Escuela Profesional de Genética y Biotecnología, Facultad de Ciencias Biológicas, Universidad Nacional Mayor de San Marcos, Lima 15081, Perú.
Bioinformatics Program, Boston University, Boston, MA 02215, USA.
Mol Cell. 2022 Feb 3;82(3):514-526. doi: 10.1016/j.molcel.2021.11.007. Epub 2021 Dec 3.
Transcription factors (TFs) regulate gene expression by binding to DNA sequences and modulating transcriptional activity through their effector domains. Despite the central role of effector domains in TF function, there is a current lack of a comprehensive resource and characterization of effector domains. Here, we provide a catalog of 924 effector domains across 594 human TFs. Using this catalog, we characterized the amino acid composition of effector domains, their conservation across species and across the human population, and their roles in human diseases. Furthermore, we provide a classification system for effector domains that constitutes a valuable resource and a blueprint for future experimental studies of TF effector domain function.
转录因子（TFs）通过结合 DNA 序列并通过其效应结构域调节转录活性来调节基因表达。尽管效应结构域在 TF 功能中起着核心作用，但目前缺乏对效应结构域的全面资源和特征描述。在这里，我们提供了 594 个人类 TF 中 924 个效应结构域的目录。使用这个目录，我们描述了效应结构域的氨基酸组成、在物种间和人类群体中的保守性，以及它们在人类疾病中的作用。此外，我们还提供了一个效应结构域的分类系统，这是一个有价值的资源，也是未来 TF 效应结构域功能实验研究的蓝图。
