Collagen, type X, alpha 1

Collagen alpha-1(X) chain is a protein that in humans is a member of the collagen family encoded by the COL10A1 gene.[5][6]

COL10A1
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesCOL10A1, collagen type X alpha 1 chain
External IDsOMIM: 120110 MGI: 88445 HomoloGene: 55466 GeneCards: COL10A1
Gene location (Human)
Chr.Chromosome 6 (human)[1]
Band6q22.1Start116,118,909 bp[1]
End116,158,747 bp[1]
RNA expression pattern


More reference expression data
Orthologs
SpeciesHumanMouse
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 MbChr 10: 34.39 – 34.4 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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. Type X collagen has a short triple helical collagen domain flanked by the N-terminal NC2 and the C-terminal NC1 domains. The C-terminal NC1 domain has complement C1q-like structure. Collagen X forms hexamer complexes through the association of NC1 regions.[7] Mutations in this gene are associated with Schmid type metaphyseal chondrodysplasia (SMCD) and Japanese type spondylometaphyseal dysplasia (SMD).[6]

DDR2 is a collagen receptor for it.[8]

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.[9]

Collagen alpha-1(X) undergoes degradation in the active growth plate releasing an intact NC1 region with a small amount of collagenous region attached. This degradation byproduct has been deemed CXM and has potential to be a useful biomarker to assess real time growth velocity in children and fracture healing in adults.[10]

References

  1. GRCh38: Ensembl release 89: ENSG00000123500 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000039462 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. 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. S2CID 6753444.
  6. "Entrez Gene: COL10A1 collagen, type X, alpha 1(Schmid metaphyseal chondrodysplasia)".
  7. Kwan et al. 2005
  8. 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.
  9. 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 (9): e106748. Bibcode:2014PLoSO...9j6748S. doi:10.1371/journal.pone.0106748. PMC 4162553. PMID 25215506.
  10. http://stm.sciencemag.org/content/9/419/eaan4669

Further reading


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