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AIRE autoimmune regulator [ Homo sapiens (human) ]

Gene ID: 326, updated on 7-Apr-2024

Summary

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Official Symbol
AIREprovided by HGNC
Official Full Name
autoimmune regulatorprovided by HGNC
Primary source
HGNC:HGNC:360
See related
Ensembl:ENSG00000160224 MIM:607358; AllianceGenome:HGNC:360
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
APS1; APSI; PGA1; AIRE1; APECED
Summary
This gene encodes a transcriptional regulator that forms nuclear bodies and interacts with the transcriptional coactivator CREB binding protein. The encoded protein plays an important role in immunity by regulating the expression of autoantigens and negative selection of autoreactive T-cells in the thymus. Mutations in this gene cause the rare autosomal-recessive systemic autoimmune disease termed autoimmune polyendocrinopathy with candidiasis and ectodermal dystrophy (APECED). [provided by RefSeq, Jun 2012]
Expression
Low expression observed in reference dataset See more
Orthologs
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Genomic context

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See AIRE in Genome Data Viewer
Location:
21q22.3
Exon count:
14
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 21 NC_000021.9 (44285876..44298648)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 21 NC_060945.1 (42639932..42652704)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (45705759..45718531)

Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:45642723-45643224 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:45643225-45643724 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:45645682-45646182 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:45646183-45646683 Neighboring gene inducible T cell costimulator ligand Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:45659303-45660081 Neighboring gene CRISPRi-FlowFISH-validated ICOSLG and IFNGR2 regulatory element GRCh37_chr21:45660637-45661636 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:45662586-45663124 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:45667417-45668358 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:45669258-45669773 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:45669774-45670290 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:45670291-45670805 Neighboring gene DNMT3L antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:45676001-45676989 Neighboring gene DNA methyltransferase 3 like Neighboring gene H3K27ac hESC enhancer GRCh37_chr21:45677884-45678384 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:45681495-45682054 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:45685919-45686548 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:45686549-45687178 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:45691192-45691798 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18564 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr21:45702827-45703430 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:45703431-45704032 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:45704033-45704636 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:45704637-45705238 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13378 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18565 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18566 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18567 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13379 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13380 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18568 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:45724667-45725466 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:45725506-45726160 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:45726161-45726814 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:45727470-45728123 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13381 Neighboring gene phosphofructokinase, liver type Neighboring gene Sharpr-MPRA regulatory region 3786 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18569 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:45751251-45751752 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:45751753-45752252 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13382 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13383 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18570 Neighboring gene cilia and flagella associated protein 410

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. AIRE illuminates the feature of medullary thymic epithelial cells in thymic carcinoma. Matsumoto M, et al. Cancer Med, 2023 Apr. PMID 36912123, Free PMC Article
  2. Autoimmune Regulator Gene Polymorphisms and the Risk of Primary Immune Thrombocytopenic Purpura: A Case-Control Study. Abdel Ghafar MT, et al. Int J Mol Sci, 2023 Mar 5. PMID 36902438, Free PMC Article
  3. A non-classical presentation of APECED in a family with heterozygous R203X AIRE gene mutation. Radetti G, et al. J Endocrinol Invest, 2023 Mar. PMID 36251243
  4. Spectrum of germline AIRE mutations causing APS-1 and familial hypoparathyroidism. Cranston T, et al. Eur J Endocrinol, 2022 May 24. PMID 35521792, Free PMC Article
  5. Autoimmune polyendocrine syndrome type 1 (APECED) in the Indian population: case report and review of a series of 45 patients. Fierabracci A, et al. J Endocrinol Invest, 2021 Apr. PMID 32767280

