HEYL Gene Summary [Human]
This gene encodes a member of the hairy and enhancer of split-related (HESR) family of basic helix-loop-helix (bHLH)-type transcription factors. The sequence of the encoded protein contains a conserved bHLH and orange domain, but its YRPW motif has diverged from other HESR family members. It is thought to be an effector of Notch signaling and a regulator of cell fate decisions. Alternatively spliced transcript variants have been found, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | HEYL |
| Official Name | hes related family bHLH transcription factor with YRPW motif like [Source:HGNC Symbol;Acc:HGNC:4882] |
| Ensembl ID | ENSG00000163909 |
| Bio databases IDs | |
| Aliases | hes related family bHLH transcription factor with YRPW motif like, hairy/enhancer-of-split related with YRPW motif 3 |
| Synonyms | bHLHb33, hairy/enhancer-of-split related with YRPW motif-like, HESR3, hes-related family bHLH transcription factor with YRPW motif-like, HEY3, HRT3 |
| 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 HEYL often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- RNA polymerase II transcription regulatory region sequence-specific binding transcriptional activator activity
- transcription regulator
- AF-1 domain binding
- nucleic acid binding
- basic Helix Loop Helix (bHLH) domain superfamily
- protein binding
- sequence-specific DNA 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
- protein homodimerization
- Hairy Orange
- Helix-loop-helix DNA-binding domain
- transcription factor activity
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- cancer
- acute myeloid leukemia
- organismal death
role in cell
- expression in
- apoptosis
- proliferation
- differentiation
- growth
- transformation
- number
- development
- 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
- Cytoplasm
- nucleoplasm
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human HEYL gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- outflow tract morphogenesis
- anterior/posterior pattern specification
- positive regulation of neuron differentiation
- epithelial to mesenchymal transition involved in endocardial cushion formation
- positive regulation of transcription from RNA polymerase II promoter
- negative regulation of androgen receptor signaling pathway
- negative regulation of transcription from RNA polymerase II promoter
- endocardial cushion morphogenesis
- skeletal muscle cell differentiation
- negative regulation of transcription, DNA-dependent
- cellular response to BMP stimulus
- cardiac ventricle morphogenesis
- aortic valve morphogenesis
- atrioventricular valve morphogenesis
- mesenchymal cell development
- pulmonary valve morphogenesis
- cardiac epithelial to mesenchymal transition
- negative regulation of sequence-specific DNA binding transcription factor activity
- ventricular septum morphogenesis
- regulation of transcription from RNA polymerase II promoter
- negative regulation of gene expression
- glomerulus development
- Notch signaling pathway
- proximal tubule development
- circulatory system development
- regulation of neurogenesis
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
- AF-1 domain binding
- protein homodimerization activity
- protein binding
- RNA polymerase II core promoter proximal region sequence-specific DNA binding
- RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription
- 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