COL10A1

From Wikipedia, the free encyclopedia

Collagen, type X, alpha 1(Schmid metaphyseal chondrodysplasia)

PDB rendering based on 1gr3.

Available structures: 1gr3

Identifiers

Symbol(s)

COL10A1;

External IDs

OMIM: 120110 MGI: 88445 HomoloGene: 55466

Gene ontology
Molecular Function:	• structural molecule activity • calcium ion binding
Cellular Component:	• collagen • cytoplasm
Biological Process:	• skeletal development • phosphate transport

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_000493 (mRNA)
NP_000484 (protein)

NM_009925 (mRNA)
NP_034055 (protein)

Location

Chr 6: 116.55 - 116.55 Mb

Chr 10: 34.08 - 34.09 Mb

Pubmed search

[1]

[2]

Collagen, type X, alpha 1(Schmid metaphyseal chondrodysplasia), also known as COL10A1, is a human gene.^[1]

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).^[1]

[edit] References

^ ^a ^b Entrez Gene: COL10A1 collagen, type X, alpha 1(Schmid metaphyseal chondrodysplasia).

[edit] 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. 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. 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. 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. 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 ( Pt 3): 617–23. PMID 1764025.
Apte S, Mattei MG, Olsen BR (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. PMID 2037056.
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. 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. 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. 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. 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. 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. 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. 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. 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.