About   Help   FAQ
Aire
Gene Detail
Symbol

Name
ID
Aire
autoimmune regulator (autoimmune polyendocrinopathy candidiasis ectodermal dystrophy)
MGI:1338803
Feature Type
protein coding gene
Genetic Map
Chromosome 10
39.72 cM
Detailed Genetic Map ± 1 cM


Mapping data(7)
Sequence Map
Chr10:78030022-78043610 bp, - strand
From VEGA annotation of GRCm38

  13589 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:327  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 zebrafish

HCOP human homology predictions: AIRE
Gene Tree: Aire

Human
homologs
AIRE, autoimmune regulator
Orthology source: HGNC, HomoloGene

IDs:
NCBI Gene ID: 326
neXtProt AC: NX_O43918

Human Synonyms: AIRE1, APECED, APS1, APSI, PGA1

Human Chr (Location): 21q22.3; chr21:44285838-44298219 (+)  GRCh38.p2

Disease Associations: (1) Diseases Associated with Human AIRE

Mutations,
alleles, and
phenotypes
All mutations/alleles(25) : Gene trapped(10) Targeted(15)
Genomic Mutations involving Aire (3)
Incidental mutations (data from Mutagenetix , APF , CvDC )
 
Targeted mutations that inactivate the gene result in immune system dysfunction characterized by multiorgan lymphocytic infiltration and circulating autoantibodies. Whereas one line is fertile, another exhibits male and female sterility.
 
Human Diseases Modeled in Mice Using Aire (3)    Mutations Annotated to Human Diseases (5)    Phenotype Images(1)
Interactions
Aire interacts with 191 markers (Mir7-1, Mir7-2, Mir7b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (24 annotations)
Process humoral immune response, positive regulation of transcription, DNA-templated, ...
Component cytoplasm, intracellular, ...
Function chromatin binding, DNA binding, ...
External Resources: FuncBase
Expression
Literature Summary: (24 records)
Data Summary: Results (318)    Tissues (201)    Images (22)    Tissue x Stage Matrix (view)
Assay TypeResults
Immunohistochemistry 5
RNA in situ 245
Northern blot 9
RT-PCR 59
cDNA source data(12)
Other mouse links: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(37) Genomic(13) cDNA(14) Primer pair(9) Other(1)
Microarray probesets(3)
Other database
links
VEGA Gene Model OTTMUSG00000034126 (Evidence)
Ensembl Gene Model ENSMUSG00000000731 (Evidence)
Entrez Gene 11634 (Evidence)
UniGene 35300
DFCI TC1587974, TC1594826, TC1596130, TC1596530, TC1596589, TC1596652
DoTS DT.101310619, DT.110596681, DT.484103, DT.55263294, DT.87051928, DT.87051929
NIA Mouse Gene Index U031966
Consensus CDS Project CCDS23961.1, CCDS70051.1, CCDS70052.1, CCDS70053.1, CCDS70054.1, CCDS70055.1, CCDS70056.1, CCDS70057.1, CCDS70058.1, CCDS70059.1, CCDS70060.1
International Mouse Phenotyping Consortium Status Aire
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000034126 VEGA Gene Model | MGI Sequence Detail 13589 C57BL/6J ±  kb
transcript OTTMUST00000086350 VEGA | MGI Sequence Detail 1938 Not Applicable 
polypeptide OTTMUSP00000046748 VEGA | MGI Sequence Detail 552 Not Applicable 

For the selected sequences
All sequences(134) RefSeq(27) UniProt(7)
Polymorphisms
PCR(1) : SNPs within 2kb(139 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR008087 Autoimmune regulator, AIRE
InterPro IPR004865 Homogeneously-staining region
InterPro IPR000770 SAND domain
InterPro IPR010919 SAND domain-like
InterPro IPR011011 Zinc finger, FYVE/PHD-type
InterPro IPR019787 Zinc finger, PHD-finger
InterPro IPR001965 Zinc finger, PHD-type
InterPro IPR019786 Zinc finger, PHD-type, conserved site
InterPro IPR013083 Zinc finger, RING/FYVE/PHD-type
InterPro IPR001841 Zinc finger, RING-type
Protein Ontology PR:000001323 autoimmune regulator
References
(Earliest) J:53032 Mittaz L, et al., Isolation and characterization of the mouse Aire gene. Biochem Biophys Res Commun. 1999 Feb 16;255(2):483-90
(Latest) J:221494 Yang S, et al., Immune tolerance. Regulatory T cells generated early in life play a distinct role in maintaining self-tolerance. Science. 2015 May 1;348(6234):589-94
All references(157)
Disease annotation references (11)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
08/25/2015
MGI 6.0
The Jackson Laboratory