The Human Transcription Factors

Samuel Lambert1,*, Arttu Jolma2,*, Laura Campitelli1,*, Pratyush Das3, Yimeng Yin4, Mihai Albu2, Xiaoting Chen5, Jussi Taipale3,4,6,^, Timothy R. Hughes1,2,^, and Matthew T. Weirauch5,7,8,^


1 Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada
2 Donnelly Centre, University of Toronto, Toronto, ON, Canada
3 Genome-Scale Biology Program, University of Helsinki, Helsinki, Finland
4 Division of Functional Genomics and Systems Biology, Department of Medical Biochemistry and Biophysics, Karolinska Institutet, Solna, Sweden
5 Center for Autoimmune Genomics and Etiology (CAGE), Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA
6 Department of Biochemistry, Cambridge University, Cambridge, Great Britain
7 Divisions of Biomedical Informatics and Developmental Biology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA
8 Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA

^ To whom correspondence should be addressed:
Matthew.Weirauch@cchmc.org
t.hughes@utoronto.ca
ajt208@cam.ac.uk

Abstract

Transcription factors (TFs) recognize specific DNA sequences to control chromatin and transcription, forming a complex system that guides expression of the genome. Despite keen interest in understanding how TFs control gene expression, it remains challenging to determine how the precise genomic binding sites of TFs are specified and how TF binding ultimately relates to regulation of transcription. This review considers how TFs are identified and functionally characterized, principally through the lens of a catalog of over 1,600 likely human TFs and binding motifs for two-thirds of them. Major classes of human TFs differ markedly in their evolutionary trajectories and expression patterns, underscoring distinct functions. TFs likewise underlie many different aspects of human physiology, disease, and variation, highlighting the importance of continued effort to understand TF-mediated gene regulation.

This website contains the catalog of 1639 known and likely human TFs and their motifs (version 1.01)

Summary of final decisions