Search
collagen 9 alpha-1 (COL9A1)
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 COL9A1, COL9A2 & COL9A3
Structure:
- each subunit is composed of three triple-helical domains interspersed with non-collagenous domains
- the globular domain at the N-terminus of type 9 collagen represents the NC4 domain which may participate in electrostatic interactions with polyanionic glycosaminoglycans in cartilage
- belongs to the fibril-associated collagens with interrupted helices (FACIT) family
- contains 1 TSP N-terminal (TSPN) domain
Compartment:
- secreted, extracellular space, extracellular matrix (putative)
Alternative splicing:
- named isoforms=3
- additional isoforms seem to exist
Pathology:
- defects in COL9A1 are the cause of:
a) multiple epiphyseal dysplasia type 6
b) Stickler syndrome type 4
General
collagen subunit
glycoprotein
Properties
SIZE: entity length = 921 aa
MW = 92 kD
MOTIF: signal sequence {1-23}
Nonhelical region (NC4) {24-268}
MOTIF: cysteine residue {C44}
MODIFICATION: cysteine residue {C242}
TSP N-terminal {50-244}
N-glycosylation site {N171}
cysteine residue {C198}
MODIFICATION: cysteine residue {C252}
Zn+2-binding site
SITE: 213-213
Zn+2-binding site
SITE: 215-215
cysteine residue {C242}
MODIFICATION: cysteine residue {C44}
cysteine residue {C252}
MODIFICATION: cysteine residue {C198}
Zn+2-binding site
SITE: 253-253
Triple-helical region (COL3) {269-405}
Nonhelical region (NC3) {406-417}
MOTIF: cysteine residue {C411}
MODIFICATION: cysteine residue {C-INTERCHAIN}
cysteine residue {C415}
MODIFICATION: cysteine residue {C-INTERCHAIN}
Triple-helical region (COL2) {418-756}
Nonhelical region (NC2) {757-786}
Triple-helical region (COL1) {787-901}
Nonhelical region (NC1) {902-921}
Database Correlations
OMIM correlations
UniProt P20849
Pfam PF01391
Entrez Gene 1297
Kegg hsa:1297
References
- UniProt :accession P20849
- GeneReviews
http://www.ncbi.nlm.nih.gov/sites/genetests/lab/gene/COL9A1
- Molecular Cell Biology (2nd ed) Darnell J; Lodish H
& Baltimore D (eds), Scientific American Books,
WH Freeman, NY 1990, pg 906
- OMIM :accession 120210
- Entrez Gene :accession 1297
Component-of
collagen type-9 (FACIT collagen)