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Index > Protein center > AIRE(Gene name) > Human
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  • AIRE (Gene name),
  • Autoimmune regulator (Protein name ),  AIRE_HUMAN from NCBI database.
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  • General Annotation
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  • Antigen Annotation
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  • Gene name:
    AIRE(APECED);
    Protein name:
    Autoimmune regulator;
    Alternative:
    Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy protein(APECED protein);
    Organism:
    Human (Homo sapiens). 
    General Annotation
    Sub Unit:
    Homodimer and homotetramer. Interacts with CREBBP. Interacts preferentially with histone H3 that is not methylated at 'Lys-4'. Binds with lower affinity to histone H3 that is monomethylated at 'Lys-4'. Trimethylation of histone H3 at 'Lys-4' or phosphorylation at 'Thr-3' abolish the interaction. Binds with lower affinity to histone H3 that is acetylated at 'Lys-4', or that is acetylated at 'Lys-9' or trimethylated at 'Lys-9'. Binds histone H3 that is dimethylated at 'Arg-2' with very low affinity.
    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 (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.
    Subcellular Location:
    Nucleus Cytoplasm Associated with tubular structures and in discrete nuclear dots resembling ND10 nuclear bodies. May shuttle between nucleus and cytoplasm.
    Protein Attributes:
    Sequence length:
    545
    Sequence:
    50:
    MATDAALRRL | LRLHRTEIAV | AVDSAFPLLH | ALADHDVVPE | DKFQETLHLK | 
    100:
    EKEGCPQAFH | ALLSWLLTQD | STAILDFWRV | LFKDYNLERY | GRLQPILDSF | 
    150:
    PKDVDLSQPR | KGRKPPAVPK | ALVPPPRLPT | KRKASEEARA | AAPAALTPRG | 
    200:
    TASPGSQLKA | KPPKKPESSA | EQQRLPLGNG | IQTMSASVQR | AVAMSSGDVP | 
    250:
    GARGAVEGIL | IQQVFESGGS | KKCIQVGGEF | YTPSKFEDSG | SGKNKARSSS | 
    300:
    GPKPLVRAKG | AQGAAPGGGE | ARLGQQGSVP | APLALPSDPQ | LHQKNEDECA | 
    350:
    VCRDGGELIC | CDGCPRAFHL | ACLSPPLREI | PSGTWRCSSC | LQATVQEVQP | 
    400:
    RAEEPRPQEP | PVETPLPPGL | RSAGEEVRGP | PGEPLAGMDT | TLVYKHLPAP | 
    450:
    PSAAPLPGLD | SSALHPLLCV | GPEGQQNLAP | GARCGVCGDG | TDVLRCTHCA | 
    500:
    AAFHWRCHFP | AGTSRPGTGL | RCRSCSGDVT | PAPVEGVLAP | SPARLAPGPA | 
    545:
    KDDTASHEPA | LHRDDLESLL | SEHTFDGILQ | WAIQSMARPA | APFPS
    3D Structure:
    N/A
    Predicted Eptitope:
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    EIAab Sequence  Vaild Sequence:
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    Related Databases
    Pfam:
    KEGG:
    String:
    SMR:
    MIM:
    UniGene:
    Uniprot:
     
    FOR
    ELISA Kit for Human Autoimmune regulator
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    ELISA Kit for Human Autoimmune regulator
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    E13302m
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    CLIA Kit for Human Autoimmune regulator
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    U13302m
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    CLIA Kit for Human Autoimmune regulator
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    U13302h
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    MSDS:
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    Packing:
    96T
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    Polyclonal Antibody for Human Autoimmune regulator
    Polyclonal Antibody for Human Autoimmune regulator
    Monoclonal Antibody for Human Autoimmune regulator
    Monoclonal Antibody for Human Autoimmune regulator
    Protein for Human Autoimmune regulator
    Protein for Human Autoimmune regulator

    R&D Technical Data
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    Precision
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    Recovery
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    Linearity
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    References
    1. 1.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORMS 1; 2 AND 3);VARIANT APS1 GLU-83
      tissue: Thymus.
    2. 2.
      "An autoimmune disease, APECED, caused by mutations in a novel gene featuring two PHD-type zinc-finger domains."
      Aaltonen J. , Bjoerses P. , Perheentupa J. , Horelli-Kuitunen N. , Palotie A. , Peltonen L. , Lee Y.S. , Francis F. , Hennig S. , Thiel C. , Lehrach H. , Yaspo M.-L.
      Nat. Genet.17:399-403(1997) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 1)
      tissue: Thymus.
    3. 3.
      Lee Y.S. , Francis F. , Hennig S. , Thiel C. , Reinhard R. , Lehrach H. , Yaspo M.-L.
      Submitted (1998-07) to the EMBL/GenBank/DDBJ databases
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]
    4. 5.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]
    5. 6.
