ENSMUSG00000048126


Mus musculus

Features
Gene ID: ENSMUSG00000048126
  
Biological name :Col6a3
  
Synonyms : Col6a3 / collagen, type VI, alpha 3
  
Possible biological names infered from orthology : collagen type VI alpha 3 chain / P12111
  
Species: Mus musculus
  
Chr. number: 1
Strand: -1
Band: D
Gene start: 90765923
Gene end: 90843971
  
Corresponding Affymetrix probe sets: 10356520 (MoGene1.0st)   1424131_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000057131
Ensembl peptide - ENSMUSP00000140858
Ensembl peptide - ENSMUSP00000140280
Ensembl peptide - ENSMUSP00000137585
Ensembl peptide - ENSMUSP00000115210
NCBI entrez gene - 12835     See in Manteia.
MGI - MGI:88461
RefSeq - NM_001243009
RefSeq - NM_001243008
RefSeq Peptide - NP_001229938
RefSeq Peptide - NP_001229937
swissprot - A0A087WQN9
swissprot - A0A087WS16
swissprot - D3YWD1
swissprot - E9PWQ3
swissprot - J3QQ16
Ensembl - ENSMUSG00000048126
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 col6a3ENSDARG00000095915Danio rerio
 col6a3ENSDARG00000077139Danio rerio
 COL6A3ENSGALG00000003923Gallus gallus
 COL6A3ENSG00000163359Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Col6a5 / collagen type VI alpha 5 chain / A8TX70*ENSMUSG0000009134526
Col6a6 / Q8C6K9 / Collagen alpha-6(VI) chain / A6NMZ7* / collagen type VI alpha 6 chain*ENSMUSG0000004371926
A2AX52 / Col6a4 / Collagen alpha-4(VI) chain ENSMUSG0000003257224
Col7a1 / Q63870 / Collagen alpha-1(VII) chain / Q02388* / collagen type VII alpha 1 chain*ENSMUSG0000002565016
Q60847 / Col12a1 / Collagen alpha-1(XII) chain / Q99715* / collagen type XII alpha 1 chain*ENSMUSG0000003233211
Q80X19 / Col14a1 / Collagen alpha-1(XIV) chain / Q05707* / collagen type XIV alpha 1 chain*ENSMUSG0000002237111
Q923P0 / Col20a1 / Collagen alpha-1(XX) chain / Q9P218* / collagen type XX alpha 1 chain*ENSMUSG000000163568
Vit / Q8VHI5 / vitrin / Q6UXI7*ENSMUSG000000240765
Vwa2 / Q70UZ7 / von Willebrand factor A domain containing 2 / Q5GFL6*ENSMUSG000000250825
Coch / Q62507 / Cochlin / O43405*ENSMUSG000000209534


Protein motifs (from Interpro)
Interpro ID Name
 IPR002035  von Willebrand factor, type A
 IPR002223  Pancreatic trypsin inhibitor Kunitz domain
 IPR003961  Fibronectin type III
 IPR008160  Collagen triple helix repeat
 IPR013783  Immunoglobulin-like fold
 IPR016133  Insect cysteine-rich antifreeze protein
 IPR020901  Proteinase inhibitor I2, Kunitz, conserved site
 IPR036116  Fibronectin type III superfamily
 IPR036465  von Willebrand factor A-like domain superfamily
 IPR036880  Pancreatic trypsin inhibitor Kunitz domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0010951 negative regulation of endopeptidase activity IEA
 cellular_componentGO:0005576 extracellular region ISO
 cellular_componentGO:0005581 collagen trimer IDA
 cellular_componentGO:0005615 extracellular space ISO
 cellular_componentGO:0031012 extracellular matrix ISO
 cellular_componentGO:0042383 sarcolemma IDA
 molecular_functionGO:0004867 serine-type endopeptidase inhibitor activity IEA
 molecular_functionGO:0005515 protein binding IEA


Pathways (from Reactome)
Pathway description
Collagen degradation
Collagen biosynthesis and modifying enzymes
Signaling by PDGF
Assembly of collagen fibrils and other multimeric structures
Integrin cell surface interactions
ECM proteoglycans
NCAM1 interactions
Collagen chain trimerization


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000731 increased collagen deposition in the muscles "accumulation of collagen within the muscles" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Fktntm3.1Ttd/Fktntm3.1Ttd,Tg(Ckmm-cre)5Khn/0
Genetic Background: involves: C57BL/6 * FVB

 MP:0000751 myopathy "any abnormal condition or disease of the skeletal muscle" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:42574]
Show

Allelic Composition: Fktntm3.1Ttd/Fktntm3.1Ttd,Tg(Ckmm-cre)5Khn/0
Genetic Background: involves: C57BL/6 * FVB

Allelic Composition: Col6a3tm2.1Chu/Col6a3tm2.1Chu
Genetic Background: B6.129(Cg)-Col6a3tm2.1Chu

Allelic Composition: Col6a3tm2.1Chu/Col6a3+
Genetic Background: B6.129(Cg)-Col6a3tm2.1Chu

