摘要： 内质网滞留蛋白1(RER1)是位于顺式高尔基体和内质网-高尔基体中间体的一个分子量为23×10³的内质网滞留蛋白。作为蛋白质早期分泌途径的重要质量控制因子之一，RER1识别底物跨膜结构域的内质网滞留信号，通过外被蛋白质复合体Ⅰ将底物从高尔基体逆向转运至内质网。近20年来，RER1的底物陆续在酵母和哺乳动物细胞中被发现。这些底物通常是膜蛋白，包括永久性或暂时性内质网滞留蛋白和多聚复合物的未组装亚基。目前研究表明，RER1通过底物的内质网滞留信号，调节底物的正确定位和充分组装，影响其细胞膜表达水平或引发内质网应激，参与某些疾病的发病机制。本文总结、分析了RER1的功能、底物及其相关疾病，为RER1的未来研究方向提供参考。

内质网滞留蛋白1功能的研究进展

章璐, 刘晓亮, 赵彦艳

中国医科大学附属盛京医院临床遗传科, 沈阳 110004

收稿日期:2023-01-06出版日期:2023-10-30发布日期:2023-10-18
通讯作者:赵彦艳E-mail:yyzhao@sj-hospital.org
作者简介:章璐(1996-),女,硕士研究生.
基金资助:国家重点研发计划（2021YF1005300，2021YF1005303，2021YF1005304)；辽宁省自然科学基金（2022-MS-208)


关键词: 内质网滞留蛋白1, 跨膜结构域, 内质网滞留, 蛋白质质量控制
Abstract: Retention in endoplasmic reticulum 1 (RER1) is a 23×10³ endoplasmic reticulum protein that localizes to cis-Golgi apparatus and endoplasmic reticulum-Golgi apparatus intermediate compartment. As an important quality control factor of early protein secretion， RER1 recognizes endoplasmic reticulum retention signals of the transmembrane domain of substrates and then retrieves the substrates from the Golgi apparatus to the endoplasmic reticulum via coat protein complex Ⅰ. In the last 20 years，substrates of RER1 have been identified in yeast and mammalian cells. These substrates are always membrane proteins，including permanent or temporary endoplasmic reticulum resident proteins and unassembled subunits of polymeric complexes. Current studies have shown that RER1 regulates correct substrate location and full assembly，affects the expression level of substrates of cell membranes or induces endoplasmic reticulum stress， and contributes to the pathogenesis of certain diseases through endoplasmic reticulum retention signal of substrates. This article summarizes the function，substrates，and RER1-related diseases to provide references for future directions in the research on RER1.
Key words: retention in endoplasmic reticulum 1, transmembrane domain, endoplasmic reticulum retention, protein quality control
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