CGGBP1

CGG triplet repeat-binding protein 1 is a protein that in humans is encoded by the CGGBP1 gene.

CGGBP1
Identifiers
Aliases	CGGBP1, CGGBP, p20-CGGBP, CGG triplet repeat binding protein 1
External IDs	OMIM: 603363; MGI: 2146370; HomoloGene: 2718; GeneCards: CGGBP1; OMA:CGGBP1 - orthologs
Gene location (Human) Chr. Chromosome 3 (human) Band 3p11.1 Start 88,051,944 bp End 88,149,885 bp
Gene location (Mouse) Chr. Chromosome 16 (mouse) Band 16|16 C1.3 Start 64,672,359 bp End 64,679,870 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in germinal epithelium visceral pleura epithelium of nasopharynx ventricular zone parietal pleura ganglionic eminence pancreatic ductal cell superficial temporal artery tibia lymph node Top expressed in medial ganglionic eminence Paneth cell vestibular membrane of cochlear duct ciliary body vas deferens cumulus cell renal corpuscle seminal vesicula left lung lobe atrioventricular junction More reference expression data BioGPS n/a
Gene ontology Molecular function DNA binding RNA polymerase II transcription regulatory region sequence-specific DNA binding protein binding DNA-binding transcription repressor activity, RNA polymerase II-specific double-stranded DNA binding identical protein binding Cellular component nucleus nucleoplasm Biological process regulation of transcription, DNA-templated negative regulation of transcription by RNA polymerase II transcription, DNA-templated regulation of transcription by RNA polymerase II 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: 64.67 – 64.68 Mb PubMed search
Wikidata
View/Edit Human View/Edit Mouse

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.

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.

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.

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. Bibcode:2002PNAS...9916899M. 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.