Gene

ascl1a

ID

ZDB-GENE-980526-90

Name

achaete-scute family bHLH transcription factor 1a

Symbol

ascl1a Nomenclature History

Previous Names

asha
Zash-1a (1)
zash1a
id:ibd5085 (1)
pia
pituitary absent
zasha

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

Expression

All Expression Data

139 figures from 84 publications

Cross-Species Comparison

High Throughput Data

No data available

Wild Type Expression Summary

Phenotype

All Phenotype Data: 14 figures from 8 publications
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With ascl1a Human Ortholog

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

Associated With ascl1a Via Experimental Models

No data available

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Domain	IPR011598	Myc-type, basic helix-loop-helix (bHLH) domain
Family	IPR015660	Achaete-scute transcription factor-related
Homologous_superfamily	IPR036638	Helix-loop-helix DNA-binding domain superfamily