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Immunogen sequence: QKNEDECAV CRDGGELICC DGCPRAFHLA CLSPPLREIP SGTWRCSSCL QATVQEVQPR AEEPRPQEPP VETPLPPGLR SAGEEVRGPP GEPLAGMDTT LVYKHLPAPP SAAPLPGLDS SALHPLLCVG PEGQQNLAPG ARCGVCGDGT DVLRCTHCAA AFHWRCHFPA GTSRPGTGLR CRSCSGDVTP APVEGVLAPS PARLAPGPAK DDTASHEPAL HRDDLESLLS EHTFDGILQW AIQSMARPAA PFPS (96-348 aa encoded by BC137270)
AIRE is a transcriptional regulator protein that binds to DNA as a dimer and tetramer, but not as a monomer, and may be involved in the regulation of gene expression. A nuclear protein, AIRE is a 545 amino acid protein with an HSR domain, two PHD type zinc fingers, and a SAND domain, and may be present in soluble high-molecular-weight complexes. It may form homodimer, homotetramer and also nuclear bodies and interacts with the transcriptional coactivator CBP and CREBBP. Three isoforms of AIRE are reported and one of them is predicted to be a candidate for nuclear-mediated decay (NMD). AIRE is involved in immune regulation and is known to mediate E3 ubiquitin ligase activity. Defects in AIRE are responsible for the rare autosomal-recessive systemic autoimmune disease termed autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED).
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蛋白别名: AIRE protein; APECED protein; APECED protein homolog; Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy protein; Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy protein homolog; Autoimmune regulator; autoimmune regulator AIRE1a; OTTHUMP00000109529
基因别名: AIRE; AIRE1; APECED; APS1; APSI; PGA1
UniProt ID: (Human) O43918, (Mouse) Q9Z0E3
Entrez Gene ID: (Human) 326, (Mouse) 11634