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Col6a1
Gene Detail
Symbol

Name
ID
Col6a1
collagen, type VI, alpha 1
MGI:88459
Synonyms
Col6a-1
Feature Type
protein coding gene
Genetic Map
Chromosome 10
39.71 cM, cytoband B5-C1
Detailed Genetic Map ± 1 cM


Mapping data(24)
Sequence Map
Chr10:76708792-76726168 bp, - strand
From VEGA annotation of GRCm38

  17377 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:1391  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

Protein SuperFamily: collagen VI
Gene Tree: Col6a1

Human
homologs
Human Homolog COL6A1, collagen, type VI, alpha 1
NCBI Gene ID 1291
neXtProt AC  NX_P12109
Human Synonyms  OPLL
Human Chr (Location)  21q22.3; chr21:45981749-46005049 (+)  GRCh38
Disease Associations  (2) Diseases Associated with Human COL6A1
Mutations,
alleles, and
phenotypes
All mutations/alleles(11) : Targeted(11)
Genomic Mutations involving Col6a1 (4)
Incidental mutations (data from Mutagenetix , APF )
 
Mice homozygous for this targeted mutation display a myopathic disorder that resembles human Bethlem myopathy. Loss of contractile strength in affected muscles is associated with an unexpected latent mitochondrial dysfunction in myofibers, as well as spontaneous apoptosis.
 
Human Diseases Modeled Using Mouse Col6a1 (1)    Alleles Annotated to Human Diseases(2)   
Interactions
Col6a1 interacts with 123 markers (Mir7-1, Mir7-2, Mir7b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (16 annotations)
Process cell adhesion, cellular response to amino acid stimulus, ...
Component collagen trimer, extracellular matrix, ...
Function platelet-derived growth factor binding
External Resources: FuncBase
Expression
Literature Summary: (32 records)
Data Summary: Results (317)    Tissues (274)    Images (38)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 299
RT-PCR 18
cDNA source data(229)
External Resources: Allen Institute   GENSAT   GEO   Expression Atlas
Molecular
reagents
All nucleic(255) Genomic(18) cDNA(232) Primer pair(3) Other(2)
Microarray probesets(4)
Other database
links
VEGA Gene ModelOTTMUSG00000020489 (Evidence)
Ensembl Gene ModelENSMUSG00000001119 (Evidence)
Entrez Gene12833 (Evidence)
UniGene2509
DFCITC1574134
DoTSDT.535763
NIA Mouse Gene IndexU031947
Consensus CDS ProjectCCDS23952.1
International Mouse Knockout Project StatusCol6a1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000020489 VEGA Gene Model | MGI Sequence Detail 17377 C57BL/6J ±  kb
transcript OTTMUST00000048591 VEGA | MGI Sequence Detail 4100 Not Applicable 
polypeptide OTTMUSP00000022317 VEGA | MGI Sequence Detail 1025 Not Applicable 

For the selected sequences
All sequences(40) RefSeq(2) UniProt(9)
Polymorphisms
RFLP(3) : SNPs within 2kb(125 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR008160 Collagen triple helix repeat
InterPro IPR002035 von Willebrand factor, type A
Protein Ontology PR:000003353 collagen alpha-1(VI) chain
References
(Earliest) J:32332 Chu ML, et al., Characterization of three constituent chains of collagen type VI by peptide sequences and cDNA clones. Eur J Biochem. 1987 Oct 15;168(2):309-17
(Latest) J:214306 Zulian A, et al., NIM811, a cyclophilin inhibitor without immunosuppressive activity, is beneficial in collagen VI congenital muscular dystrophy models. Hum Mol Genet. 2014 Oct 15;23(20):5353-63
All references(120)
Disease annotation references (3)
Other
accession IDs
MGD-MRK-2073, MGD-MRK-2076, MGI:2143667

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
12/09/2014
MGI 5.20
The Jackson Laboratory