| Gene Information | |
|---|---|
| Gene Name | AIRE |
| Organism | Homo sapiens (Human) |
| Gene Length | 545 |
| Protein Names | Autoimmune regulator (Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy protein) (APECED protein) |
| Target Name | NA |
| Target Type | NA |
| Gene Age | 544 ( ENSG00000160224 ) |
| Evolutionary Stage | Vertebrata |
| AlphaFoldDB | O43918 |
| Gene Card | AIRE |
| Uniprot ID | O43918 |
| Pfam | PF03172; PF00628; PF01342 |
| In ASD | no |
| Allosteric Prediction | yes (0.59539212) |
| Ortholog in Animals | Alpaca_ AIRE ( ortholog_one2one ) Dog_ AIRE ( ortholog_one2one ) GuineaPig_ AIRE ( ortholog_one2one ) Macaque_ AIRE ( ortholog_one2one ) Mouse_ Aire ( ortholog_one2one ) Pig_ AIRE ( ortholog_one2one ) Rat_ Aire ( ortholog_one2one ) |
| Ohnologs | NA |
| Paralogs | PHF12, ZMYND11, PHF21B, PHF21A, ZMYND8 |
| Tissue | NA |
| 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. In secondary lymphoid organs, expressed in a discrete population of bone marrow-derived toleregenic antigen presenting cells (APCs) called extrathymic AIRE expressing cells (eTAC)(at protein level) (PubMed:23993652). Isoform 2 and isoform 3 seem to be less frequently expressed than isoform 1, if at all. {ECO:0000269|PubMed:23993652}. |
| Pharmacological Animal Models | 0.000730(Chimpanzee);0.001000(Mouse);NULL(Rat);NULL(Rabbit) |
| Gene Ontology (biological process) |
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| Gene Ontology (cellular component) |
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| Gene Ontology (molecular function) |
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| PDB | 1XWH (NMR - ) 2KE1 (NMR - ) 2KFT (NMR - ) 2LRI (NMR - ) |
| DBSNP | rs179363875 rs179363876 rs179363877 rs179363886 rs179363878 rs179363879 rs179363887 rs179363880 rs179363881 rs121434255 rs179363882 rs179363883 rs179363884 rs121434257 rs34397615 rs1800520 rs763636007 rs751066946 rs150634562 rs139808903 rs778929451 rs754932526 rs74162062 rs386833674 rs202027254 rs139874934 rs776951380 rs179363885 rs179363885 rs775921321 rs74162063 rs766901260 rs769470638 rs179363889 |
| Subcellular location [CC] | Nucleus {ECO:0000269|PubMed:14974083, ECO:0000269|PubMed:26084028}. Cytoplasm {ECO:0000269|PubMed:11274163, ECO:0000269|PubMed:14974083}. Note=Predominantly nuclear but also cytoplasmic (PubMed:11274163, PubMed:14974083). Found in nuclear body-like structures (dots) and in a filamentous vimentin-like pattern (PubMed:11274163, PubMed:14974083, PubMed:26084028). Associated with tubular structures (PubMed:11274163, PubMed:14974083). {ECO:0000269|PubMed:11274163, ECO:0000269|PubMed:14974083, ECO:0000269|PubMed:26084028}. |
| Mouse PG classification | HPG |
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