Aliases for RANBP2 Gene
External Ids for RANBP2 Gene
Previous HGNC Symbols for RANBP2 Gene
Previous GeneCards Identifiers for RANBP2 Gene
RAN is a small GTP-binding protein of the RAS superfamily that is associated with the nuclear membrane and is thought to control a variety of cellular functions through its interactions with other proteins. This gene encodes a very large RAN-binding protein that immunolocalizes to the nuclear pore complex. The protein is a giant scaffold and mosaic cyclophilin-related nucleoporin implicated in the Ran-GTPase cycle. The encoded protein directly interacts with the E2 enzyme UBC9 and strongly enhances SUMO1 transfer from UBC9 to the SUMO1 target SP100. These findings place sumoylation at the cytoplasmic filaments of the nuclear pore complex and suggest that, for some substrates, modification and nuclear import are linked events. This gene is partially duplicated in a gene cluster that lies in a hot spot for recombination on chromosome 2q. [provided by RefSeq, Jul 2008]
GeneCards Summary for RANBP2 Gene
RANBP2 (RAN Binding Protein 2) is a Protein Coding gene. Diseases associated with RANBP2 include acute necrotizing encephalopathy of childhood and familial acute necrotizing encephalopathy. Among its related pathways are Immune System and Signaling by GPCR. GO annotations related to this gene include RNA binding and peptidyl-prolyl cis-trans isomerase activity. An important paralog of this gene is PPIE.
UniProtKB/Swiss-Prot for RANBP2 Gene
E3 SUMO-protein ligase which facilitates SUMO1 and SUMO2 conjugation by UBE2I. Involved in transport factor (Ran-GTP, karyopherin)-mediated protein import via the F-G repeat-containing domain which acts as a docking site for substrates. Binds single-stranded RNA (in vitro). May bind DNA. Component of the nuclear export pathway. Specific docking site for the nuclear export factor exportin-1. Sumoylates PML at Lys-490 which is essential for the proper assembly of PML-NB.