collagen 3 alpha-1
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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
Alternative splicing
named isoforms=2
Pathology
- defects in COL3A1 are a cause of
- Ehlers-Danlos syndrome type 3
- susceptibility to abdominal aortic aneurysm
- defects in COL3A1 are the cause of Ehlers-Danlos syndrome type 4
More general terms
Additional terms
Component of
References
- ↑ UniProt http://www.uniprot.org/uniprot/P02461.html
- ↑ 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 https://mirror.omim.org/entry/120180
- ↑ Entrez Gene http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=1281
Database
- Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=1281
- Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:1281
- OMIM: https://mirror.omim.org/entry/100070
- OMIM: https://mirror.omim.org/entry/120180
- OMIM: https://mirror.omim.org/entry/130020
- OMIM: https://mirror.omim.org/entry/130050
- UniProt: http://www.uniprot.org/uniprot/P02461.html