NPM1
小结
NPM1是抑癌基因，编码蛋白是一种核仁磷酸蛋白，参与调节多种细胞活动，包括调节核糖体的生物合成、mRNA的加工、染色质重塑、细胞凋亡和DNA损伤修复。NPM1参与的几种DNA修复过程的调控：包括同源重组、跨损伤合成和紫外线引起的损伤的修复。NPM1的缺失与基因组不稳定性的增加有关。此外，NPM1在p53抑癌途径的调控中起重要作用。NPM1易位和功能性丧失突变与人类淋巴瘤和白血病相关。
NPM1, also known as nucleophosmin, is a nucleolar phosphoprotein that has diverse cellular functions including regulation of ribosome biogenesis, mRNA processing, chromatin remodeling, apoptosis and DNA damage repair. NPM1 has been implicated in the regulation of several DNA repair processes including homologous recombination, translesion synthesis, and repair of lesions created by UV light. Loss of NPM1 has also been associated with increased genome instability. In addition, NPM1 plays an important role in the regulation of the TP53 tumor suppressor pathway. The TP53-stabilizing protein ARF binds NPM1, sequestering ARF and NPM1 from binding the ubiquitin ligase MDM2 that is responsible for degrading TP53. Disruption of the NPM1-ARF interaction allows NPM1 and ARF to inhibit MDM2-mediated degradation of p53 leading to apoptosis. Translocations and loss-of-function mutations have been identified in various human lymphomas and leukemias.