Search
collagen 9 alpha-3 (COL9A3)
Function:
- structural component of hyaline cartilage & vitreous of the eye
- covalently linked to the telopeptides of type 2 collagen by Lys-derived cross-links
- Pro at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains
- heterotrimer of an COL9A1, COL9A2 & COL9A3
Structure:
- belongs to the fibril-associated collagens with interrupted helices (FACIT) family
Compartment:
- secreted, extracellular space, extracellular matrix (putative)
Pathology:
- defects in COL9A3 are the cause of multiple epiphyseal dysplasia type 3
- defects in COL9A3 are a cause of susceptibility to intervertebral disk disease
General
collagen subunit
glycoprotein
Properties
SIZE: entity length = 684 aa
MW = 64 kD
MOTIF: signal sequence {1-25}
Triple-helical region 3 (COL3) {29-519}
MOTIF: Cell attachment site {423-425}
N-glycosylation site {N483}
Nonhelical region 3 (NC3) {520-550}
Triple-helical region 2 (COL2) {551-630}
MOTIF: Cell attachment site {601-603}
Nonhelical region 2 (NC2) {631-632}
Triple-helical region 1 (COL1) {633-661}
Nonhelical region 1 (NC1) {662-684}
Database Correlations
OMIM correlations
MORBIDMAP 120270
UniProt Q14050
Pfam PF01391
Entrez Gene 1299
Kegg hsa:1299
References
- UniProt :accession Q14050
- GeneReviews
http://www.ncbi.nlm.nih.gov/sites/genetests/lab/gene/COL9A3
- Molecular Cell Biology (2nd ed) Darnell J; Lodish H
& Baltimore D (eds), Scientific American Books,
WH Freeman, NY 1990, pg 906
- Entrez Gene :accession 1299
Component-of
collagen type-9 (FACIT collagen)