Collagen, type X, alpha 1

Collagen, type X, alpha 1

PDB rendering based on 1gr3.
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbol COL10A1
External IDs OMIM: 120110 MGI: 88445 HomoloGene: 55466 GeneCards: COL10A1 Gene
RNA expression pattern
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:
116.12 – 116.16 Mb
Chr 10:
34.39 – 34.4 Mb
PubMed search

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]

Recent studies into the early detection of colon cancer have identified COL10A1 protein levels in serum as a potential diagnostic biomarker candidate to detect both adenoma lesions and tumor.[4]


References

  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. 1 2 "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.
  4. Solé X, Crous-Bou M, Cordero D, Olivares D, Guinó E, Sanz-Pamplona R, Rodriguez-Moranta F, Sanjuan X, de Oca J, Salazar R, Moreno V (September 2014). "Discovery and validation of new potential biomarkers for early detection of colon cancer". PLoS ONE 9: e106748. doi:10.1371/journal.pone.0106748. PMID 25215506.

Further reading

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