USP14 - ubiquitin specific peptidase 14 Gene

中文名称：泛素特异性肽酶 14

种属: Homo sapiens

同用名: TGT; Ubp6

关于 USP14

功能概要

该基因编码泛素特异性加工 (UBP) 蛋白酶家族的一个成员，该家族是一种具有 His 和 Cys 结构域的去泛素化酶 (DUB) 。该蛋白质位于细胞质中并从泛素融合前体和泛素化蛋白质中切割泛素部分。具有导致该蛋白质直系同源物表达减少的突变的小鼠生长迟缓，在 2 至 3 周大时出现严重震颤，随后在 6 至 10 周大时出现后肢麻痹和死亡。已经表征了编码不同亚型的替代转录剪接变体。[RefSeq 提供，2008 年 7 月]

This gene encodes a member of the ubiquitin-specific processing (UBP) family of proteases that is a deubiquitinating Enzyme (DUB) with His and Cys domains. This protein is located in the cytoplasm and cleaves the ubiquitin moiety from ubiquitin-fused precursors and ubiquitinylated proteins. Mice with a mutation that results in reduced expression of the ortholog of this protein are retarded for growth, develop severe tremors by 2 to 3 weeks of age followed by hindlimb paralysis and death by 6 to 10 weeks of age. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]