COL12A1

From Wikipedia, the free encyclopedia

Collagen, type XII, alpha 1

Identifiers

COL12A1; BA209D8.1; COL12A1L; DJ234P15.1

External IDs

OMIM: 120320 MGI: 88448 HomoloGene: 3217

Gene ontology
Molecular Function:	• structural molecule activity • protein binding • extracellular matrix structural constituent conferring tensile strength
Cellular Component:	• proteinaceous extracellular matrix • collagen type XII • cytoplasm
Biological Process:	• skeletal development • phosphate transport • cell adhesion • collagen fibril organization

Orthologs

Human

Mouse

Refseq

NM_004370 (mRNA)
NP_004361 (protein)

NM_007730 (mRNA)
NP_031756 (protein)

Location

Chr 6: 75.85 - 75.97 Mb

Chr 9: 79.39 - 79.5 Mb

Pubmed search

[1]

[2]

Collagen, type XII, alpha 1, also known as COL12A1, is a human gene.^[1]

This gene encodes the alpha chain of type XII collagen, a member of the FACIT (fibril-associated collagens with interrupted triple helices) collagen family. Type XII collagen is a homotrimer found in association with type I collagen, an association that is thought to modify the interactions between collagen I fibrils and the surrounding matrix. Alternatively spliced transcript variants encoding different isoforms have been identified.^[1]

[edit] References

^ ^a ^b Entrez Gene: COL12A1 collagen, type XII, alpha 1.

[edit] Further reading

Oh SP, Taylor RW, Gerecke DR, et al. (1992). "The mouse alpha 1(XII) and human alpha 1(XII)-like collagen genes are localized on mouse chromosome 9 and human chromosome 6.". Genomics 14 (2): 225–31. PMID 1427837.
Sugrue SP, Gordon MK, Seyer J, et al. (1989). "Immunoidentification of type XII collagen in embryonic tissues.". J. Cell Biol. 109 (2): 939–45. PMID 2668306.
Gordon MK, Gerecke DR, Olsen BR (1987). "Type XII collagen: distinct extracellular matrix component discovered by cDNA cloning.". Proc. Natl. Acad. Sci. U.S.A. 84 (17): 6040–4. PMID 3476925.
Wälchli C, Koch M, Chiquet M, et al. (1994). "Tissue-specific expression of the fibril-associated collagens XII and XIV.". J. Cell. Sci. 107 ( Pt 2): 669–81. PMID 8207089.
Berthod F, Germain L, Guignard R, et al. (1997). "Differential expression of collagens XII and XIV in human skin and in reconstructed skin.". J. Invest. Dermatol. 108 (5): 737–42. PMID 9129225.
Gerecke DR, Olson PF, Koch M, et al. (1997). "Complete primary structure of two splice variants of collagen XII, and assignment of alpha 1(XII) collagen (COL12A1), alpha 1(IX) collagen (COL9A1), and alpha 1(XIX) collagen (COL19A1) to human chromosome 6q12-q13.". Genomics 41 (2): 236–42. doi:10.1006/geno.1997.4638. PMID 9143499.
Wessel H, Anderson S, Fite D, et al. (1997). "Type XII collagen contributes to diversities in human corneal and limbal extracellular matrices.". Invest. Ophthalmol. Vis. Sci. 38 (11): 2408–22. PMID 9344363.
Chiquet M, Mumenthaler U, Wittwer M, et al. (1998). "The chick and human collagen alpha1(XII) gene promoter--activity of highly conserved regions around the first exon and in the first intron.". Eur. J. Biochem. 257 (2): 362–71. PMID 9826181.
Trächslin J, Koch M, Chiquet M (1999). "Rapid and reversible regulation of collagen XII expression by changes in tensile stress.". Exp. Cell Res. 247 (2): 320–8. doi:10.1006/excr.1998.4363. PMID 10066359.
Gregory KE, Keene DR, Tufa SF, et al. (2002). "Developmental distribution of collagen type XII in cartilage: association with articular cartilage and the growth plate.". J. Bone Miner. Res. 16 (11): 2005–16. PMID 11697796.
Saika S, Miyamoto T, Tanaka T, et al. (2002). "Collagens XII and XIV (FACITs) in capsular opacification and in cultured lens epithelial cells.". Curr. Eye Res. 23 (6): 463–8. PMID 12045897.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.
Jin X, Iwasa S, Okada K, et al. (2003). "Shear stress-induced collagen XII expression is associated with atherogenesis.". Biochem. Biophys. Res. Commun. 308 (1): 152–8. PMID 12890494.
Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs.". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
Suzuki Y, Yamashita R, Shirota M, et al. (2004). "Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions.". Genome Res. 14 (9): 1711–8. doi:10.1101/gr.2435604. PMID 15342556.
Thierry L, Geiser AS, Hansen A, et al. (2005). "Collagen types XII and XIV are present in basement membrane zones during human embryonic development.". J. Mol. Histol. 35 (8-9): 803–10. doi:10.1007/s10735-004-1132-y. PMID 15609093.
Storlazzi CT, Wozniak A, Panagopoulos I, et al. (2006). "Rearrangement of the COL12A1 and COL4A5 genes in subungual exostosis: molecular cytogenetic delineation of the tumor-specific translocation t(X;6)(q13-14;q22).". Int. J. Cancer 118 (8): 1972–6. doi:10.1002/ijc.21586. PMID 16284948.
Kimura K, Wakamatsu A, Suzuki Y, et al. (2006). "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.". Genome Res. 16 (1): 55–65. doi:10.1101/gr.4039406. PMID 16344560.