Aliases for AIRE Gene
External Ids for AIRE Gene
Previous HGNC Symbols for AIRE Gene
Previous GeneCards Identifiers for AIRE Gene
This gene encodes a transcriptional regulator that forms nuclear bodies and interacts with the transcriptional coactivator CREB binding protein. The encoded protein plays an important role in immunity by regulating the expression of autoantigens and negative selection of autoreactive T-cells in the thymus. Mutations in this gene cause the rare autosomal-recessive systemic autoimmune disease termed autoimmune polyendocrinopathy with candidiasis and ectodermal dystrophy (APECED). [provided by RefSeq, Jun 2012]
GeneCards Summary for AIRE Gene
AIRE (Autoimmune Regulator) is a Protein Coding gene. Diseases associated with AIRE include autoimmune polyendocrinopathy syndrome , type i, with or without reversible metaphyseal dysplasia and autoimmune polyendocrine syndrome type 1. Among its related pathways are Class I MHC mediated antigen processing and presentation and Primary immunodeficiency. GO annotations related to this gene include identical protein binding and transcription regulatory region DNA binding. An important paralog of this gene is TRIM28.
UniProtKB/Swiss-Prot for AIRE Gene
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.