Collagen, type XII, alpha 1

Collagen alpha-1(XII) chain is a protein that in humans is encoded by the COL12A1 gene.[5][6]

COL12A1
Identifiers
Aliases	COL12A1, BA209D8.1, COL12A1L, DJ234P15.1, BTHLM2, UCMD2, collagen type XII alpha 1, collagen type XII alpha 1 chain, EDSMYP
External IDs	OMIM: 120320 MGI: 88448 HomoloGene: 3217 GeneCards: COL12A1
Gene location (Human) Chr. Chromosome 6 (human)[1] Band 6q13-q14.1 Start 75,084,326 bp[1] End 75,206,053 bp[1]
Gene location (Mouse) Chr. Chromosome 9 (mouse)[2] Band 9 E1|9 43.82 cM Start 79,598,991 bp[2] End 79,718,831 bp[2]
Gene ontology Molecular function • extracellular matrix structural constituent conferring tensile strength Cellular component • extracellular vesicle • collagen type XII trimer • collagen • endoplasmic reticulum lumen • extracellular exosome • extracellular • extracellular matrix • extracellular region • collagen-containing extracellular matrix Biological process • collagen catabolic process • skeletal system development • cell adhesion • endodermal cell differentiation • collagen fibril organization • growth plate cartilage chondrocyte morphogenesis Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	1303	12816
Ensembl	ENSG00000111799	ENSMUSG00000032332
UniProt	Q99715	Q60847
RefSeq (mRNA)	NM_004370 NM_080645	NM_001290308 NM_007730
RefSeq (protein)	NP_004361 NP_542376	NP_001277237
Location (UCSC)	Chr 6: 75.08 – 75.21 Mb	Chr 9: 79.6 – 79.72 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

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.[6]

Clinical significance

• Ehlers-Danlos syndrome Myopathic type is associated with mutations in the COL12A1 gene

References

1. GRCh38: Ensembl release 89: ENSG00000111799 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000032332 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Gerecke DR, Olson PF, Koch M, Knoll JH, Taylor R, Hudson DL, Champliaud MF, Olsen BR, Burgeson RE (Jul 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.
6. "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. doi:10.1016/S0888-7543(05)80210-1. 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. doi:10.1083/jcb.109.2.939. PMC 2115737. 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. Bibcode:1987PNAS...84.6040G. doi:10.1073/pnas.84.17.6040. PMC 299003. 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 (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. doi:10.1111/1523-1747.ep12292122. PMID 9129225.
• 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. doi:10.1046/j.1432-1327.1998.2570362.x. 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. doi:10.1359/jbmr.2001.16.11.2005. PMID 11697796. S2CID 26927835.
• 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. doi:10.1076/ceyr.23.6.463.6971. PMID 12045897. S2CID 41275312.
• 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. PMC 139241. 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. doi:10.1016/S0006-291X(03)01344-5. 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. PMC 515316. 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. S2CID 30409158.
• 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. S2CID 28327388.
• 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. PMC 1356129. PMID 16344560.