AIRE

GENE INFORMATION

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Gene name

AIRE (HGNC Symbol)

Synonyms

APECED, APS1, PGA1

Description

autoimmune regulator (HGNC Symbol)

Entrez gene 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]

Chromosome

21 (Chromosome progress)

Cytoband

q22.3

Chromosome location (bp)

45705721 - 45718531

Ensembl

ENSG00000160224 (version 73.37)

Entrez gene

326

UniProt

O43918 (UniProt - Evidence at protein level)

neXtProt

NX_O43918

Antibodypedia

AIRE antibodies
 

PROTEIN VIEW

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AIRE-001
 
AIRE-201
 
AIRE-202
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

AIRE-001 ENSP00000291582
ENST00000291582
O43918
Show all »
Show » Show » 545 57.7 No 0
AIRE-201 ENSP00000331055
ENST00000329347
C9JFR1
Show all »
Show » Show » 244 25.9 No 0
AIRE-202 ENSP00000347505
ENST00000355347
C9JL37
Show all »
Show » 338 35.5 No 0