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

Comparative Information

Expression

All Expression Data

3 figures from 2 publications

Cross-Species Comparison

High Throughput Data

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Thisse Expression Data

IMAGE:6907703 (1 image)

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
Family	IPR045139	Aladin
Homologous_superfamily	IPR015943	WD40/YVTN repeat-like-containing domain superfamily
Homologous_superfamily	IPR036322	WD40-repeat-containing domain superfamily
Repeat	IPR001680	WD40 repeat