Collagen, type X, alpha 1

COL10A1
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
Aliases COL10A1
External IDs MGI: 88445 HomoloGene: 55466 GeneCards: COL10A1
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_000484.2

NP_034055.1

Location (UCSC) Chr 6: 116.12 – 116.16 Mb Chr 10: 34.39 – 34.4 Mb
PubMed search [1] [2]
Wikidata
View/Edit HumanView/Edit Mouse

Collagen alpha-1(X) chain is a protein that in humans is a member of the collagen family encoded by the COL10A1 gene.[3][4]

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).[4]

DDR2 is a collagen receptor for it.[5]

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.[6]

References

  1. "Human PubMed Reference:".
  2. "Mouse PubMed Reference:".
  3. 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.
  4. 1 2 "Entrez Gene: COL10A1 collagen, type X, alpha 1(Schmid metaphyseal chondrodysplasia)".
  5. 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.
  6. 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. PMC 4162553Freely accessible. PMID 25215506.

Further reading


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