COL12A1

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Collagen, type XII, alpha 1
Identifiers
Symbols COL12A1 ; BA209D8.1; COL12A1L; DJ234P15.1
External IDs Template:OMIM5 Template:MGI HomoloGene3217
Orthologs
Template:GNF Ortholog box
Species Human Mouse
Entrez n/a n/a
Ensembl n/a n/a
UniProt n/a n/a
RefSeq (mRNA) n/a n/a
RefSeq (protein) n/a n/a
Location (UCSC) n/a n/a
PubMed search n/a n/a

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]

References

  1. 1.0 1.1 "Entrez Gene: COL12A1 collagen, type XII, alpha 1".

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.

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