HES5 Gene Summary [Human]
This gene encodes a member of a family of basic helix-loop-helix transcriptional repressors. The protein product of this gene, which is activated downstream of the Notch pathway, regulates cell differentiation in multiple tissues. Disruptions in the normal expression of this gene have been associated with developmental diseases and cancer. [provided by RefSeq, Dec 2008]
Details
| Type | Protein Coding |
| Official Symbol | HES5 |
| Official Name | hes family bHLH transcription factor 5 [Source:HGNC Symbol;Acc:HGNC:19764] |
| Ensembl ID | ENSG00000197921 |
| Bio databases IDs | |
| Aliases | hes family bHLH transcription factor 5 |
| Synonyms | bHLHb38, hes family bHLH transcription factor 5 |
| 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 HES5 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 factor activity, sequence-specific DNA binding
- transcription regulator
- RNA polymerase II transcription regulatory region sequence-specific binding transcriptional repressor activity
- double-stranded DNA binding
- basic Helix Loop Helix (bHLH) domain superfamily
- helix loop helix domain
- chromatin binding
- Hairy Orange
- protein binding
- Helix-loop-helix DNA-binding domain
- sequence-specific DNA binding
Pathways
Biological processes and signaling networks where the HES5 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
- acute myeloid leukemia
- endometriosis
- immune thrombocytopenia
- androgenic alopecia
- spinocerebellar ataxia type 7
- epileptic seizure
- experimentally-induced diabetes
- Alzheimer disease
role in cell
- proliferation
- adhesion
- differentiation
- apoptosis
- quantity
- formation
- maturation
- hypertrophy
- number
- abnormal morphology
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 HES5 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- neural tube development
- negative regulation of auditory receptor cell differentiation
- inner ear receptor stereocilium organization
- oligodendrocyte development
- telencephalon development
- positive regulation of cell proliferation
- chondrocyte differentiation
- anterior/posterior pattern specification
- negative regulation of neuron differentiation
- negative regulation of astrocyte differentiation
- cell adhesion
- positive regulation of tyrosine phosphorylation of STAT protein
- positive regulation of transcription from RNA polymerase II promoter
- S-shaped body morphogenesis
- neuronal stem cell maintenance
- positive regulation of Notch signaling pathway
- negative regulation of oligodendrocyte differentiation
- negative regulation of transcription from RNA polymerase II promoter
- positive regulation of smooth muscle cell proliferation
- central nervous system myelination
- specification of loop of Henle identity
- glial cell fate commitment
- regulation of cell differentiation
- positive regulation of transcription, DNA-dependent
- BMP signaling pathway
- negative regulation of forebrain neuron differentiation
- negative regulation of stem cell differentiation
- camera-type eye development
- negative regulation of pro-B cell differentiation
- comma-shaped body morphogenesis
- regulation of epithelial cell proliferation
- astrocyte differentiation
- macromolecular complex assembly
- smoothened signaling pathway
- cell maturation
- establishment of epithelial cell polarity
- brain development
- metanephric nephron tubule morphogenesis
- forebrain radial glial cell differentiation
- regulation of transcription from RNA polymerase II promoter
- positive regulation of JAK-STAT cascade
- positive regulation of BMP signaling pathway
- Notch signaling pathway
- auditory receptor cell differentiation
- regulation of myelination
- regulation of neurogenesis
- cartilage development
Cellular Component
Where in the cell the gene product is active
- nucleus
- chromatin
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- RNA polymerase II core promoter proximal region sequence-specific DNA binding
- protein dimerization activity
- chromatin binding
- 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