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 | |
| Aliases | autoimmune regulator (autoimmune polyendocrinopathy candidiasis ectodermal dystrophy) |
| Synonyms | AIRE1, APECED, APS1, APSI, autoimmune regulator, PGA1 |
| Species | Mouse, Mus musculus |
| Orthologies |
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
phenotypes
- abnormal cholesterol homeostasis
- abnormal eye morphology
- decreased prepulse inhibition
- increased monocyte cell number
- inflammation
- CNS inflammation
- abnormal CD4-positive alpha-beta T cell physiology
- abnormal T cell activation
- abnormal T cell morphology
- abnormal T-helper 1 physiology
- abnormal T-helper 17 cell physiology
- abnormal adaptive immunity
- abnormal chemokine level
- abnormal cytokine level
- abnormal definitive hematopoiesis
- abnormal metallophilic macrophage morphology
- abnormal monocyte cell number
- abnormal myelopoiesis
- abnormal nervous system morphology
- abnormal regulatory T cell physiology
- abnormal salivary gland morphology
- abnormal sciatic nerve morphology
- abnormal spleen marginal zone morphology
- abnormal stomach mucosa morphology
- abnormal thymus medulla morphology
- abnormal thymus morphology
- abnormal thymus physiology
- absent Hassall's corpuscle
- absent adrenal gland
- autoimmune response
- cachexia
- chronic pancreas inflammation
- decreased body weight
- decreased dendritic cell number
- decreased follicular B cell number
- decreased regulatory T cell number
- decreased susceptibility to fungal infection
- decreased tear production
- demyelination
- enlarged spleen
- eye inflammation
- hindlimb paralysis
- increased B cell derived lymphoma incidence
- increased B cell number
- increased T cell number
- increased T cell proliferation
- increased autoantibody level
- increased dendritic cell number
- increased incidence of corneal inflammation
- increased inflammatory response
- increased interleukin-12 secretion
- increased interleukin-23 secretion
- increased interleukin-6 secretion
- increased marginal zone B cell number
- increased spleen weight
- increased susceptibility to autoimmune diabetes
- increased susceptibility to autoimmune disorder
- increased susceptibility to fungal infection
- increased tumor necrosis factor secretion
- infertility
- insulitis
- lacrimal gland inflammation
- limb grasping
- liver inflammation
- lung inflammation
- no abnormal phenotype detected
- ovary inflammation
- pancreas inflammation
- paralysis
- parotid gland inflammation
- premature death
- prostate gland inflammation
- reduced fertility
- reduced male fertility
- retinal degeneration
- salivary gland inflammation
- stomach inflammation
- sublingual gland inflammation
- submandibular gland inflammation
- thymus atrophy
- thyroid gland inflammation
- uveitis
- vitreous body inflammation
- weight loss
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