RBBP9
Description
The RBBP9 (RB binding protein 9, serine hydrolase) is a protein-coding gene located on chromosome 20.
RBBP9 is an enzyme encoded by the RBBP9 gene in humans. It acts as a retinoblastoma binding protein and might regulate cell proliferation and differentiation. Two transcript variants with identical protein products have been reported, one being a candidate for nonsense-mediated decay. RBBP9 interacts with the Retinoblastoma protein.
RBBP9 is a serine hydrolase with unknown substrates. It may negatively regulate TGF-beta signaling by inhibiting SMAD2-SMAD3 phosphorylation. RBBP9 might contribute to cell transformation by conferring resistance to TGF-beta's growth-inhibitory effects. This resistance is achieved through interaction with RB1, leading to the displacement of E2F1.
RBBP9 is also known as BOG, RBBP10.
Associated Diseases
- cancer
- Fanconi anemia
- Friedreich ataxia
- liver and intrahepatic bile duct neoplasm
- idiopathic pulmonary arterial hypertension
