CGGBP1

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 64,672,359 bp [2] End 64,679,870 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in germinal epithelium visceral pleura parietal pleura ganglionic eminence pancreatic ductal cell superficial temporal artery tibia lymph node caput epididymis endometrium Top expressed in medial ganglionic eminence Paneth cell ciliary body vas deferens cumulus cell renal corpuscle seminal vesicula left lung lobe conjunctival fornix atrioventricular valve 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 [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

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

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. ^[8]

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. ^[8]

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. ^[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".
8. 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 . PMC   4816882 . PMID   26482656.

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 .