collagen 1 alpha-1; collagen alpha-1(I) chain; alpha-1 type I collagen (COL1A1)
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Function
- type 1 collagen is a member of group 1 collagen (fibrillar forming collagen)
- Pro at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains
- Pro at the second position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some 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 one collagen 1 alpha-2 & two collagen 1 alpha-1 chains
- interacts with MRC2 (putative)
- interacts with TRAM2
Structure
- belongs to the fibrillar collagen family
- contains 1 fibrillar collagen NC1 domain
- contains 1 VWFC domain
Compartment
Expression
- forms the fibrils of tendon, ligaments & bones
- in bones, the fibrils are mineralized with Ca+2 hydroxyapatite
Pathology
- defects in COL1A1 are the cause of:
- defects in COL1A1 are a cause of
- genetic variations in COL1A1 are a cause of susceptibility to osteoporosis
- chromosomal translocation t(17;22)(q22;q13) involving COL1A1 with PDGFB is found in dermatofibrosarcoma protuberans
Notes
collagen type I alpha 1 (COL1A1)
More general terms
References
- ↑ UniProt http://www.uniprot.org/uniprot/P02452.html
- ↑ Osteogenesis imperfecta variant database http://oi.gene.le.ac.uk/home.php?select_db=COL1A1
- ↑ Atlas of Genetics & Cytogenetics in Oncology & Haematology http://atlasgeneticsoncology.org/genes/COL1A1ID186.html
- ↑ GeneReviews http://www.ncbi.nlm.nih.gov/sites/genetests/lab/gene/COL1A1
- ↑ Wikipedia; Note: type-I collagen entry http://en.wikipedia.org/wiki/type-I_collagen
- ↑ Andrews BS. Is the WKS motif the tissue-factor binding site for coagulation factor VII? Trends Biochem Sci. 1991 Jan;16(1):31-6. Review. PMID: https://www.ncbi.nlm.nih.gov/pubmed/2053135
- ↑ 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/120150
- ↑ Entrez Gene http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=1277
Database
- Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=1277
- Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:1277
- OMIM: https://mirror.omim.org/entry/114000
- OMIM: https://mirror.omim.org/entry/120150
- OMIM: https://mirror.omim.org/entry/130000
- OMIM: https://mirror.omim.org/entry/130060
- OMIM: https://mirror.omim.org/entry/166200
- OMIM: https://mirror.omim.org/entry/166210
- OMIM: https://mirror.omim.org/entry/166220
- OMIM: https://mirror.omim.org/entry/166710
- OMIM: https://mirror.omim.org/entry/259420
- OMIM: https://mirror.omim.org/entry/607907
- UniProt: http://www.uniprot.org/uniprot/P02452.html