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AIRE

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GENERAL INFORMATION

Gene name

 AIRE

Gene description

 Autoimmune regulator

Protein class

 Disease related genes
Predicted intracellular proteins
Transcription factors

Predicted localization

 Intracellular

Number of transcripts

 1
SHOW MORE

HUMAN PROTEIN ATLAS INFORMATION

Summary

RNA cell category

 Not detected

Protein evidence

 Evidence at protein level

Main location

 Not available

DATA RELIABILITY

Reliability score

 Pending cell analysis.

ASSAYS
RNA expression

RNA EXPRESSION OVERVIEW
RNA cell line category: Not detected
Organ
Origin
Category
Expression
Alphabetical
Cell lines sorted after organ of phenotypic resemblance.

GENE INFORMATION

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

Cytoband

 q22.3

Chromosome location (bp)

 44285838 - 44298648

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000160224 (version 83.38)

Entrez gene

 326

UniProt

 O43918 (UniProt - Evidence at protein level)

neXtProt

 NX_O43918

Antibodypedia

 AIRE antibodies

PROTEIN BROWSER
AIRE-001

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
AIRE-001
ENSP00000291582
ENST00000291582
O43918 [Direct mapping]
Autoimmune regulator
Show all
Predicted intracellular proteins
Transcription factors
   alpha-Helices exposed by beta-structures
Disease related genes
Show all
GO:0000977 [RNA polymerase II regulatory region sequence-specific DNA binding]
GO:0001228 [transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding]
GO:0003677 [DNA binding]
GO:0003682 [chromatin binding]
GO:0003712 [transcription cofactor activity]
GO:0005515 [protein binding]
GO:0005622 [intracellular]
GO:0005634 [nucleus]
GO:0005737 [cytoplasm]
GO:0006355 [regulation of transcription, DNA-templated]
GO:0006366 [transcription from RNA polymerase II promoter]
GO:0006417 [regulation of translation]
GO:0006955 [immune response]
GO:0006959 [humoral immune response]
GO:0008270 [zinc ion binding]
GO:0042393 [histone binding]
GO:0042802 [identical protein binding]
GO:0044212 [transcription regulatory region DNA binding]
GO:0045182 [translation regulator activity]
GO:0045893 [positive regulation of transcription, DNA-templated]
GO:0045944 [positive regulation of transcription from RNA polymerase II promoter]
Show all
 545 aa
57.7 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.