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    AIRE autoimmune regulator [ Homo sapiens (human) ]

    Gene ID: 326, updated on 22-Apr-2017
    Official Symbol
    AIREprovided by HGNC
    Official Full Name
    autoimmune regulatorprovided by HGNC
    Primary source
    HGNC:HGNC:360
    See related
    Ensembl:ENSG00000160224 MIM:607358; Vega:OTTHUMG00000086921
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    APS1; APSI; PGA1; AIRE1; APECED
    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]
    Orthologs
    Location:
    21q22.3
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 21 NC_000021.9 (44285838..44298219)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (45705721..45718102)

    Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene inducible T-cell costimulator ligand Neighboring gene uncharacterized LOC105372833 Neighboring gene DNA methyltransferase 3 like Neighboring gene phosphofructokinase, liver type Neighboring gene chromosome 21 open reading frame 2

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Polyglandular autoimmune syndrome, type 1
    MedGen: C0085859 OMIM: 240300 GeneReviews: Not available
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    NHGRI GWAS Catalog

    Description
    The human AIRE gene at chromosome 21q22 is a genetic determinant for the predisposition to rheumatoid arthritis in Japanese population.
    NHGRI GWA Catalog
    • Primary immunodeficiency, organism-specific biosystem (from KEGG)
      Primary immunodeficiency, organism-specific biosystemPrimary immunodeficiencies (PIs) are a heterogeneous group of disorders, which affect cellular and humoral immunity or non-specific host defense mechanisms mediated by complement proteins, and cells ...
    • Primary immunodeficiency, conserved biosystem (from KEGG)
      Primary immunodeficiency, conserved biosystemPrimary immunodeficiencies (PIs) are a heterogeneous group of disorders, which affect cellular and humoral immunity or non-specific host defense mechanisms mediated by complement proteins, and cells ...
    • Ubiquitin mediated proteolysis, organism-specific biosystem (from KEGG)
      Ubiquitin mediated proteolysis, organism-specific biosystemProtein ubiquitination plays an important role in eukaryotic cellular processes. It mainly functions as a signal for 26S proteasome dependent protein degradation. The addition of ubiquitin to protein...
    • Ubiquitin mediated proteolysis, conserved biosystem (from KEGG)
      Ubiquitin mediated proteolysis, conserved biosystemProtein ubiquitination plays an important role in eukaryotic cellular processes. It mainly functions as a signal for 26S proteasome dependent protein degradation. The addition of ubiquitin to protein...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    RNA polymerase II regulatory region sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    chromatin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    histone binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    identical protein binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    transcription cofactor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    transcription regulatory region DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding IC
    Inferred by Curator
    more info
     
    translation regulator activity IEA
    Inferred from Electronic Annotation
    more info
     
    zinc ion binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    central tolerance induction to self antigen IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    chemokine production ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    humoral immune response IEA
    Inferred from Electronic Annotation
    more info
     
    immune response TAS
    Traceable Author Statement
    more info
    PubMed 
    negative thymic T cell selection IEA
    Inferred from Electronic Annotation
    more info
     
    peripheral T cell tolerance induction ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of transcription from RNA polymerase II promoter IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of transcription, DNA-templated IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of transcription, DNA-templated IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of thymocyte migration ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    regulation of transcription, DNA-templated IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of translation IEA
    Inferred from Electronic Annotation
    more info
     
    thymus epithelium morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    transcription from RNA polymerase II promoter IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    nuclear body ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    nucleus NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Preferred Names
    autoimmune regulator
    Names
    autoimmune polyendocrinopathy candidiasis ectodermal dystrophy protein

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_009556.1 RefSeqGene

      Range
      4959..17348
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_18

    mRNA and Protein(s)

    1. NM_000383.3NP_000374.1  autoimmune regulator

      See identical proteins and their annotated locations for NP_000374.1

      Status: REVIEWED

      Source sequence(s)
      AB006682, BC142608
      Consensus CDS
      CCDS13706.1
      UniProtKB/Swiss-Prot
      O43918
      Related
      ENSP00000291582.5, OTTHUMP00000109528, ENST00000291582.5, OTTHUMT00000195842
      Conserved Domains (5) summary
      cd15539
      Location:298340
      PHD1_AIRE; PHD finger 1 found in autoimmune regulator (AIRE)
      cd15540
      Location:433475
      PHD2_AIRE; PHD finger 2 found in autoimmune regulator (AIRE)
      pfam02479
      Location:332375
      Herpes_IE68; Herpesvirus immediate early protein
      pfam03172
      Location:16102
      Sp100; Sp100 domain
      cl02536
      Location:197250
      SAND; SAND domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000021.9 Reference GRCh38.p7 Primary Assembly

      Range
      44285838..44298219
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018932.2 Alternate CHM1_1.1

      Range
      45266544..45278925
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_000658.2: Suppressed sequence

      Description
      NM_000658.2: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
    2. NM_000659.1: Suppressed sequence

      Description
      NM_000659.1: This RefSeq was suppressed because it is a nonsense-mediated decay (NMD) candidate.
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