RANBP9
Description
The RANBP9 (RAN binding protein 9) is a protein-coding gene located on chromosome 6.
Ran-binding protein 9 is a protein that in humans is encoded by the RANBP9 gene. This gene encodes a protein that binds RAN, a small GTP binding protein belonging to the RAS superfamily that is essential for the translocation of RNA and proteins through the nuclear pore complex. The protein encoded by this gene has also been shown to interact with several other proteins, including met proto-oncogene, homeodomain interacting protein kinase 2, androgen receptor, and cyclin-dependent kinase 11.
Ran-binding protein 9 (RANBP9) acts as a scaffolding and adapter protein, potentially coupling membrane receptors to intracellular signaling pathways. It plays a role in cell spreading and actin cytoskeleton rearrangement. RANBP9 is a core component of the CTLH E3 ubiquitin-protein ligase complex, mediating ubiquitination and proteasomal degradation of the transcription factor HBP1. It is involved in signaling of integrins, including ITGB2/LFA-1. RANBP9 enhances HGF-MET signaling by recruiting Sos and activating the Ras pathway. It also enhances dihydrotestosterone-induced transactivation of the androgen receptor (AR) and dexamethasone-induced transactivation of NR3C1, but does not affect estrogen-induced transactivation. RANBP9 stabilizes TP73 isoform Alpha, possibly by inhibiting its ubiquitination, leading to increased proapoptotic activity. RANBP9 inhibits the kinase activity of DYRK1A and DYRK1B and also inhibits FMR1 binding to RNA.
RANBP9 is also known as BPM-L, BPM90, RANBPM, RanBP7.
Associated Diseases
- endometrial cancer
- partial chromosome Y deletion
- male infertility with teratozoospermia due to single gene mutation
- isochromosomy Yp
- spermatogenic failure 25
- spermatogenic failures 50
- ring chromosome Y
- isochromosomy Yq
- congenital bilateral absence of vas deferens
- spermatogenic failure 63
- spermatogenic failure, X-linked, 2
- Kallmann syndrome
- spermatogenic failure 65
- spermatogenic failure 48
