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{{ | '''CGG triplet repeat-binding protein 1''' is a [[protein]] that in humans is encoded by the ''CGGBP1'' [[gene]].<ref name="pmid9201980">{{cite journal | vauthors = Deissler H, Wilm M, Genc B, Schmitz B, Ternes T, Naumann F, Mann M, Doerfler W | title = 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 | journal = J Biol Chem | volume = 272 | issue = 27 | pages = 16761–8 |date=Jul 1997 | pmid = 9201980 | pmc = | doi =10.1074/jbc.272.27.16761 }}</ref><ref name="pmid14667814">{{cite journal | vauthors = Naumann F, Remus R, Schmitz B, Doerfler W | title = Gene structure and expression of the 5'-(CGG)(n)-3'-binding protein (CGGBP1) | journal = Genomics | volume = 83 | issue = 1 | pages = 106–18 |date=Dec 2003 | pmid = 14667814 | pmc = | doi =10.1016/S0888-7543(03)00212-X }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: CGGBP1 CGG triplet repeat binding protein 1| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=8545| accessdate = }}</ref> | ||
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| summary_text = CGGBP1 influences expression of the fragile X mental retardation gene, FMR1 (MIM 309550), by specifically interacting with the 5-prime (CGG)n-3-prime repeat in its 5-prime UTR.[supplied by OMIM]<ref name="entrez" | | summary_text = CGGBP1 influences expression of the fragile X mental retardation gene, FMR1 (MIM 309550), by specifically interacting with the 5-prime (CGG)n-3-prime repeat in its 5-prime UTR.[supplied by OMIM]<ref name="entrez"/> | ||
}} | }} | ||
==References== | ==References== | ||
{{reflist| | {{reflist}} | ||
==External links== | |||
* {{UCSC gene info|CGGBP1}} | |||
==Further reading== | ==Further reading== | ||
{{refbegin | 2}} | {{refbegin | 2}} | ||
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| citations = | | citations = | ||
*{{cite journal | | *{{cite journal | vauthors=Meijer H, de Graaff E, Merckx DM |title=A deletion of 1.6 kb proximal to the CGG repeat of the FMR1 gene causes the clinical phenotype of the fragile X syndrome. |journal=Hum. Mol. Genet. |volume=3 |issue= 4 |pages= 615–20 |year= 1994 |pmid= 8069307 |doi=10.1093/hmg/3.4.615 |display-authors=etal}} | ||
*{{cite journal | | *{{cite journal | vauthors=Hornstra IK, Nelson DL, Warren ST, Yang TP |title=High resolution methylation analysis of the FMR1 gene trinucleotide repeat region in fragile X syndrome. |journal=Hum. Mol. Genet. |volume=2 |issue= 10 |pages= 1659–65 |year= 1994 |pmid= 8268919 |doi=10.1093/hmg/2.10.1659 }} | ||
*{{cite journal | | *{{cite journal | vauthors=Deissler H, Behn-Krappa A, Doerfler W |title=Purification of nuclear proteins from human HeLa cells that bind specifically to the unstable tandem repeat (CGG)n in the human FMR1 gene. |journal=J. Biol. Chem. |volume=271 |issue= 8 |pages= 4327–34 |year= 1996 |pmid= 8626781 |doi=10.1074/jbc.271.8.4327 }} | ||
*{{cite journal | vauthors=Müller-Hartmann H, Deissler H, Naumann F |title=The human 20-kDa 5'-(CGG)(n)-3'-binding protein is targeted to the nucleus and affects the activity of the FMR1 promoter. |journal=J. Biol. Chem. |volume=275 |issue= 9 |pages= 6447–52 |year= 2000 |pmid= 10692448 |doi=10.1074/jbc.275.9.6447 |display-authors=etal}} | |||
*{{cite journal | | *{{cite journal | vauthors=Hartley JL, Temple GF, Brasch MA |title=DNA cloning using in vitro site-specific recombination. |journal=Genome Res. |volume=10 |issue= 11 |pages= 1788–95 |year= 2001 |pmid= 11076863 |doi=10.1101/gr.143000 | pmc=310948 }} | ||
*{{cite journal | | *{{cite journal | vauthors=Wiemann S, Weil B, Wellenreuther R |title=Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. |journal=Genome Res. |volume=11 |issue= 3 |pages= 422–35 |year= 2001 |pmid= 11230166 |doi= 10.1101/gr.GR1547R | pmc=311072 |display-authors=etal}} | ||
*{{cite journal | | *{{cite journal | vauthors=Simpson JC, Wellenreuther R, Poustka A |title=Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing. |journal=EMBO Rep. |volume=1 |issue= 3 |pages= 287–92 |year= 2001 |pmid= 11256614 |doi= 10.1093/embo-reports/kvd058 | pmc=1083732 |display-authors=etal}} | ||
*{{cite journal | | *{{cite journal | vauthors=Strausberg RL, Feingold EA, Grouse LH |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 | pmc=139241 |display-authors=etal}} | ||
