AC T05990
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ID T05990
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DT 31.05.2004 (created); vma.
DT 08.04.2008 (updated); res.
CO Copyright (C), QIAGEN.
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FA AIRE
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SY AIRE; APECED; APS1; APSI; Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy protein; Autoimmune regulator; PGA1.
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OS human, Homo sapiens
OC eukaryota; animalia; metazoa; chordata; vertebrata; tetrapoda; mammalia; eutheria; primates
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GE G009545 AIRE; HGNC: AIRE.
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CL C0077; SAND; 5.3.1.0.1.
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SF contains two plant homeodomain-type zinc fingers, a SAND domain, and four LXXLL motifs [1] [2];
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FF PHD2 domain of AIRE is essential for transcriptional activation. [4];
FF PHD1 domain of AIRE mediates E3 ligase activity. [4];
FF mutated in patients with autoimmune polyglandular syndrome type 1 (APS1 = APECED) [2];
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MX M00999 V$AIRE_01.
MX M01000 V$AIRE_02.
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DR TRANSPATH: MO000042240.
DR UniProtKB: O43918; AIRE_HUMAN.
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RN [1]; RE0023681.
RX PUBMED: 11533054.
RA Kumar P. G., Laloraya M., Wang C. Y., Ruan Q. G., Davoodi-Semiromi A., Kao K. J., She J. X.
RT The autoimmune regulator (AIRE) is a DNA-binding protein.
RL J. Biol. Chem. 276:41357-41364 (2001).
RN [2]; RE0024336.
RX PUBMED: 9398839.
RA Nagamine K., Peterson P., Scott H. S., Kudoh J., Minoshima S., Heino M., Krohn K. J., Lalioti M. D., Mullis P. E., Antonarakis S. E., Kawasaki K., Asakawa S., Ito F., Shimizu N.
RT Positional cloning of the APECED gene.
RL Nat. Genet. 17:393-398 (1997).
RN [3]; RE0052342.
RX PUBMED: 18083234.
RA Ilmarinen T., Kangas H., Kytomaa T., Eskelin P., Saharinen J., Seeler J. S., Tanhuanpaa K., Chan F. Y., Slattery R. M., Alakurtti K., Palvimo J. J., Ulmanen I.
RT Functional interaction of AIRE with PIAS1 in transcriptional regulation.
RL Mol. Immunol. 45:1847-1862 (2008).
RN [4]; RE0052511.
RX PUBMED: 14734522.
RA Uchida D., Hatakeyama S., Matsushima A., Han H., Ishido S., Hotta H., Kudoh J., Shimizu N., Doucas V., Nakayama K. I., Kuroda N., Matsumoto M.
RT AIRE functions as an E3 ubiquitin ligase.
RL J. Exp. Med. 199:167-172 (2004).
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