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AIRE

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
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Not detected
GTEx:Tissue enhanced (hypothalamus)
FANTOM5:Tissue enhanced (caudate)

Protein evidence

 Evidence at protein level

Protein expression

 Cytoplasmic expression in several tissues.

DATA RELIABILITY

Data reliability
description

 No internal RNA expression data available for correlation. External characterization data supports antibody staining but no internal RNA data available for correlation.

Reliability score

 Uncertain based on 1 antibody.
HPA038267
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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
Caudate
N/A
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Bronchus
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Vagina
N/A
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Not detected
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enhanced (hypothalamus)
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enhanced (caudate)

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
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Predicted intracellular proteins
Transcription factors
   alpha-Helices exposed by beta-structures
Disease related genes
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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]
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 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.