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 dog; 1 chicken; 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; chr21:47401663-47424963 (+)  GRCh37.p10
Disease Associations		(3) Diseases Associated with Human COL6A1

Alleles and phenotypes

All alleles(5) : Targeted(5)
 

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(1)   

Gene Ontology (GO) classifications

All GO classifications: (11 annotations)

Process	cell adhesion, cellular response to amino acid stimulus, ...
Component	collagen, extracellular matrix, ...
Function	platelet-derived growth factor binding

External Resources: FuncBase

Expression

Literature Summary: (30 records)
Data Summary: Results (275)    Tissues (233)    Images (36)
Theiler Stages: 13, 15, 17, 20, 22, 23, 24, 26, 28

Assay Type	Results
RNA in situ	257
RT-PCR	18

cDNA source data(226)
External Resources: Allen Institute   GENSAT   GEO   ArrayExpress

Molecular reagents

All nucleic(252) Genomic(18) cDNA(229) Primer pair(3) Other(2)
Microarray probesets(4)

Other database links

VEGA Gene Model	OTTMUSG00000020489 (Evidence)
Ensembl Gene Model	ENSMUSG00000001119 (Evidence)
Entrez Gene	12833 (Evidence)
UniGene	2509
DFCI	TC1574134
DoTS	DT.535763
NIA Mouse Gene Index	U031947
Consensus CDS Project	CCDS23952.1
International Mouse Knockout Project Status	Col6a1

Sequences

Length	Strain/Species
genomic	OTTMUSG00000020489	VEGA Gene Model | MGI Sequence Detail	17377	C57BL/6J
transcript	OTTMUST00000048591	VEGA | MGI Sequence Detail	4100	Not Applicable
polypeptide	OTTMUSP00000022317	VEGA | MGI Sequence Detail	1025	Not Applicable

All sequences(36) RefSeq(2) UniProt(5)

Polymorphisms

RFLP(3) : SNPs within 2kb(125 from dbSNP Build 137)

Protein-related information

Resource	ID	Description
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:193562 Park J, et al., Adipocyte-derived endotrophin promotes malignant tumor progression. J Clin Invest. 2012 Nov 1;122(11):4243-56
All references(108)

Other accession IDs

MGD-MRK-2073, MGD-MRK-2076, MGI:2143667