*{{cite journal | | *{{cite journal | vauthors=Chen LS, Tassone F, Sahota P, Hagerman PJ |title=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. |journal=Hum. Mol. Genet. |volume=12 |issue= 23 |pages= 3067–74 |year= 2004 |pmid= 14519687 |doi= 10.1093/hmg/ddg331 }} | ||
*{{cite journal | | *{{cite journal | vauthors=Gerhard DS, Wagner L, Feingold EA |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 | pmc=528928 |display-authors=etal}} | ||
*{{cite journal | | *{{cite journal | vauthors=Wiemann S, Arlt D, Huber W |title=From ORFeome to biology: a functional genomics pipeline. |journal=Genome Res. |volume=14 |issue= 10B |pages= 2136–44 |year= 2004 |pmid= 15489336 |doi= 10.1101/gr.2576704 | pmc=528930 |display-authors=etal}} | ||
*{{cite journal | vauthors=Mehrle A, Rosenfelder H, Schupp I |title=The LIFEdb database in 2006. |journal=Nucleic Acids Res. |volume=34 |issue= Database issue |pages= D415–8 |year= 2006 |pmid= 16381901 |doi= 10.1093/nar/gkj139 | pmc=1347501 |display-authors=etal}} | |||
*{{cite journal | | |||
*{{cite journal | | |||
}} | }} | ||
{{refend}} | {{refend}} | ||
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Revision as of 09:37, 30 August 2017
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External IDs | GeneCards: [1] | ||||||
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Species | Human | Mouse | |||||
Entrez |
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UniProt |
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Location (UCSC) | n/a | n/a | |||||
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CGG triplet repeat-binding protein 1 is a protein that in humans is encoded by the CGGBP1 gene.[1][2][3]
CGGBP1 influences expression of the fragile X mental retardation gene, FMR1 (MIM 309550), by specifically interacting with the 5-prime (CGG)n-3-prime repeat in its 5-prime UTR.[supplied by OMIM][3]
References
- ↑ Deissler H, Wilm M, Genc B, Schmitz B, Ternes T, Naumann F, Mann M, Doerfler W (Jul 1997). "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. doi:10.1074/jbc.272.27.16761. PMID 9201980.
- ↑ Naumann F, Remus R, Schmitz B, Doerfler W (Dec 2003). "Gene structure and expression of the 5'-(CGG)(n)-3'-binding protein (CGGBP1)". Genomics. 83 (1): 106–18. doi:10.1016/S0888-7543(03)00212-X. PMID 14667814.
- ↑ 3.0 3.1 "Entrez Gene: CGGBP1 CGG triplet repeat binding protein 1".
External links
- Human CGGBP1 genome location and CGGBP1 gene details page in the UCSC Genome Browser.
Further reading
- Meijer H, de Graaff E, Merckx DM, et al. (1994). "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. doi:10.1093/hmg/3.4.615. PMID 8069307.
- Hornstra IK, Nelson DL, Warren ST, Yang TP (1994). "High resolution methylation analysis of the FMR1 gene trinucleotide repeat region in fragile X syndrome". Hum. Mol. Genet. 2 (10): 1659–65. doi:10.1093/hmg/2.10.1659. PMID 8268919.
- Deissler H, Behn-Krappa A, Doerfler W (1996). "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. doi:10.1074/jbc.271.8.4327. PMID 8626781.
- Müller-Hartmann H, Deissler H, Naumann F, et al. (2000). "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. doi:10.1074/jbc.275.9.6447. PMID 10692448.
- Hartley JL, Temple GF, Brasch MA (2001). "DNA cloning using in vitro site-specific recombination". Genome Res. 10 (11): 1788–95. doi:10.1101/gr.143000. PMC 310948. PMID 11076863.
- Wiemann S, Weil B, Wellenreuther R, et al. (2001). "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. doi:10.1101/gr.GR1547R. PMC 311072. PMID 11230166.
- Simpson JC, Wellenreuther R, Poustka A, et al. (2001). "Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing". EMBO Rep. 1 (3): 287–92. doi:10.1093/embo-reports/kvd058. PMC 1083732. PMID 11256614.
- 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.
- Chen LS, Tassone F, Sahota P, Hagerman PJ (2004). "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. doi:10.1093/hmg/ddg331. PMID 14519687.
- Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
- Wiemann S, Arlt D, Huber W, et al. (2004). "From ORFeome to biology: a functional genomics pipeline". Genome Res. 14 (10B): 2136–44. doi:10.1101/gr.2576704. PMC 528930. PMID 15489336.
- Mehrle A, Rosenfelder H, Schupp I, et al. (2006). "The LIFEdb database in 2006". Nucleic Acids Res. 34 (Database issue): D415–8. doi:10.1093/nar/gkj139. PMC 1347501. PMID 16381901.
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