| 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 |