AIRE autoimmune regulator [Homo sapiens (human)] - Gene

Summary

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: mouse all
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Genomic context

Location:: 21q22.3

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	21	NC_000021.9 (44285876..44298648)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	21	NC_060945.1 (42639932..42652704)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	21	NC_000021.8 (45705759..45718531)

Chromosome 21 - NC_000021.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

A deep intronic splice-altering AIRE variant causes APECED syndrome through antisense oligonucleotide-targetable pseudoexon inclusion.
Title: A deep intronic splice-altering AIRE variant causes APECED syndrome through antisense oligonucleotide-targetable pseudoexon inclusion.
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.
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.
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.
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.
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.
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.
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.
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.
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.

Submit: New GeneRIF Correction See all GeneRIFs (183)

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	Compare labs

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 EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:494785

NoName (e-PCR)
- UniSTS:483801

PMC310701P3 (e-PCR)
- UniSTS:272629

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

NG_009556.1 RefSeqGene

Range

4959..17348

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GenBank, FASTA, Sequence Viewer (Graphics), LRG_18

mRNA and Protein(s)

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_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000021.9 Reference GRCh38.p14 Primary Assembly

Range

44285876..44298648

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060945.1 Alternate T2T-CHM13v2.0

Range

42639932..42652704

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GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

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.
NM_000659.1: Suppressed sequence

Description

NM_000659.1: This RefSeq was suppressed because it is a nonsense-mediated decay (NMD) candidate.