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人类转运蛋白数据库:人类转运蛋白基因方面的全面知识与发现工具。

Human transporter database: comprehensive knowledge and discovery tools in the human transporter genes.

作者信息

Ye Adam Y, Liu Qing-Rong, Li Chuan-Yun, Zhao Min, Qu Hong

机构信息

Center for Bioinformatics, State Key Laboratory of Protein and Plant Gene Research, College of Life Sciences, Peking University, Beijing, China ; Peking-Tsinghua Center for Life Sciences, College of Life Sciences, Peking University, Beijing, China.

Behavioral Neuroscience Research Branch, NIH-IRP (NIDA), Baltimore, Maryland, United States of America.

出版信息

PLoS One. 2014 Feb 18;9(2):e88883. doi: 10.1371/journal.pone.0088883. eCollection 2014.

Abstract

Transporters are essential in homeostatic exchange of endogenous and exogenous substances at the systematic, organic, cellular, and subcellular levels. Gene mutations of transporters are often related to pharmacogenetics traits. Recent developments in high throughput technologies on genomics, transcriptomics and proteomics allow in depth studies of transporter genes in normal cellular processes and diverse disease conditions. The flood of high throughput data have resulted in urgent need for an updated knowledgebase with curated, organized, and annotated human transporters in an easily accessible way. Using a pipeline with the combination of automated keywords query, sequence similarity search and manual curation on transporters, we collected 1,555 human non-redundant transporter genes to develop the Human Transporter Database (HTD) (http://htd.cbi.pku.edu.cn). Based on the extensive annotations, global properties of the transporter genes were illustrated, such as expression patterns and polymorphisms in relationships with their ligands. We noted that the human transporters were enriched in many fundamental biological processes such as oxidative phosphorylation and cardiac muscle contraction, and significantly associated with Mendelian and complex diseases such as epilepsy and sudden infant death syndrome. Overall, HTD provides a well-organized interface to facilitate research communities to search detailed molecular and genetic information of transporters for development of personalized medicine.

摘要

转运蛋白在系统、器官、细胞和亚细胞水平上对内源性和外源性物质的稳态交换至关重要。转运蛋白的基因突变通常与药物遗传学特征相关。基因组学、转录组学和蛋白质组学高通量技术的最新进展使得在正常细胞过程和各种疾病条件下对转运蛋白基因进行深入研究成为可能。高通量数据的大量涌现导致迫切需要一个以易于访问的方式提供经过整理、组织和注释的人类转运蛋白的更新知识库。我们使用了一个结合自动关键词查询、序列相似性搜索和转运蛋白手动整理的流程,收集了1555个人类非冗余转运蛋白基因,以开发人类转运蛋白数据库(HTD)(http://htd.cbi.pku.edu.cn)。基于广泛的注释,阐述了转运蛋白基因的全局特性,如表达模式及其与配体关系中的多态性。我们注意到人类转运蛋白在许多基本生物学过程中富集,如氧化磷酸化和心肌收缩,并且与孟德尔疾病和复杂疾病如癫痫和婴儿猝死综合征显著相关。总体而言,HTD提供了一个组织良好的界面,以方便研究团体搜索转运蛋白的详细分子和遗传信息,用于个性化医学的开发。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c493/3928311/2a2c4421b0c2/pone.0088883.g001.jpg

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