CGGBP1: CGG Triplet Repeat Binding Protein 1
A multifunctional protein involved in telomere maintenance, DNA damage response, and transcriptional regulation.
Gene Information Card
| Symbol | CGGBP1 |
|---|---|
| Full Name | CGG Triplet Repeat Binding Protein 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 3p11.1 |
| NCBI Gene ID | 85462 ncbi.nlm.nih.gov/gene/85462 |
| Ensembl ID | ENSG00000163320 |
| UniProt ID | Q9UFW8 |
| OMIM ID | 609384 |
| HGNC ID | 24287 |
| Aliases | CGGBP, p20-CGGBP, CGG-binding protein 1 |
Description
CGGBP1 encodes a protein that binds to CGG trinucleotide repeats and is involved in telomere maintenance, DNA damage response, and transcriptional regulation. It localizes to the nucleus and interacts with chromatin, influencing gene expression and genome stability.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Intellectual disability | CGGBP1 mutations may disrupt telomere maintenance and chromatin regulation, impairing neurodevelopment. | ClinVar |
| Microcephaly | Loss-of-function variants in CGGBP1 are associated with reduced brain size, possibly due to defective DNA repair. | ClinVar |
| Cancer (general) | CGGBP1 overexpression or mutation may contribute to genomic instability and tumorigenesis. | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.3 | Low |
| Lung | 6.1 | Low |
| Liver | 4.7 | Low |
| Heart | 3.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.2 | High expression |
| HeLa | 10.8 | Moderate expression |
| K562 | 8.5 | Low expression |
| HepG2 | 6.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Likely loss of function; associated with intellectual disability |
| c.286C>T (p.Arg96Trp) | Missense | <0.01% | May affect DNA binding; reported in ClinVar |
| c.424_425del (p.Gln142fs) | Frameshift | <0.01% | Loss of function; linked to microcephaly |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations that truncate the protein or disrupt its nuclear localization signal lead to loss of function.
Gain of Function (GOF)
No gain-of-function mutations have been reported for CGGBP1.
Dominant Negative (DN)
No dominant-negative mutations have been characterized for CGGBP1.
View complete mutation data：
Gene Ontology (GO)
| • DNA binding | • chromatin binding |
| • telomere maintenance | • DNA damage response |
| • regulation of transcription by RNA polymerase II | • nucleus |
| • cytoplasm |
Pathways
• Telomere maintenance
• DNA damage response
• Chromatin remodeling
Protein Summary
CGGBP1 is a 20 kDa nuclear protein that binds specifically to CGG trinucleotide repeats. It plays roles in telomere protection, DNA repair, and transcriptional regulation. The protein interacts with histones and chromatin modifiers, influencing gene expression and genome stability. Mutations in CGGBP1 are associated with neurodevelopmental disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CGGBP1 Knockout HEK293 Cell Line | EDJ-KQ6282 | Human | 8545 | Details Get a Quote |
| CGGBP1 Knockout A-549 Cell Line | EDJ-KQ30179 | Human | 8545 | Details Get a Quote |
| CGGBP1 Knockout HCT 116 Cell Line | EDJ-KQ30180 | Human | 8545 | Details Get a Quote |
| CGGBP1 Knockout HeLa Cell Line | EDJ-KQ30181 | Human | 8545 | Details Get a Quote |
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