AIRE (autoimmune regulator)

2007-12-01  

Identity

HGNC
LOCATION
21q22.3
LOCUSID
ALIAS
AIRE1,APECED,APS1,APSI,PGA1

Other Information

Locus ID:

NCBI: 326
MIM: 607358
HGNC: 360
Ensembl: ENSG00000160224

Variants:

dbSNP: 326
ClinVar: 326
TCGA: ENSG00000160224
COSMIC: AIRE

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000160224ENST00000291582O43918

Expression (GTEx)

0
1
2
3
4
5

Pathways

PathwaySourceExternal ID
Ubiquitin mediated proteolysisKEGGko04120
Primary immunodeficiencyKEGGko05340
Ubiquitin mediated proteolysisKEGGhsa04120
Primary immunodeficiencyKEGGhsa05340

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
192649852009Rare variants of IFIH1, a gene implicated in antiviral responses, protect against type 1 diabetes.405
182927552008The autoimmune regulator PHD finger binds to non-methylated histone H3K4 to activate gene expression.91
179382002007AIRE recruits P-TEFb for transcriptional elongation of target genes in medullary thymic epithelial cells.58
176873312007An IRF8-binding promoter variant and AIRE control CHRNA1 promiscuous expression in thymus.51
260840282015Dominant Mutations in the Autoimmune Regulator AIRE Are Associated with Common Organ-Specific Autoimmune Diseases.45
261680142015Keratin-dependent regulation of Aire and gene expression in skin tumor keratinocytes.44
156961982005AIRE deficiency in thymus of 2 patients with Omenn syndrome.40
171189902007Autoimmune polyendocrine syndrome type 1 in Norway: phenotypic variation, autoantibodies, and novel mutations in the autoimmune regulator gene.39
194465232009Structure and site-specific recognition of histone H3 by the PHD finger of human autoimmune regulator.39
192651702009Aire-deficient C57BL/6 mice mimicking the common human 13-base pair deletion mutation present with only a mild autoimmune phenotype.38

Citation

Dessen P

AIRE (autoimmune regulator)

Atlas Genet Cytogenet Oncol Haematol. 2007-12-01

Online version: http://atlasgeneticsoncology.org/gene/49934/aire-(autoimmune-regulator)