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Gene Ontology Classifications
Symbol
Name
ID
Aire
autoimmune regulator (autoimmune polyendocrinopathy candidiasis ectodermal dystrophy)
MGI:1338803

Go Annotations as Summary Text (Tabular View) (GO Graph)

GO curators for mouse genes have assigned the following annotations to the gene product of Aire. (This text reflects annotations as of Thursday, January 16, 2014.)
Summary from NCBI RefSeq


[Summary is not available for the mouse gene. This summary is for the human ortholog.] 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]
Summary text based on GO annotations supported by experimental evidence in mouse
Summary text based on GO annotations supported by experimental evidence in other organisms
Summary text based on GO annotations supported by structural data
Summary text for additional MGI annotations
References
  1. Halonen M et al. (2001) Subcellular location and expression pattern of autoimmune regulator (Aire), the mouse orthologue for human gene defective in autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED). J Histochem Cytochem, 49:197-208. (PubMed:11156688)
  2. Kont V et al. (2008) Modulation of Aire regulates the expression of tissue-restricted antigens. Mol Immunol, 45:25-33. (PubMed:17599412)
  3. Kumar PG et al. (2001) The autoimmune regulator (AIRE) is a DNA-binding protein. J Biol Chem, 276:41357-64. (PubMed:11533054)
  4. Ramsey C et al. (2002) Aire deficient mice develop multiple features of APECED phenotype and show altered immune response. Hum Mol Genet, 11:397-409. (PubMed:11854172)



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Gene Ontology Evidence Code Abbreviations:

  EXP Inferred from experiment
  IC Inferred by curator
  IDA Inferred from direct assay
  IEA Inferred from electronic annotation
  IGI Inferred from genetic interaction
  IMP Inferred from mutant phenotype
  IPI Inferred from physical interaction
  ISS Inferred from sequence or structural similarity
  ISO Inferred from sequence orthology
  ISA Inferred from sequence alignment
  ISM Inferred from sequence model
  NAS Non-traceable author statement
  ND No biological data available
  RCA Reviewed computational analysis
  TAS Traceable author statement


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
04/08/2014
MGI 5.17
The Jackson Laboratory