NUP93
小结
NUP93编码蛋白是核孔蛋白复合物的亚基，是跨细胞核膜大分子交换所必需的。NUP93的活性促进和维持核孔复合物的正确组装。功能性研究表明，功能研究表明，NUP93通过在超增强子位点束缚染色质而在基因调节中发挥作用，以产生转录抑制或激活所必需的结构环境。虽然在各种实体瘤中观察到NUP93拷贝数改变，但NUP93突变比较罕见。
NUP93 encodes subunit of the nucleoporin complex that controls the transport of molecules across the nuclear envelope.NUP93 is a subunit of the nuclear pore complex that is essential for the exchange of macromolecules across the nuclear envelope. NUP93 activity promotes and maintains the correct assembly of the nuclear pore complex. Functional studies have suggested that NUP93 plays a role in gene regulation by tethering chromatin at superenhancer sites to generate the necessary structural environment for transcriptional repression or activation. Expression of NUP93, along with other members of the nucleoporin complex, is increased in cardiac tissue of patients with heart failure and decreased in the thymus of patients with Down syndrome . While NUP93 copy number alterations are observed in a variety of solid cancers, NUP93 mutations in human cancers are not common. However, a recent analysis identified the NUP93 E14K mutation as a hotspot mutation with unknown function in multiple cancers.