Human Gene RANBP2 (uc002tem.4) Description and Page Index
Description: Homo sapiens RAN binding protein 2 (RANBP2), mRNA. RefSeq Summary (NM_006267): 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]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data because no single transcript was available for the full length of the gene. The extent of this transcript is supported by transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: D42063.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000283195.11/ ENSP00000283195.6 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## Transcript (Including UTRs) Position: hg19 chr2:109,335,937-109,402,267 Size: 66,331 Total Exon Count: 29 Strand: + Coding Region Position: hg19 chr2:109,336,063-109,400,357 Size: 64,295 Coding Exon Count: 29
ID:RBP2_HUMAN DESCRIPTION: RecName: Full=E3 SUMO-protein ligase RanBP2; EC=6.3.2.-; AltName: Full=358 kDa nucleoporin; AltName: Full=Nuclear pore complex protein Nup358; AltName: Full=Nucleoporin Nup358; AltName: Full=Ran-binding protein 2; Short=RanBP2; AltName: Full=p270; Includes: RecName: Full=Putative peptidyl-prolyl cis-trans isomerase; Short=PPIase; EC=22.214.171.124; AltName: Full=Rotamase; 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. CATALYTIC ACTIVITY: Peptidylproline (omega=180) = peptidylproline (omega=0). PATHWAY: Protein modification; protein sumoylation. SUBUNIT: Forms a tight complex with RANBP1 and UBE2I. Interacts with SUMO1 but not SUMO2. Interacts with PARK2. Interacts with sumoylated RANGAP1. Interacts with CDCA8. INTERACTION: P04626:ERBB2; NbExp=3; IntAct=EBI-973138, EBI-641062; O60260:PARK2; NbExp=11; IntAct=EBI-973138, EBI-716346; Q53GG5:PDLIM3; NbExp=3; IntAct=EBI-973138, EBI-5658852; SUBCELLULAR LOCATION: Nucleus, nuclear pore complex. Note=Cytoplasmic filaments. DOMAIN: Contains F-X-F-G repeats. PTM: Polyubiquitinated by PARK2, which leads to proteasomal degradation. DISEASE: Defects in RANBP2 are the cause of encephalopathy acute infection-induced type 3 (IIAE3) [MIM:608033]. A rapidly progressive encephalopathy manifesting in susceptibile individuals with seizures and coma. It 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 characteristic symmetric lesions present in the thalami, pons and brainstem. Note=Mutations in the RANBP2 gene predispose to IIAE3, but by themselves are insufficient to make the phenotype fully penetrant; additional genetic and environmental factors are required (PubMed:19118815). SIMILARITY: Contains 1 PPIase cyclophilin-type domain. SIMILARITY: Contains 4 RanBD1 domains. SIMILARITY: Contains 8 RanBP2-type zinc fingers. SIMILARITY: Contains 1 TPR repeat. WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/RANBP2ID483.html";
Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): RANBP2 CDC HuGE Published Literature: RANBP2
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P49792
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
D42063 - Homo sapiens mRNA for RanBP2 (Ran-binding protein 2), complete cds. LP895392 - Sequence 256 from Patent EP3253886. JD247658 - Sequence 228682 from Patent EP1572962. JD490303 - Sequence 471327 from Patent EP1572962. AB209483 - Homo sapiens mRNA for RAN binding protein 2 variant protein. DQ578622 - Homo sapiens piRNA piR-46734, complete sequence. JD168593 - Sequence 149617 from Patent EP1572962. AK026993 - Homo sapiens cDNA: FLJ23340 fis, clone HEP13465, highly similar to HUMRANBP2 Human mRNA for RanBP2. U19240 - Human Ran binding protein mRNA, partial cds. AK025711 - Homo sapiens cDNA: FLJ22058 fis, clone HEP10089, highly similar to HUMRANBP2 Human mRNA for RanBP2 (Ran-binding protein 2). U19248 - Human Ran binding protein mRNA, partial cds. AY170822 - Homo sapiens transformation-related protein 1 mRNA, complete cds. JD023731 - Sequence 4755 from Patent EP1572962. AY170823 - Homo sapiens transformation-related protein 2 mRNA, complete cds. AK025462 - Homo sapiens cDNA: FLJ21809 fis, clone HEP00942, highly similar to HUMRANBP2 Human mRNA for RanBP2 (Ran-binding protein 2). JD555229 - Sequence 536253 from Patent EP1572962. JD284030 - Sequence 265054 from Patent EP1572962. JD509460 - Sequence 490484 from Patent EP1572962. JD285158 - Sequence 266182 from Patent EP1572962. JD548185 - Sequence 529209 from Patent EP1572962. JD411633 - Sequence 392657 from Patent EP1572962. JD299460 - Sequence 280484 from Patent EP1572962.
Biochemical and Signaling Pathways
BioCarta from NCI Cancer Genome Anatomy Project h_npcPathway - Mechanism of Protein Import into the Nucleus h_ranbp2Pathway - Sumoylation by RanBP2 Regulates Transcriptional Repression h_ranPathway - Cycling of Ran in nucleocytoplasmic transport