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
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
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
Name Type Antigen Genes Isotype Host Organism Assay Source Citations
Ab1-ascl1 polyclonal Rabbit
  • IHC
Sigma-Aldrich
3
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Ensembl Gene Tree
Citations