Homo sapiens Gene: AIRE
Summary
InnateDB Gene IDBG-5152.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol AIRE
Gene Name autoimmune regulator
Synonyms AIRE1; APECED; APS1; APSI; PGA1;
Species Homo sapiens
Ensembl Gene ENSG00000160224
Encoded Proteins
autoimmune regulator
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
InnateDB Annotation
Summary
AIRE transcriptionally upregulates TLR1/3/8 via direct interaction with the TLR promoters. In addition, AIRE also mediates the induction of IL1A, TNF, NOS2 and IFN-alpha expression upon TLR1 and TLR3 stimulation. (Demonstrated in murine model)
AIRE participates in Dectin-1 signalling, an anticandidal innate immune signalling pathway that specifically recognizes fungal beta-glucan. AIRE formes a transient complex with the known Dectin-1 pathway components phosphorylated SYK and CARD9 after receptor ligation and localizes with CLEC7A (Dectin-1) at the cell membrane.
InnateDB Annotation from Orthologs
Summary
[Mus musculus] Aire transcriptionally upregulates Tlr1/3/8 via direct interaction with the TLR promoters. In addition, Aire also mediates the induction of Il1a, Tnf, Nos2 and IFN-alpha expression upon Tlr1 and Tlr3 stimulation.
[Mus musculus] Aire participates in Dectin-1 signalling, an anticandidal innate immune signalling pathway that specifically recognizes fungal beta-glucan. Aire formes a transient complex with the known Dectin-1 pathway components phosphorylated Sykb and Card9 after receptor ligation and localizes with Clec7a (Dectin-1) at the cell membrane (Demonstrated in human)
Entrez Gene
Summary This gene encodes a transcriptional regulator that forms nuclear bodies and interacts with the transcriptional coactivator CREB binding protein. The encoded protein plays an important role in immunity by regulating the expression of autoantigens and negative selection of autoreactive T-cells in the thymus. Mutations in this gene cause the rare autosomal-recessive systemic autoimmune disease termed autoimmune polyendocrinopathy with candidiasis and ectodermal dystrophy (APECED). [provided by RefSeq, Jun 2012]
Gene Information
Type Protein coding
Genomic Location Chromosome 21:44285838-44298648
Strand Forward strand
Band q22.3
Transcripts
ENST00000291582 ENSP00000291582
ENST00000337909
ENST00000397994
ENST00000530812
ENST00000527919
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 80 experimentally validated interaction(s) in this database.
They are also associated with 3 interaction(s) predicted by orthology.
Experimentally validated
Total 80 [view]
Protein-Protein 80 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 3 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0003677 DNA binding
GO:0003682 chromatin binding
GO:0005515 protein binding
GO:0008270 zinc ion binding
GO:0042393 histone binding
GO:0042802 identical protein binding
GO:0044212 transcription regulatory region DNA binding
GO:0045182 translation regulator activity
Biological Process
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006417 regulation of translation
GO:0006955 immune response
GO:0006959 humoral immune response
GO:0045087 innate immune response (InnateDB)
GO:0045893 positive regulation of transcription, DNA-templated
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
Cellular Component
GO:0005622 intracellular
GO:0005634 nucleus
GO:0005737 cytoplasm
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
KEGG
Ubiquitin mediated proteolysis pathway
Primary immunodeficiency pathway
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.129829
RefSeq NM_000383
HUGO
OMIM
CCDS CCDS13706
HPRD 06301
IMGT
EMBL
GenPept
RNA Seq Atlas