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CGGBP1

From Wikipedia, the free encyclopedia
CGGBP1
Identifiers
AliasesCGGBP1, CGGBP, p20-CGGBP, CGG triplet repeat binding protein 1
External IDsOMIM: 603363; MGI: 2146370; HomoloGene: 2718; GeneCards: CGGBP1; OMA:CGGBP1 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
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 MbChr 16: 64.67 – 64.68 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000163320Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000054604Ensembl, 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. ^ a b "Entrez Gene: CGGBP1 CGG triplet repeat binding protein 1".
  8. ^ a b 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

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