UBR1 - ubiquitin protein ligase E3 component n-recognin 1 Gene

中文名称：泛素蛋白连接酶 E3 组分 n-识别素 1

种属: Homo sapiens

同用名: JBS

关于 UBR1

功能概要

N 端规则途径是泛素系统的一种蛋白水解途径。由该基因编码的该途径的识别组分与底物蛋白的不稳定 N 末端残基结合，并参与底物连接的多泛素链的形成。这导致底物蛋白的最终降解。该记录中描述的蛋白质具有 RING 型锌指和 UBR 型锌指。该基因的突变与 Johanson-Blizzard 综合症有关。[RefSeq 提供，2008 年 7 月]

The N-end rule pathway is one proteolytic pathway of the ubiquitin system. The recognition component of this pathway, encoded by this gene, binds to a destabilizing N-terminal residue of a substrate protein and participates in the formation of a substrate-linked multiubiquitin chain. This leads to the eventual degradation of the substrate protein. The protein described in this record has a RING-type zinc finger and a UBR-type zinc finger. Mutations in this gene have been associated with Johanson-Blizzard syndrome. [provided by RefSeq, Jul 2008]