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
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
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Ensembl Gene Tree
Citations