See all (218) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. AIRE is expressed in breast cancer TANs and TAMs to regulate the extrinsic apoptotic pathway and inflammation.
    Title: AIRE is expressed in breast cancer TANs and TAMs to regulate the extrinsic apoptotic pathway and inflammation.
  2. Analysis of the AIRE Gene Promoter in Patients Affected by Autoimmune Polyendocrine Syndromes.
    Title: Analysis of the AIRE Gene Promoter in Patients Affected by Autoimmune Polyendocrine Syndromes.
  3. Association Between AIRE Polymorphisms rs870881(C>T), rs1003854(T>C) and Rheumatoid Arthritis Risk: A Hungarian Case-control Study.
    Title: Association Between AIRE Polymorphisms rs870881(C>T), rs1003854(T>C) and Rheumatoid Arthritis Risk: A Hungarian Case-control Study.
  4. A novel missense mutation in the AIRE gene underlying autoimmune polyglandular syndrome type 1.
    Title: A novel missense mutation in the AIRE gene underlying autoimmune polyglandular syndrome type 1.
  5. A partial form of AIRE deficiency underlies a mild form of autoimmune polyendocrine syndrome type 1.
    Title: A partial form of AIRE deficiency underlies a mild form of autoimmune polyendocrine syndrome type 1.
  6. AIRE illuminates the feature of medullary thymic epithelial cells in thymic carcinoma.
    Title: AIRE illuminates the feature of medullary thymic epithelial cells in thymic carcinoma.
  7. Autoimmune Regulator Gene Polymorphisms and the Risk of Primary Immune Thrombocytopenic Purpura: A Case-Control Study.
    Title: Autoimmune Regulator Gene Polymorphisms and the Risk of Primary Immune Thrombocytopenic Purpura: A Case-Control Study.
  8. The promoter methylations of the autoimmune regulator (AIRE) gene and matrix metalloproteinase-3 (MMP-3) gene may have a role in gestational diabetes mellitus.
    Title: The promoter methylations of the autoimmune regulator (AIRE) gene and matrix metalloproteinase-3 (MMP-3) gene may have a role in gestational diabetes mellitus.
  9. A non-classical presentation of APECED in a family with heterozygous R203X AIRE gene mutation.
    Title: A non-classical presentation of APECED in a family with heterozygous R203X AIRE gene mutation.
  10. [Effects of FoxN1, p63 and AIRE on the process of age-related thymus involution: An update].
    Title: [Effects of FoxN1, p63 and AIRE on the process of age-related thymus involution: An update].
Submit: New GeneRIF Correction See all GeneRIFs (182)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Polyglandular autoimmune syndrome, type 1
MedGen: C0085859 OMIM: 240300 GeneReviews: Not available
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EBI GWAS Catalog

Description
The human AIRE gene at chromosome 21q22 is a genetic determinant for the predisposition to rheumatoid arthritis in Japanese population.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables chromatin binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables chromatin binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables histone binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables histone binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables identical protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables translation regulator activity IEA
Inferred from Electronic Annotation
more info
  
enables zinc ion binding IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in central tolerance induction to self antigen IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in central tolerance induction to self antigen IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in humoral immune response IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in immune response TAS
Traceable Author Statement
more info
 PubMed 
involved_in negative thymic T cell selection IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in peripheral T cell tolerance induction IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in peripheral T cell tolerance induction ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in positive regulation of DNA-templated transcription IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of DNA-templated transcription IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of chemokine production ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in positive regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in positive regulation of transcription by RNA polymerase II IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in regulation of DNA-templated transcription IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in regulation of thymocyte migration IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in regulation of thymocyte migration ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in regulation of translation IEA
Inferred from Electronic Annotation
more info
  
involved_in thymus epithelium morphogenesis IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in thymus epithelium morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
  
located_in female germ cell nucleus IEA
Inferred from Electronic Annotation
more info
  
located_in male germ cell nucleus IEA
Inferred from Electronic Annotation
more info
  
located_in nuclear body ISS
Inferred from Sequence or Structural Similarity
more info
  
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in nucleus NAS
Non-traceable Author Statement
more info
 PubMed 

General protein information

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Preferred Names
autoimmune regulator
Names
autoimmune polyendocrinopathy candidiasis ectodermal dystrophy protein

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_009556.1 RefSeqGene

    Range
    4959..17348
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_18

mRNA and Protein(s)

  1. NM_000383.4 → NP_000374.1  autoimmune regulator

    See identical proteins and their annotated locations for NP_000374.1

    Status: REVIEWED

    Source sequence(s)
    AB006682, AP001060, BC142608
    Consensus CDS
    CCDS13706.1
    UniProtKB/Swiss-Prot
    B2RP50, O43918, O43922, O43932, O75745
    Related
    ENSP00000291582.5, ENST00000291582.6
    Conserved Domains (5) summary
    cd15539
    Location:298 → 340
    PHD1_AIRE; PHD finger 1 found in autoimmune regulator (AIRE)
    cd15540
    Location:433 → 475
    PHD2_AIRE; PHD finger 2 found in autoimmune regulator (AIRE)
    pfam02479
    Location:332 → 375
    Herpes_IE68; Herpesvirus immediate early protein
    pfam03172
    Location:16 → 102
    Sp100; Sp100 domain
    cl02536
    Location:197 → 250
    SAND; SAND domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000021.9 Reference GRCh38.p14 Primary Assembly

    Range
    44285876..44298648
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060945.1 Alternate T2T-CHM13v2.0

    Range
    42639932..42652704
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_000658.2: Suppressed sequence

    Description
    NM_000658.2: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.

  2. NM_000659.1: Suppressed sequence

    Description
    NM_000659.1: This RefSeq was suppressed because it is a nonsense-mediated decay (NMD) candidate.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O43918.1 GenPept UniProtKB/Swiss-Prot:O43918

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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