UBE2D1 - ubiquitin conjugating enzyme E2 D1 Gene

中文名称：泛素结合酶 E2 D1

种属: Homo sapiens

同用名: SFT; UBCH5; UBC4/5; UBCH5A; E2(17)KB1

关于 UBE2D1

功能概要

用泛素修饰蛋白质是靶向异常或短寿命蛋白质进行降解的重要细胞机制。泛素化至少涉及三类酶：泛素激活酶或 E1、泛素结合酶或 E2，以及泛素-蛋白质连接酶或 E3。该基因编码 E2 泛素结合酶家族的成员。这种酶与铁转运刺激物 (SFT) 密切相关，在遗传性血色素沉着症中上调。它还通过与 E1 泛素激活酶和 E3 泛素蛋白连接酶相互作用，在肿瘤抑制蛋白 p53 和缺氧诱导转录因子 HIF1alpha 的泛素化中发挥作用。已发现该基因的两个转录本变体编码不同的亚型。[RefSeq 提供，2011 年 3 月]

The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating Enzymes, or E1s, ubiquitin-conjugating Enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. This enzyme is closely related to a stimulator of iron transport (SFT), and is up-regulated in hereditary hemochromatosis. It also functions in the ubiquitination of the tumor-suppressor protein p53 and the hypoxia-inducible transcription factor HIF1alpha by interacting with the E1 ubiquitin-activating enzyme and the E3 ubiquitin-protein ligases. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2011]