HEY1

This 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. Expression of this gene is induced by the Notch and c-Jun signal transduction pathways. Two similar and redundant genes in mouse are required for embryonic cardiovascular development, and are also implicated in neurogenesis and somitogenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq]

Full Name

hairy/enhancer-of-split related with YRPW motif 1

Function

Transcriptional repressor which binds preferentially to the canonical E box sequence 5'-CACGTG-3' (PubMed:11095750).

Downstream effector of Notch signaling required for cardiovascular development. Specifically required for the Notch-induced endocardial epithelial to mesenchymal transition, which is itself criticial for cardiac valve and septum development. May be required in conjunction with HEY2 to specify arterial cell fate or identity. Promotes maintenance of neuronal precursor cells and glial versus neuronal fate specification. Represses transcription by the cardiac transcriptional activators GATA4 and GATA6 and by the neuronal bHLH factors ASCL1/MASH1 and NEUROD4/MATH3 (PubMed:15485867).

Involved in the regulation of liver cancer cells self-renewal (PubMed:25985737).

Biological Process

Angiogenesis Source: UniProtKB
Anterior/posterior pattern specification Source: GO_Central
Aortic valve morphogenesis Source: BHF-UCL
Arterial endothelial cell differentiation Source: BHF-UCL
Atrioventricular valve formation Source: BHF-UCL
Cardiac conduction system development Source: BHF-UCL
Cardiac epithelial to mesenchymal transition Source: BHF-UCL
Cardiac septum morphogenesis Source: BHF-UCL
Cardiac ventricle morphogenesis Source: BHF-UCL
Circulatory system development Source: GO_Central
Dorsal aorta morphogenesis Source: BHF-UCL
Endocardial cushion morphogenesis Source: BHF-UCL
Heart trabecula formation Source: BHF-UCL
Labyrinthine layer blood vessel development Source: BHF-UCL
Negative regulation of biomineral tissue development Source: BHF-UCL
Negative regulation of neuron differentiation Source: GO_Central
Negative regulation of Notch signaling pathway Source: BHF-UCL
Negative regulation of transcription, DNA-templated Source: UniProtKB
Negative regulation of transcription by RNA polymerase II Source: UniProtKB
Negative regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation Source: BHF-UCL
Negative regulation of transcription regulatory region DNA binding Source: BHF-UCL
Notch signaling involved in heart development Source: BHF-UCL
Notch signaling pathway Source: UniProtKB
Positive regulation of gene expression Source: BHF-UCL
Positive regulation of transcription by RNA polymerase II Source: BHF-UCL
Pulmonary valve morphogenesis Source: BHF-UCL
Regulation of neurogenesis Source: GO_Central
Regulation of transcription by RNA polymerase II Source: GO_Central
Regulation of vasculogenesis Source: BHF-UCL
Umbilical cord morphogenesis Source: BHF-UCL
Ventricular septum morphogenesis Source: BHF-UCL

Cellular Location

Nucleus