Gene
ascl1a
- ID
- ZDB-GENE-980526-90
- Name
- achaete-scute family bHLH transcription factor 1a
- Symbol
- ascl1a Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 4 Mapping Details/Browsers
- Description
- Exhibits sequence-specific DNA binding activity. Involved in several processes, including animal organ development; epithelial cell differentiation; and regulation of gene expression. Predicted to localize to RNA polymerase II transcription regulator complex. Is expressed in several structures, including digestive system; nervous system; neural tube; neuronal stem cell; and optic cup. Human ortholog(s) of this gene implicated in congenital central hypoventilation syndrome. Orthologous to human ASCL1 (achaete-scute family bHLH transcription factor 1).
- Genome Resources
- Note
- None
- All Expression Data
- 139 figures from 84 publications
- Cross-Species Comparison
- High Throughput Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 14 figures from 8 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
congenital central hypoventilation syndrome | Alliance | Central hypoventilation syndrome, congenital | 209880 |
congenital central hypoventilation syndrome | Alliance | Haddad syndrome | 209880 |
Domain, Family, and Site Summary
Domain Details Per Protein
Protein | Length | Achaete-scute transcription factor-related | Helix-loop-helix DNA-binding domain superfamily | Myc-type, basic helix-loop-helix (bHLH) domain |
---|---|---|---|---|
UniProtKB:Q90259
|
196 |
Type | Name | Length (nt) | Analysis |
---|---|---|---|
mRNA |
ascl1a-201
(1)
|
1977 nt |
Interactions and Pathways
No data available
Name | Type | Antigen Genes | Isotype | Host Organism | Assay | Source | Citations |
---|---|---|---|---|---|---|---|
Ab1-ascl1 | polyclonal | Rabbit |
|
Sigma-Aldrich
|
3 |
Plasmids
No data available