Gene

aaas

ID
ZDB-GENE-030912-4
Name
achalasia, adrenocortical insufficiency, alacrimia
Symbol
aaas Nomenclature History
Previous Names
  • zgc:85873
Type
protein_coding_gene
Location
Chr: 9 Mapping Details/Browsers
Description
Predicted to be involved in nucleocytoplasmic transport. Predicted to localize to nuclear pore. Human ortholog(s) of this gene implicated in achalasia and triple-A syndrome. Orthologous to human AAAS (aladin WD repeat nucleoporin).
Genome Resources
Note
None
Expression
All Expression Data
No data available
Cross-Species Comparison
High Throughput Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
No data available
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With aaas Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
triple-A syndrome Alliance Achalasia-addisonianism-alacrimia syndrome 231550
Associated With aaas Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Conserved_site IPR019775 WD40 repeat, conserved site
Domain IPR017986 WD40-repeat-containing domain
Homologous_superfamily IPR015943 WD40/YVTN repeat-like-containing domain superfamily
Homologous_superfamily IPR036322 WD40-repeat-containing domain superfamily
Repeat IPR001680 WD40 repeat
Domain Details Per Protein
Protein Length WD40 repeat WD40 repeat, conserved site WD40-repeat-containing domain WD40-repeat-containing domain superfamily WD40/YVTN repeat-like-containing domain superfamily
UniProtKB:Q6NW98 499
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