RANBP2 (RAN binding protein 2)
- symbol:
- RANBP2
- locus group:
- protein-coding gene
- location:
- 2q13
- gene_family:
- Zinc fingers, RAN binding-type|Tetratricopeptide repeat domain containing|Cyclophilin peptidylprolyl isomerases
- alias symbol:
- NUP358|ADANE
- alias name:
- nucleoporin 358
- entrez id:
- 5903
- ensembl gene id:
- ENSG00000153201
- ucsc gene id:
- uc002tem.4
- refseq accession:
- NM_006267
- hgnc_id:
- HGNC:9848
- approved reserved:
- 1996-11-14
RANBP2（也称为RAN结合蛋白2或NUP358）是一个重要的核孔复合体蛋白，属于核孔蛋白家族（Nucleoporin family）。它位于核孔复合体的胞质侧，是核孔复合体中最大的组成蛋白之一。RANBP2的主要功能是参与核质运输，通过与RAN GTP酶相互作用，调控蛋白质和RNA在细胞核与细胞质之间的选择性运输。此外，RANBP2还参与有丝分裂过程，帮助纺锤体的正确组装和染色体的分离。RANBP2含有多个功能域，包括SUMO E3连接酶活性，能够促进SUMO化修饰，影响蛋白质的稳定性和功能。RANBP2的突变与多种疾病相关，如急性坏死性脑病（ANE），某些突变会导致蛋白质功能异常，影响神经细胞的能量代谢和存活。RANBP2过表达可能与某些癌症的发生有关，因为它可能促进细胞增殖和存活；而降低表达则可能影响核质运输和有丝分裂，导致细胞周期紊乱或凋亡。RANBP2属于核孔蛋白家族，该家族的成员共同特点是参与核孔复合体的形成和功能，调控大分子的核质运输，并在细胞分裂、基因表达调控等过程中发挥重要作用。
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]
RAN是与核膜相关联，并且被认为是通过其与其它蛋白质的相互作用，以控制多种细胞功能的RAS超家族的小GTP结合蛋白。这个基因编码immunolocalizes核孔复合体非常大的RAN结合蛋白。该蛋白质是一个巨大的脚手架和镶嵌环素相关核孔蛋白在冉-GTP酶周期牵连。该编码的蛋白直接与E2酶的相互作用UBC9并强烈增强从UBC9 SUMO1转移到SUMO1目标SP100。这些发现放置SUMO化在核孔复合物的胞浆长丝和建议，对于某些底物，修改和核输入被链接事件。该基因在位于一个热点染色体第二季度重组的基因簇部分复制。 [由RefSeq的，2008年7月提供]
基因本体信息
RANBP2基因（以及对应的蛋白质）的细胞分布位置：
- 质膜
- 细胞质
- 细胞外
- 高尔基体
- 囊泡
- 细胞骨架
- 内质网
- 细胞核
- 内体
- 溶酶体
- 线粒体
RANBP2基因的本体（GO）信息：
| 名称 |
|---|
| 3013 RNA transport [PATH:hsa03013] |
| 名称 |
|---|
| Antiviral mechanism by IFN-stimulated genes |
| Cell Cycle |
| Cell Cycle, Mitotic |
| Cellular response to heat stress |
| Cellular responses to stress |
| Cytokine Signaling in Immune system |
| Disease |
| Export of Viral Ribonucleoproteins from Nucleus |
| Gene Expression |
| Glucose transport |
| Hexose transport |
| HIV Infection |
| HIV Life Cycle |
| Host Interactions of HIV factors |
| Immune System |
| Infectious disease |
| Influenza Infection |
| Influenza Life Cycle |
| Influenza Viral RNA Transcription and Replication |
| Interactions of Rev with host cellular proteins |
| Interactions of Vpr with host cellular proteins |
| Interferon Signaling |
| ISG15 antiviral mechanism |
| Late Phase of HIV Life Cycle |
| M Phase |
| Metabolism of carbohydrates |
| Metabolism of non-coding RNA |
| Metabolism of proteins |
| Mitotic Anaphase |
| Mitotic Metaphase and Anaphase |
| Mitotic Prometaphase |
| Mitotic Prophase |
| NEP/NS2 Interacts with the Cellular Export Machinery |
| Nuclear Envelope Breakdown |
| Nuclear import of Rev protein |
| Nuclear Pore Complex (NPC) Disassembly |
| Post-translational protein modification |
| Processing of Capped Intron-Containing Pre-mRNA |
| Regulation of Glucokinase by Glucokinase Regulatory Protein |
| Regulation of HSF1-mediated heat shock response |
| Regulatory RNA pathways |
| Resolution of Sister Chromatid Cohesion |
| Rev-mediated nuclear export of HIV RNA |
| RHO GTPase Effectors |
| RHO GTPases Activate Formins |
| Separation of Sister Chromatids |
| Signaling by Rho GTPases |
| SLC-mediated transmembrane transport |
| snRNP Assembly |
| SUMO E3 ligases SUMOylate target proteins |
| SUMOylation |
| SUMOylation of DNA damage response and repair proteins |
| Transcriptional regulation by small RNAs |
| Transmembrane transport of small molecules |
| Transport of Mature mRNA derived from an Intron-Containing Transcript |
| Transport of Mature mRNA Derived from an Intronless Transcript |
| Transport of Mature mRNAs Derived from Intronless Transcripts |
| Transport of Mature Transcript to Cytoplasm |
| Transport of Ribonucleoproteins into the Host Nucleus |
| Transport of the SLBP Dependant Mature mRNA |
| Transport of the SLBP independent Mature mRNA |
| Viral Messenger RNA Synthesis |
| Vpr-mediated nuclear import of PICs |
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 3 | 0.48 | 1 | 3 | CLINVAR_CTD_human_ORPHANET_UNIPROT |
| Inflammatory Myofibroblastic Tumor | 0.121628651 | 6 | 0 | BeFree_ORPHANET |
| ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 4 | 0.12 | 0 | 0 | ORPHANET |
| Granuloma, Plasma Cell | 0.12 | 1 | 0 | CTD_human |
| melanoma | 0.006514605 | 24 | 0 | BeFree |
| Acute necrotizing encephalopathy | 0.001900093 | 7 | 1 | BeFree |
| Hypopigmentation disorder | 0.001085767 | 4 | 0 | BeFree |
| Lumbar disc disease | 0.000814326 | 3 | 0 | BeFree |
| Melanoma, B16 | 0.000814326 | 3 | 0 | BeFree |
| Intervertebral Disc Degeneration | 0.000814326 | 3 | 0 | BeFree |
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