Aire Gene Summary [Mouse]

Enables identical protein binding activity. Involved in immune system development; positive regulation of chemokine production; and regulation of thymocyte migration. Acts upstream of or within humoral immune response; negative thymic T cell selection; and positive regulation of transcription by RNA polymerase II. Located in cytoplasm; germ cell nucleus; and nuclear body. Is expressed in several structures, including alimentary system; genitourinary system; hemolymphoid system; nervous system; and sensory organ. Used to study Guillain-Barre syndrome; Sjogren's syndrome; and autoimmune polyendocrine syndrome type 1. Human ortholog(s) of this gene implicated in autoimmune polyendocrine syndrome and autoimmune polyendocrine syndrome type 1. Orthologous to human AIRE (autoimmune regulator). [provided by Alliance of Genome Resources, Jul 2025]

Details

Type
Protein Coding
Official Symbol
Aire
Official Name
autoimmune regulator (autoimmune polyendocrinopathy candidiasis ectodermal dystrophy) [Source:MGI Symbol;Acc:MGI:1338803]
Ensembl ID
ENSMUSG00000000731
Bio databases IDs NCBI: 11634 Ensembl: ENSMUSG00000000731
Aliases autoimmune regulator (autoimmune polyendocrinopathy candidiasis ectodermal dystrophy)
Synonyms AIRE1, APECED, APS1, APSI, autoimmune regulator, PGA1
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 Aire often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • PHD zinc finger
  • histone binding
  • transcription regulator
  • nucleic acid binding
  • chromatin binding
  • protein binding
  • sequence-specific DNA binding
  • identical protein binding
  • HSR domain
  • zinc ion binding
  • double-stranded DNA binding
  • PHD finger superfamily
  • SAND domain

Pathways

Biological processes and signaling networks where the Aire 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
  • cancer
  • polyglandular autoimmune syndrome type 1
  • insulin-dependent diabetes mellitus
  • neuropathy
  • autoimmune disease
  • rheumatoid arthritis
  • lymphomagenesis
  • hematologic cancer
  • lymphoid cancer
  • hematological neoplasia
regulated by
regulates
role in cell
  • expression in
  • production in
  • apoptosis
  • proliferation
  • quantity
  • number
  • function
  • binding in
  • migration
  • abnormal morphology

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
  • Cytoplasm
  • intracellular space
  • microtubules
  • granules
  • nuclear foci
  • nucleoplasm
  • nuclear bodies
  • nuclear matrix

Gene Ontology Annotations

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

Biological Process

Functions and activities the gene product is involved in
  • transcription from RNA polymerase II promoter
  • regulation of transcription, DNA-dependent
  • positive regulation of transcription from RNA polymerase II promoter
  • regulation of translation
  • immune response
  • peripheral T cell tolerance induction
  • positive regulation of transcription, DNA-dependent
  • humoral immune response
  • regulation of thymocyte migration
  • central tolerance induction to self antigen
  • positive regulation of chemokine production
  • negative thymic T cell selection

Cellular Component

Where in the cell the gene product is active
  • female germ cell nucleus
  • nucleus
  • nuclear body
  • cytoplasm
  • male germ cell nucleus

Molecular Function

What the gene product does at the molecular level
  • translation regulator activity
  • zinc ion binding
  • identical protein binding
  • protein binding
  • histone binding
  • RNA polymerase II regulatory region sequence-specific DNA binding
  • chromatin binding

Gene-Specific Assays for Results You Can Trust

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