CGGBP1

CGG triplet repeat-binding protein 1 is a protein that in humans is encoded by the CGGBP1 gene.[5][6][7]

CGGBP1
Identifiers
Aliases	CGGBP1, CGGBP, p20-CGGBP, CGG triplet repeat binding protein 1
External IDs	OMIM: 603363 MGI: 2146370 HomoloGene: 2718 GeneCards: CGGBP1
Gene location (Human) Chr. Chromosome 3 (human)[1] Band 3p11.1 Start 88,051,944 bp[1] End 88,149,885 bp[1]
Gene location (Mouse) Chr. Chromosome 16 (mouse)[2] Band 16|16 C1.3 Start 64,851,996 bp[2] End 64,859,507 bp[2]
Gene ontology Molecular function • DNA binding • RNA polymerase II regulatory region sequence-specific DNA binding • GO:0001948 protein binding • GO:0001078, GO:0001214, GO:0001206 DNA-binding transcription repressor activity, RNA polymerase II-specific • double-stranded DNA binding • identical protein binding Cellular component • cell nucleus • nucleoplasm Biological process • regulation of transcription, DNA-templated • negative regulation of transcription from RNA polymerase II promoter • transcription, DNA-templated • regulation of transcription from RNA polymerase II promoter Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	8545	106143
Ensembl	ENSG00000163320	ENSMUSG00000054604
UniProt	Q9UFW8	Q8BHG9
RefSeq (mRNA)	NM_001008390 NM_001195308 NM_003663	NM_178647 NM_001357416
RefSeq (protein)	NP_001008391 NP_001182237 NP_003654	NP_848762 NP_001344345
Location (UCSC)	Chr 3: 88.05 – 88.15 Mb	Chr 16: 64.85 – 64.86 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

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][7]

References

1. GRCh38: Ensembl release 89: ENSG00000163320 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000054604 - 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. 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.
6. 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.
7. "Entrez Gene: CGGBP1 CGG triplet repeat binding protein 1".

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.

External links

• Human CGGBP1 genome location and CGGBP1 gene details page in the UCSC Genome Browser.