      "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res.14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 4)
    6. 7.
      "Localization of the APECED protein in distinct nuclear structures."
      Bjoerses P. , Pelto-Huikko M. , Kaukonen J. , Aaltonen J. , Peltonen L. , Ulmanen I.
      Hum. Mol. Genet.8:259-266(1999) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: SUBCELLULAR LOCATION
    7. 8.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: PARTIAL PROTEIN SEQUENCE;SUBUNIT STRUCTURE;DNA-BINDING;PHOSPHORYLATION
    8. 9.
      "Mutations in the AIRE gene: effects on subcellular location and transactivation function of the autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy protein."
      Bjeorses P. , Halonen M. , Palvimo J.J. , Kolmer M. , Aaltonen J. , Ellonen P. , Perheentupa J. , Ulmanen I. , Peltonen L.
      Am. J. Hum. Genet.66:378-392(2000) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: SUBCELLULAR LOCATION;VARIANTS APS1 LEU-80; CYS-85; TYR-311 AND GLN-326
    9. 10.
      "Subcellular localization of the autoimmune regulator protein. characterization of nuclear targeting and transcriptional activation domain."
      Pitkaenen J. , Vaehaemurto P. , Krohn K.J.E. , Peterson P.
      J. Biol. Chem.276:19597-19602(2001) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: SUBCELLULAR LOCATION;FUNCTION;MUTAGENESIS OF CYS-302 AND CYS-437;CHARACTERIZATION OF VARIANT APS1 PRO-28
    10. 11.
      "APECED-causing mutations in AIRE reveal the functional domains of the protein."
      Halonen M. , Kangas H. , Rueppell T. , Ilmarinen T. , Ollila J. , Kolmer M. , Vihinen M. , Palvimo J. , Saarela J. , Ulmanen I. , Eskelin P.
      Hum. Mutat.23:245-257(2004) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: SUBCELLULAR LOCATION;HOMOOLIGOMERIZATION;CHARACTERIZATION OF VARIANTS APS1 LEU-15; MET-16; VAL-21; PRO-28; PRO-29; ARG-78; LEU-80; GLU-83; CYS-90; ARG-93; TRP-228 AND GLN-326
    11. 12.
      "The autoimmune regulator PHD finger binds to non-methylated histone H3K4 to activate gene expression."
      Org T. , Chignola F. , Hetenyi C. , Gaetani M. , Rebane A. , Liiv I. , Maran U. , Mollica L. , Bottomley M.J. , Musco G. , Peterson P.
      EMBO Rep.9:370-376(2008) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: INTERACTION WITH HISTONE H3 NON-METHYLATED OR MONO-METHYLATED AT LYS-4;FUNCTION;MUTAGENESIS OF ASP-297 AND ASP-312;CHARACTERIZATION OF VARIANTS APS1 MET-301 AND TYR-311
    12. 13.
      "NMR structure of the first PHD finger of autoimmune regulator protein (AIRE1). Insights into autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) disease."
      Bottomley M.J. , Stier G. , Pennacchini D. , Legube G. , Simon B. , Akhtar A. , Sattler M. , Musco G.
      J. Biol. Chem.280:11505-11512(2005) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: STRUCTURE BY NMR OF 293-354 IN COMPLEX WITH ZINC IONS;CHARACTERIZATION OF VARIANTS APS1 MET-301; TYR-311 AND GLN-326
    13. 14.
      "The solution structure of the first PHD finger of autoimmune regulator in complex with non-modified histone H3 tail reveals the antagonistic role of H3R2 methylation."
      Chignola F. , Gaetani M. , Rebane A. , Org T. , Mollica L. , Zucchelli C. , Spitaleri A. , Mannella V. , Peterson P. , Musco G.
      Nucleic Acids Res.37:2951-2961(2009) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: STRUCTURE BY NMR OF 293-354 IN COMPLEX WITH ZINC IONS AND UNMETHYLATED HISTONE H3 N-TERMINUS;IDENTIFICATION BY MASS SPECTROMETRY;MUTAGENESIS OF ASN-295; GLU-298; ARG-303; ASP-304 AND GLU-307;INTERACTION WITH HISTOME H3
    14. 15.
      "Structure and site-specific recognition of histone H3 by the PHD finger of human autoimmune regulator."
      Chakravarty S. , Zeng L. , Zhou M.-M.
      Structure17:670-679(2009) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: STRUCTURE BY NMR OF 294-347 IN COMPLEX WITH ZINC IONS AND UNMETHYLATED HISTONE H3 N-TERMINUS;CHARACTERIZATION OF VARIANTS APS1 MET-301; TYR-311; LEU-326 AND GLN-326
    15. 16.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT APS1 PRO-28
    16. 17.
      "Common mutations in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients of different origins."