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

Allelic Composition: Fktntm3.1Ttd/Fktntm3.1Ttd,Tg(Ckmm-cre)5Khn/0
Genetic Background: involves: C57BL/6 * FVB

 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: Fktntm3.1Ttd/Fktntm3.1Ttd,Tg(Ckmm-cre)5Khn/0
Genetic Background: involves: C57BL/6 * FVB

 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: Col6a3tm2.1Chu/Col6a3+
Genetic Background: B6.129(Cg)-Col6a3tm2.1Chu

 MP:0003851 skeletal muscle interstitial fibrosis "formation of fibrous tissue within the interstices of skeletal muscle as a result of repair or a reactive process" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Fktntm3.1Ttd/Fktntm3.1Ttd,Tg(Ckmm-cre)5Khn/0
Genetic Background: involves: C57BL/6 * FVB

 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]
Show

Allelic Composition: Col6a3tm2.1Chu/Col6a3tm2.1Chu
Genetic Background: B6.129(Cg)-Col6a3tm2.1Chu

Allelic Composition: Col6a3tm2.1Chu/Col6a3+
Genetic Background: B6.129(Cg)-Col6a3tm2.1Chu

 MP:0004089 dilated sarcoplasmic reticulum "an expansion in the volume 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: Col6a3tm2.1Chu/Col6a3tm2.1Chu
Genetic Background: B6.129(Cg)-Col6a3tm2.1Chu

Allelic Composition: Col6a3tm2.1Chu/Col6a3+
Genetic Background: B6.129(Cg)-Col6a3tm2.1Chu

 MP:0005503 abnormal tendon morphology "structural anomaly of the fibrous bands or cords of connective tissue at the ends of muscle fibers that attach muscles to bones and other structures" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, J:45509]
Show

Allelic Composition: Col6a3tm2.1Chu/Col6a3tm2.1Chu
Genetic Background: B6.129(Cg)-Col6a3tm2.1Chu

Allelic Composition: Col6a3tm2.1Chu/Col6a3+
Genetic Background: B6.129(Cg)-Col6a3tm2.1Chu

 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"]
Show

Allelic Composition: Fktntm3.1Ttd/Fktntm3.1Ttd,Tg(Ckmm-cre)5Khn/0
Genetic Background: involves: C57BL/6 * FVB

Allelic Composition: Col6a3tm2.1Chu/Col6a3tm2.1Chu
Genetic Background: B6.129(Cg)-Col6a3tm2.1Chu

Allelic Composition: Col6a3tm2.1Chu/Col6a3+
Genetic Background: B6.129(Cg)-Col6a3tm2.1Chu

 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: Fktntm3.1Ttd/Fktntm3.1Ttd,Tg(Ckmm-cre)5Khn/0
Genetic Background: involves: C57BL/6 * FVB

Allelic Composition: Col6a3tm2.1Chu/Col6a3tm2.1Chu
Genetic Background: B6.129(Cg)-Col6a3tm2.1Chu

Allelic Composition: Col6a3tm2.1Chu/Col6a3+
Genetic Background: B6.129(Cg)-Col6a3tm2.1Chu

 MP:0010239 decreased skeletal muscle weight "less than average skeletal muscle weight" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Fktntm3.1Ttd/Fktntm3.1Ttd,Tg(Ckmm-cre)5Khn/0
Genetic Background: involves: C57BL/6 * FVB

 MP:0011633 abnormal mitochondrial shape "any anomaly in the characteristic surface outline or contour of a mitochondria" [MGI:csmith]
Show

Allelic Composition: Col6a3tm2.1Chu/Col6a3tm2.1Chu
Genetic Background: B6.129(Cg)-Col6a3tm2.1Chu

Allelic Composition: Col6a3tm2.1Chu/Col6a3+
Genetic Background: B6.129(Cg)-Col6a3tm2.1Chu

 MP:0011643 abnormal tendon collagen fibril morphology "any structural anomaly of the connective tissue bundles in the extracellular matrix of tendon tissue that are composed of collagen, and play a role in tissue strength and elasticity" [MGI:csmith]
Show

Allelic Composition: Fktntm3.1Ttd/Fktntm3.1Ttd,Tg(Ckmm-cre)5Khn/0
Genetic Background: involves: C57BL/6 * FVB

Allelic Composition: Col6a3tm2.1Chu/Col6a3tm2.1Chu
Genetic Background: B6.129(Cg)-Col6a3tm2.1Chu

Allelic Composition: Col6a3tm2.1Chu/Col6a3+
Genetic Background: B6.129(Cg)-Col6a3tm2.1Chu

 MP:0013237 abnormal skeletal muscle regeneration "anomaly in the ability to repair skeletal muscle after injury or disease" [MGI:csmith]
Show

Allelic Composition: Fktntm3.1Ttd/Fktntm3.1Ttd,Tg(Ckmm-cre)5Khn/0
Genetic Background: involves: C57BL/6 * FVB

  


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






 

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