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collagen 6 alpha-1 (COL6A1)
Function:
- collagen 6 acts as a cell-binding protein
- Pro at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains
- trimers composed of three different chains: COL6A1, COL6A2, & COL6A3 or COL6A5 or COL6A6
Structure:
- belongs to the type VI collagen family
- contains 3 VWFA domains
Compartment: secreted, extracellular space, extracellular matrix (putative)
Pathology:
- defects in COL6A1 are a cause of
a) Bethlem myopathy
b) Ullrich congenital muscular dystrophy
General
collagen subunit
glycoprotein
Properties
SIZE: entity length = 1028 aa
MW = 109 kD
MOTIF: signal sequence {1-19}
N-terminal globular {20-256}
MOTIF: VWFA domain {37-235}
N-glycosylation site {N212}
Triple-helical region {257-592}
MOTIF: Cell attachment site {262-264}
Cell attachment site {442-444}
Cell attachment site {478-480}
N-glycosylation site {N516}
N-glycosylation site {N537}
C-terminal globular {593-1028}
MOTIF: VWFA domain {615-805}
N-glycosylation site {N804}
VWFA domain {829-1021}
N-glycosylation site {N896}
Database Correlations
OMIM correlations
UniProt P12109
PFAM correlations
Entrez Gene 1291
Kegg hsa:1291
References
- UniProt :accession P12109
- GeneReviews
http://www.ncbi.nlm.nih.gov/sites/genetests/lab/gene/COL6A1
- Molecular Cell Biology (2nd ed) Darnell J; Lodish H
& Baltimore D (eds), Scientific American Books,
WH Freeman, NY 1990, pg 906
- OMIM :accession 120220
- Entrez Gene :accession 1291
Component-of
collagen type-6