中国科学技术大学学报 ›› 2018, Vol. 48 ›› Issue (10): 853-861.DOI: 10.3969/j.issn.0253-2778.2018.10.012

• 原创论文 • 上一篇    下一篇

ABC转运蛋白与人类疾病

侯文韬   

  1. 中国科学技术大学生命科学学院,安徽合肥 230027
  • 收稿日期:2018-08-03 修回日期:2018-09-05 出版日期:2018-10-31 发布日期:2018-10-31
  • 通讯作者: 周丛照
  • 作者简介:侯文韬,男,1986年生,博士/副研究员.研究方向:疾病相关膜蛋白的结构功能研究.E-mail:todvince@mail.ustc.edu.cn
  • 基金资助:
    国家重大科学研究计划(2015CB910103),“科大新医学”联合基金资助.

ABC transporters and human diseases

HOU Wentao   

  1. School of Life Sciences, University of Science and Technology of China, Hefei 230027, China
  • Received:2018-08-03 Revised:2018-09-05 Online:2018-10-31 Published:2018-10-31

摘要: ABC转运蛋白,即ATP结合盒转运蛋白(ATP binding cassette transporters),是一类广泛存在于生物界的主动运输蛋白.它由四个结构域组成:两个跨膜结构域(transmembrane domain,TMD)和两个核酸结合结构域(nucleotide-binding domain,NBD).ABC转运蛋白通过NBD水解三磷酸腺苷(adenosine triphosphate,ATP)将底物逆化学势能经由TMD进行跨膜运输.ABC转运蛋白广泛参与各种生理过程,因为几乎所有具有生理功能的分子都是ABC转运蛋白的底物.人类基因组共编码48个ABC转运蛋白,其功能的异常与人类重大疾病直接相关.本文简要介绍人类ABC转运蛋白的分类和结构特征,并着重关注人类ABC转运蛋白结构与功能研究的最新进展以及与人类重大疾病的关系.

关键词: ABC转运蛋白, 分类, 结构, 人类疾病

Abstract: Adenosine triphosphate(ATP) binding cassette transporters, known as ABC transporters, is a kind of active transporters which can be found in all kingdoms of life. It normally consists of four domains: two transmembrane domains (TMD) and two nucleotide-binding domains (NBD). NBDs hydrolyzes ATPs, and the produced energy can be used by TMDs to transport substrates across the membrane against the chemical potential. ABC transporters anticipate in a variety of physiological process, because almost all functional molecules can be recognized as substrates by ABC transporters. The human genome encodes 48 ABC transporters in total, and dysfunction of the transporters is directly related to some major diseases. This essay summarized the classification and features of human ABCs, and emphasized the latest research progress of structure studies of human ABC transporters, as well as their relations with human diseases.

Key words: ABC transporter, classification, structure, human disease