RBBP4: RB Binding Protein 4, Chromatin Remodeling Factor
A core component of chromatin remodeling complexes, involved in transcriptional regulation and cell cycle control.
Gene Information Card
| Symbol | RBBP4 |
|---|---|
| Full Name | RB Binding Protein 4, Chromatin Remodeling Factor |
| Gene Type | Protein coding |
| Chromosomal Location | 1p35.1 |
| NCBI Gene ID | 5928 ncbi.nlm.nih.gov/gene/5928 |
| Ensembl ID | ENSG00000162594 |
| UniProt ID | Q09028 |
| OMIM ID | 180330 |
| HGNC ID | 9887 |
| Aliases | NURF55, RbAp48, CAF1C, HAT2, NURF55, RBAP48 |
Description
RBBP4 encodes a member of the WD40 repeat-containing protein family. It is a core component of multiple chromatin remodeling complexes, including the NuRD (nucleosome remodeling and deacetylase) complex, the NURF (nucleosome remodeling factor) complex, and the CAF-1 (chromatin assembly factor 1) complex. RBBP4 binds directly to the retinoblastoma protein (RB) and to histone H4, playing a key role in transcriptional repression, cell cycle regulation, and chromatin assembly.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (multiple types) | Altered expression of RBBP4 affects chromatin remodeling and cell cycle control, contributing to tumorigenesis. | COSMIC, PubMed |
| Intellectual disability | RBBP4 mutations have been associated with neurodevelopmental disorders, likely due to disrupted chromatin regulation. | ClinVar, PubMed |
| Breast cancer | Overexpression of RBBP4 correlates with poor prognosis and may promote proliferation via RB pathway dysregulation. | COSMIC, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Lung | 10.2 | Medium |
| Liver | 8.9 | Low |
| Kidney | 11.3 | Medium |
| Testis | 15.1 | High |
| Bone marrow | 7.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 14.2 | High expression |
| HeLa | 12.8 | High expression |
| K562 | 9.5 | Medium expression |
| MCF7 | 11.0 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101G>A (p.Arg34Gln) | Missense | <0.1% | Unknown functional impact; reported in ClinVar |
| c.502C>T (p.Arg168Trp) | Missense | <0.1% | Likely benign; no disease association confirmed |
| c.1240G>A (p.Glu414Lys) | Missense | <0.1% | Uncertain significance; reported in neurodevelopmental cases |
Mutation functional classification
Loss of Function (LOF)
No well-characterized loss-of-function mutations reported in RBBP4. Knockdown studies show reduced cell proliferation.
Gain of Function (GOF)
Overexpression in certain cancers suggests potential gain-of-function role, but no activating mutations identified.
Dominant Negative (DN)
No dominant-negative mutations described for RBBP4.
View complete mutation data：
Gene Ontology (GO)
Pathways
• NuRD complex (REACT_19383)
• Chromatin assembly (REACT_19384)
• Cell cycle - G1/S transition (REACT_1538)
• p53 pathway (REACT_1540)
Protein Summary
RBBP4 (RbAp48) is a 425-amino acid protein containing five WD40 repeats that form a beta-propeller structure. It functions as a histone chaperone, specifically binding histone H4, and is a core subunit of several chromatin-modifying complexes. Through its interaction with RB, it links chromatin regulation to cell cycle control. The protein is ubiquitously expressed with highest levels in testis and brain.
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