The function of the protein encoded by the AIRE gene is not well defined. However it contains zinc finger motifs suggestive of a transcription factor. The protein (isoform 1) is localized to both the nucleus and cytoplasm. Defects in this gene cause the autosomal-recessive systemic autoimmune disease termed autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED).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).
Alias Symbols: AIRE1, APECED, APS1, APSI, PGA1
Protein Interaction Partner: TUBB, RAVER1, TUBA1C, TMPRSS13, CCDC87, FAT1, GIGYF2, SRRM2, TUBB4B, EIF4EBP3, UBB, HSP90AB1, HSPA8, HSPA5, HSPA1L, HSPA1A, ATP4A, HIST3H3, HDAC2, HDAC1, DAXX, AIRE, UBAC1, HIST1H3A, HIST2H2BE, HSPA4, SRSF1, SMC1A, XPO1, TOP2A, SSRP1, SNRPD3, SNRPB, SRSF3
Protein Size: 545