HEY1 Gene Summary [Human]
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, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | HEY1 |
| Official Name | hes related family bHLH transcription factor with YRPW motif 1 [Source:HGNC Symbol;Acc:HGNC:4880] |
| Ensembl ID | ENSG00000164683 |
| Bio databases IDs | |
| Aliases | hes related family bHLH transcription factor with YRPW motif 1 |
| Synonyms | BHLHb31, CHF2, hairy/enhancer-of-split related with YRPW motif 1, HERP2, HESR1, hes-related family bHLH transcription factor with YRPW motif 1, hHRT1, HRT-1, NERP2, OAF1 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human HEY1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- transcription regulator
- nucleic acid binding
- basic Helix Loop Helix (bHLH) domain superfamily
- transcription factor binding
- protein binding
- sequence-specific DNA binding
- identical protein binding
- RNA polymerase II transcription factor activity, sequence-specific DNA binding
- RNA polymerase II transcription regulatory region sequence-specific binding transcriptional repressor activity
- double-stranded DNA binding
- helix loop helix domain
- Hairy Orange
- helix-loop-helix domain
- Helix-loop-helix DNA-binding domain
- transcription factor activity
- hydrophobic domain
- YRPW motif
Pathways
Biological processes and signaling networks where the HEY1 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- cancer
- bleeding
- keratocystic odontogenic tumor
- keratocystic odontogenic tumors
- acute myeloid leukemia
- metastasis
- glioma formation
- pancreatic ductal adenocarcinoma
- pancreatic epithelial cancer
- ductal pancreatic cancer
role in cell
- formation
- expression in
- generation
- apoptosis
- development
- differentiation
- binding in
- proliferation
- migration
- size
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- detergent resistant lipid raft fraction
- Cytoplasm
- perinuclear region
- nucleoplasm
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human HEY1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- atrioventricular valve formation
- anterior/posterior pattern specification
- negative regulation of neuron differentiation
- negative regulation of smooth muscle cell differentiation
- positive regulation of transcription from RNA polymerase II promoter
- negative regulation of Notch signaling pathway
- arterial endothelial cell differentiation
- heart trabecula formation
- endocardial cushion morphogenesis
- negative regulation of transcription from RNA polymerase II promoter
- negative regulation of transcription, DNA-dependent
- cardiac ventricle morphogenesis
- angiogenesis
- negative regulation of biomineral tissue development
- dorsal aorta morphogenesis
- aortic valve morphogenesis
- cardiac conduction system development
- pulmonary valve morphogenesis
- cardiac epithelial to mesenchymal transition
- cardiac septum morphogenesis
- ventricular septum morphogenesis
- regulation of transcription from RNA polymerase II promoter
- Notch signaling pathway
- labyrinthine layer blood vessel development
- circulatory system development
- regulation of neurogenesis
- regulation of vasculogenesis
Cellular Component
Where in the cell the gene product is active
- nucleus
- cytoplasm
- chromatin
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- sequence-specific DNA binding transcription factor activity
- protein binding
- RNA polymerase II core promoter proximal region sequence-specific DNA binding
- core promoter proximal region sequence-specific DNA binding
- protein dimerization activity
- RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription
- sequence-specific DNA binding RNA polymerase II transcription factor activity