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Description for Protein AIRE

autoimmune regulator
43 total interacting proteins; 16 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
This gene encodes a transcriptional regulator that forms nuclear bodies and interacts with the transcriptional coactivator CBP. At least three splice variant mRNAs products have been described including one which results in a premature stop codon and a transcript predicted to be a candidate for nuclear-mediated decay (NMD). Defects in this gene cause the rare autosomal-recessive systemic autoimmune disease termed autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED). [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • SPECTRIN: Spectrin repeat
  • SAND: SAND domain
  • PHD: PHD zinc finger
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    K10603
    KEGG - Pathway(s):
    hsa04120; hsa05340
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy protein; APECED; APSI; PGA1; AIRE1; APECED protein; Autoimmune regulator AIRE; Autoimmune regulator AIRE isoform 2; Autoimmune regulator AIRE isoform 1
    Approved Symbol:
    AIRE
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 2
    Human (de-) phosphorylation sites: 2; No platelet phosphorylation sites
    Phosphorylation Targets:
    Total phosphorylation targets: 0
    Human phosphorylation targets: 0;Predicted platelet targets: 0
    		Protein Characteristics:
    Isoform-specific Information
    Icon DrugsAssociated Drugs (DrugBank Accession):

    None Available

    Associated Genetic Diseases:

  • Autoimmune polyendocrinopathy syndrome, type I(Pd);
  • Autoimmune polyendocrinopathy syndrome, type I, autosomal dominant(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 3 : 0
  • Isoform 2 : 0
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 06301 Entrez Gene ID: 326 OMIM ID: 607358 Swissprot Accession: O43918; B2RP50;