl

Allelic Composition: Cav1tm1Mls/Cav1tm1Mls,Cav3tm1Mls/Cav3tm1Mls
Genetic Background: involves: 129/Sv * C57BL/6J * SJL

 MP:0001853 heart inflammation "local accumulation of fluid, plasma proteins, and leukocytes in the heart" [Immunobiology , The Immune System in Health and Disease:ISBN 0-8153-1691-7, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Kcnj6wv/Kcnj6+
Genetic Background: B6CBA Aw-J/A-Kcnj6wv

 MP:0002280 abnormal intercostal muscle morphology "anomaly in the respiratory muscles that arise from the lower border of one rib and insert into the upper border of the adjoining rib " [MeSH:National Library of Medicine - Medical Subject Headings , 2003, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Cav3tm1Ncnp/Cav3+,Dmdmdx/Dmdmdx
Genetic Background: involves: 129S4/SvJae * C57BL/10 * C57BL/10ScSn

 MP:0002625 left ventricle hypertrophy "increased size of the left ventricle" [pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]
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Allelic Composition: Ddx4tm1Tnc/Ddx4+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6NJcl

Allelic Composition: Cav1tm1Mls/Cav1tm1Mls,Cav3tm1Mls/Cav3tm1Mls
Genetic Background: involves: 129/Sv * C57BL/6J * SJL

 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: Ddx4tm1Tnc/Ddx4+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6NJcl

Allelic Composition: Cav1tm1Mls/Cav1tm1Mls,Cav3tm1Mls/Cav3tm1Mls
Genetic Background: involves: 129/Sv * C57BL/6J * SJL

 MP:0002833 increased heart weight "greater than average weight of the heart compared to the average for a particular strain" [RGD:Rat Genome Database submission]
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Allelic Composition: Cav1tm1Mls/Cav1tm1Mls,Cav3tm1Mls/Cav3tm1Mls
Genetic Background: involves: 129/Sv * C57BL/6J * SJL

 MP:0002953 thick ventricular wall "increased depth of the cardiac wall of the heart ventricles" [ava:Anna V. Anagnostopoulos , Mouse Genome Informatics Curator]
Show

Allelic Composition: Ddx4tm1Tnc/Ddx4+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6NJcl

Allelic Composition: Cav1tm1Mls/Cav1tm1Mls,Cav3tm1Mls/Cav3tm1Mls
Genetic Background: involves: 129/Sv * C57BL/6J * SJL

Allelic Composition: Cav3tm1Ncnp/Cav3tm1Ncnp
Genetic Background: involves: 129S4/SvJae * C57BL/10

 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]
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Allelic Composition: Ddx4tm1Tnc/Ddx4+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6NJcl

 MP:0003105 abnormal heart atrium morphology "structural anomaly of one or both of the two upper chambers of the heart " [csmith:Cynthia L. Smith, Mouse Genome Informatics Curator]
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Allelic Composition: Cav3tm1Ncnp/Cav3tm1Ncnp
Genetic Background: involves: 129S4/SvJae * C57BL/10

 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: Ddx4tm1Tnc/Ddx4+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6NJcl

 MP:0004087 abnormal muscle fiber morphology "malformed or poorly developed muscle fibers, the cylindrical multinucleated muscle cells that contract when stimulated" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Cav3tm1Ncnp/Cav3tm1Ncnp
Genetic Background: involves: 129S4/SvJae * C57BL/10

Allelic Composition: Cav3tm1Ncnp/Cav3+,Dmdmdx/Dmdmdx
Genetic Background: involves: 129S4/SvJae * C57BL/10 * C57BL/10ScSn

 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: Ddx4tm1Tnc/Ddx4+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6NJcl

 MP:0004150 absent caveolae "absence of the small pockets, vesicles, caves, or recesses communicating with the outside of a cell and extending inward, indenting the cytoplasm and the cell membrane" [anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator]
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Allelic Composition: Ddx4tm1Tnc/Ddx4+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6NJcl

Allelic Composition: Cav1tm1Mls/Cav1tm1Mls,Cav3tm1Mls/Cav3tm1Mls
Genetic Background: involves: 129/Sv * C57BL/6J * SJL

 MP:0005330 cardiomyopathy "diseases of the heart (myocardium); may result from many causes" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, MeSH:National Library of Medicine - Medical Subject Headings , 2003, pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator, J:80681]
Show

Allelic Composition: Ddx4tm1Tnc/Ddx4+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6NJcl

Allelic Composition: Cav1tm1Mls/Cav1tm1Mls,Cav3tm1Mls/Cav3tm1Mls
Genetic Background: involves: 129/Sv * C57BL/6J * SJL

 MP:0005598 decreased ventricle muscle contractility "reduced ability of the heart ventricle muscle to shorten or to develop increased tension" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, RGD:Rat Genome Database submission]
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Allelic Composition: Ddx4tm1Tnc/Ddx4+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6NJcl

Allelic Composition: Cav1tm1Mls/Cav1tm1Mls,Cav3tm1Mls/Cav3tm1Mls
Genetic Background: involves: 129/Sv * C57BL/6J * SJL

 MP:0005608 cardiac interstitial fibrosis "formation of fibrous tissue within the interstices of the heart as a result of repair or a reactive process" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, RGD:Rat Genome Database submission]
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Allelic Composition: Cav1tm1Mls/Cav1tm1Mls,Cav3tm1Mls/Cav3tm1Mls
Genetic Background: involves: 129/Sv * C57BL/6J * SJL

 MP:0009403 increased variability of skeletal muscle fiber size "greater range or dispersion within a distribution of skeletal muscle fiber size within a muscle compared to controls" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Ddx4tm1Tnc/Ddx4+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6NJcl

 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"]
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Allelic Composition: Cav3tm1Ncnp/Cav3tm1Ncnp
Genetic Background: involves: 129S4/SvJae * C57BL/10

Allelic Composition: Cav3tm1Ncnp/Cav3+,Dmdmdx/Dmdmdx
Genetic Background: involves: 129S4/SvJae * C57BL/10 * C57BL/10ScSn

 MP:0009414 skeletal muscle fiber necrosis "pathological cell death in the skeletal muscle fibers, usually due to irreversible damage" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Ddx4tm1Tnc/Ddx4+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6NJcl

 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"]
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Allelic Composition: Ddx4tm1Tnc/Ddx4+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6NJcl

 MP:0010581 abnormal atrium myocardial trabeculae morphology "any structural anomaly of the supporting bundles of muscular fibers lining the walls of the atria" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition", MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Cav3tm1Ncnp/Cav3tm1Ncnp
Genetic Background: involves: 129S4/SvJae * C57BL/10

 MP:0010724 thick interventricular septum "increased thickness of the wall between the two lower chambers of the heart" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Ddx4tm1Tnc/Ddx4+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6NJcl

Allelic Composition: Cav1tm1Mls/Cav1tm1Mls,Cav3tm1Mls/Cav3tm1Mls
Genetic Background: involves: 129/Sv * C57BL/6J * SJL

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000032231 Anxa2 / P07356 / Annexin A2 / P07355*  / reaction / complex
 ENSMUSG00000033788 Dysf / Q9ESD7 / Dysferlin / O75923*  / complex / reaction
 ENSMUSG00000024659 Anxa1 / P10107 / Annexin A1 / P04083*  / reaction / complex
 ENSMUSG00000042828 Q1XH17 / Trim72 / Tripartite motif-containing protein 72 / Q6ZMU5* / tripartite motif containing 72*  / reaction / complex
 ENSMUSG00000018340 Anxa6 / P14824 / Annexin A6 / P08133*  / reaction / complex






 

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