RBBP7: RB Binding Protein 7, Chromatin Remodeling Factor
A core component of histone deacetylase and chromatin remodeling complexes, implicated in cancer and developmental disorders.
Gene Information Card
| Symbol | RBBP7 |
|---|---|
| Full Name | RB Binding Protein 7, Chromatin Remodeling Factor |
| Gene Type | Protein coding |
| Chromosomal Location | Xp22.2 |
| NCBI Gene ID | 5931 ncbi.nlm.nih.gov/gene/5931 |
| Ensembl ID | ENSG00000102054 |
| UniProt ID | Q16576 |
| OMIM ID | 300825 |
| HGNC ID | 9890 |
| Aliases | RbAp46, NURF55, CAF-1 p55, HDAC subunit p46 |
Description
RBBP7 encodes a ubiquitously expressed nuclear protein that is a core component of several chromatin remodeling complexes, including the NuRD (nucleosome remodeling and deacetylase) complex, the Sin3a complex, and the CAF-1 (chromatin assembly factor 1) complex. It functions as a histone chaperone, facilitating histone H4 binding and deacetylation, and plays critical roles in transcriptional regulation, cell cycle control, and DNA repair. RBBP7 interacts directly with the retinoblastoma protein (RB1) and is involved in RB-mediated growth suppression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | RBBP7 overexpression or altered complex assembly may disrupt chromatin regulation, promoting proliferation. | ClinVar, COSMIC |
| Colorectal cancer | Somatic mutations and copy number alterations in RBBP7 are reported, potentially affecting NuRD complex function. | COSMIC, NCBI |
| Intellectual disability, X-linked | Missense variants in RBBP7 have been associated with neurodevelopmental phenotypes. | OMIM, ClinVar |
| Endometrial cancer | Recurrent mutations in RBBP7 have been identified in endometrial tumors. | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 22.5 | High |
| Lymph node | 18.3 | High |
| Bone marrow | 16.7 | High |
| Brain | 12.1 | Medium |
| Liver | 10.5 | Medium |
| Heart | 8.9 | Medium |
| Lung | 7.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 20.1 | High expression |
| HeLa | 18.5 | High expression |
| MCF7 | 15.3 | Medium expression |
| HepG2 | 12.8 | Medium expression |
| K562 | 10.4 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.104C>T (p.Pro35Leu) | Missense | <0.1% | Reported in X-linked intellectual disability; may impair histone binding. |
| c.497G>A (p.Arg166Gln) | Missense | <0.1% | Found in endometrial cancer; potential loss of function. |
| c.742_743insA (p.Thr248Asnfs*5) | Frameshift | <0.1% | Predicted to cause loss of function via nonsense-mediated decay. |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations that truncate the protein or lead to mRNA decay are classified as loss-of-function.
Gain of Function (GOF)
No well-characterized gain-of-function mutations have been reported for RBBP7.
Dominant Negative (DN)
Missense mutations in the histone-binding domain may act in a dominant-negative manner by disrupting complex assembly.
View complete mutation data：
Gene Ontology (GO)
| • histone binding | • chromatin binding |
| • protein deacetylase activity | • nucleosome assembly |
| • negative regulation of transcription by RNA polymerase II | • cell cycle |
Pathways
• Chromatin modifying enzymes (NuRD complex)
• HDACs deacetylate histones
• Cell Cycle
• Mitotic
• DNA methylation
Protein Summary
RBBP7 is a 46 kDa WD40-repeat protein that serves as a histone chaperone and scaffold within multiple chromatin-modifying complexes. It specifically recognizes histone H4 and facilitates its presentation to histone deacetylases. Through its interaction with RB1, RBBP7 links chromatin regulation to cell cycle control. The protein is highly conserved and expressed in most tissues, with elevated levels in testis and lymphoid organs.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RBBP7 Knockout HEK293 Cell Line | EDJ-KQ5636 | Human | 5931 | Details Get a Quote |
| RBBP7 Knockout A-549 Cell Line | EDJ-KQ28963 | Human | 5931 | Details Get a Quote |
| RBBP7 Knockout HeLa Cell Line | EDJ-KQ28965 | Human | 5931 | Details Get a Quote |
| RBBP7 Knockout HCT 116 Cell Line | EDJ-KQ27702 | Human | 5931 | Details Get a Quote |
