AIRE

Gene Symbol AIRE
Entrez Gene 326
Alt Symbol AIRE1, APECED, APS1, APSI, PGA1
Species Human
Gene Type protein-coding
Description autoimmune regulator
Other Description autoimmune polyendocrinopathy candidiasis ectodermal dystrophy protein
Swissprots O43922 O75745 B2RP50 O43932 O43918
Accessions BAA23990 BAA23991 BAA23992 BAA95560 BAF62470 CAA08759 EAX09441 EAX09443 O43918 AB006682 BAA23988 AB006683 BAA23989 AB006685 BAA23993 AK309572 BC137268 AAI37269 BC137270 AAI37271 BC142608 Z97990 CAB10790 XM_011529551 XP_011527853 NM_000383 NP_000374 NM_000658 NM_000659
Function Transcriptional regulator that binds to DNA as a dimer or as a tetramer, but not as a monomer. Binds to G-doublets in an A/T-rich environment; the preferred motif is a tandem repeat of 5'-. ATTGGTTA-3' combined with a 5'-TTATTA-3' box. Binds to nucleosomes (By similarity). Binds to chromatin and interacts selectively with histone H3 that is not methylated at 'Lys-4', not phosphorylated at 'Thr-3' and not methylated at 'Arg-2'. Functions as a sensor of histone H3 modifications that are important for the epigenetic regulation of gene expression. Functions as a transcriptional activator and promotes the expression of otherwise tissue-specific self-antigens in the thymus, which is important for self tolerance and the avoidance of autoimmune reactions. {ECO:0000250, ECO:0000269|PubMed:11274163, ECO:0000269|PubMed:18292755}.
Subcellular Location Nucleus. Cytoplasm. Note=Associated with tubular structures and in discrete nuclear dots resembling ND10 nuclear bodies. May shuttle between nucleus and cytoplasm.
Tissue Specificity Widely expressed. Expressed at higher level in thymus (medullary epithelial cells and monocyte-dendritic cells), pancreas, adrenal cortex and testis. Expressed at lower level in the spleen, fetal liver and lymph nodes. Isoform 2 and isoform 3 seem to be less frequently expressed than isoform 1, if at all.
Top Pathways Ubiquitin mediated proteolysis, Primary immunodeficiency