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AIRE autoimmune regulator [ Homo sapiens (human) ]

Gene ID: 326, updated on 2-Oct-2018

Summary

Official Symbol
AIREprovided by HGNC
Official Full Name
autoimmune regulatorprovided by HGNC
Primary source
HGNC:HGNC:360
See related
Ensembl:ENSG00000160224 MIM:607358; Vega:OTTHUMG00000086921
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

Genomic context

See AIRE in Genome Data Viewer
Location:
21q22.3
Exon count:
14
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 21 NC_000021.9 (44285838..44298219)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (45705721..45718102)

Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene inducible T cell costimulator ligand Neighboring gene uncharacterized LOC105372833 Neighboring gene DNA methyltransferase 3 like Neighboring gene phosphofructokinase, liver type Neighboring gene cilia and flagella associated protein 410

Genomic regions, transcripts, and products

Expression

  • 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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

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

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

Pathways from BioSystems

  • Primary immunodeficiency, organism-specific biosystem (from KEGG)
    Primary immunodeficiency, organism-specific biosystemPrimary immunodeficiencies (PIs) are a heterogeneous group of disorders, which affect cellular and humoral immunity or non-specific host defense mechanisms mediated by complement proteins, and cells ...
  • Primary immunodeficiency, conserved biosystem (from KEGG)
    Primary immunodeficiency, conserved biosystemPrimary immunodeficiencies (PIs) are a heterogeneous group of disorders, which affect cellular and humoral immunity or non-specific host defense mechanisms mediated by complement proteins, and cells ...
  • Ubiquitin mediated proteolysis, organism-specific biosystem (from KEGG)
    Ubiquitin mediated proteolysis, organism-specific biosystemProtein ubiquitination plays an important role in eukaryotic cellular processes. It mainly functions as a signal for 26S proteasome dependent protein degradation. The addition of ubiquitin to protein...
  • Ubiquitin mediated proteolysis, conserved biosystem (from KEGG)
    Ubiquitin mediated proteolysis, conserved biosystemProtein ubiquitination plays an important role in eukaryotic cellular processes. It mainly functions as a signal for 26S proteasome dependent protein degradation. The addition of ubiquitin to protein...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

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

General protein information

Preferred Names
autoimmune regulator
Names
autoimmune polyendocrinopathy candidiasis ectodermal dystrophy protein

NCBI Reference Sequences (RefSeq)

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_000383.3NP_000374.1  autoimmune regulator

    See identical proteins and their annotated locations for NP_000374.1

    Status: REVIEWED

    Source sequence(s)
    AB006682, BC142608
    Consensus CDS
    CCDS13706.1
    UniProtKB/Swiss-Prot
    O43918
    Related
    ENSP00000291582.5, OTTHUMP00000109528, ENST00000291582.5, OTTHUMT00000195842
    Conserved Domains (5) summary
    cd15539
    Location:298340
    PHD1_AIRE; PHD finger 1 found in autoimmune regulator (AIRE)
    cd15540
    Location:433475
    PHD2_AIRE; PHD finger 2 found in autoimmune regulator (AIRE)
    pfam02479
    Location:332375
    Herpes_IE68; Herpesvirus immediate early protein
    pfam03172
    Location:16102
    Sp100; Sp100 domain
    cl02536
    Location:197250
    SAND; SAND domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000021.9 Reference GRCh38.p12 Primary Assembly

    Range
    44285838..44298219
    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.
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