Details for: AIRE
Associated with
Other Information
Genular Protein ID: 2417797388
Symbol: AIRE_HUMAN
Name: Autoimmune regulator
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 9398839
PubMed ID: 9398840
Title: An autoimmune disease, APECED, caused by mutations in a novel gene featuring two PHD-type zinc-finger domains.
PubMed ID: 9398840
DOI: 10.1038/ng1297-399
PubMed ID: 10830953
PubMed ID: 15489334
Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
PubMed ID: 15489334
DOI: 10.1101/gr.2596504
PubMed ID: 9931333
Title: Localization of the APECED protein in distinct nuclear structures.
PubMed ID: 9931333
DOI: 10.1093/hmg/8.2.259
PubMed ID: 11533054
Title: The autoimmune regulator (AIRE) is a DNA-binding protein.
PubMed ID: 11533054
PubMed ID: 10677297
Title: Mutations in the AIRE gene: effects on subcellular location and transactivation function of the autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy protein.
PubMed ID: 10677297
DOI: 10.1086/302765
PubMed ID: 11274163
Title: Subcellular localization of the autoimmune regulator protein. characterization of nuclear targeting and transcriptional activation domain.
PubMed ID: 11274163
PubMed ID: 14974083
Title: APECED-causing mutations in AIRE reveal the functional domains of the protein.
PubMed ID: 14974083
DOI: 10.1002/humu.20003
PubMed ID: 18292755
Title: The autoimmune regulator PHD finger binds to non-methylated histone H3K4 to activate gene expression.
PubMed ID: 18292755
PubMed ID: 19302042
PubMed ID: 23993652
Title: Extrathymic Aire-expressing cells are a distinct bone marrow-derived population that induce functional inactivation of CD4[?] T cells.
PubMed ID: 23993652
PubMed ID: 26972725
Title: AIRE expands: new roles in immune tolerance and beyond.
PubMed ID: 26972725
DOI: 10.1038/nri.2016.9
PubMed ID: 15649886
Title: NMR structure of the first PHD finger of autoimmune regulator protein (AIRE1). Insights into autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) disease.
PubMed ID: 15649886
PubMed ID: 19293276
Title: 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.
PubMed ID: 19293276
DOI: 10.1093/nar/gkp166
PubMed ID: 19446523
Title: Structure and site-specific recognition of histone H3 by the PHD finger of human autoimmune regulator.
PubMed ID: 19446523
PubMed ID: 9888391
Title: Mutation analyses of North American APS-1 patients.
PubMed ID: 9888391
DOI: 10.1002/(sici)1098-1004(1999)13:1<69::aid-humu8>3.0.co;2-6
PubMed ID: 9717837
Title: Common mutations in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients of different origins.
PubMed ID: 9717837
PubMed ID: 11275943
Title: Identification of a novel mutation in the autoimmune regulator (AIRE-1) gene in a French family with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy.
PubMed ID: 11275943
PubMed ID: 11524731
Title: APECED mutations in the autoimmune regulator (AIRE) gene.
PubMed ID: 11524731
DOI: 10.1002/humu.1176
PubMed ID: 11524733
Title: Novel AIRE mutations and P450 cytochrome autoantibodies in Central and Eastern European patients with APECED.
PubMed ID: 11524733
DOI: 10.1002/humu.1178
PubMed ID: 11600535
Title: 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.
PubMed ID: 11600535
PubMed ID: 12173302
Title: Distinct clinical phenotype and immunoreactivity in Japanese siblings with autoimmune polyglandular syndrome type 1 (APS-1) associated with compound heterozygous novel AIRE gene mutations.
PubMed ID: 12173302
PubMed ID: 12625412
Title: 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.
PubMed ID: 12625412
PubMed ID: 11836330
Title: Delineation of the molecular defects in the AIRE gene in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients from Southern Italy.
PubMed ID: 11836330
PubMed ID: 12050215
Title: AIRE mutations and human leukocyte antigen genotypes as determinants of the autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy phenotype.
PubMed ID: 12050215
PubMed ID: 15712268
Title: Two novel mutations of the AIRE protein affecting its homodimerization properties.
PubMed ID: 15712268
DOI: 10.1002/humu.9309
PubMed ID: 16114041
Title: Functional analysis of SAND mutations in AIRE supports dominant inheritance of the G228W mutation.
PubMed ID: 16114041
DOI: 10.1002/humu.20224
PubMed ID: 26084028
Title: Dominant mutations in the autoimmune regulator AIRE are associated with common organ-specific autoimmune diseases.
PubMed ID: 26084028
PubMed ID: 27426947
Title: AIRE-deficient patients harbor unique high-affinity disease-ameliorating autoantibodies.
PubMed ID: 27426947
Sequence Information:
- Length: 545
- Mass: 57727
- Checksum: 8CF703F8C9411BC5
- Sequence:
MATDAALRRL LRLHRTEIAV AVDSAFPLLH ALADHDVVPE DKFQETLHLK EKEGCPQAFH ALLSWLLTQD STAILDFWRV LFKDYNLERY GRLQPILDSF PKDVDLSQPR KGRKPPAVPK ALVPPPRLPT KRKASEEARA AAPAALTPRG TASPGSQLKA KPPKKPESSA EQQRLPLGNG IQTMSASVQR AVAMSSGDVP GARGAVEGIL IQQVFESGGS KKCIQVGGEF YTPSKFEDSG SGKNKARSSS GPKPLVRAKG AQGAAPGGGE ARLGQQGSVP APLALPSDPQ LHQKNEDECA VCRDGGELIC CDGCPRAFHL ACLSPPLREI PSGTWRCSSC LQATVQEVQP RAEEPRPQEP PVETPLPPGL RSAGEEVRGP PGEPLAGMDT TLVYKHLPAP PSAAPLPGLD SSALHPLLCV GPEGQQNLAP GARCGVCGDG TDVLRCTHCA AAFHWRCHFP AGTSRPGTGL RCRSCSGDVT PAPVEGVLAP SPARLAPGPA KDDTASHEPA LHRDDLESLL SEHTFDGILQ WAIQSMARPA APFPS
Database document:
This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.