Gene
ascl1b
- ID
- ZDB-GENE-980526-174
- Name
- achaete-scute family bHLH transcription factor 1b
- Symbol
- ascl1b Nomenclature History
- Previous Names
-
- ashb
- Zash-1b (1)
- zashb
- Type
- protein_coding_gene
- Location
- Chr: 7 Mapping Details/Browsers
- Description
- Predicted to have DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II transcription regulatory region sequence-specific DNA binding activity. Involved in chordate embryonic development; endocrine pancreas development; and hindbrain morphogenesis. Predicted to localize to RNA polymerase II transcription regulator complex. Is expressed in several structures, including central nervous system; neural plate; neural tube; neurons; and posterior neural keel. Human ortholog(s) of this gene implicated in congenital central hypoventilation syndrome. Orthologous to several human genes including ASCL2 (achaete-scute family bHLH transcription factor 2).
- Genome Resources
- Note
- None
- All Expression Data
- 62 figures from 36 publications
- Cross-Species Comparison
- High Throughput Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- Fig. S3 from Ghaye et al., 2015
- 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
Type | InterPro ID | Name |
---|---|---|
Domain | IPR011598 | Myc-type, basic helix-loop-helix (bHLH) domain |
Domain | IPR020859 | Roc domain |
Domain | IPR032171 | C-terminal of Roc (COR) domain |
Family | IPR015660 | Achaete-scute transcription factor-related |
Homologous_superfamily | IPR027417 | P-loop containing nucleoside triphosphate hydrolase |
Homologous_superfamily | IPR032675 | Leucine-rich repeat domain superfamily |
Homologous_superfamily | IPR036638 | Helix-loop-helix DNA-binding domain superfamily |
Repeat | IPR001611 | Leucine-rich repeat |
Repeat | IPR003591 | Leucine-rich repeat, typical subtype |
Repeat | IPR025875 | Leucine rich repeat 4 |
Domain Details Per Protein
Protein | Length | Achaete-scute transcription factor-related | C-terminal of Roc (COR) domain | Helix-loop-helix DNA-binding domain superfamily | Leucine-rich repeat | Leucine rich repeat 4 | Leucine-rich repeat domain superfamily | Leucine-rich repeat, typical subtype | Myc-type, basic helix-loop-helix (bHLH) domain | P-loop containing nucleoside triphosphate hydrolase | Roc domain |
---|---|---|---|---|---|---|---|---|---|---|---|
UniProtKB:A0A2R8S0I4
|
863 | ||||||||||
UniProtKB:Q90260
|
195 | ||||||||||
UniProtKB:E7F965
|
829 |
Type | Name | Length (nt) | Analysis |
---|---|---|---|
mRNA |
ascl1b-203
(1)
|
1273 nt |
Interactions and Pathways
No data available
Plasmids
No data available