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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]
[中文简述(自动翻译):] 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]
RANBP2基因(以及对应的蛋白质)的细胞分布位置:
RANBP2基因的本体(GO)信息:
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 |
Granuloma, Plasma Cell | 0.12 | 1 | 0 | CTD_human |
ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 4 | 0.12 | 0 | 0 | ORPHANET |
melanoma | 0.006514605 | 24 | 0 | BeFree |
Acute necrotizing encephalopathy | 0.001900093 | 7 | 1 | BeFree |
Hypopigmentation disorder | 0.001085767 | 4 | 0 | BeFree |
Melanoma, B16 | 0.000814326 | 3 | 0 | BeFree |
Sciatica | 0.000814326 | 3 | 0 | BeFree |
Intervertebral Disc Degeneration | 0.000814326 | 3 | 0 | BeFree |
Lumbar disc disease | 0.000814326 | 3 | 0 | BeFree |
Glioma | 0.000542884 | 2 | 0 | BeFree |
Hernia | 0.000542884 | 2 | 0 | BeFree |
Encephalopathies | 0.000542884 | 2 | 0 | BeFree |
Malignant Glioma | 0.000542884 | 2 | 0 | BeFree |
Malignant tumor of colon | 0.000271442 | 1 | 0 | BeFree |
Glioblastoma | 0.000271442 | 1 | 0 | BeFree |
HIV Infections | 0.000271442 | 1 | 0 | BeFree |
Langer-Giedion Syndrome | 0.000271442 | 1 | 0 | BeFree |
Leigh Disease | 0.000271442 | 1 | 0 | BeFree |
Multiple Myeloma | 0.000271442 | 1 | 0 | BeFree |
Multiple Sclerosis | 0.000271442 | 1 | 0 | BeFree |
Polyneuritis | 0.000271442 | 1 | 0 | BeFree |
Quadriplegia | 0.000271442 | 1 | 0 | BeFree |
Senile lentigo | 0.000271442 | 1 | 0 | BeFree |
Vitiligo | 0.000271442 | 1 | 0 | BeFree |
Malignant tumor of eye | 0.000271442 | 1 | 0 | BeFree |
Carcinogenesis | 0.000271442 | 1 | 0 | BeFree |
Colon Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Acute encephalopathy | 0.000271442 | 1 | 0 | BeFree |
Liver Inflammatory Myofibroblastic Tumor | 0.000271442 | 1 | 0 | BeFree |
Tumor Immunity | 0.000271442 | 1 | 0 | BeFree |
Glioblastoma Multiforme | 0.000271442 | 1 | 0 | BeFree |
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding) | 0.000271442 | 1 | 0 | BeFree |
ALBINOIDISM, OCULOCUTANEOUS, AUTOSOMAL DOMINANT | 0.000271442 | 1 | 0 | BeFree |
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