      Scott H.S. , Heino M. , Peterson P. , Mittaz L. , Lalioti M.D. , Betterle C. , Cohen A. , Seri M. , Lerone M. , Romeo G. , Collin P. , Salo M. , Metcalfe R. , Weetman A. , Papasavvas M.-P. , Rossier C. , Nagamine K. , Kudoh J. , more...
      Mol. Endocrinol.12:1112-1119(1998) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT ARG-278
    17. 18.
      "Identification of a novel mutation in the autoimmune regulator (AIRE-1) gene in a French family with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy."
      Saugier-Veber P. , Drouot N. , Wolf L.M. , Kuhn J.M. , Frebourg T. , Lefebvre H.
      Eur. J. Endocrinol.144:347-351(2001) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT APS1 LEU-326
    18. 19.
      "APECED mutations in the autoimmune regulator (AIRE) gene."
      Heino M. , Peterson P. , Kudoh J. , Shimizu N. , Antonarakis S.E. , Scott H.S. , Krohn K.J.E.
      Hum. Mutat.18:205-211(2001) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS APS1 LEU-15; MET-16; PRO-28; PR0-29; ARG-78; LEU-80; GLU-83; CYS-85; CYS-90; ARG-93; MET-301; TYR-311 AND GLN-326;VARIANT ARG-278
    19. 20.
      "Novel AIRE mutations and P450 cytochrome autoantibodies in Central and Eastern European patients with APECED."
      The MEWPE-APECED study group , Cihakova D. , Trebusak K. , Heino M. , Fadeyev V. , Tiulpakov A. , Battelino T. , Tar A. , Halasz Z. , Bluemel P. , Tawfik S. , Krohn K. , Lebl J. , Peterson P.
      Hum. Mutat.18:225-232(2001) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS APS1 MET-16 AND ARG-78
    20. 21.
      "A novel mutation of the autoimmune regulator gene in an Italian kindred with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy, acting in a dominant fashion and strongly cosegregating with hypothyroid autoimmune thyroiditis."
      Cetani F. , Barbesino G. , Borsari S. , Pardi E. , Cianferotti L. , Pinchera A. , Marcocci C.
      J. Clin. Endocrinol. Metab.86:4747-4752(2001) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT APS1 TRP-228
    21. 22.
      "Distinct clinical phenotype and immunoreactivity in Japanese siblings with autoimmune polyglandular syndrome type 1 (APS-1) associated with compound heterozygous novel AIRE gene mutations."
      Kogawa K. , Kudoh J. , Nagafuchi S. , Ohga S. , Katsuta H. , Ishibashi H. , Harada M. , Hara T. , Shimizu N.
      Clin. Immunol.103:277-283(2002) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT APS1 PRO-29
    22. 23.
      "A novel missense mutation of AIRE gene in a patient with autoimmune polyendocrinopathy, candidiasis and ectodermal dystrophy (APECED), accompanied with progressive muscular atrophy: case report and review of the literature in Japan."
      Sato K. , Nakajima K. , Imamura H. , Deguchi T. , Horinouchi S. , Yamazaki K. , Yamada E. , Kanaji Y. , Takano K.
      Endocr. J.49:625-633(2002) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT APS1 CYS-15;VARIANT ARG-278
    23. 24.
      "Delineation of the molecular defects in the AIRE gene in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients from Southern Italy."
      Meloni A. , Perniola R. , Faa V. , Corvaglia E. , Cao A. , Rosatelli M.C.
      J. Clin. Endocrinol. Metab.87:841-846(2002) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS APS1 ARG-78; LEU-252 AND LEU-539
    24. 25.
      "AIRE mutations and human leukocyte antigen genotypes as determinants of the autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy phenotype."
      Halonen M. , Eskelin P. , Myhre A.-G. , Perheentupa J. , Husebye E.S. , Kaempe O. , Rorsman F. , Peltonen L. , Ulmanen I. , Partanen J.
      J. Clin. Endocrinol. Metab.87:2568-2574(2002) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS APS1 VAL-21; CYS-85 AND TYR-311
    25. 26.
      "Two novel mutations of the AIRE protein affecting its homodimerization properties."
      Meloni A. , Fiorillo E. , Corda D. , Perniola R. , Cao A. , Rosatelli M.C.
      Hum. Mutat.25:319-319(2005) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS APS1 22-VAL-ASP-23 DEL; SER-77 AND ARG-78;CHARACTERIZATION OF VARIANTS APS1 LEU-15; MET-16; 22-VAL-ASP-23 DEL; SER-77 AND ARG-78
    26. 27.
      "Functional analysis of SAND mutations in AIRE supports dominant inheritance of the G228W mutation."
      Ilmarinen T. , Eskelin P. , Halonen M. , Rueppell T. , Kilpikari R. , Torres G.D. , Kangas H. , Ulmanen I.
      Hum. Mutat.26:322-331(2005) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: CHARACTERIZATION OF VARIANT APS1 TRP-228
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