功能： disease:Defects in RANBP2 are the cause of susceptibility to acute necrotizing encephalopathy type 1 (ANE1) [MIM:608033]. Acute necrotizing encephalopathy (ANE) is a rapidly progressive encephalopathy, seizures, and coma that can occur within days in otherwise healthy children after common viral infections such as influenza and parainfluenza, without evidence of viral infection of the brain or inflammatory cell infiltration. Brain T2-weighted magnetic resonance imaging reveals characteritic symmetric lesions present in the thalami, pons, and brainstem.,domain:Contains F-X-F-G repeats.,function: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. Could also have isomerase or chaperone activity and may bind RNA or DNA. Component of the nuclear export pathway. Specific docking site for the nuclear export factor exportin-1.,pathway:Protein modification; protein sumoylation.,PTM:Polyubiquitinated by PARK2, which leads to proteasomal degradation.,similarity:Contains 1 PPIase cyclophilin-type domain.,similarity:Contains 1 TPR repeat.,similarity:Contains 4 RanBD1 domains.,similarity:Contains 8 RanBP2-type zinc fingers.,subcellular location:Cytoplasmic filaments.,subunit:Forms a tight complex with RANBP1 and UBE2I. Interacts with SUMO1 but not SUMO2. Interacts with PARK2. Interacts with sumoylated RANGAP1.,
功能： disease:Defects in RANBP2 are the cause of susceptibility to acute necrotizing encephalopathy type 1 (ANE1) [MIM:608033]. Acute necrotizing encephalopathy (ANE) is a rapidly progressive encephalopathy, seizures, and coma that can occur within days in otherwise healthy children after common viral infections such as influenza and parainfluenza, without evidence of viral infection of the brain or inflammatory cell infiltration. Brain T2-weighted magnetic resonance imaging reveals characteritic symmetric lesions present in the thalami, pons, and brainstem.,domain:Contains F-X-F-G repeats.,function: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. Could also have isomerase or chaperone activity and may bind RNA or DNA. Component of the nuclear export pathway. Specific docking site for the nuclear export factor exportin-1.,pathway:Protein modification; protein sumoylation.,PTM:Polyubiquitinated by PARK2, which leads to proteasomal degradation.,similarity:Contains 1 PPIase cyclophilin-type domain.,similarity:Contains 1 TPR repeat.,similarity:Contains 4 RanBD1 domains.,similarity:Contains 8 RanBP2-type zinc fingers.,subcellular location:Cytoplasmic filaments.,subunit:Forms a tight complex with RANBP1 and UBE2I. Interacts with SUMO1 but not SUMO2. Interacts with PARK2. Interacts with sumoylated RANGAP1.,
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