Collagen, type XXVII, alpha 1 explained

Collagen alpha-1 (XXVII) chain (COL27A1) is a protein that in humans is encoded by the COL27A1 gene.^[1]

COL27A1 is a type XXVII collagen. It was discovered by James Pace.^[2] This gene appears to be turned on in cartilage, the eye, and in the ear. Type XXVII collagen is related to the "fibrillar" class of collagens and may play a role in development of the skeleton.

Fibrillar collagens, such as COL27A1, compose one of the most ancient families of extracellular matrix molecules. They form major structural elements in extracellular matrices of cartilage, skin, and tendon.^{[1] [3]}

Location

COL27A1 is located on chromosome 9 in homo sapiens specifically on spot number 32.^[4]

Further reading

• Gudbjartsson DF, Walters GB, Thorleifsson G . Many sequence variants affecting diversity of adult human height. . Nat. Genet. . 40 . 5 . 609–15 . 2008 . 18391951 . 10.1038/ng.122 . 3005450 . etal.
• Rose JE, Behm FM, Drgon T . Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. . Mol. Med. . 16 . 7–8 . 247–53 . 2010. 20379614 . 10.2119/molmed.2009.00159 . 2896464. etal.
• Ota T, Suzuki Y, Nishikawa T . Complete sequencing and characterization of 21,243 full-length human cDNAs. . Nat. Genet. . 36 . 1 . 40–5 . 2004 . 14702039 . 10.1038/ng1285 . etal. free .
• Nagase T, Nakayama M, Nakajima D . Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. . DNA Res. . 8 . 2 . 85–95 . 2001 . 11347906 . 10.1093/dnares/8.2.85. etal. free .
• Jenkins E, Moss JB, Pace JM, Bridgewater LC . The new collagen gene COL27A1 contains SOX9-responsive enhancer elements. . Matrix Biol. . 24 . 3 . 177–84 . 2005 . 15922909 . 10.1016/j.matbio.2005.02.004 . 3205994.
• Strausberg RL, Feingold EA, Grouse LH . 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 . 2002 . 12477932 . 10.1073/pnas.242603899 . 139241. 2002PNAS...9916899M . etal. free .
• Vieira AR, McHenry TG, Daack-Hirsch S . Candidate gene/loci studies in cleft lip/palate and dental anomalies finds novel susceptibility genes for clefts. . Genet. Med. . 10 . 9 . 668–74 . 2008 . 18978678 . 10.1097/GIM.0b013e3181833793 . 2734954. etal.

Notes and References

1. Web site: Entrez Gene: collagen.
2. Pace JM, Corrado M, Missero C, Byers PH . Identification, characterization and expression analysis of a new fibrillar collagen gene, COL27A1 . Matrix Biol. . 22 . 1 . 3–14 . March 2003 . 12714037 . 10.1016/S0945-053X(03)00007-6.
3. Boot-Handford RP, Tuckwell DS, Plumb DA, Rock CF, Poulsom R . A novel and highly conserved collagen (pro(alpha)1(XXVII)) with a unique expression pattern and unusual molecular characteristics establishes a new clade within the vertebrate fibrillar collagen family . J. Biol. Chem. . 278 . 33 . 31067–77 . August 2003 . 12766169 . 10.1074/jbc.M212889200 . free .
4. Web site: COL27A1 gene - Genetics Home Reference . ghr.nlm.nih.gov . dead . https://web.archive.org/web/20170207213921/https://ghr.nlm.nih.gov/gene/COL27A1 . 2017-02-07.