Human Gene CGGBP1 (ENST00000309534.10) from GENCODE V44
Description: Homo sapiens CGG triplet repeat binding protein 1 (CGGBP1), transcript variant 2, mRNA. (from RefSeq NM_003663) RefSeq Summary (NM_001008390): This gene encodes a CGG repeat-binding protein that primarily localizes to the nucleus. CGG trinucleotide repeats are implicated in many disorders as they often act as transcription- and translation-regulatory elements, can produce hairpin structures which cause DNA replication errors, and form regions prone to chromosomal breakage. CGG repeats are also targets for CpG methylation. In addition to its ability to bind CGG repeats and regulate transcription, this gene is believed to play a role in DNA damage repair and telomere protection. In vitro studies indicate this protein does not bind to methylated CpG sequences. [provided by RefSeq, Jul 2017]. Gencode Transcript: ENST00000309534.10 Gencode Gene: ENSG00000163320.12 Transcript (Including UTRs) Position: hg38 chr3:88,051,944-88,059,048 Size: 7,105 Total Exon Count: 3 Strand: - Coding Region Position: hg38 chr3:88,055,473-88,055,976 Size: 504 Coding Exon Count: 1
ID:CGBP1_HUMAN DESCRIPTION: RecName: Full=CGG triplet repeat-binding protein 1; Short=CGG-binding protein 1; AltName: Full=20 kDa CGG-binding protein; AltName: Full=p20-CGGBP DNA-binding protein; FUNCTION: Binds to nonmethylated 5'-d(CGG)(n)-3' trinucleotide repeats in the FMR1 promoter. May play a role in regulating FMR1 promoter. SUBCELLULAR LOCATION: Nucleus. TISSUE SPECIFICITY: Ubiquitous. Highly expressed in placenta, thymus, lymph nodes, cerebellum and cerebral cortex. Low expression in other regions of the brain. DEVELOPMENTAL STAGE: Expressed in fetal brain and kidney. Lower expression in fetal liver and lung. PTM: Phosphorylated upon DNA damage, probably by ATM or ATR. MISCELLANEOUS: Binding is severely inhibited by complete or partial cytosine-specific DNA methylation of the binding motif. SEQUENCE CAUTION: Sequence=CAB55894.1; Type=Frameshift; Positions=149;
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Protein Domain and Structure Information
ModBase Predicted Comparative 3D Structure on Q9UFW8
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Gene Ontology (GO) Annotations with Structured Vocabulary
Molecular Function: GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding GO:0001227 transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding GO:0003677 DNA binding GO:0003690 double-stranded DNA binding GO:0005515 protein binding GO:0042802 identical protein binding
Biological Process: GO:0000122 negative regulation of transcription from RNA polymerase II promoter GO:0006351 transcription, DNA-templated GO:0006355 regulation of transcription, DNA-templated GO:0006357 regulation of transcription from RNA polymerase II promoter
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