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collagen 6 alpha-3 (COL6A3)

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 the N-terminus is blocked - trimers composed of three different chains: COL6A1, COL6A2, & COL6A3 or COL6A5 or COL6A6 Structure: - belongs to the type 6 collagen family - contains 1 BPTI/Kunitz inhibitor domain - contains 5 collagen-like domains - contains 1 fibronectin F3 module - contains 12 VWFA domains Compartment: - secreted, extracellular space, extracellular matrix (putative) Alternative splicing: named isoforms=2 Pathology: - defects in COL6A3 are a cause of a) Bethlem myopathy b) Ullrich congenital muscular dystrophy

General

collagen subunit glycoprotein

Properties

SIZE: entity length = 3177 aa MW = 344 kD MOTIF: signal sequence {1-25} Nonhelical region {26-2038} MOTIF: VWFA domain {39-213} N-glycosylation site {N108} N-glycosylation site {N116} N-glycosylation site {N202} VWFA domain {242-419} N-glycosylation site {N251} VWFA domain {445-620} VWFA domain {639-816} VWFA domain {837-1009} VWFA 6 {1029-1205} VWFA 7 {1233-1404} VWFA 8 {1436-1609} VWFA 9 {1639-1812} VWFA 10 {1838-2024} Collagen-like 1 {2038-2097} Triple-helical region {2039-2375} MOTIF: Cell attachment site {2040-2042} N-glycosylation site {N2079} cysteine residue {C2087} MODIFICATION: cysteine residue {C-INTERCHAIN} Collagen-like 2 {2104-2163} Cell attachment {2136-2138} Cell attachment {2148-2150} Cell attachment {2154-2156} Collagen-like 3 {2174-2233} Collagen-like 4 {2249-2300} Collagen-like 5 {2314-2373} N-glycosylation site {N2331} Cell attachment {2370-2372} Nonhelical region {2376-3177} MOTIF: VWFA 11 {2402-2581} N-glycosylation site {N2558} VWFA 12 {2619-2815} N-glycosylation site {N2677} N-glycosylation site {N2861} threonine-rich region {2863-2898} MOTIF: threonine residue (SEVERAL) alanine-rich region {2908-2983} MOTIF: alanine residue (SEVERAL) fibronectin type III domain or F3 module {2988-3076} N-glycosylation site {N3037} BPTI/Kunitz inhibitor {3112-3162} cysteine residue {C3112} MODIFICATION: cysteine residue {C3162} cysteine residue {C3121} MODIFICATION: cysteine residue {C3145} peptide motif {3122-3123} cysteine residue {C3137} MODIFICATION: cysteine residue {C3158} cysteine residue {C3145} MODIFICATION: cysteine residue {C3121} cysteine residue {C3158} MODIFICATION: cysteine residue {C3137} cysteine residue {C3162} MODIFICATION: cysteine residue {C3112}

Database Correlations

OMIM correlations MORBIDMAP 120250 UniProt P12111 PFAM correlations Entrez Gene 1293 Kegg hsa:1293

References

  1. UniProt :accession P12111
  2. GeneReviews http://www.ncbi.nlm.nih.gov/sites/genetests/lab/gene/COL6A3
  3. Molecular Cell Biology (2nd ed) Darnell J; Lodish H & Baltimore D (eds), Scientific American Books, WH Freeman, NY 1990, pg 906
  4. OMIM :accession 120250
  5. Entrez Gene :accession 1293

Component-of

collagen type-6