Biology:CGGBP1
 Generic protein structure example |
CGG triplet repeat-binding protein 1 is a protein that in humans is encoded by the CGGBP1 gene.[1][2][3]
The existence of a CGG-binding factor was recognised in 1990 and the protein was identified by Deissler and colleagues in 1997. It has 167 amino acids and a mass of 20kDa and includes a C2H2 zinc finger DNA-binding domain. The human gene is on chromosome 3 at 3p11.1, right next to the centromere, where it has four known promoters. CGGBP1 appears to have evolved from hAT transposons and is found in all amniotes.[4]
The protein binds to CGG trinucleotide repeats to regulate transcription (including inhibiting Alu elements) and translation. It is essential to cell survival, having wide cytoprotective functions including DNA repair and telomere maintenance. Because the gene's promoters include CGG repeats, it is self-regulatory.[4]
CGGBP1 influences expression of the fragile X mental retardation gene, FMR1, by specifically interacting with the CGG trinucleotide repeat in its 5-prime UTR, the untranslated regulatory region upstream of the gene's coding sequence.[3]
References
- ↑ "Rapid protein sequencing by tandem mass spectrometry and cDNA cloning of p20-CGGBP. A novel protein that binds to the unstable triplet repeat 5'-d(CGG)n-3' in the human FMR1 gene". J Biol Chem 272 (27): 16761–8. Jul 1997. doi:10.1074/jbc.272.27.16761. PMID 9201980.
- ↑ "Gene structure and expression of the 5'-(CGG)(n)-3'-binding protein (CGGBP1)". Genomics 83 (1): 106–18. Dec 2003. doi:10.1016/S0888-7543(03)00212-X. PMID 14667814.
- ↑ 3.0 3.1 "Entrez Gene: CGGBP1 CGG triplet repeat binding protein 1". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=8545.
- ↑ 4.0 4.1 Singh, Umashankar; Westermark, Bengt (2015). "CGGBP1--an indispensable protein with ubiquitous cytoprotective functions". Upsala Journal of Medical Sciences 120 (4): 219–232. doi:10.3109/03009734.2015.1086451. PMID 26482656.
Further reading
- "A deletion of 1.6 kb proximal to the CGG repeat of the FMR1 gene causes the clinical phenotype of the fragile X syndrome.". Hum. Mol. Genet. 3 (4): 615–20. 1994. doi:10.1093/hmg/3.4.615. PMID 8069307.
- "High resolution methylation analysis of the FMR1 gene trinucleotide repeat region in fragile X syndrome.". Hum. Mol. Genet. 2 (10): 1659–65. 1994. doi:10.1093/hmg/2.10.1659. PMID 8268919.
- "Purification of nuclear proteins from human HeLa cells that bind specifically to the unstable tandem repeat (CGG)n in the human FMR1 gene.". J. Biol. Chem. 271 (8): 4327–34. 1996. doi:10.1074/jbc.271.8.4327. PMID 8626781.
- "The human 20-kDa 5'-(CGG)(n)-3'-binding protein is targeted to the nucleus and affects the activity of the FMR1 promoter.". J. Biol. Chem. 275 (9): 6447–52. 2000. doi:10.1074/jbc.275.9.6447. PMID 10692448.
- "DNA cloning using in vitro site-specific recombination.". Genome Res. 10 (11): 1788–95. 2001. doi:10.1101/gr.143000. PMID 11076863.
- "Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs.". Genome Res. 11 (3): 422–35. 2001. doi:10.1101/gr.GR1547R. PMID 11230166.
- "Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing.". EMBO Rep. 1 (3): 287–92. 2001. doi:10.1093/embo-reports/kvd058. PMID 11256614.
- "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. 2003. doi:10.1073/pnas.242603899. PMID 12477932. Bibcode: 2002PNAS...9916899M.
- "The (CGG)n repeat element within the 5' untranslated region of the FMR1 message provides both positive and negative cis effects on in vivo translation of a downstream reporter.". Hum. Mol. Genet. 12 (23): 3067–74. 2004. doi:10.1093/hmg/ddg331. PMID 14519687.
- "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7. 2004. doi:10.1101/gr.2596504. PMID 15489334.
- "From ORFeome to biology: a functional genomics pipeline.". Genome Res. 14 (10B): 2136–44. 2004. doi:10.1101/gr.2576704. PMID 15489336.
- "The LIFEdb database in 2006.". Nucleic Acids Res. 34 (Database issue): D415–8. 2006. doi:10.1093/nar/gkj139. PMID 16381901.
External links
- Human CGGBP1 genome location and CGGBP1 gene details page in the UCSC Genome Browser.
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