Collagen, type X, alpha 1

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Collagen, type X, alpha 1
Protein COL10A1 PDB 1gr3.png
PDB rendering based on 1gr3.
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbol COL10A1
External IDs OMIM120110 MGI88445 HomoloGene55466 GeneCards: COL10A1 Gene
RNA expression pattern
PBB GE COL10A1 217428 s at tn.png
PBB GE COL10A1 205941 s at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 1300 12813
Ensembl ENSG00000123500 ENSMUSG00000039462
UniProt Q03692 Q05306
RefSeq (mRNA) NM_000493 NM_009925
RefSeq (protein) NP_000484 NP_034055
Location (UCSC) Chr 6:
116.44 – 116.48 Mb
Chr 10:
34.39 – 34.4 Mb
PubMed search [1] [2]

Collagen alpha-1(X) chain is a protein that in humans is a member of the collagen family encoded by the COL10A1 gene.[1][2]

This gene encodes the alpha chain of type X collagen, a short chain collagen expressed by hypertrophic chondrocytes during endochondral ossification. Unlike type VIII collagen, the other short chain collagen, type X collagen is a homotrimer. Mutations in this gene are associated with Schmid type metaphyseal chondrodysplasia (SMCD) and Japanese type spondylometaphyseal dysplasia (SMD).[2]

DDR2 is a collagen receptor for it.[3]

References[edit]

  1. ^ Apte S, Mattei MG, Olsen BR (Jul 1991). "Cloning of human alpha 1(X) collagen DNA and localization of the COL10A1 gene to the q21-q22 region of human chromosome 6". FEBS Lett 282 (2): 393–6. doi:10.1016/0014-5793(91)80521-4. PMID 2037056. 
  2. ^ a b "Entrez Gene: COL10A1 collagen, type X, alpha 1(Schmid metaphyseal chondrodysplasia)". 
  3. ^ Leitinger B, Kwan AP (August 2006). "The discoidin domain receptor DDR2 is a receptor for type X collagen". Matrix Biol. 25 (6): 355–64. doi:10.1016/j.matbio.2006.05.006. PMID 16806867. 

Further reading[edit]