COL9A1

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Type IX collagen, alpha 1
Type IX collagen, alpha 1
Ribbon model of the protein COL9A1 according to PDB  2UUR
other names
  • Alpha-1 type IX collagen
  • Collagen Alpha-1 (IX) chain
  • Type IX collagen alpha-1 chain

Existing structural data : PDB  5CTD , PDB  5CTI

Properties of human protein
Mass / length primary structure 921 amino acids , 91,869 Da
Isoforms 3
Identifier
Gene names COL9A1; EDM6, STL4, MED
External IDs
Occurrence
Parent taxon Deuterostomia
Orthologue
human House mouse
Entrez 1297 12839
Ensemble ENSG00000112280 ENSMUSG00000026147
UniProt P20849 Q05722
Refseq (mRNA) NM_001851 NM_001290691
Refseq (protein) NP_001842.3 NP_031766.3
Gene locus Chr 6: 70.22 - 70.3 Mb Chr 1: 24.18 - 24.25 Mb
PubMed search 1297 12839

Collagen type IX, alpha 1 is a fibrillenassoziiertes collagen that the gene COL9A1 is encoded. Together with the related collagen type IX, alpha 2 and collagen type IX, alpha 3, it forms heterotrimers , which in turn form collagen fibrils of type IX.

properties

Collagen type IX, alpha 1 is part of the hyaline cartilage and the vitreous body . Type IX collagen resides on the surface of collagen fibrils and is critical to cartilage integrity and stability. The N -terminal NC4 domain of COL9A1 is used to interact with various macromolecules such as proteoglycans and thrombospondin-5 .

Web links

Individual evidence

  1. ↑ A. Aszódi, EB Hunziker, BR Olsen, R. Fässler: The role of collagen II and cartilage fibril-associated molecules in skeletal development . In: Osteoarthritis Cartilage . 9, 2001, pp. 150-159. PMID 11680679 .
  2. ↑ K. Nikopoulos et al .: Autosomal Recessive Stickler Syndrome in Two Families Is Caused by Mutations in the COL9A1 Gene . In: Investigative Ophthalmology & Visual Science . 52, No. 7, July 1, 2011, pp. 4774-4779. doi : 10.1167 / iovs.10-7128 . PMID 21421862 .
  3. ^ S. Carlsen, KS Nandakumar, R. Holmdahl: Type IX collagen deficiency enhances the binding of cartilage-specific antibodies and arthritis severity . In: Arthritis Res Ther . 8, No. 4, 2006, p. 102. doi : 10.1186 / ar1989 . PMID 16813664 . PMC 1779414 (free full text).
  4. ↑ VM Leppänen, H. Tossaveinen, P. Permi, L. Lehtiö, G. Rönnholm, A. Goldman, I. Kilpelaïnen, T. Pihlajamaa: Crystal structure of the N-terminal NC4 domain of collagen IX, a zinc binding member of the laminin-neurexin-sex hormone binding globulin (LNS) domain family . In: J Biol Chem . 282, No. 32, August 10, 2007, pp. 23219-23230. doi : 10.1074 / jbc.M702514200 . PMID 17553797 .