Version 5.4
Mus musculus Gene: Aire
Summary
InnateDB Gene IDBG-168233.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol Aire
Gene Name autoimmune regulator (autoimmune polyendocrinopathy candidiasis ectodermal dystrophy)
Synonyms
Species Mus musculus
Ensembl Gene ENSMUSG00000000731
Encoded Proteins
IDBP-168235
autoimmune regulator (autoimmune polyendocrinopathy candidiasis ectodermal dystrophy)
IDBP-270968
autoimmune regulator (autoimmune polyendocrinopathy candidiasis ectodermal dystrophy)
IDBP-270970
autoimmune regulator (autoimmune polyendocrinopathy candidiasis ectodermal dystrophy)
IDBP-533992
autoimmune regulator (autoimmune polyendocrinopathy candidiasis ectodermal dystrophy)
IDBP-533161
autoimmune regulator (autoimmune polyendocrinopathy candidiasis ectodermal dystrophy)
IDBP-531949
autoimmune regulator (autoimmune polyendocrinopathy candidiasis ectodermal dystrophy)
IDBP-531493
autoimmune regulator (autoimmune polyendocrinopathy candidiasis ectodermal dystrophy)
IDBP-534970
autoimmune regulator (autoimmune polyendocrinopathy candidiasis ectodermal dystrophy)
IDBP-540681
autoimmune regulator (autoimmune polyendocrinopathy candidiasis ectodermal dystrophy)
IDBP-541422
autoimmune regulator (autoimmune polyendocrinopathy candidiasis ectodermal dystrophy)
IDBP-538887
autoimmune regulator (autoimmune polyendocrinopathy candidiasis ectodermal dystrophy)
IDBP-540591
autoimmune regulator (autoimmune polyendocrinopathy candidiasis ectodermal dystrophy)
IDBP-541421
autoimmune regulator (autoimmune polyendocrinopathy candidiasis ectodermal dystrophy)
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
InnateDB Annotation
Summary
PMID 21628060
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.
PMID 21962774
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)
InnateDB Annotation from Orthologs
Summary
PMID 21628060
[Homo sapiens] 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)
PMID 21962774
[Homo sapiens] 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.
Entrez Gene
Summary This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000160224:
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 10:78030022-78043610
Strand Reverse strand
Band C1
Transcripts
ENSMUST00000019257 ENSMUSP00000019257
ENSMUST00000105396 ENSMUSP00000101035
ENSMUST00000105395 ENSMUSP00000101034
ENSMUST00000145975 ENSMUSP00000120150
ENSMUST00000130972 ENSMUSP00000122659
ENSMUST00000128241 ENSMUSP00000114904
ENSMUST00000131028 ENSMUSP00000114808
ENSMUST00000143548
ENSMUST00000156417 ENSMUSP00000115162
ENSMUST00000155021 ENSMUSP00000122190
ENSMUST00000140636 ENSMUSP00000121477
ENSMUST00000148469 ENSMUSP00000118317
ENSMUST00000154374 ENSMUSP00000117094
ENSMUST00000143735 ENSMUSP00000123678
ENSMUST00000143452
ENSMUST00000141255
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 9 experimentally validated interaction(s) in this database.
They are also associated with 54 interaction(s) predicted by orthology.
Experimentally validated
Total 9 [view]
Protein-Protein 3 [view]
Protein-DNA 6 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 54 [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: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
GO:0005886 plasma membrane
GO:0015629 actin cytoskeleton
Orthologs
Species
Homo sapiens
Bos taurus
Gene ID
Gene Order
ENSG00000160224
View Gene Order
ENSBTAG00000023393
Not yet available
Pathways
NETPATH
REACTOME
KEGG
mmu04120
Ubiquitin mediated proteolysis pathway
mmu05340
Primary immunodeficiency pathway
INOH
PID NCI
Pathway Predictions based on Human Orthology Data
NETPATH
REACTOME
KEGG
hsa04120
Ubiquitin mediated proteolysis pathway
hsa05340
Primary immunodeficiency pathway
INOH
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Mm.35300
RefSeq NM_001271549 NM_001271550 NM_001271551 NM_001271552 NM_001271553 NM_001271554 NM_001271555 NM_001271556 NM_001271557 NM_001271558 NM_001271559 NM_009646 XM_006513103
OMIM
CCDS CCDS23961 CCDS70051 CCDS70052 CCDS70053 CCDS70054 CCDS70055 CCDS70056 CCDS70057 CCDS70058 CCDS70059 CCDS70060
HPRD
IMGT
MGI ID
MGI Symbol
EMBL
GenPept
RNA Seq Atlas

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca