Collagen, type X, alpha 1
| Collagen, type X, alpha 1 | |||||||||||||
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 PDB rendering based on 1gr3. | |||||||||||||
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| Identifiers | |||||||||||||
| Symbol | COL10A1 | ||||||||||||
| External IDs | OMIM: 120110 MGI: 88445 HomoloGene: 55466 GeneCards: COL10A1 Gene | ||||||||||||
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| 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: 116.44 – 116.48 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
- ↑ 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.
- ↑ 2.0 2.1 "Entrez Gene: COL10A1 collagen, type X, alpha 1(Schmid metaphyseal chondrodysplasia)".
- ↑ 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.
- ↑ 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
- Kuivaniemi H, Tromp G, Prockop DJ (1997). "Mutations in fibrillar collagens (types I, II, III, and XI), fibril-associated collagen (type IX), and network-forming collagen (type X) cause a spectrum of diseases of bone, cartilage, and blood vessels.". Hum. Mutat. 9 (4): 300–15. doi:10.1002/(SICI)1098-1004(1997)9:4<300::AID-HUMU2>3.0.CO;2-9. PMID 9101290.
- Kirsch T, Pfäffle M (1992). "Selective binding of anchorin CII (annexin V) to type II and X collagen and to chondrocalcin (C-propeptide of type II collagen). Implications for anchoring function between matrix vesicles and matrix proteins.". FEBS Lett. 310 (2): 143–7. doi:10.1016/0014-5793(92)81316-E. PMID 1397263.
- Reichenberger E, Beier F, LuValle P et al. (1992). "Genomic organization and full-length cDNA sequence of human collagen X.". FEBS Lett. 311 (3): 305–10. doi:10.1016/0014-5793(92)81126-7. PMID 1397333.
- Apte SS, Seldin MF, Hayashi M, Olsen BR (1992). "Cloning of the human and mouse type X collagen genes and mapping of the mouse type X collagen gene to chromosome 10.". Eur. J. Biochem. 206 (1): 217–24. doi:10.1111/j.1432-1033.1992.tb16919.x. PMID 1587271.
- Reichenberger E, Aigner T, von der Mark K et al. (1992). "In situ hybridization studies on the expression of type X collagen in fetal human cartilage.". Dev. Biol. 148 (2): 562–72. doi:10.1016/0012-1606(91)90274-7. PMID 1743401.
- Thomas JT, Cresswell CJ, Rash B et al. (1992). "The human collagen X gene. Complete primary translated sequence and chromosomal localization.". Biochem. J. 280 (3): 617–23. PMC 1130499. PMID 1764025.
- Bonaventure J, Chaminade F, Maroteaux P (1995). "Mutations in three subdomains of the carboxy-terminal region of collagen type X account for most of the Schmid metaphyseal dysplasias.". Hum. Genet. 96 (1): 58–64. doi:10.1007/BF00214187. PMID 7607655.
- McIntosh I, Abbott MH, Francomano CA (1995). "Concentration of mutations causing Schmid metaphyseal chondrodysplasia in the C-terminal noncollagenous domain of type X collagen.". Hum. Mutat. 5 (2): 121–5. doi:10.1002/humu.1380050204. PMID 7749409.
- Chan D, Cole WG, Rogers JG, Bateman JF (1995). "Type X collagen multimer assembly in vitro is prevented by a Gly618 to Val mutation in the alpha 1(X) NC1 domain resulting in Schmid metaphyseal chondrodysplasia.". J. Biol. Chem. 270 (9): 4558–62. doi:10.1074/jbc.270.9.4558. PMID 7876225.
- McIntosh I, Abbott MH, Warman ML et al. (1994). "Additional mutations of type X collagen confirm COL10A1 as the Schmid metaphyseal chondrodysplasia locus.". Hum. Mol. Genet. 3 (2): 303–7. doi:10.1093/hmg/3.2.303. PMID 8004099.
- Dharmavaram RM, Elberson MA, Peng M et al. (1994). "Identification of a mutation in type X collagen in a family with Schmid metaphyseal chondrodysplasia.". Hum. Mol. Genet. 3 (3): 507–9. doi:10.1093/hmg/3.3.507. PMID 8012364.
- Warman ML, Abbott M, Apte SS et al. (1993). "A type X collagen mutation causes Schmid metaphyseal chondrodysplasia.". Nat. Genet. 5 (1): 79–82. doi:10.1038/ng0993-79. PMID 8220429.
- Wallis GA, Rash B, Sweetman WA et al. (1994). "Amino acid substitutions of conserved residues in the carboxyl-terminal domain of the alpha 1(X) chain of type X collagen occur in two unrelated families with metaphyseal chondrodysplasia type Schmid.". Am. J. Hum. Genet. 54 (2): 169–78. PMC 1918153. PMID 8304336.
- Pokharel RK, Alimsardjono H, Uno K et al. (1996). "A novel mutation substituting tryptophan with arginine in the carboxyl-terminal, non-collagenous domain of collagen X in a case of Schmid metaphyseal chondrodysplasia.". Biochem. Biophys. Res. Commun. 217 (3): 1157–62. doi:10.1006/bbrc.1995.2890. PMID 8554571.
- Wallis GA, Rash B, Sykes B et al. (1996). "Mutations within the gene encoding the alpha 1 (X) chain of type X collagen (COL10A1) cause metaphyseal chondrodysplasia type Schmid but not several other forms of metaphyseal chondrodysplasia.". J. Med. Genet. 33 (6): 450–7. doi:10.1136/jmg.33.6.450. PMC 1050629. PMID 8782043.
- Stratakis CA, Orban Z, Burns AL et al. (1997). "Dideoxyfingerprinting (ddF) analysis of the type X collagen gene (COL10A1) and identification of a novel mutation (S671P) in a kindred with Schmid metaphyseal chondrodysplasia.". Biochem. Mol. Med. 59 (2): 112–7. doi:10.1006/bmme.1996.0075. PMID 8986632.
- Beier F, Eerola I, Vuorio E et al. (1997). "Variability in the upstream promoter and intron sequences of the human, mouse and chick type X collagen genes.". Matrix Biol. 15 (6): 415–22. doi:10.1016/S0945-053X(96)90160-2. PMID 9049979.
- Ikegawa S, Nakamura K, Nagano A et al. (1997). "Mutations in the N-terminal globular domain of the type X collagen gene (COL10A1) in patients with Schmid metaphyseal chondrodysplasia.". Hum. Mutat. 9 (2): 131–5. doi:10.1002/(SICI)1098-1004(1997)9:2<131::AID-HUMU5>3.0.CO;2-C. PMID 9067753.
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