AIRE ELISA Kit for Human(Homo sapiens) | EIAab.comAIRE ELISA Kit for Human(Homo sapiens)

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Index > Protein center > AIRE(Gene name) > Human

AIRE (Gene name),

Autoimmune regulator (Protein name ), AIRE_HUMAN from NCBI database.

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General Annotation

Antigen Annotation

Predicted Eptitope

Vaild Sequence

Related Databases

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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:

100:

150:

200:

250:

300:

350:

400:

450:

500:

545:

KDDTASHEPA | LHRDDLESLL | SEHTFDGILQ | WAIQSMARPA | APFPS

3D Structure:

N/A

Predicted Eptitope:

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Vaild Sequence:

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Related Databases

STRING:

9606.ENSP00000291582

String:

O43918

KEGG:

hsa:326

MIM:

109100

SMR:

O43918

Pfam:

PF00628

UniGene:

Hs.129829

Uniprot:

O43918

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ELISA Kit for Human Autoimmune regulator

Cat.:

E13302h

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96T

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ELISA Kit for Human Autoimmune regulator

Cat.:

E13302m

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Packing:

96T

CLIA Kit for Human Autoimmune regulator

Cat.:

U13302m

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96T

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CLIA Kit for Human Autoimmune regulator

Cat.:

U13302h

Price:

Please sign in first.

Manual:

Looking for manual.

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Packing:

96T

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Polyclonal Antibody for Human Autoimmune regulator

Monoclonal Antibody for Human Autoimmune regulator

Protein for Human Autoimmune regulator

R&D Technical Data

For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.

Precision

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Recovery

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Linearity

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References

1.

"Positional cloning of the APECED gene."
Nagamine K. , Peterson P. , Scott H.S. , Kudoh J. , Minoshima S. , Heino M. , Krohn K.J.E. , Lalioti M.D. , Mullis P.E. , Antonarakis S.E. , Kawasaki K. , Asakawa S. , Ito F. , Shimizu N.
Nat. Genet.17:393-398(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] (ISOFORMS 1; 2 AND 3);VARIANT APS1 GLU-83
tissue: Thymus.
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.

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.

"The DNA sequence of human chromosome 21."
Hattori M. , Fujiyama A. , Taylor T.D. , Watanabe H. , Yada T. , Park H.-S. , Toyoda A. , Ishii K. , Totoki Y. , Choi D.-K. , Groner Y. , Soeda E. , Ohki M. , Takagi T. , Sakaki Y. , Taudien S. , Blechschmidt K. , Polley A. , more...
Nature405:311-319(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: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]
5.

Mural R.J. , Istrail S. , Sutton G. , Florea L. , Halpern A.L. , Mobarry C.M. , Lippert R. , Walenz B. , Shatkay H. , Dew I. , Miller J.R. , Flanigan M.J. , Edwards N.J. , Bolanos R. , Fasulo D. , Halldorsson B.V. , Hannenhalli S. , Turner R. , more...
Submitted (2005-09) 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 [LARGE SCALE GENOMIC DNA]
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)
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
8.

"The autoimmune regulator (AIRE) is a DNA-binding protein."
Kumar P.G. , Laloraya M. , Wang C.-Y. , Ruan Q.-G. , Davoodi-Semiromi A. , Kao K.-J. , She J.-X.
J. Biol. Chem.276:41357-41364(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: PARTIAL PROTEIN SEQUENCE;SUBUNIT STRUCTURE;DNA-BINDING;PHOSPHORYLATION
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
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
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
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
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
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
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
16.

"Mutation analyses of North American APS-1 patients."
Heino M. , Scott H.S. , Chen Q. , Peterson P. , Maeenpaeae U. , Papasavvas M.-P. , Mittaz L. , Barras C. , Rossier C. , Chrousos G.P. , Stratakis C.A. , Nagamine K. , Kudoh J. , Shimizu N. , Maclaren N. , Antonarakis S.E. , Krohn K.J.E.
Hum. Mutat.13:69-74(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: VARIANT APS1 PRO-28
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
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
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
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
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
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
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
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
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
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
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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