HEY1
Description
The HEY1 (hes related family bHLH transcription factor with YRPW motif 1) is a protein-coding gene located on chromosome 8.
The HEY1 gene encodes a nuclear protein belonging to the hairy and enhancer of split-related (HESR) family of basic helix-loop-helix (bHLH)-type transcriptional repressors. Its expression is induced by the Notch and c-Jun signal transduction pathways. Two similar and redundant genes in mice are essential for embryonic cardiovascular development and are also implicated in neurogenesis and somitogenesis. Alternative splicing leads to multiple transcript variants. A HEY1::NCOA2 fusion, which can occur due to a small deletion del(8)(q13.3q21.1), is highly specific for the diagnosis of mesenchymal chondrosarcoma.
HEY1 is a transcriptional repressor that binds to the E box sequence 5'-CACGTG-3' and acts as a downstream effector of Notch signaling. It is essential for cardiovascular development, particularly in the Notch-induced endocardial epithelial to mesenchymal transition, which is crucial for cardiac valve and septum development. It may also play a role in specifying arterial cell fate in conjunction with HEY2. HEY1 promotes maintenance of neuronal precursor cells and influences glial versus neuronal fate specification. It represses transcription by the cardiac transcriptional activators GATA4 and GATA6 and by the neuronal bHLH factors ASCL1/MASH1 and NEUROD4/MATH3. HEY1 is involved in regulating liver cancer cell self-renewal.
HEY1 is also known as BHLHb31, CHF2, HERP2, HESR1, HRT-1, NERP2, OAF1, hHRT1.
