AIRE

GENERAL INFORMATION

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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

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RNA tissue category

HPA:Not detected
GTEx:Mixed

Protein evidence

Evidence at protein level

Protein localization

Cytoplasmic expression in several tissues.

ANTIBODY RELIABILITY

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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.

Data reliability

Uncertain based on 1 antibody.
HPA038267
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Not detected

Organ

Expression

GTEx dataset
RNA tissue category:  Mixed

Organ

Expression



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

Cytoband

q22.3

Chromosome location (bp)

44285838 - 44298648

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000160224 (version 78.38)

Entrez gene

326

UniProt

O43918 (UniProt - Evidence at protein level)

neXtProt

NX_O43918

Antibodypedia

AIRE antibodies


PROTEIN BROWSER

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ENST00000291582
 
 
 
 


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
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