WRNIP1 - WRN helicase interacting protein 1 Gene

中文名称：WRN 解旋酶相互作用蛋白 1

种属: Homo sapiens

同用名: WHIP; FAP93; CFAP93; bA420G6.2

关于 WRNIP1

功能概要

Werner 综合征是一种罕见的常染色体隐性遗传病，其特征是加速衰老，这是由 Werner 综合征 ATP 依赖性解旋酶基因 (WRN) 缺陷引起的。由该基因编码的蛋白质与 Werner 蛋白质的含有核酸外切酶的 N 末端部分相互作用。该蛋白质在 N 端有一个泛素结合锌指结构域，一个 ATP 酶结构域，在 C 端有两个亮氨酸拉链基序。它与复制因子 C 家族蛋白具有序列相似性，并且从大肠杆菌到人类都是保守的。这种蛋白质可能通过与多聚泛素化蛋白质相互作用而在 DNA 损伤部位积累，并且还结合 DNA 聚合酶 delta 并增加 DNA 聚合酶 delta 介导的 DNA 合成的起始频率。该蛋白质还与核孔复合物中的核孔蛋白相互作用。已为该基因分离出编码不同亚型的两种转录物变体。[RefSeq 提供，2012 年 7 月]

Werner's syndrome is a rare autosomal recessive disorder characterized by accelerated aging that is caused by defects in the Werner syndrome ATP-dependent helicase gene (WRN). The protein encoded by this gene interacts with the exonuclease-containing N-terminal portion of the Werner protein. This protein has a ubiquitin-binding zinc-finger domain in the N-terminus, an ATPase domain, and two leucine zipper motifs in the C-terminus. It has sequence similarity to replication factor C family proteins and is conserved from E. coli to human. This protein likely accumulates at sites of DNA damage by interacting with polyubiquinated proteins and also binds to DNA Polymerase delta and increases the initiation frequency of DNA Polymerase delta-mediated DNA synthesis. This protein also interacts with nucleoporins at nuclear pore complexes. Two transcript variants encoding different isoforms have been isolated for this gene. [provided by RefSeq, Jul 2012]