Aaas Gene Summary [Mouse]

Acts upstream of or within several processes, including glutathione metabolic process; learning; and response to oxidative stress. Predicted to be located in cytosol; microtubule cytoskeleton; and nucleus. Predicted to be part of nuclear pore. Human ortholog(s) of this gene implicated in achalasia and triple-A syndrome. Orthologous to human AAAS (aladin WD repeat nucleoporin). [provided by Alliance of Genome Resources, Jul 2025]

Details

Type
Retained Intron
Official Symbol
Aaas
Official Name
achalasia, adrenocortical insufficiency, alacrimia [Source:MGI Symbol;Acc:MGI:2443767]
Ensembl ID
ENSMUSG00000036678
Bio databases IDs NCBI: 223921 Ensembl: ENSMUSG00000036678
Aliases achalasia, adrenocortical insufficiency, alacrimia
Synonyms AAA, AAASb, achalasia, adrenocortical insufficiency, alacrimia, ADRACALA, ADRACALIN, ALADIN, aladin WD repeat nucleoporin, D030041N15RIK, GL003
Species
Mouse, Mus musculus
OrthologiesHumanRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in mouse Aaas often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • WD40 repeats
  • WD domain, G-beta repeat
  • WD40
  • protein binding

Pathways

Biological processes and signaling networks where the Aaas gene in mouse plays a role, providing insight into its function and relevance in health or disease.

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • achalasia-alacrima syndrome
  • hereditary disorder
  • neurodevelopmental disorder
  • triple-A syndrome
regulated by
  • calcitriol
regulates
role in cell
  • formation
  • apoptosis
  • fertilization
  • assembly
  • positioning
  • positioning in
  • metaphase I
  • assembly in
  • extrusion

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Nucleus
  • interchromatin granule cluster fractions
  • centrosome
  • cytosol
  • nuclear pores
  • inner nuclear membrane
  • nucleoplasm
  • nuclear rim
  • spindle pole
  • nuclear envelope
  • mitotic spindle
  • detergent-soluble fraction

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the mouse Aaas gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • nucleocytoplasmic transport
  • microtubule bundle formation
  • protein transport
  • fertilization
  • learning
  • regulation of nucleocytoplasmic transport
  • mRNA transport
  • spindle assembly involved in mitosis

Cellular Component

Where in the cell the gene product is active
  • nuclear envelope
  • nucleus
  • centrosome
  • nuclear membrane
  • mitotic spindle
  • membrane
  • spindle pole
  • cytosol
  • nuclear pore
  • nucleoplasm

Molecular Function

What the gene product does at the molecular level
  • protein binding

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.