ASCL1 Gene Summary [Human]
This gene encodes a member of the basic helix-loop-helix (BHLH) family of transcription factors. The protein activates transcription by binding to the E box (5'-CANNTG-3'). Dimerization with other BHLH proteins is required for efficient DNA binding. This protein plays a role in the neuronal commitment and differentiation and in the generation of olfactory and autonomic neurons. Mutations in this gene may contribute to the congenital central hypoventilation syndrome (CCHS) phenotype in rare cases. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | ASCL1 |
| Official Name | achaete-scute family bHLH transcription factor 1 [Source:HGNC Symbol;Acc:HGNC:738] |
| Ensembl ID | ENSG00000139352 |
| Bio databases IDs | |
| Aliases | achaete-scute family bHLH transcription factor 1 |
| Synonyms | achaete-scute family bHLH transcription factor 1, ASH1, bHLHa46, CEPA, HASH1, MASH1 |
| 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 ASCL1 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
- chromatin binding
- 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
- helix-loop-helix 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
- epithelial cancer
- breast cancer
- dyspnea
- organismal death
- colon epithelial cancer
- Huntington disease
- hyperplasia
- small cell lung cancer
- tumorigenesis
- metaplasia
role in cell
- expression in
- binding in
- apoptosis
- proliferation
- quantity
- migration
- differentiation
- number
- maturation
- transdifferentiation
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
- nucleoplasm
- chromatin
- perikaryon
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human ASCL1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- regulation of timing of subpallium neuron differentiation
- response to epidermal growth factor stimulus
- olfactory pit development
- lung epithelial cell differentiation
- subpallium neuron fate commitment
- neurogenesis
- central nervous system neuron development
- vestibular nucleus development
- sympathetic nervous system development
- response to retinoic acid
- neuroblast proliferation
- negative regulation of transcription, DNA-dependent
- cellular response to magnetism
- neuron differentiation
- commitment of neuronal cell to specific neuron type in forebrain
- cerebral cortex development
- regulation of mitotic cell cycle
- sensory organ development
- musculoskeletal movement, spinal reflex action
- regulation of epithelial cell differentiation
- Notch signaling pathway
- regulation of gene expression
- positive regulation of neurogenesis
- regulation of neurogenesis
- oligodendrocyte development
- negative regulation of neuron differentiation
- positive regulation of cell cycle
- positive regulation of neuron differentiation
- positive regulation of transcription from RNA polymerase II promoter
- cerebral cortex GABAergic interneuron differentiation
- positive regulation of Notch signaling pathway
- spinal cord oligodendrocyte cell fate specification
- positive regulation of neuron apoptotic process
- peripheral nervous system neuron development
- negative regulation of transcription from RNA polymerase II promoter
- heart development
- neuron fate specification
- neuron fate commitment
- positive regulation of neural precursor cell proliferation
- lung neuroendocrine cell differentiation
- stomach neuroendocrine cell differentiation
- carotid body glomus cell differentiation
- spinal cord association neuron differentiation
- neuroblast fate determination
- cell maturation
- neuron development
- adrenal chromaffin cell differentiation
- ventral spinal cord interneuron fate commitment
- noradrenergic neuron development
- noradrenergic neuron fate commitment
- negative regulation of apoptotic process
- response to folic acid
Cellular Component
Where in the cell the gene product is active
- nucleus
- neuronal cell body
- chromatin
Molecular Function
What the gene product does at the molecular level
- identical protein binding
- RNA polymerase II core promoter proximal region sequence-specific DNA binding
- RNA polymerase II regulatory 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
- chromatin binding
- bHLH transcription factor binding
- sequence-specific DNA binding RNA polymerase II transcription factor activity
- nucleic acid binding
- sequence-specific DNA binding transcription factor activity
- protein binding
- E-box binding