Property Summary

NCBI Gene PubMed Count 156
Grant Count 193
R01 Count 90
Funding $40,102,927.96
PubMed Score 885.53
PubTator Score 699.57

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (1)

Disease log2 FC p
psoriasis -2.100 0.000

Synonym

Accession O43918 B2RP50 O43922 O43932 O75745
Symbols APS1
APSI
PGA1
AIRE1
APECED

Gene

PDB

1XWH   2KE1   2KFT   2LRI  

 GO Component (2)

 GWAS Trait (1)

Gene RIF (143)

PMID Text
27264825 The rs2075876 and rs760426 loci of the AIRE gene are associated with increased risk for rheumatoid arthritis among ethnic Han Chinese from ShaanXi.
27072778 androgen control of an intrathymic Aire-mediated tolerance mechanism contributes to gender differences in autoimmunity.
27048654 This study supports the notion that AIRE mutation could specifically affect human insulin gene expression in thymic epithelial cells through INS-VNTR and subsequently induce either insulin tolerance or autoimmunity.
26999605 results indicate that in females, estrogen induces epigenetic changes in the AIRE gene, leading to reduced AIRE expression under a threshold that increases female susceptibility to autoimmune diseases.
26903062 The novel mutation of c.622G>T (p.G208W) in AIRE gene is associated autoimmune polyendocrinopathy syndrome type I.
26607109 In the current study, we demonstrate that AIRE activates the expression of transiently transfected luciferase reporters that lack defined promoter regions, as well as intron and poly(A) signal sequences.
26579596 Molecular characterization of the functional domains of Aire has revealed multiple binding partners that assist Aire's function in altering gene transcription and chromatin remodeling.
26503950 These results suggest that Aire expression is inherent to all medullary thymic epithelial cells (mTECs) but may occur at particular stage(s) and/or cellular states during their differentiation, thus accounting for the broad impact of Aire on the promiscuous gene expression of mTECs.
26168014 Data indicate that autoimmune regulator Aire mRNA transcripts are regulated in a keratin 17 (K17) dependent manner in skin tumor keratinocytes.
26114819 Keratopathy can be an early and severe manifestation of APS1, which contributes to the global prognosis of the disease. Its mechanisms remain to be elucidated.
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AA Sequence

MATDAALRRLLRLHRTEIAVAVDSAFPLLHALADHDVVPEDKFQETLHLKEKEGCPQAFHALLSWLLTQD      1 - 70
STAILDFWRVLFKDYNLERYGRLQPILDSFPKDVDLSQPRKGRKPPAVPKALVPPPRLPTKRKASEEARA     71 - 140
AAPAALTPRGTASPGSQLKAKPPKKPESSAEQQRLPLGNGIQTMSASVQRAVAMSSGDVPGARGAVEGIL    141 - 210
IQQVFESGGSKKCIQVGGEFYTPSKFEDSGSGKNKARSSSGPKPLVRAKGAQGAAPGGGEARLGQQGSVP    211 - 280
APLALPSDPQLHQKNEDECAVCRDGGELICCDGCPRAFHLACLSPPLREIPSGTWRCSSCLQATVQEVQP    281 - 350
RAEEPRPQEPPVETPLPPGLRSAGEEVRGPPGEPLAGMDTTLVYKHLPAPPSAAPLPGLDSSALHPLLCV    351 - 420
GPEGQQNLAPGARCGVCGDGTDVLRCTHCAAAFHWRCHFPAGTSRPGTGLRCRSCSGDVTPAPVEGVLAP    421 - 490
SPARLAPGPAKDDTASHEPALHRDDLESLLSEHTFDGILQWAIQSMARPAAPFPS                   491 - 545
//

Text Mined References (159)

PMID Year Title
27264825 2016 [Association of AIRE gene polymorphisms with susceptibility to rheumatoid arthritis among ethnic Han Chinese from Shaanxi].
27072778 2016 Sex bias in CNS autoimmune disease mediated by androgen control of autoimmune regulator.
27048654 2016 Functional Domains of Autoimmune Regulator (AIRE) Modulate INS-VNTR Transcription in Human Thymic Epithelial Cells.
26999605 2016 Estrogen-mediated downregulation of AIRE influences sexual dimorphism in autoimmune diseases.
26903062 2016 [Clinical analysis and autoimmune regulator gene mutation of autoimmune polyendocrinopathy syndrome type I in a family: a report of one case].
26607109 2015 Extended HSR/CARD domain mediates AIRE binding to DNA.
26579596 2015 Central tolerance to self revealed by the autoimmune regulator.
26503950 2015 Aire Expression Is Inherent to Most Medullary Thymic Epithelial Cells during Their Differentiation Program.
26168014 2015 Keratin-dependent regulation of Aire and gene expression in skin tumor keratinocytes.
26114819 2015 Keratopathy in Autoimmune Polyendocrinopathy Syndrome Type 1.
More...