RBBP9: Retinoblastoma Binding Protein 9
A serine hydrolase involved in cell cycle regulation and tumor suppression
Gene Information Card
| Symbol | RBBP9 |
|---|---|
| Full Name | Retinoblastoma Binding Protein 9 |
| Gene Type | Protein coding |
| Chromosomal Location | 20p11.23 |
| NCBI Gene ID | 10741 ncbi.nlm.nih.gov/gene/10741 |
| Ensembl ID | ENSG00000101204 |
| UniProt ID | O75884 |
| OMIM ID | 605676 |
| HGNC ID | 9892 |
| Aliases | BOG, RBBP10 |
Description
RBBP9 (retinoblastoma binding protein 9) encodes a serine hydrolase that interacts with the retinoblastoma (RB) protein. It is involved in cell cycle regulation, particularly G1/S transition, and has been implicated in tumor suppression. The protein exhibits serine hydrolase activity and may modulate TGF-beta signaling. RBBP9 is overexpressed in pancreatic cancer and other malignancies, suggesting a role in oncogenesis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Pancreatic cancer | Overexpression of RBBP9 promotes tumor growth via serine hydrolase activity and TGF-beta pathway modulation | COSMIC, PMID: 19029908 |
| Retinoblastoma | Interaction with RB protein suggests involvement in RB pathway dysregulation | OMIM: 605676 |
| Colorectal cancer | Altered expression observed in tumor tissues | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Pancreas | 12.5 | Medium |
| Liver | 8.3 | Low |
| Brain | 6.1 | Low |
| Heart | 4.7 | Low |
| Kidney | 9.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| PANC-1 (pancreatic cancer) | 15.8 | Overexpressed |
| HeLa (cervical cancer) | 10.2 | Moderate |
| HEK293 (embryonic kidney) | 7.5 | Low |
| MCF7 (breast cancer) | 11.3 | Moderate |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.287G>A (p.Arg96Gln) | Missense | 0.02% (gnomAD) | Unknown functional effect |
| c.421C>T (p.Arg141Trp) | Missense | 0.01% (gnomAD) | Unknown functional effect |
| c.1A>G (p.Met1Val) | Start loss | <0.01% | Likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Start loss mutations (e.g., p.Met1Val) are predicted to abolish protein expression.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • hydrolase activity (GO:0016787) |
| • cell cycle (GO:0007049) | • cell division (GO:0051301) |
| • transforming growth factor beta receptor signaling pathway (GO:0007179) |
Pathways
• TGF-beta signaling pathway (Reactome: R-HSA-170834)
• Cell cycle
• G1/S transition (Reactome: R-HSA-69278)
Protein Summary
RBBP9 is a 186-amino acid serine hydrolase (UniProt O75884) that localizes to the cytoplasm and nucleus. It binds the retinoblastoma protein (RB1) and may regulate RB-mediated cell cycle arrest. The protein has a conserved serine hydrolase catalytic triad (Ser-91, Asp-114, His-146). Overexpression in pancreatic cancer correlates with poor prognosis, and knockdown reduces tumor growth in xenograft models.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RBBP9 Knockout HEK293 Cell Line | EDJ-KQ7144 | Human | 10741 | Details Get a Quote |
| RBBP9 Knockout A-549 Cell Line | EDJ-KQ32037 | Human | 10741 | Details Get a Quote |
| RBBP9 Knockout HCT 116 Cell Line | EDJ-KQ32038 | Human | 10741 | Details Get a Quote |
| RBBP9 Knockout HeLa Cell Line | EDJ-KQ32039 | Human | 10741 | Details Get a Quote |
