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

Quick Facts Identifiers, Aliases ...

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

Close

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]