ATOH1 Gene Summary [Human]
Enables sequence-specific double-stranded DNA binding activity. Predicted to be involved in neuron differentiation; positive regulation of neuron differentiation; and regulation of transcription by RNA polymerase II. Predicted to act upstream of or within several processes, including generation of neurons; inner ear morphogenesis; and positive regulation of inner ear auditory receptor cell differentiation. Predicted to be part of chromatin. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022]
Details
| Type | Protein Coding |
| Official Symbol | ATOH1 |
| Official Name | atonal bHLH transcription factor 1 [Source:HGNC Symbol;Acc:HGNC:797] |
| Ensembl ID | ENSG00000172238 |
| Bio databases IDs | |
| Aliases | atonal bHLH transcription factor 1, basic helix-loop-helix family member a14 |
| Synonyms | ATH1, atonal bHLH transcription factor 1, bHLHa14, DFNA89, HATH1, MATH-1, RGD1565171 |
| 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 ATOH1 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
- nucleic acid binding
- basic Helix Loop Helix (bHLH) domain superfamily
- chromatin binding
- protein binding
- sequence-specific DNA binding
- DNA binding
- RNA polymerase II transcription factor activity, sequence-specific DNA binding
- double-stranded DNA binding
- helix loop helix domain
- 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
- adenoma formation
- tumorigenesis
- rhabdomyosarcoma
- soft tissue sarcoma cancer
- medulloblastoma
- brain cancer
- cyanosis
- colorectal neoplasm
- profound deafness
- colorectal neoplasia
role in cell
- quantity
- expression in
- apoptosis
- activation in
- proliferation
- migration
- growth
- formation
- maturation
- differentiation
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
- nuclear fraction
- Cytoplasm
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human ATOH1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- auditory receptor cell fate determination
- negative regulation of gliogenesis
- positive regulation of auditory receptor cell differentiation
- transcription from RNA polymerase II promoter
- axon guidance
- positive regulation of neuron differentiation
- cerebral cortex development
- positive regulation of transcription from RNA polymerase II promoter
- sensory organ development
- auditory receptor cell fate specification
- neuron migration
- central nervous system development
- Notch signaling pathway
- neuron fate commitment
- inner ear morphogenesis
Cellular Component
Where in the cell the gene product is active
- nucleus
- chromatin
Molecular Function
What the gene product does at the molecular level
- chromatin DNA binding
- sequence-specific DNA binding transcription factor activity
- protein dimerization activity
- RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription
- sequence-specific DNA binding RNA polymerase II transcription factor activity
- E-box binding