菜单 基因医生

通过泛素-蛋白酶体系统(ups)调节真核生物中错误折叠、损伤或短命蛋白质的降解。UPS系统的一个组成部分是靶蛋白的泛素化和含Ub蛋白的共价连接形成聚合链,将其标记为26S蛋白酶体介导的降解靶蛋白质泛素化是由一系列酶介导的,这些酶包括E1(泛素激活)、E2(泛素结合)和E3(泛素连接酶)这个基因编码E2酶家族的一个成员。该酶的底物包括肿瘤抑制蛋白p53和过氧化物酶体生物发生因子5(pEX5)。选择性剪接导致该基因的多个转录变体[由RefSeq提供,2013年5月]
Regulated degradation of misfolded, damaged or short-lived proteins in eukaryotes occurs via the ubiquitin (Ub)-proteasome system (UPS). An integral part of the UPS system is the ubiquitination of target proteins and covalent linkage of Ub-containing proteins to form polymeric chains, marking them as targets for 26S proteasome-mediated degradation. Ubiquitination of proteins is mediated by a cascade of enzymes which includes E1 (ubiquitin activating), E2 (ubiquitin conjugating), and E3 (ubiquitin ligases) enzymes. This gene encodes a member of the E2 enzyme family. Substrates of this enzyme include the tumor suppressor protein p53 and peroxisomal biogenesis factor 5 (PEX5). Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, May 2013]

基因名:UBE2D2
别名:UBC4,PUBC1,UBCH4,UBC4/5,UBCH5B,E2(17)KB2
基因ID:7322
Chromosome:
(GRCh37)
5 Start: 138940751 End: 139008019 Strand: 
信号通路:  
UBE2D2 基因突变与药物