NUP98 (nucleoporin 98 and 96 precursor)
- symbol:
- NUP98
- locus group:
- protein-coding gene
- location:
- 11p15.4
- gene_family:
- alias symbol:
- NUP96|Nup98-Nup96|Nup98-96|NUP196
- alias name:
- Nuclear pore complex protein Nup98…
- entrez id:
- 4928
- ensembl gene id:
- ENSG00000110713
- ucsc gene id:
- uc001lyh.3
- refseq accession:
- NM_016320
- hgnc_id:
- HGNC:8068
- approved reserved:
- 1997-07-04
NUP98（核孔蛋白98）是一种重要的核孔复合体蛋白，属于核孔蛋白（NUP）基因家族。该家族成员共同参与核孔复合体的形成，负责调控细胞核与细胞质之间的物质运输，包括RNA和蛋白质的转运。NUP98基因位于人类染色体11p15.4，编码的蛋白包含多个苯丙氨酸-甘氨酸（FG）重复序列，这些序列在核转运过程中与转运受体相互作用，帮助分子选择性通过核孔。NUP98在细胞分裂、基因表达调控和染色质组织中也发挥关键作用。NUP98的突变或异常表达与多种疾病相关，尤其是血液系统恶性肿瘤，如急性髓系白血病（AML）和骨髓增生异常综合征（MDS）。常见的致病机制是NUP98与其他基因（如HOXA9、PMX1等）发生融合，形成致癌融合蛋白，干扰正常造血分化并促进白血病发生。NUP98过表达可能破坏核转运平衡，影响细胞周期调控和凋亡，导致基因组不稳定；而表达降低则可能损害核质运输功能，影响细胞存活。此外，NUP98还参与病毒感染过程，某些病毒利用其FG重复区进入细胞核。该基因的突变或缺失在小鼠模型中会导致胚胎致死，表明其在发育中不可或缺。NUP98基因家族成员通常具有保守的FG重复结构域，并在核孔复合体组装和功能中发挥协同作用。
Signal-mediated nuclear import and export proceed through the nuclear pore complex (NPC), which is comprised of approximately 50 unique proteins collectively known as nucleoporins. The 98 kDa nucleoporin is generated through a biogenesis pathway that involves synthesis and proteolytic cleavage of a 186 kDa precursor protein. This cleavage results in the 98 kDa nucleoporin as well as a 96 kDa nucleoporin, both of which are localized to the nucleoplasmic side of the NPC. Rat studies show that the 98 kDa nucleoporin functions as one of several docking site nucleoporins of transport substrates. The human gene has been shown to fuse to several genes following chromosome translocations in acute myelogenous leukemia (AML) and T-cell acute lymphocytic leukemia (T-ALL). This gene is one of several genes located in the imprinted gene domain of 11p15.5, an important tumor-suppressor gene region. Alterations in this region have been associated with the Beckwith-Wiedemann syndrome, Wilms tumor, rhabdomyosarcoma, adrenocortical carcinoma, and lung, ovarian, and breast cancer. Alternative splicing of this gene results in several transcript variants; however, not all variants have been fully described. [provided by RefSeq, May 2010]
信号介导核进口和出口通过核孔复合物（NPC），它是由统称为核孔蛋白大约50个独特的蛋白质进行。 98 kDa的核孔蛋白是通过涉及合成和186 kDa的前体蛋白的蛋白水解切割一个生物合成途径产生。这两者在98 kDa的核孔蛋白这种分裂的结果，以及一个96 kDa的核孔蛋白，定位于全国的核质的一面。鼠的研究表明，在98 kDa的核孔蛋白功能的传输衬底的若干停靠站点核孔蛋白之一。人类基因已经显示熔合到下面的急性骨髓性白血病（AML）和T-细胞急性淋巴细胞性白血病（T-ALL）染色体易位的几个基因。该基因是位于11p15.5的印迹基因域，一个重要的肿瘤抑制基因区的几个基因中的一个。在这一区域的改变已与贝克威思-威德曼综合征，肾母细胞瘤，横纹肌肉瘤，肾上腺皮质癌和肺癌，卵巢癌和乳腺癌有关。在几个转录变异体本基因的结果的选择性剪接;然而，并非所有的变体已被充分地描述。 [由RefSeq的，2010年5月提供]
基因本体信息
NUP98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
NUP98基因的本体（GO）信息：
| 名称 |
|---|
| 3013 RNA transport [PATH:hsa03013] |
| 5164 Influenza A [PATH:hsa05164] |
| 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 |
| Leukemia, Myelocytic, Acute | 0.160242918 | 83 | 0 | BeFree_CTD_human_LHGDN |
| MYELODYSPLASTIC SYNDROME | 0.008977445 | 14 | 0 | BeFree_LHGDN |
| leukemia | 0.00842463 | 22 | 0 | BeFree_LHGDN |
| Leukemogenesis | 0.005157396 | 19 | 0 | BeFree |
| Myeloid Leukemia, Chronic | 0.004614512 | 17 | 0 | BeFree |
| Myeloid Leukemia | 0.004353001 | 6 | 0 | BeFree_LHGDN |
| Preleukemia | 0.003800186 | 14 | 0 | BeFree |
| Hematologic Neoplasms | 0.003528744 | 13 | 0 | BeFree |
| HIV Infections | 0.00272435 | 1 | 0 | LHGDN |
| Acute leukemia | 0.002442977 | 9 | 0 | BeFree |
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