ENSMUSG00000001119


Mus musculus

Features
Gene ID: ENSMUSG00000001119
  
Biological name :Col6a1
  
Synonyms : Col6a1 / Collagen alpha-1(VI) chain / Q04857
  
Possible biological names infered from orthology : collagen type VI alpha 1 chain / P12109
  
Species: Mus musculus
  
Chr. number: 10
Strand: -1
Band: C1
Gene start: 76708792
Gene end: 76726168
  
Corresponding Affymetrix probe sets: 10370210 (MoGene1.0st)   1448590_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000001147
NCBI entrez gene - 12833     See in Manteia.
MGI - MGI:88459
RefSeq - NM_009933
RefSeq Peptide - NP_034063
swissprot - Q04857
Ensembl - ENSMUSG00000001119
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 col6a1ENSDARG00000074908Danio rerio
 COL6A1ENSGALG00000005974Gallus gallus
 COL6A1ENSG00000142156Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Col6a2 / Q02788 / Mus musculus collagen, type VI, alpha 2 (Col6a2), transcript variant 2, mRNA. / P12110* / collagen type VI alpha 2 chain*ENSMUSG0000002024136
Q2UY11 / Col28a1 / Collagen alpha-1(XXVIII) chain / Q2UY09* / collagen type XXVIII alpha 1 chain*ENSMUSG0000006879426
Q07563 / Col17a1 / Collagen alpha-1(XVII) chain 120 kDa linear IgA disease antigen homolog / Q9UMD9* / collagen type XVII alpha 1 chain*ENSMUSG0000002506421
Q8K4Q8 / Colec12 / Collectin-12 / Q5KU26* / collectin subfamily member 12*ENSMUSG0000003610312
Colq / O35348 / Acetylcholinesterase collagenic tail peptide / Q9Y215* / collagen like tail subunit of asymmetric acetylcholinesterase*ENSMUSG0000005760612
Q8C850 / Scara3 / Scavenger receptor class A member 3 / Q6AZY7*ENSMUSG0000003446310


Protein motifs (from Interpro)
Interpro ID Name
 IPR002035  von Willebrand factor, type A
 IPR008160  Collagen triple helix repeat
 IPR016133  Insect cysteine-rich antifreeze protein
 IPR036465  von Willebrand factor A-like domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0007155 cell adhesion IEA
 biological_processGO:0035987 endodermal cell differentiation IEA
 biological_processGO:0070208 protein heterotrimerization IEA
 biological_processGO:0071230 cellular response to amino acid stimulus IDA
 cellular_componentGO:0005576 extracellular region ISO
 cellular_componentGO:0005581 collagen trimer IEA
 cellular_componentGO:0005615 extracellular space IDA
 cellular_componentGO:0031012 extracellular matrix IEA
 cellular_componentGO:0032991 protein-containing complex IEA
 cellular_componentGO:0042383 sarcolemma IDA
 molecular_functionGO:0048407 platelet-derived growth factor 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: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: Fgf8tm1.3Mrt/Fgf8tm1.4Mrt,Tg(Tbx1-cre)1Joe/0
Genetic Background: Not Specified

Allelic Composition: Col6a1tm1Gmb/Col6a1+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0000759 abnormal skeletal muscle morphology "anomalous structure of any of the striated muscle fibers connected at either or both extremeties with the bony framework of the body" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Fgf8tm1.3Mrt/Fgf8tm1.4Mrt,Tg(Tbx1-cre)1Joe/0
Genetic Background: Not Specified

 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: Fgf8tm1.3Mrt/Fgf8tm1.4Mrt,Tg(Tbx1-cre)1Joe/0
Genetic Background: Not Specified

 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: Fgf8tm1.3Mrt/Fgf8tm1.4Mrt,Tg(Tbx1-cre)1Joe/0
Genetic Background: Not Specified

Allelic Composition: Col6a1tm1Gmb/Col6a1+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 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]
Show

Allelic Composition: Fgf8tm1.3Mrt/Fgf8tm1.4Mrt,Tg(Tbx1-cre)1Joe/0
Genetic Background: Not Specified

Allelic Composition: Col6a1tm1Gmb/Col6a1+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 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: Fgf8tm1.3Mrt/Fgf8tm1.4Mrt,Tg(Tbx1-cre)1Joe/0
Genetic Background: Not Specified

 MP:0003852 skeletal muscle necrosis "pathological cell death in the skeletal muscle, usually due to irreversible damage" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Fgf8tm1.3Mrt/Fgf8tm1.4Mrt,Tg(Tbx1-cre)1Joe/0
Genetic Background: Not Specified

Allelic Composition: Col6a1tm1Gmb/Col6a1+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 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: Col6a1tm1Gmb/Col6a1+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

  


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






 

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