BAP31: Physiological functions and roles in disease
BAP31: Physiological functions and roles in disease
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DOI：
10.1016/j.biochi.2021.04.008
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发表时间：
2021-05-07
期刊：
影响因子：
3.9
通讯作者：
Quistgaard, Esben M.
中科院分区：
文献类型：
--
作者：
Quistgaard, Esben M.
ABS T R A C T B细胞受体相关蛋白31(BAP31或BCAP31)是一种广泛表达的跨膜蛋白，主要存在于内质网(ER)，包括线粒体相关膜(MAM)。它作为一种广特异性的膜蛋白伴侣和质量控制因子，可以促进其客户不同的命运，包括内质网滞留、内质网输出、内质网相关降解(ERAD)或逃避降解，也可以作为MAM的系绳和调节蛋白。它参与多种细胞过程--支持内质网和线粒体的动态平衡，促进增殖和迁移，在新陈代谢和免疫系统中发挥多种作用，并调节自噬和细胞凋亡。全长BAP31具有抗细胞凋亡作用，但也能介导caspase-8的激活，其本身被caspase-8切割成p20-BAP31，p20-BAP31通过动员MAMs上的内质网钙储存促进细胞凋亡。BAP31功能缺失突变是导致“耳聋、肌张力障碍和中枢性髓鞘功能减退”(DDCH)综合征的原因，其特征是严重的神经系统症状和早期死亡。此外，BAP31还与越来越多的癌症和其他疾病有关，已发现几种针对BAP31的病毒可以促进它们的生存或生命周期进展。这篇综述的目的是对BAP31的基本性质、功能、机制和在疾病中的作用进行概述和研究。Elsevier B.V.出版。这是一篇基于CC by License(http://creativecommons.org/licenses/by/4.0/).的开放获取文章
ABS T R A C T B-cell receptor-associated protein 31 (BAP31 or BCAP31) is a ubiquitously expressed transmembrane protein found mainly in the endoplasmic reticulum (ER), including in mitochondria-associated mem-branes (MAMs). It acts as a broad-specificity membrane protein chaperone and quality control factor, which can promote different fates for its clients, including ER retention, ER export, ER-associated degradation (ERAD), or evasion of degradation, and it also acts as a MAM tetherer and regulatory pro-tein. It is involved in several cellular processes -it supports ER and mitochondrial homeostasis, pro-motes proliferation and migration, plays several roles in metabolism and the immune system, and regulates autophagy and apoptosis. Full-length BAP31 can be anti-apoptotic, but can also mediate acti-vation of caspase-8, and itself be cleaved by caspase-8 into p20-BAP31, which promotes apoptosis by mobilizing ER calcium stores at MAMs. BAP31 loss-of-function mutations is the cause of 'deafness, dystonia, and central hypomyelination' (DDCH) syndrome, characterized by severe neurological symp-toms and early death. BAP31 is furthermore implicated in a growing number of cancers and other dis-eases, and several viruses have been found to target it to promote their survival or life cycle progression. The purpose of this review is to provide an overview and examination of the basic properties, functions, mechanisms, and roles in disease of BAP31.(c) 2021 The Author. Published by Elsevier B.V. This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/).