Mus musculus Protein: Aire | |||||||||||||||||||||||
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Summary | |||||||||||||||||||||||
InnateDB Protein | IDBP-270970.6 | ||||||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||||||
Gene Symbol | Aire | ||||||||||||||||||||||
Protein Name | autoimmune regulator (autoimmune polyendocrinopathy candidiasis ectodermal dystrophy) | ||||||||||||||||||||||
Synonyms | |||||||||||||||||||||||
Species | Mus musculus | ||||||||||||||||||||||
Ensembl Protein | ENSMUSP00000101034 | ||||||||||||||||||||||
InnateDB Gene | IDBG-168233 (Aire) | ||||||||||||||||||||||
Protein Structure | |||||||||||||||||||||||
UniProt Annotation | |||||||||||||||||||||||
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. 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 (By similarity). {ECO:0000250}. | ||||||||||||||||||||||
Subcellular Localization | Nucleus {ECO:0000255PROSITE- ProRule:PRU00185, ECO:0000255PROSITE-ProRule:PRU00747, ECO:0000269PubMed:11156688}. Cytoplasm {ECO:0000269PubMed:11156688}. Note=Predominantly nuclear but also cytoplasmic. Found in nuclear body-like structures and in a filamentous vimentin-like pattern. | ||||||||||||||||||||||
Disease Associations | |||||||||||||||||||||||
Tissue Specificity | Expression may be restricted to a small number of scattered cells in most tissues. Highly expressed in a few cells in the medulla of the thymus. Detected at very low levels in thymus, lymph node, liver, brain, ovary, lung, testis, kidney, heart, spleen, bone marrow, skeletal muscle and adrenal gland. Isoforms 1a to 1d predominate, isoforms 2a to 2d are intermediate and isoforms 3a to 3d are expressed at extremely low levels. | ||||||||||||||||||||||
Comments | |||||||||||||||||||||||
Interactions | |||||||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 9 experimentally validated interaction(s) in this database.
They are also associated with 54 interaction(s) predicted by orthology.
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Gene Ontology | |||||||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Protein Structure and Domains | |||||||||||||||||||||||
PDB ID | MGI:1338803 | ||||||||||||||||||||||
InterPro |
IPR000770
SAND domain IPR001965 Zinc finger, PHD-type IPR004865 Sp100 IPR008087 Autoimmune regulator, AIRE IPR010919 SAND domain-like IPR011011 Zinc finger, FYVE/PHD-type IPR019787 Zinc finger, PHD-finger |
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PFAM |
PF01342
PF03172 PF00628 |
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PRINTS |
PR01711
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PIRSF | |||||||||||||||||||||||
SMART |
SM00258
SM00249 |
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TIGRFAMs | |||||||||||||||||||||||
Post-translational Modifications | |||||||||||||||||||||||
Modification | |||||||||||||||||||||||
Cross-References | |||||||||||||||||||||||
SwissProt | Q9Z0E3 | ||||||||||||||||||||||
PhosphoSite | PhosphoSite- | ||||||||||||||||||||||
TrEMBL | |||||||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||||||
Entrez Gene | 11634 | ||||||||||||||||||||||
UniGene | Mm.35300 | ||||||||||||||||||||||
RefSeq | NP_001258485 | ||||||||||||||||||||||
MGI ID | |||||||||||||||||||||||
MGI Symbol | Aire | ||||||||||||||||||||||
OMIM | |||||||||||||||||||||||
CCDS | CCDS70054 | ||||||||||||||||||||||
HPRD | |||||||||||||||||||||||
IMGT | |||||||||||||||||||||||
EMBL | AF079536 AF105002 AF128115 AF128116 AF128117 AF128118 AF128119 AF128120 AF128121 AF128122 AF128123 AF128124 AF128125 AF128772 AF128773 AJ007715 AJ132243 AJ243821 | ||||||||||||||||||||||
GenPept | AAD20444 AAD46421 AAF36460 AAF36461 AAF36462 AAF36463 AAF36464 AAF36465 AAF36466 AAF36467 AAF36468 AAF36469 AAF36470 AAF36481 AAF36482 CAA07620 CAB36909 CAB66141 | ||||||||||||||||||||||