Collagen, type IX, alpha 1

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COL9A1
Protein COL9A1 PDB 2uur.png
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesCOL9A1, DJ149L1.1.2, EDM6, MED, STL4, collagen type IX alpha 1, collagen type IX alpha 1 chain
External IDsMGI: 88465 HomoloGene: 1393 GeneCards: COL9A1
Gene location (Human)
Chromosome 6 (human)
Chr.Chromosome 6 (human)[1]
Chromosome 6 (human)
Genomic location for COL9A1
Genomic location for COL9A1
Band6q13Start70,215,061 bp[1]
End70,303,083 bp[1]
RNA expression pattern
PBB GE COL9A1 222008 at fs.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001851
NM_078485

NM_001290691
NM_007740

RefSeq (protein)

NP_001842
NP_511040

NP_001277620
NP_031766

Location (UCSC)Chr 6: 70.22 – 70.3 MbChr 1: 24.18 – 24.25 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Collagen alpha-1(IX) chain is a protein that in humans is encoded by the COL9A1 gene.[5][6]

This gene encodes one of the three alpha chains of type IX collagen, a collagen component of hyaline cartilage. Type IX collagen is usually found in tissues containing type II collagen, a fibrillar collagen. Studies in knockout mice have shown that synthesis of the alpha 1 chain is essential for assembly of type IX collagen molecules, a heterotrimeric molecule, and that lack of type IX collagen is associated with early onset osteoarthritis. Mutations in this gene may be associated with multiple epiphyseal dysplasia. Two transcript variants have been identified for this gene.[6]

References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000112280 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000026147 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:".
  4. ^ "Mouse PubMed Reference:".
  5. ^ Wu JJ, Woods PE, Eyre DR (Dec 1992). "Identification of cross-linking sites in bovine cartilage type IX collagen reveals an antiparallel type II-type IX molecular relationship and type IX to type IX bonding". J Biol Chem. 267 (32): 23007–14. PMID 1429648.
  6. ^ a b "Entrez Gene: COL9A1 collagen, type IX, alpha 1".

External links[edit]

Further reading[edit]