UBQLN1 - ubiquilin 1 Gene

中文名称：泛素 1

种属: Homo sapiens

同用名: DA41; DSK2; UBQN; XDRP1; PLIC-1

关于 UBQLN1

功能概要

该基因编码一种泛素样蛋白 (ubiquilin) ，与酵母、大鼠和青蛙中的相关产物具有高度相似性。泛素包含一个 N 端泛素样结构域和一个 C 端泛素相关结构域。它们在物理上与蛋白酶体和泛素连接酶结合，因此被认为在功能上将泛素化机制与蛋白酶体联系起来以影响体内蛋白质降解。这种泛素还被证明可以调节早老素蛋白的积累，它存在于与阿尔茨海默病和帕金森病相关的病变中。已发现该基因的两个转录本变体编码不同的亚型。[RefSeq 提供，2008 年 7 月]

This gene encodes an ubiquitin-like protein (ubiquilin) that shares a high degree of similarity with related products in yeast, rat and frog. Ubiquilins contain an N-terminal ubiquitin-like domain and a C-terminal ubiquitin-associated domain. They physically associate with both proteasomes and ubiquitin ligases, and thus are thought to functionally link the ubiquitination machinery to the Proteasome to affect in vivo protein degradation. This ubiquilin has also been shown to modulate accumulation of presenilin proteins, and it is found in lesions associated with Alzheimer's and Parkinson's disease. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]