COL6A1

GENE INFORMATION

? »

Gene name

COL6A1

Synonyms

Description

Collagen, type VI, alpha 1 (HGNC Symbol)

Entrez gene summary

The collagens are a superfamily of proteins that play a role in maintaining the integrity of various tissues. Collagens are extracellular matrix proteins and have a triple-helical domain as their common structural element. Collagen VI is a major structural component of microfibrils. The basic structural unit of collagen VI is a heterotrimer of the alpha1(VI), alpha2(VI), and alpha3(VI) chains. The alpha2(VI) and alpha3(VI) chains are encoded by the COL6A2 and COL6A3 genes, respectively. The protein encoded by this gene is the alpha 1 subunit of type VI collagen (alpha1(VI) chain). Mutations in the genes that code for the collagen VI subunits result in the autosomal dominant disorder, Bethlem myopathy. [provided by RefSeq, Jul 2008]

Chromosome

21

Cytoband

q22.3

Chromosome location (bp)

45981737 - 46005050

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000142156 (version 78.38)

Entrez gene

1291

UniProt

P12109 (UniProt - Evidence at protein level)

neXtProt

NX_P12109

Antibodypedia

COL6A1 antibodies
 

PROTEIN VIEW

? »
 
 
 
COL6A1-001
 
COL6A1-201
 
 
 
 
 

PROTEIN INFORMATION

? »

Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

COL6A1-001 ENSP00000355180
ENST00000361866
P12109
Show all »
Show » Show » 1028 108.5 Yes 0
COL6A1-201 ENSP00000483630
ENST00000612273
Q05BT9
Show all »
Show » 1026 108.3 Yes 0