COL10A1

Collagen, type X, alpha 1

Collagen, type X, alpha 1

Protein found in humans

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]

Quick Facts COL10A1, Available structures ...

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. [1]
    GRCh38: Ensembl release 89: ENSG00000123500 – Ensembl, May 2017
  2. [2]
    GRCm38: Ensembl release 89: ENSMUSG00000039462 – Ensembl, May 2017
  3. [3]
    "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. [4]
    "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. [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. [6]
    "Entrez Gene: COL10A1 collagen, type X, alpha 1(Schmid metaphyseal chondrodysplasia)".
  7. [7]
    Kwan et al. 2005
  8. [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. [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. [10]
    Coghlan, Ryan F.; Oberdorf, Jon A.; Sienko, Susan; Aiona, Michael D.; Boston, Bruce A.; Connelly, Kara J.; Bahney, Chelsea; Larouche, Jeremie; Almubarak, Sarah M.; Coleman, Daniel T.; Girkontaite, Irute; von Der Mark, Klaus; Lunstrum, Gregory P.; Horton, William A. (2017). "A degradation fragment of type X collagen is a real-time marker for bone growth velocity". Science Translational Medicine. 9 (419): eaan4669. doi:10.1126/scitranslmed.aan4669. PMC 6516194. PMID 29212713.

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