NP_000374
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Related Accession #
NCBI Official Full Name
autoimmune regulator
NCBI Official Synonym Full Names
autoimmune regulator
NCBI Official Synonym Symbols
APS1; APSI; PGA1; AIRE1; APECED [Similar Products]
NCBI Protein Information
autoimmune regulator
UniProt Protein Name
Autoimmune regulator
UniProt Synonym Protein Names
Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy protein
UniProt Synonym Gene Names
UniProt Entry Name
AIRE_HUMAN
NCBI Summary for AIRE
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]
UniProt Comments for AIRE
AIRE: 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. Defects in AIRE are a cause of autoimmune poly- endocrinopathy candidiasis ectodermal dystrophy (APS1). An autosomal recessive disease characterized by the combination of chronic mucocutaneous candidiasis, hypoparathyroidism and Addison disease. Symptoms of mucocutaneous candidiasis manifest first, followed by hypotension or fatigue occurring as a result of Addison disease. APS1 is associated with other autoimmune disorders including diabetes mellitus, vitiligo, alopecia, hepatitis, pernicious anemia and primary hypothyroidism. Most of the mutations alter the nucleus-cytoplasm distribution of AIRE and disturb its association with nuclear dots and cytoplasmic filaments. Most of the mutations also decrease transactivation of the protein. The HSR domain is responsible for the homomultimerization activity of AIRE. All the missense mutations of the HSR and the SAND domains decrease this activity, but those in other domains do not. The AIRE protein is present in soluble high-molecular-weight complexes. Mutations in the HSR domain and deletion of PHD zinc fingers disturb the formation of these complexes. 4 isoforms of the human protein are produced by alternative splicing.
Protein type: Transcription factor
Chromosomal Location of Human Ortholog: 21q22.3
Cellular Component: cytoplasm; nucleus
Molecular Function: identical protein binding; protein binding; histone binding; zinc ion binding; translation regulator activity; chromatin binding
Biological Process: regulation of translation; regulation of transcription, DNA-dependent; transcription, DNA-dependent; positive regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter; immune response; humoral immune response
Disease: Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Research Articles on AIRE
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Pathways associated with AIRE blocking peptide
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