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 |
AIRE-1 (D-17) - sc-17986 from Santa Cruz Biotechnology
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AIRE-1 (M-300) - sc-33189 from Santa Cruz Biotechnology
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AIRE-1 (C-2) - sc-373703 from Santa Cruz Biotechnology
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AIRE-1 (H-300) - sc-33188 from Santa Cruz Biotechnology
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AIRE-1 (N-20) - sc-17985 from Santa Cruz Biotechnology
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Anti-AIRE (phospho S156) antibody - ab78211 from Abcam
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Anti-AIRE (phospho S156) antibody - ab193675 from Abcam
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Anti-AIRE antibody - ab111925 from Abcam
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Anti-AIRE antibody - ab65040 from Abcam
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Anti-AIRE antibody - ab82493 from Abcam
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Anti-AIRE antibody - ab56327 from Abcam
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Anti-AIRE antibody - ChIP Grade - ab13573 from Abcam
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Anti-AIRE Antibody (aa76-125) - LS-C29968 from LifeSpan Bioscience
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Anti-AIRE Antibody (aa76-125) - LS-C31748 from LifeSpan Bioscience
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Anti-AIRE Antibody (aa476-552) - LS-C126648 from LifeSpan Bioscience
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Anti-AIRE Antibody (aa476-545) - LS-C126647 from LifeSpan Bioscience
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Anti-AIRE Antibody (aa152-172) - LS-C149008 from LifeSpan Bioscience
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Anti-AIRE Antibody (aa476-552, clone 12K6, PE) - LS-C182757 from LifeSpan Bioscience
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Anti-AIRE Antibody (aa218-267) - LS-C79983 from LifeSpan Bioscience
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Anti-AIRE Antibody (aa467-516) - LS-C110232 from LifeSpan Bioscience
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Anti-AIRE Antibody (aa159-172) - LS-C54468 from LifeSpan Bioscience
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Anti-AIRE Antibody (aa64-92, AP) - LS-C251079 from LifeSpan Bioscience
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Anti-AIRE Antibody - LS-C193029 from LifeSpan Bioscience
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Anti-AIRE Antibody (aa64-92, APC) - LS-C251080 from LifeSpan Bioscience
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Anti-AIRE Antibody (aa64-92, Biotin) - LS-C251081 from LifeSpan Bioscience
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