Collagen, type X, alpha 1 explained

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. 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.^[3] 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.^[4]

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.^[5]

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.^[6]

Further reading

• Kuivaniemi H, Tromp G, Prockop DJ . 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 . 1997 . 9101290 . 10.1002/(SICI)1098-1004(1997)9:4<300::AID-HUMU2>3.0.CO;2-9 . 6890740 . free .
• Kirsch T, Pfäffle M . 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 . 1992 . 1397263 . 10.1016/0014-5793(92)81316-E . 9498732 . free .
• Reichenberger E, Beier F, LuValle P . Genomic organization and full-length cDNA sequence of human collagen X. . FEBS Lett. . 311 . 3 . 305–10 . 1992 . 1397333 . 10.1016/0014-5793(92)81126-7 . 12022346 . etal. free .
• Apte SS, Seldin MF, Hayashi M, Olsen BR . 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 . 1992 . 1587271 . 10.1111/j.1432-1033.1992.tb16919.x . free .
• Reichenberger E, Aigner T, von der Mark K . In situ hybridization studies on the expression of type X collagen in fetal human cartilage. . Dev. Biol. . 148 . 2 . 562–72 . 1992 . 1743401 . 10.1016/0012-1606(91)90274-7 . etal.
• Thomas JT, Cresswell CJ, Rash B . The human collagen X gene. Complete primary translated sequence and chromosomal localization. . Biochem. J. . 280 . 3. 617–23 . 1992 . 1764025 . 1130499 . 10.1042/bj2800617. etal.
• Bonaventure J, Chaminade F, Maroteaux P . 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 . 1995 . 7607655 . 10.1007/BF00214187 . 20888881 .
• McIntosh I, Abbott MH, Francomano CA . Concentration of mutations causing Schmid metaphyseal chondrodysplasia in the C-terminal noncollagenous domain of type X collagen. . Hum. Mutat. . 5 . 2 . 121–5 . 1995 . 7749409 . 10.1002/humu.1380050204 . 26291298 .
• Chan D, Cole WG, Rogers JG, Bateman JF . 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 . 1995 . 7876225 . 10.1074/jbc.270.9.4558 . free .
• McIntosh I, Abbott MH, Warman ML . Additional mutations of type X collagen confirm COL10A1 as the Schmid metaphyseal chondrodysplasia locus. . Hum. Mol. Genet. . 3 . 2 . 303–7 . 1994 . 8004099 . 10.1093/hmg/3.2.303 . etal.
• Dharmavaram RM, Elberson MA, Peng M . Identification of a mutation in type X collagen in a family with Schmid metaphyseal chondrodysplasia. . Hum. Mol. Genet. . 3 . 3 . 507–9 . 1994 . 8012364 . 10.1093/hmg/3.3.507 . etal.
• Warman ML, Abbott M, Apte SS . A type X collagen mutation causes Schmid metaphyseal chondrodysplasia. . Nat. Genet. . 5 . 1 . 79–82 . 1993 . 8220429 . 10.1038/ng0993-79 . 196834 . etal.
• Wallis GA, Rash B, Sweetman WA . 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 . 1994 . 8304336 . 1918153 . etal.
• Pokharel RK, Alimsardjono H, Uno K . 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 . 1996 . 8554571 . 10.1006/bbrc.1995.2890 . etal. 20.500.14094/D1001967 . free .
• Wallis GA, Rash B, Sykes B . 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 . 1996 . 8782043 . 1050629 . 10.1136/jmg.33.6.450 . etal.
• Stratakis CA, Orban Z, Burns AL . 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 . 1997 . 8986632 . 10.1006/bmme.1996.0075 . etal. free .
• Beier F, Eerola I, Vuorio E . Variability in the upstream promoter and intron sequences of the human, mouse and chick type X collagen genes. . Matrix Biol. . 15 . 6 . 415–22 . 1997 . 9049979 . 10.1016/S0945-053X(96)90160-2 . etal.
• Ikegawa S, Nakamura K, Nagano A . 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 . 1997 . 9067753 . 10.1002/(SICI)1098-1004(1997)9:2<131::AID-HUMU5>3.0.CO;2-C. 22871274 . etal. free .

Notes and References

1. Apte S, Mattei MG, Olsen BR . 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 . Jul 1991 . 2037056 . 10.1016/0014-5793(91)80521-4 . 6753444 . free .
2. Web site: Entrez Gene: COL10A1 collagen, type X, alpha 1(Schmid metaphyseal chondrodysplasia).
3. Kwan et al. 2005
4. Leitinger B, Kwan AP . The discoidin domain receptor DDR2 is a receptor for type X collagen . Matrix Biol. . 25 . 6 . 355–64 . August 2006 . 16806867 . 10.1016/j.matbio.2006.05.006 .
5. 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 . Discovery and validation of new potential biomarkers for early detection of colon cancer . September 2014 . 10.1371/journal.pone.0106748 . 25215506 . 9 . 9 . e106748 . PLOS ONE . 4162553. 2014PLoSO...9j6748S . free .
6. 10.1126/scitranslmed.aan4669. A degradation fragment of type X collagen is a real-time marker for bone growth velocity. 2017. 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.. Science Translational Medicine. 9. 419. eaan4669. 29212713. 6516194.