Search
collagen 3 alpha-1
Function:
- collagen type 3 occurs in most soft connective tissues along with collagen type 1
- Pro at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains
- O-linked glycan consists of a Glc-gal disaccharide bound to the oxygen atom of a post-translationally added hydroxyl group trimers of identical alpha 1(III) chains.
- the chains are linked to each other by interchain disulfide bonds
- trimers are also cross-linked via hydroxylysines
Structure:
- belongs to the fibrillar collagen family
- contains 1 fibrillar collagen NC1 domain
- contains 1 VWFC domain
Compartment:
- secreted, extracellular space, extracellular matrix (putative)
Alternative splicing: named isoforms=2
Pathology:
- defects in COL3A1 are a cause of
a) Ehlers-Danlos syndrome type 3
b) susceptibility to abdominal aortic aneurysm
- defects in COL3A1 are the cause of Ehlers-Danlos syndrome type 4
Related
COL3A1 gene
Ehlers-Danlos syndrome type IV (arterial, ecchymotic or Sack type)
General
collagen subunit
phosphoprotein
Properties
SIZE: entity length = 1466 aa
MW = 139 kD
MOTIF: signal sequence {1-23}
VWFC domain {30-89}
Nonhelical region (N-terminal) {149-167}
Triple-helical region {168-1196}
MOTIF: cysteine residue {C1196}
MODIFICATION: cysteine residue {C-INTERCHAIN}
Nonhelical region (C-terminal) {1197-1205}
MOTIF: cysteine residue {C1197}
MODIFICATION: cysteine residue {C-INTERCHAIN}
Fibrillar collagen NC1 {1232-1466}
MOTIF: Tyr phosphorylation site {Y1378}
Ser phosphorylation site {S1383}
Database Correlations
OMIM correlations
MORBIDMAP 120180
UniProt P02461
PFAM correlations
Entrez Gene 1281
Kegg hsa:1281
References
- UniProt :accession P02461
- COL3A1; Note: collagen type III alpha-1 chain mutations
http://www.le.ac.uk/genetics/collagen/col3a1.html
- GeneReviews
http://www.ncbi.nlm.nih.gov/sites/genetests/lab/gene/COL3A1
- Wikipedia; Note: type-III collagen entry
http://en.wikipedia.org/wiki/type-III_collagen
- Molecular Cell Biology (2nd ed) Darnell J; Lodish H
& Baltimore D (eds), Scientific American Books,
WH Freeman, NY 1990, pg 906
- OMIM :accession 120180
- Entrez Gene :accession 1281
Component-of
collagen type-3