核孔复合物(NPC)调节大分子在细胞核和细胞质之间的转运,由许多多肽亚单位组成,其中许多属于核孔蛋白家族。该基因属于核孔蛋白基因家族,编码一个186kDa前体蛋白,该前体蛋白经过自保护裂解产生一个98kDa的核孔蛋白和96kDa的核孔蛋白。98kDa核孔蛋白包含一个gly-leu-phe-gly(glgf)重复域,参与许多细胞过程,包括核输入、核输出、有丝分裂进程和基因表达调控。96kDa核蛋白是鼻咽癌的支架成分。蛋白水解酶对鼻咽癌的靶向研究具有重要意义。在不同的白血病患者中,观察到该基因与许多其他伙伴基因之间的易位。重排通常导致与该基因的N末端glgf结构域的嵌合到伙伴基因的C末端。选择性剪接导致编码不同亚型的多个转录变体,其中至少两个亚型被蛋白水解处理。有些变体缺少编码96kDa核仁孔蛋白的区域。
Nuclear pore complexes (NPCs) regulate the transport of macromolecules between the nucleus and cytoplasm, and are composed of many polypeptide subunits, many of which belong to the nucleoporin family. This gene belongs to the nucleoporin gene family and encodes a 186 kDa precursor protein that undergoes autoproteolytic cleavage to generate a 98 kDa nucleoporin and 96 kDa nucleoporin. The 98 kDa nucleoporin contains a Gly-Leu-Phe-Gly (GLGF) repeat domain and participates in many cellular processes, including nuclear import, nuclear export, mitotic progression, and regulation of gene expression. The 96 kDa nucleoporin is a scaffold component of the NPC. Proteolytic cleavage is important for targeting of the proteins to the NPC. Translocations between this gene and many other partner genes have been observed in different leukemias. Rearrangements typically result in chimeras with the N-terminal GLGF domain of this gene to the C-terminus of the partner gene. Alternative splicing results in multiple transcript variants encoding different isoforms, at least two of which are proteolytically processed. Some variants lack the region that encodes the 96 kDa nucleoporin.

基因名:NUP98
别名:ADIR2,NUP196,NUP96
基因ID:4928
Chromosome:
(GRCh37)
11 Start: 3692313 End: 3819022 Strand: -1
信号通路: