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AIRE Gene

protein-coding   GIFtS: 66
GCID: GC21P045705

Autoimmune Regulator

(Previous name: autoimmune regulator (autoimmune polyendocrinopathy candidiasis...)
(Previous symbol: APECED)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, 15RNAdb, and/or 11Nature:405,311-319 and CroW21)
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Aliases
Autoimmune Regulator1 2     Autoimmune Regulator (APECED Protein)11
APECED1 2 3 5     AIRE12
Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy Protein2 3     APSI2
APS12 5     PGA12
Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy1     APECED Protein3
Autoimmune Regulator (Autoimmune Polyendocrinopathy Candidiasis Ectodermal
Dystrophy)1
     

External Ids:    HGNC: 3601   Entrez Gene: 3262   Ensembl: ENSG000001602247   OMIM: 6073585   UniProtKB: O439183   

Export aliases for AIRE gene to outside databases

Previous GC identifers: GC21P042215 GC21P044563 GC21P044561 GC21P044530 GC21P031076


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for AIRE Gene:
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)

GeneCards Summary for AIRE Gene:
AIRE (autoimmune regulator) is a protein-coding gene. Diseases associated with AIRE include chronic mucocutaneous candidiasis, and metaphyseal dysplasia. GO annotations related to this gene include transcription regulatory region DNA binding and identical protein binding. An important paralog of this gene is TRIM33.

UniProtKB/Swiss-Prot: AIRE_HUMAN, O43918
Function: Transcriptional regulator that binds to DNA as a dimer or as a tetramer, but not as a monomer. Binds to
G-doublets in an A/T-rich environment; the preferred motif is a tandem repeat of 5'-. ATTGGTTA-3' combined with a
5'-TTATTA-3' box. Binds to nucleosomes (By similarity). Binds to chromatin and interacts selectively with histone
H3 that is not methylated at 'Lys-4', not phosphorylated at 'Thr-3' and not methylated at 'Arg-2'. Functions as a
sensor of histone H3 modifications that are important for the epigenetic regulation of gene expression. Functions
as a transcriptional activator and promotes the expression of otherwise tissue-specific self-antigens in the
thymus, which is important for self tolerance and the avoidance of autoimmune reactions

Gene Wiki entry for AIRE (Autoimmune regulator) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics, Whole Chromsome Sequence According to Nature (Cited Here with Permission):405,311-319 and CroW21)
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RefSeq DNA sequence:
NC_000021.9  NT_011512.12  NC_018932.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the AIRE gene promoter:
         AP-1   ATF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidAIRE promoter sequence

   Search Chromatin IP Primers for AIRE

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat AIRE


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 21q22.3   Ensembl cytogenetic band:  21q22.3   HGNC cytogenetic band: 21q22.3
Nature(405: 311-319) cytogenetic band:   21q22.3
AIRE Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
AIRE gene location
GeneLoc information about chromosome 21         GeneLoc Exon Structure

(about GC identifiers)
GC21P045705:   GeneLoc Nature:405,311-319
Start:
45,705,721 bp from pter       31,215,162 bp from centromere
End:
45,718,531 bp from pter 31,227,494 bp from centromere
Size:
12,811 bases 12,333 bases
Orientation:
plus strand plus strand

Whole chromosome sequencing:
cDNA sequence: Z97990
genomic clones: KUD4G11


(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: AIRE_HUMAN, O43918 (See protein sequence)
Recommended Name: Autoimmune regulator  
Size: 545 amino acids; 57727 Da
Subunit: Homodimer and homotetramer. Interacts with CREBBP. Interacts preferentially with histone H3 that is not
methylated at 'Lys-4'. Binds with lower affinity to histone H3 that is monomethylated at 'Lys-4'. Trimethylation
of histone H3 at 'Lys-4' or phosphorylation at 'Thr-3' abolish the interaction. Binds with lower affinity to
histone H3 that is acetylated at 'Lys-4', or that is acetylated at 'Lys-9' or trimethylated at 'Lys-9'. Binds
histone H3 that is dimethylated at 'Arg-2' with very low affinity
4 PDB 3D structures from and Proteopedia for AIRE:
1XWH (3D)        2KE1 (3D)        2KFT (3D)        2LRI (3D)    
Secondary accessions: B2RP50 O43922 O43932 O75745
Alternative splicing: 4 isoforms:  O43918-1   O43918-2   O43918-3   O43918-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for AIRE: NX_O43918

Explore proteomics data for AIRE at MOPED

Post-translational modifications: 

  • Phosphorylated. Phosphorylation could trigger oligomerization1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See AIRE Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_000374.1  
    ENSEMBL proteins: 
     ENSP00000291582   ENSP00000347505   ENSP00000331055  

    AIRE Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
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    OriGene Purified Protein for AIRE
    OriGene Protein Over-expression Lysate for AIRE
    OriGene Custom MassSpec
    OriGene Custom Protein Services for AIRE
    GenScript Custom Purified and Recombinant Proteins Services for AIRE
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for AIRE

    AIRE Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of AIRE
    R&D Systems Antibodies for AIRE (Autoimmune Regulator/AIRE)
    OriGene Antibodies for AIRE
    OriGene Custom Antibody Services for AIRE
    Novus Biologicals AIRE Antibodies
    Abcam antibodies for AIRE
    Cloud-Clone Corp. Antibodies for AIRE
    ThermoFisher Antibodies for AIRE
    LSBio Antibodies in human, mouse, rat for AIRE

    AIRE Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for AIRE
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for AIRE
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for AIRE
    Cloud-Clone Corp. CLIAs for AIRE


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    PHF: Zinc fingers, PHD-type

    Selected InterPro protein domains (see all 9):
     IPR001965 Znf_PHD
     IPR008087 AIRE
     IPR013083 Znf_RING/FYVE/PHD
     IPR019786 Zinc_finger_PHD-type_CS
     IPR010919 SAND_dom-like

    Graphical View of Domain Structure for InterPro Entry O43918

    ProtoNet protein and cluster: O43918

    5 Blocks protein domains:
    IPB000770 SAND domain
    IPB001965 Zn-finger-like
    IPB004865 Sp100 domain
    IPB008087 Autoimmune regulator (AIRE) signature
    IPB010919 SAND-like


    UniProtKB/Swiss-Prot: AIRE_HUMAN, O43918
    Domain: The L-X-X-L-L repeats may be implicated in binding to nuclear receptors
    Domain: The HSR domain is required for localization on tubular structures (N-terminal part) and for
    homodimerization
    Domain: Interacts via the first PHD domain with the N-terminus of histone H3 that is not methylated at 'Lys-4'.
    Disruption of the first PHD domain has been shown to lead to reduced transcriptional activity and to localization
    of the protein mainly in the cytoplasm in small granules. While the PHD zinc fingers are necessary for the
    transactivation capacity of the protein, other regions also modulate this function
    Similarity: Contains 1 HSR domain
    Similarity: Contains 2 PHD-type zinc fingers
    Similarity: Contains 1 SAND domain


    AIRE for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: AIRE_HUMAN, O43918
    Function: Transcriptional regulator that binds to DNA as a dimer or as a tetramer, but not as a monomer. Binds to
    G-doublets in an A/T-rich environment; the preferred motif is a tandem repeat of 5'-. ATTGGTTA-3' combined with a
    5'-TTATTA-3' box. Binds to nucleosomes (By similarity). Binds to chromatin and interacts selectively with histone
    H3 that is not methylated at 'Lys-4', not phosphorylated at 'Thr-3' and not methylated at 'Arg-2'. Functions as a
    sensor of histone H3 modifications that are important for the epigenetic regulation of gene expression. Functions
    as a transcriptional activator and promotes the expression of otherwise tissue-specific self-antigens in the
    thymus, which is important for self tolerance and the avoidance of autoimmune reactions

         Genatlas biochemistry entry for AIRE:
    autoimmune regulator gene with three alternatively spliced isoforms,expressed in immunological tissues,also
    expressed in the cytoplasm,located in nuclear bodies separated from the PML bodies and colocalizing with
    cytoskeletal filaments,may be involved in the regulation of gene expression

         Gene Ontology (GO): Selected molecular function terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding ----
    GO:0003682chromatin binding IDA18292755
    GO:0005515protein binding IPI17474147
    GO:0008270zinc ion binding IDA19446523
    GO:0042393histone binding IDA18292755
         
    AIRE for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for AIRE:
     Big cells 

         Selected MGI mutant phenotypes (inferred from 9 alleles(MGI details for Aire) (see all 17):
     behavior/neurological  cellular  digestive/alimentary  endocrine/exocrine gland  growth/size/body 
     hematopoietic system  homeostasis/metabolism  immune system  liver/biliary system  mortality/aging 
     nervous system  no phenotypic analysis  normal  reproductive system  respiratory system 

    AIRE for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for AIRE: Airetm1.1Doi Airetm1Ptsn Airetm1Pltn Airetm1Mmat

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for AIRE
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for AIRE

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for AIRE
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for AIRE

    miRNA
    Products:
        
    Block miRNA regulation of human, mouse, rat AIRE using miScript Target Protectors
    Search for qRT-PCR Assays for microRNAs that regulate AIRE
    SwitchGear 3'UTR luciferase reporter plasmidAIRE 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for AIRE
    Predesigned siRNA for gene silencing in human, mouse, rat AIRE

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for AIRE

    Clone
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    OriGene clones in human, mouse for AIRE (see all 11)
    OriGene ORF clones in mouse, rat for AIRE
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): AIRE (NM_000658)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for AIRE
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat AIRE

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for AIRE
    Browse ESI BIO Cell Lines and PureStem Progenitors for AIRE 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AIRE


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    AIRE_HUMAN, O43918: Nucleus. Cytoplasm. Note=Associated with tubular structures and in discrete nuclear dots
    resembling ND10 nuclear bodies. May shuttle between nucleus and cytoplasm
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytoskeleton4
    plasma membrane4
    cytosol3
    extracellular2
    chloroplast1
    mitochondrion1
    peroxisome1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----
    GO:0005634nucleus NAS9398840
    GO:0005737cytoplasm IEA--
    GO:0005886plasma membrane ----
    GO:0015629actin cytoskeleton ----

    AIRE for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for AIRE About    
    See pathways by source

    SuperPathContained pathways About
    1Class I MHC mediated antigen processing and presentation
    Ubiquitin mediated proteolysis0.35
    2Primary immunodeficiency
    Primary immunodeficiency

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    2 Kegg Pathways  (Kegg details for AIRE):
        Ubiquitin mediated proteolysis
    Primary immunodeficiency


    AIRE for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for AIRE
    Interactions:

        GeneGlobe Interaction Network for AIRE

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for AIRE (O439181, 2, 3 ENSP000002915824) via UniProtKB, MINT, STRING, and/or I2D (see all 87)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIST1H3CP684311, 2, 3EBI-1753081,EBI-79722 MINT-6542493 MINT-6542602 MINT-6542217 MINT-6542176 MINT-6542437 MINT-6542623 MINT-6542513 MINT-6542121 MINT-6542585 MINT-6542551 MINT-6542098 MINT-6542155 MINT-6542420 MINT-6542202 MINT-6542385 MINT-6542408 MINT-6542567 MINT-6542476 MINT-6542533 MINT-6542137 I2D: score=3 
    HIST1H3DP684311, 2, 3EBI-1753081,EBI-79722 MINT-6542493 MINT-6542602 MINT-6542217 MINT-6542176 MINT-6542437 MINT-6542623 MINT-6542513 MINT-6542121 MINT-6542585 MINT-6542551 MINT-6542098 MINT-6542155 MINT-6542420 MINT-6542202 MINT-6542385 MINT-6542408 MINT-6542567 MINT-6542476 MINT-6542533 MINT-6542137 I2D: score=3 
    HIST1H3EP684311, 2, 3EBI-1753081,EBI-79722 MINT-6542493 MINT-6542602 MINT-6542217 MINT-6542176 MINT-6542437 MINT-6542623 MINT-6542513 MINT-6542121 MINT-6542585 MINT-6542551 MINT-6542098 MINT-6542155 MINT-6542420 MINT-6542202 MINT-6542385 MINT-6542408 MINT-6542567 MINT-6542476 MINT-6542533 MINT-6542137 I2D: score=3 
    HIST1H3FP684311, 2, 3EBI-1753081,EBI-79722 MINT-6542493 MINT-6542602 MINT-6542217 MINT-6542176 MINT-6542437 MINT-6542623 MINT-6542513 MINT-6542121 MINT-6542585 MINT-6542551 MINT-6542098 MINT-6542155 MINT-6542420 MINT-6542202 MINT-6542385 MINT-6542408 MINT-6542567 MINT-6542476 MINT-6542533 MINT-6542137 I2D: score=3 
    HIST1H3GP684311, 2, 3EBI-1753081,EBI-79722 MINT-6542493 MINT-6542602 MINT-6542217 MINT-6542176 MINT-6542437 MINT-6542623 MINT-6542513 MINT-6542121 MINT-6542585 MINT-6542551 MINT-6542098 MINT-6542155 MINT-6542420 MINT-6542202 MINT-6542385 MINT-6542408 MINT-6542567 MINT-6542476 MINT-6542533 MINT-6542137 I2D: score=3 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006351transcription, DNA-templated IEA--
    GO:0006355regulation of transcription, DNA-templated IDA18292755
    GO:0006955immune response TAS9398840
    GO:0006959humoral immune response IEA--
    GO:0045893positive regulation of transcription, DNA-templated IDA18292755

    AIRE for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for AIRE

    5 Novoseek inferred chemical compound relationships for AIRE gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    zinc 34.4 15 9931335 (2), 9856486 (1), 9931333 (1), 11533054 (1) (see all 12)
    sb 203580 12.6 4 17179667 (1), 15894121 (1)
    cytosine 4.36 2 10946904 (1), 12651856 (1)
    tyrosine 0 3 11533054 (1), 19209622 (1)
    serine 0 3 11533054 (1), 12542742 (1)



    AIRE for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for AIRE gene (3 alternative transcripts): 
    NM_000383.3  NM_000658.2  NM_000659.1  

    Unigene Cluster for AIRE:

    Autoimmune regulator
    Hs.129829  [show with all ESTs]
    Unigene Representative Sequence: NM_000383
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000530812(uc002zei.2) ENST00000527919 ENST00000291582 ENST00000397994(uc010gpq.2 uc002zej.2 uc010gpr.2)
    ENST00000337909 ENST00000355347 ENST00000329347
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    GenScript: all cDNA clones in your preferred vector (see all 2): AIRE (NM_000658)
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      QuantiFast Probe-based Assays in human, mouse, rat AIRE

    Additional mRNA sequence: 

    AB006682.1 AB006683.1 BC137268.1 BC137270.1 Z97990.1 

    3 DOTS entries:

    DT.410658  DT.91753522  DT.121138413 

    13 AceView cDNA sequences:

    AB006682 AB006683 NM_000658 AB006685 NM_000659 Z97990 AW590531 BV184386 
    NM_000383 BX112453 BF508793 BE464150 AA742555 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for AIRE    About this scheme

    ExUns: 1 ^ 2a · 2b ^ 3a · 3b · 3c ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15
    SP1:                                -                                   -                                                   
    SP2:                                                                                                                        
    SP3:                                                                                                                        
    SP4:                                                                                                                        
    SP5:                                                                                                                        


    ECgene alternative splicing isoforms for AIRE

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    AIRE expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TAACCATTGC
    AIRE Expression
    About this image


    AIRE expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Epiblast (Early Embryonic Tissues)
             Epiblast Cells Epiblast
    AIRE Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    AIRE Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.129829

    UniProtKB/Swiss-Prot: AIRE_HUMAN, O43918
    Tissue specificity: Widely expressed. Expressed at higher level in thymus (medullary epithelial cells and
    monocyte-dendritic cells), pancreas, adrenal cortex and testis. Expressed at lower level in the spleen, fetal
    liver and lymph nodes. Isoform 2 and isoform 3 seem to be less frequently expressed than isoform 1, if at all

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for AIRE gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Aire1 , 5 autoimmune regulator (autoimmune polyendocrinopathy more1, 5 76.74(n)1
    72.43(a)1
      10 (39.72 cM)5
    116341  NM_001271549.11  NP_001258478.11 
     780300225 
    chicken
    (Gallus gallus)
    Aves AIRE6
    autoimmune regulator
    43(a)
    1 ↔ 1
    9(382665-385476) ENSGALG00000001327
    lizard
    (Anolis carolinensis)
    Reptilia AIRE6
    autoimmune regulator
    71(a)
    1 ↔ 1
    3(35476449-35476634)
    zebrafish
    (Danio rerio)
    Actinopterygii aire1 autoimmune regulator 50.69(n)
    38.96(a)
      100007662  NM_001110014.1  NP_001103484.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta bon6
    bonus
    8(a)
    1 ↔ 1
    3R(16418881-16438262)


    ENSEMBL Gene Tree for AIRE (if available)
    TreeFam Gene Tree for AIRE (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for AIRE gene
    TRIM332  TRIM662  TRIM242  TRIM282  
    Selected SIMAP similar genes for AIRE using alignment to 4 protein entries:     AIRE_HUMAN (see all proteins) (see all similar genes):
    CHD4    CHD5    BPTF    TRIM33    CHD3    TRIM66
    SP140    SP140L    PHF12    ZMYND8    SP110    MYST3
    WHSC1    NSD1    PHF21B    WHSC1L1    FLJ00340    DKFZp686E07254

    AIRE for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for AIRE (see all 580)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 21 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1793638801,2,,4
    CAutoimmune polyendocrine syndrome 1, with or without reversible metaphyseal dysplasia (APS1)4 untested145706539(+) ACTTCA/C/TGGAGG 2 R W mis10--------
    rs343976151,2,,4
    C,FAutoimmune polyendocrine syndrome 1, with or without reversible metaphyseal dysplasia (APS1)4 probable-non-pathogenic145709642(-) GCTTCG/AGGCCA 2 /P /L mis14Minor allele frequency- A:0.01NA WA 4324
    rs1506345621,2,,4
    C,FAutoimmune polyendocrine syndrome 1, with or without reversible metaphyseal dysplasia (APS1)4 --45710999(+) GTGCCG/ATGTGT 2 /M /V mis12Minor allele frequency- A:0.00NA EU 5615
    rs1793638851,2,,4
    CAutoimmune polyendocrine syndrome 1, with or without reversible metaphyseal dysplasia (APS1)4 untested145711075(+) CCCTCA/C/TGCTCC 3 Q P L mis10--------
    rs1793638881,2,4
    Autoimmune polyendocrine syndrome 1, with or without reversible metaphyseal dysplasia (APS1)4--see VAR_0264852 mis40--------
    VAR_0050054
    Autoimmune polyendocrine syndrome 1, with or without reversible metaphyseal dysplasia (APS1)4--see VAR_0050052 K E mis40--------
    VAR_0144224
    Autoimmune polyendocrine syndrome 1, with or without reversible metaphyseal dysplasia (APS1)4--see VAR_0144222 G W mis40--------
    VAR_0137234
    Autoimmune polyendocrine syndrome 1, with or without reversible metaphyseal dysplasia (APS1)4--see VAR_0137232 C Y mis40--------
    rs37469641,2
    C,F,A,Hnon-pathogenic145705988(+) CTGGCT/CGACCA 2 /A syn1 ese318Minor allele frequency- C:0.36NS EA NA CSA WA 2101
    rs1214342541,2
    Cpathogenic145709656(+) TGGTTC/TGAGCC 2 R * stg11Minor allele frequency- T:0.00EU 1001

    HapMap Linkage Disequilibrium report for AIRE (45705721 - 45718531 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for AIRE (see all 18):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2723638CNV Deletion23290073
    nsv509800CNV Insertion20534489
    dgv4769n71CNV Loss21882294
    dgv4773n71CNV Loss21882294
    dgv4772n71CNV Loss21882294
    dgv4770n71CNV Loss21882294
    nsv913915CNV Loss21882294
    nsv913902CNV Loss21882294
    dgv4774n71CNV Loss21882294
    dgv4771n71CNV Loss21882294

    Human Gene Mutation Database (HGMD): AIRE
    Locus Specific Mutation Databases (LSDB): AIRE

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 607358   
    OMIM disorders: 240300  
    UniProtKB/Swiss-Prot: AIRE_HUMAN, O43918
  • Autoimmune polyendocrine syndrome 1, with or without reversible metaphyseal dysplasia (APS1)
    [MIM:240300]: A rare disease characterized by the combination of chronic mucocutaneous candidiasis,
    hypoparathyroidism and Addison disease. Symptoms of mucocutaneous candidiasis manifest first, followed by
    hypotension or fatigue occurring as a result of Addison disease. APS1 is associated with other autoimmune
    disorders including diabetes mellitus, vitiligo, alopecia, hepatitis, pernicious anemia and primary
    hypothyroidism. Note=The disease is caused by mutations affecting the gene represented in this entry
  • Note=Most of the mutations alter the nucleus-cytoplasm distribution of AIRE and disturb its association
    with nuclear dots and cytoplasmic filaments. Most of the mutations also decrease transactivation of the protein.
    The HSR domain is responsible for the homomultimerization activity of AIRE. All the missense mutations of the HSR
    and the SAND domains decrease this activity, but those in other domains do not. The AIRE protein is present in
    soluble high-molecular-weight complexes. Mutations in the HSR domain and deletion of PHD zinc fingers disturb the
    formation of these complexes

  • Selected diseases for AIRE (see all 60):    
    About MalaCards
    chronic mucocutaneous candidiasis    metaphyseal dysplasia    autoimmune polyendocrine syndrome type 1    autoimmune polyendocrinopathy syndrome , type i, with or without reversible metaphyseal dysplasia
    candidiasis    alopecia areata    autoimmune polyendocrine syndrome    alopecia universalis
    parathyroid gland disease    addison's disease    eaf    progressive muscular atrophy
    chronic inflammatory demyelinating polyneuropathy    demyelinating polyneuropathy    hypothyroidism, autoimmune    panniculitis
    pernicious anemia    thymoma    alopecia    vitiligo

    7 diseases from the University of Copenhagen DISEASES database for AIRE:
    Candidiasis     Hypersensitivity reaction type II disease     Addison's disease     Parathyroid gland disease
    Alopecia     Omenn syndrome     Autosomal recessive disease

    AIRE for disorders           About GeneDecksing

    Selected Novoseek inferred disease relationships for AIRE gene (see all 35)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    apeced 99.1 241 9931333 (7), 10677297 (5), 15270412 (4), 9267805 (4) (see all 99)
    polyendocrinopathies autoimmune 97.8 41 15640689 (4), 16290093 (2), 12625412 (2), 11156688 (1) (see all 33)
    candidiasis chronic mucocutaneous 94.7 5 20407228 (2), 18728167 (1), 19209622 (1)
    hypoparathyroidism 89.4 9 20407228 (2), 16313305 (1), 18322283 (1), 9837820 (1) (see all 7)
    addisons disease 88.8 11 11298085 (2), 10920386 (1), 11916620 (1), 10634424 (1) (see all 8)
    candidiasis 87.3 26 15640689 (4), 12625412 (2), 11156688 (1), 14655274 (1) (see all 22)
    autoimmune diseases 79.4 45 15790357 (2), 9856486 (1), 16552513 (1), 19011376 (1) (see all 41)
    autoimmunity 78.4 27 16682278 (2), 12398240 (2), 16290093 (2), 16431348 (2) (see all 17)
    omenn syndrome 71.7 8 15696198 (3), 16682278 (1), 19414857 (1)
    hepatitis autoimmune 66.5 7 19322061 (3), 17891543 (1), 19209622 (1), 11343230 (1)

    Genetic Association Database (GAD): AIRE
    Human Genome Epidemiology (HuGE) Navigator: AIRE (20 documents)

    Export disorders for AIRE gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for AIRE gene, integrated from 10 sources (see all 234):
    (articles sorted by number of sources associating them with AIRE)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. AIRE mutations and human leukocyte antigen genotypes as determinants of the autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy phenotype. (PubMed id 12050215)1, 2, 4 Halonen M.... Partanen J. (J. Clin. Endocrinol. Metab. 2002)
    2. An autoimmune disease, APECED, caused by mutations in a novel gene featuring two PHD-type zinc-finger domains. (PubMed id 9398840)1, 2, 3 Aaltonen J.... Yaspo M.-L. (Nat. Genet. 1997)
    3. APECED-causing mutations in AIRE reveal the functional domains of the protein. (PubMed id 14974083)1, 2, 9 Halonen M.... Eskelin P. (Hum. Mutat. 2004)
    4. AIRE variations in Addison's disease and autoimmune polyendocrine syndromes (APS): partial gene deletions contribute to APS I. (PubMed id 18200029)1, 4, 9 BA...Knappskog P.M. (Genes Immun. 2008)
    5. Mutations in the AIRE gene: effects on subcellular location and transactivation function of the autoimmune polyendocrinopathy- candidiasis-ectodermal dystrophy protein. (PubMed id 10677297)1, 2, 9 Bjeorses P.... Peltonen L. (Am. J. Hum. Genet. 2000)
    6. Localization of the APECED protein in distinct nuclear structures. (PubMed id 9931333)1, 2, 9 Bjoerses P....Ulmanen I. (Hum. Mol. Genet. 1999)
    7. Association analysis of the AIRE and insulin genes in Finnish type 1 diabetic patients. (PubMed id 16552513)1, 4, 9 Turunen J.A....Groop P.H. (Immunogenetics 2006)
    8. Functional analysis of SAND mutations in AIRE supports dominant inheritance of the G228W mutation. (PubMed id 16114041)1, 2, 9 Ilmarinen T.... Ulmanen I. (Hum. Mutat. 2005)
    9. Role of the autoimmune regulator (AIRE) gene in alopecia areata: strong association of a potentially functional AIRE polymorphism with alopecia universalis. (PubMed id 12542742)1, 4, 9 Tazi-Ahnini R....Messenger A.G. (Tissue Antigens 2002)
    10. Subcellular localization of the autoimmune regulator protein. characterization of nuclear targeting and transcriptional activation domain. (PubMed id 11274163)1, 2, 9 Pitkaenen J.... Peterson P. (J. Biol. Chem. 2001)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 326 HGNC: 360 AceView: AIRE Ensembl:ENSG00000160224 euGenes: HUgn326
    ECgene: AIRE Kegg: 326 H-InvDB: AIRE

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for AIRE Pharmacogenomics, SNPs, Pathways
    AIREbasehttp://bioinf.uta.fi/AIREbase/
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=AIRE[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for AIRE gene:
    Search GeneIP for patents involving AIRE

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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