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

Expression

All Expression Data

62 figures from 36 publications

Cross-Species Comparison

High Throughput Data

No data available

Wild Type Expression Summary

Phenotype

All Phenotype Data: Fig. S3 from Ghaye et al., 2015
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With ascl1b 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 ascl1b 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
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