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CGG triplet repeat binding protein 1
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| Identifiers | ||
| Symbol(s) | CGGBP1; CGGBP; p20-CGGBP | |
| External IDs | OMIM: 603363 MGI: 2146370 HomoloGene: 2718 | |
| Orthologs | ||
| Human | Mouse | |
| Entrez | 8545 | 106143 |
| Ensembl | n/a | ENSMUSG00000054604 |
| Uniprot | n/a | Q8BHG9 |
| Refseq | NM_001008390 (mRNA) NP_001008391 (protein) |
NM_178647 (mRNA) NP_848762 (protein) |
| Location | n/a | Chr 16: 64.79 - 64.8 Mb |
| Pubmed search | [1] | [2] |
CGG triplet repeat binding protein 1, also known as CGGBP1, is a human gene. The Human Genome Organisation (HUGO is an organization involved in the Human Genome Project, a project about mapping the human genome The Mouse Genome Informatics (MGI website is run by The Jackson Laboratory. HomoloGene, a tool of the National Center for Biotechnology Information (NCBI is a system for automated detection of homologs (similarity attributable to descent The Entrez Global Query Cross-Database Search System is a powerful Federated search engine or Web portal that allows users to search many discrete Health sciences Ensembl is a joint scientific project between the European Bioinformatics Institute and the Wellcome Trust Sanger Institute, which was launched in 1999 in response to the imminent UniProt is the uni versal prot ein resource a central repository of Protein data created by combining Swiss-Prot, TrEMBL PubMed is a free search engine for accessing the MEDLINE database of citations and abstracts of biomedical research articles History See also History of genetics The existence of genes was first suggested by Gregor Mendel (1822-1884 who in the 1860s studied inheritance [1]
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][1]
References
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. 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. 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. PMID 8626781.
- Deissler H, Wilm M, Genç B, et al. (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. PMID 9201980.
- 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. PMID 10692448.
- Hartley JL, Temple GF, Brasch MA (2001). "DNA cloning using in vitro site-specific recombination. ". Genome Res. 10 (11): 1788-95. 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:. A digital object identifier ( DOI) is a permanent identifier given to an Electronic document. 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:. A digital object identifier ( DOI) is a permanent identifier given to an Electronic document. 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:. A digital object identifier ( DOI) is a permanent identifier given to an Electronic document. 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:. A digital object identifier ( DOI) is a permanent identifier given to an Electronic document. PMID 14519687.
- Naumann F, Remus R, Schmitz B, Doerfler W (2004). "Gene structure and expression of the 5'-(CGG)(n)-3'-binding protein (CGGBP1). ". Genomics 83 (1): 106-18. PMID 14667814.
- 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:. A digital object identifier ( DOI) is a permanent identifier given to an Electronic document. 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:. A digital object identifier ( DOI) is a permanent identifier given to an Electronic document. 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:. A digital object identifier ( DOI) is a permanent identifier given to an Electronic document. PMID 16381901.