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 Wednesday, January 23, 2013.)

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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]

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Summary text based on GO annotations supported by experimental evidence in mouse

• Researchers have inferred from direct assay, that the gene product of Aire
  • participates in the following biological processes:
    • positive regulation of transcription from RNA polymerase II promoter ^[2]
  • is located in the following cellular components:
    • cytoplasm ^[1]
    • intracellular part ^[2]
    • nucleus ^{[1, 4]}
• Researchers have inferred, based on physical interactions, that the gene product of Aire
  • performs the following molecular functions:
    • identical protein binding ^[3]
• Researchers have inferred, based on phenotypic analysis of mouse mutants, that the gene product of Aire
  • participates in the following biological processes:
    • humoral immune response ^[4]
    • positive regulation of transcription from RNA polymerase II promoter ^[2]

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Summary text based on GO annotations supported by experimental evidence in other organisms

• From comparative sequence analysis (see table for details), MGI curators have determined that the gene product of Aire:
  • participates in the following biological processes:
    • positive regulation of transcription, DNA-dependent
    • regulation of transcription, DNA-dependent
  • performs the following molecular functions:
    • chromatin binding
    • histone binding
    • transcription regulatory region DNA binding
    • zinc ion binding
  • is located in the following cellular components:
    • actin cytoskeleton
    • cytoplasm
    • nucleus
    • plasma membrane

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Summary text based on GO annotations supported by structural data

• Aire encodes a protein or proteins that contain the following InterPro domains: Autoimmune regulator, AIRE, SAND domain, SAND domain-like, Sp100, Zinc finger, FYVE/PHD-type, Zinc finger, PHD-finger, Zinc finger, PHD-type, Zinc finger, PHD-type, conserved site, Zinc finger, RING-type, Zinc finger, RING/FYVE/PHD-type, indicating that the gene product:
  • performs the following molecular functions:
    • DNA binding
    • translation regulator activity

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Summary text for additional MGI annotations

• Automated translation to GO terms of SwissProt keywords that describe Aire indicates that it:
  • participates in the following biological processes:
    • transcription, DNA-dependent
  • performs the following molecular functions:
    • DNA binding
    • metal ion binding

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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

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