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。
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]
NUP98基因(以及对应的蛋白质)的细胞分布位置:
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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