TBC蛋白家族成员在人类疾病发生发展中的作用

doi:10.16288/j.yczz.17-343

遗传 ›› 2018, Vol. 40 ›› Issue (1): 12-21.doi: 10.16288/j.yczz.17-343

TBC蛋白家族成员在人类疾病发生发展中的作用

施梦婷^1,²(),张莹²,周钢桥^{^1,²}()

1. 广西医科大学研究生院,南宁 530021
2. 军事科学院军事医学研究院辐射医学研究所,蛋白质组学国家重点实验室,国家蛋白质科学中心(北京),北京 100850

收稿日期:2017-10-22 修回日期:2017-12-12 出版日期:2018-01-20 发布日期:2017-12-22
基金资助:
国家自然科学基金资助(81401981)

The critical roles of TBC proteins in human diseases

Mengting Shi^1,²(),Ying Zhang²,Gangqiao Zhou^{^1,²}()

1. Graduate School, Guangxi Medical University, Nanning 530021, China
2. National Center for Protein Sciences, the State Key Lab of Proteomics, Beijing Institute of Radiation Medicine, Beijing 100850, China

Received:2017-10-22 Revised:2017-12-12 Online:2018-01-20 Published:2017-12-22
Supported by:
the National Science Foundation of China(81401981)

摘要/Abstract

摘要：

TBC(Tre-2/Bub2/Cdc16)是真核生物中普遍存在的一种由200个氨基酸残基组成的保守性蛋白质结构域,含有该结构域的蛋白质被称为TBC蛋白。TBC蛋白具有GTPase激活活性,可促进小G蛋白Rab-GTP水解为Rab-GDP,从而参与特异的胞内转运过程。在哺乳动物中,部分TBC蛋白具有十分重要的作用,其功能异常与人类疾病的发生发展密切相关。本文主要介绍了哺乳动物TBC蛋白的结构和功能,以及近年来TBC蛋白在人类疾病发生发展中的作用,以期为深入解析TBC蛋白的致病机制提供参考。

关键词: Rab, TBC, GTP酶激活蛋白, 转运

Abstract:

The Tre-2/Bub2/Cdc16 (TBC) domain is a conserved protein motif consisting of approximately 200 amino acids, and is present in many eukaryotic proteins. TBC domain-containing proteins (TBC proteins) function as GTPase activating proteins (GAPs) for the small GTPase Rab, which can promote the hydrolysis of Rab-GTP to Rab-GDP in regulation of specific intracellular trafficking pathways. Several TBC proteins play important roles in cellular functions in mammals, and defects of which are closely associated with numerous disease processes. In this review, we summarize the structures and functions of the mammalian TBC proteins and recent advances in understanding their critical roles in the development of human diseases. This review serves as a reference for further investigations on the functions of TBC proteins in disease pathogeneses.

Key words: Rab, TBC, GTPase activating protein, trafficking

施梦婷, 张莹, 周钢桥. TBC蛋白家族成员在人类疾病发生发展中的作用[J]. 遗传, 2018, 40(1): 12-21.

Mengting Shi, Ying Zhang, Gangqiao Zhou. The critical roles of TBC proteins in human diseases[J]. Hereditas(Beijing), 2018, 40(1): 12-21.

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TBC蛋白家族成员在人类疾病发生发展中的作用

The critical roles of TBC proteins in human diseases

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