Collagen, type X, alpha 1

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COL10A1
Protein COL10A1 PDB 1gr3.png
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesCOL10A1, collagen type X alpha 1 chain
External IDsMGI: 88445 HomoloGene: 55466 GeneCards: COL10A1
Gene location (Human)
Chromosome 6 (human)
Chr.Chromosome 6 (human)[1]
Chromosome 6 (human)
Genomic location for COL10A1
Genomic location for COL10A1
Band6q22.1Start116,118,923 bp[1]
End116,158,747 bp[1]
RNA expression pattern
PBB GE COL10A1 217428 s at fs.png

PBB GE COL10A1 205941 s at fs.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
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

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]

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).[6]

DDR2 is a collagen receptor for it.[7]

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.[8]

References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000123500 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000039462 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". 
  4. ^ "Mouse PubMed Reference:". 
  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. 
  6. ^ a b "Entrez Gene: COL10A1 collagen, type X, alpha 1(Schmid metaphyseal chondrodysplasia)". 
  7. ^ 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. 
  8. ^ 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[edit]