RANBP1
Description
The RANBP1 (RAN binding protein 1) is a protein-coding gene located on chromosome 22.
Ran-specific binding protein 1 is an enzyme that in humans is encoded by the RANBP1 gene. Ran/TC4-binding protein, RanBP1, interacts specifically with GTP-charged RAN. RANBP1 encodes a 23-kD protein that binds to RAN complexed with GTP but not GDP. RANBP1 does not activate GTPase activity of RAN but does markedly increase GTP hydrolysis by the RanGTPase-activating protein (RANGAP1). The RANBP1 cDNA encodes a 201-amino acid protein that is 92% similar to its mouse homolog. In both mammalian cells and in yeast, RANBP1 acts as a negative regulator of RCC1 by inhibiting RCC1-stimulated guanine nucleotide release from RAN.
== Interactions == RANBP1 has been shown to interact with XPO1, KPNB1 and Ran.
RANBP1 plays a crucial role in RAN-dependent nucleocytoplasmic transport. It alleviates the inhibition of RAN GTPase activity caused by TNPO1 and promotes the dissociation of RAN from proteins involved in nuclear import. RANBP1 also induces a conformational change in the XPO1-RAN complex, leading to the release of nuclear export signals from cargo proteins. Additionally, it promotes the disassembly of RAN-importin beta complexes and the dissociation of RAN from KPNA2 and CSE1L. RANBP1 is essential for normal mitotic spindle assembly and progression through mitosis, directly impacting RAN function. While RANBP1 does not independently enhance RAN GTPase activity, it increases GTP hydrolysis mediated by RANGAP1. Furthermore, it inhibits the RCC1-dependent exchange of GDP for GTP on RAN.
RANBP1 is also known as HTF9A.
Associated Diseases
- male infertility with teratozoospermia due to single gene mutation
- partial chromosome Y deletion
- spermatogenic failure 48
- spermatogenic failure 61
- spermatogenic failure 74
- spermatogenic failure 73
- congenital bilateral absence of vas deferens
- spermatogenic failure 25
- spermatogenic failures 50
- spermatogenic failure 65
- spermatogenic failure, X-linked, 3
- spermatogenic failure 70
- spermatogenic failure 40
- spermatogenic failure 39
- spermatogenic failure 22
- spermatogenic failure 72
- spermatogenic failure 47