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

Gene Tree: Aire

Human homologs

Human Homolog		AIRE, autoimmune regulator
NCBI Gene ID		326
neXtProt AC		NX_O43918
Human Synonyms		AIRE1, APECED, APS1, APSI, PGA1
Human Chr (Location)		21q22.3; chr21:45705721-45718102 (+)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human AIRE

Alleles and phenotypes

All alleles(22) : Targeted(12) Gene trapped(10)
 

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 Using Mouse Aire (3)    Alleles Annotated to Human Diseases(4)    Phenotype Images(1)

Gene Ontology (GO) classifications

All GO classifications: (22 annotations)

Process	humoral immune response, positive regulation of transcription, DNA-dependent, ...
Component	actin cytoskeleton, cytoplasm, ...
Function	chromatin binding, DNA binding, ...

External Resources: FuncBase

Expression

Literature Summary: (23 records)
Data Summary: Results (313)    Tissues (205)    Images (22)
Theiler Stages: 2, 3, 4, 5, 9, 10, 11, 12, 13, 15, 17, 20, 21, 22, 23, 24, 25, 26, 28

Assay Type	Results
Immunohistochemistry	3
RNA in situ	245
Northern blot	9
RT-PCR	56

cDNA source data(12)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(36) Genomic(13) cDNA(14) Primer pair(8) 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
International Mouse Knockout Project Status	Aire

Sequences

Length	Strain/Species
genomic	OTTMUSG00000034126	VEGA Gene Model | MGI Sequence Detail	13589	C57BL/6J
transcript	OTTMUST00000086350	VEGA | MGI Sequence Detail	1938	Not Applicable
polypeptide	OTTMUSP00000046748	VEGA | MGI Sequence Detail	552	Not Applicable

All sequences(132) RefSeq(25) UniProt(7)

Polymorphisms

PCR(1) : SNPs(128 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR008087	Autoimmune regulator, AIRE
InterPro	IPR000770	SAND domain
InterPro	IPR010919	SAND domain-like
InterPro	IPR004865	Sp100
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:194890 Zeng XL, et al., Divergent effects of T cell costimulation and inflammatory cytokine production on autoimmune peripheral neuropathy provoked by aire deficiency. J Immunol. 2013 Apr 15;190(8):3895-904
All references(139)