RNF220 Q5VTB9

E3泛素蛋白连接酶RNF220 (EC 2.3.2.27) (RING指蛋白220) (RING型E3泛素转移酶RNF220)

蛋白质信息 (UniProt)

E3泛素蛋白连接酶RNF220 (EC 2.3.2.27) (RING指蛋白220) (RING型E3泛素转移酶RNF220)

Q5VTB9

功能描述

E3 ubiquitin-protein ligase，促进SIN3B的泛素化和蛋白酶体降解 (By similarity)。独立于其E3 ligase活性，通过USP7介导的CTNNB1去泛素化充当CTNNB1稳定因子，从而促进Wnt信号通路 (PubMed:25266658, PubMed:33964137)。在核纤层调控中发挥关键作用 (PubMed:33964137)。 {ECO:0000250|UniProtKB:Q6PDX6, ECO:0000269|PubMed:25266658, ECO:0000269|PubMed:33964137}。

组织特异性

Ubiquitously expressed. Abundant in brain and spinal cord, particularly in the cerebellum and cerebral cortex. In fetal tissues expressed in the cerebellum, spinal cord and cortex.

亚细胞定位

Cytoplasm

关键词

Alternative splicing Cardiomyopathy Coiled coil Cytoplasm Deafness Disease variant Isopeptide bond Leukodystrophy Metal-binding Nucleus

外部链接

UniProt: Q5VTB9

NCBI Gene

GeneCards