| COL27A1 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | COL27A1, STLS, collagen type XXVII alpha 1, collagen type XXVII alpha 1 chain | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 608461; MGI: 2672118; HomoloGene: 69400; GeneCards: COL27A1; OMA:COL27A1 - orthologs | ||||||||||||||||||||||||||||||||||||||||||||||||||
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Collagen alpha-1 (XXVII) chain (COL27A1) is a protein that in humans is encoded by the COL27A1 gene.[5]
COL27A1 is a type XXVII collagen. It was discovered by James Pace.[6] 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.[5][7]
Location
COL27A1 is located on chromosome 9 in homo sapiens specifically on spot number 32.[8]
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000196739 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000045672 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ a b "Entrez Gene: collagen".
- ^ Pace JM, Corrado M, Missero C, Byers PH (March 2003). "Identification, characterization and expression analysis of a new fibrillar collagen gene, COL27A1". Matrix Biol. 22 (1): 3–14. doi:10.1016/S0945-053X(03)00007-6. PMID 12714037.
- ^ Boot-Handford RP, Tuckwell DS, Plumb DA, Rock CF, Poulsom R (August 2003). "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. doi:10.1074/jbc.M212889200. PMID 12766169.
- ^ "COL27A1 gene - Genetics Home Reference". ghr.nlm.nih.gov. Archived from the original on 2017-02-07.
Further reading
- Gudbjartsson DF, Walters GB, Thorleifsson G, et al. (2008). "Many sequence variants affecting diversity of adult human height". Nat. Genet. 40 (5): 609–15. doi:10.1038/ng.122. PMID 18391951. S2CID 3005450.
- Rose JE, Behm FM, Drgon T, et al. (2010). "Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score". Mol. Med. 16 (7–8): 247–53. doi:10.2119/molmed.2009.00159. PMC 2896464. PMID 20379614.
- 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.
- Nagase T, Nakayama M, Nakajima D, et al. (2001). "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. doi:10.1093/dnares/8.2.85. PMID 11347906.
- Jenkins E, Moss JB, Pace JM, Bridgewater LC (2005). "The new collagen gene COL27A1 contains SOX9-responsive enhancer elements". Matrix Biol. 24 (3): 177–84. doi:10.1016/j.matbio.2005.02.004. PMC 3205994. PMID 15922909.
- Strausberg RL, Feingold EA, Grouse LH, et al. (2002). "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. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
- Vieira AR, McHenry TG, Daack-Hirsch S, et al. (2008). "Candidate gene/loci studies in cleft lip/palate and dental anomalies finds novel susceptibility genes for clefts". Genet. Med. 10 (9): 668–74. doi:10.1097/GIM.0b013e3181833793. PMC 2734954. PMID 18978678.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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This page was last edited on 21 November 2023, at 21:12