Details for: AIRE

Gene ID: 326

Symbol: AIRE

Ensembl ID: ENSG00000160224

Description: autoimmune regulator

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: blood vessel endothelial cell (CL0000071)
    Fold Change: 2.14
    Marker Score: 2153.5
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 1.62
    Marker Score: 1176
  • Cell Name: kidney proximal convoluted tubule epithelial cell (CL1000838)
    Fold Change: 1.28
    Marker Score: 2644
  • Cell Name: goblet cell (CL0000160)
    Fold Change: 1.16
    Marker Score: 7691
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: 1.11
    Marker Score: 705
  • Cell Name: activated CD4-positive, alpha-beta T cell (CL0000896)
    Fold Change: 1.11
    Marker Score: 801
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 1.03
    Marker Score: 699
  • Cell Name: lymphocyte (CL0000542)
    Fold Change: 1.01
    Marker Score: 510
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 1.01
    Marker Score: 417
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71836
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48061
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 1
    Marker Score: 513
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.99
    Marker Score: 467
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30409
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2413
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.94
    Marker Score: 378
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.94
    Marker Score: 431.5
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.94
    Marker Score: 5354
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 0.93
    Marker Score: 1758
  • Cell Name: enterocyte of colon (CL1000347)
    Fold Change: 0.93
    Marker Score: 1427
  • Cell Name: exhausted T cell (CL0011025)
    Fold Change: 0.92
    Marker Score: 528
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.92
    Marker Score: 2742
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.91
    Marker Score: 329
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.88
    Marker Score: 1797
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5293
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.87
    Marker Score: 667
  • Cell Name: mast cell (CL0000097)
    Fold Change: 0.83
    Marker Score: 479
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1265
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.78
    Marker Score: 711
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.78
    Marker Score: 3263
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.77
    Marker Score: 401
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.7
    Marker Score: 180
  • Cell Name: T-helper 17 cell (CL0000899)
    Fold Change: 0.69
    Marker Score: 455
  • Cell Name: renal principal cell (CL0005009)
    Fold Change: 0.63
    Marker Score: 484
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.61
    Marker Score: 393.5
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.6
    Marker Score: 479
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: 0.57
    Marker Score: 150
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 0.55
    Marker Score: 175
  • Cell Name: renal alpha-intercalated cell (CL0005011)
    Fold Change: 0.54
    Marker Score: 282
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.52
    Marker Score: 8066
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.51
    Marker Score: 245
  • Cell Name: renal beta-intercalated cell (CL0002201)
    Fold Change: 0.5
    Marker Score: 158
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.48
    Marker Score: 156
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.48
    Marker Score: 290
  • Cell Name: late pro-B cell (CL0002048)
    Fold Change: 0.45
    Marker Score: 533
  • Cell Name: medullary thymic epithelial cell (CL0002365)
    Fold Change: 0.37
    Marker Score: 612
  • Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
    Fold Change: 0.37
    Marker Score: 375
  • Cell Name: parietal epithelial cell (CL1000452)
    Fold Change: 0.36
    Marker Score: 129.5
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 0.3
    Marker Score: 93
  • Cell Name: fraction A pre-pro B cell (CL0002045)
    Fold Change: 0.29
    Marker Score: 288
  • Cell Name: pro-B cell (CL0000826)
    Fold Change: 0.28
    Marker Score: 270
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 0.28
    Marker Score: 649
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: 0.27
    Marker Score: 1707
  • Cell Name: neuron (CL0000540)
    Fold Change: 0.25
    Marker Score: 1025
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.23
    Marker Score: 65
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.22
    Marker Score: 74
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 0.21
    Marker Score: 329
  • Cell Name: neuronal receptor cell (CL0000006)
    Fold Change: 0.19
    Marker Score: 86
  • Cell Name: connective tissue cell (CL0002320)
    Fold Change: 0.19
    Marker Score: 48
  • Cell Name: retinal ganglion cell (CL0000740)
    Fold Change: 0.18
    Marker Score: 227
  • Cell Name: smooth muscle cell (CL0000192)
    Fold Change: 0.16
    Marker Score: 108
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 0.16
    Marker Score: 96
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 0.16
    Marker Score: 67
  • Cell Name: podocyte (CL0000653)
    Fold Change: 0.15
    Marker Score: 57
  • Cell Name: CD8-positive, alpha-beta T cell (CL0000625)
    Fold Change: 0.15
    Marker Score: 249
  • Cell Name: megakaryocyte (CL0000556)
    Fold Change: 0.15
    Marker Score: 84
  • Cell Name: pericyte (CL0000669)
    Fold Change: 0.15
    Marker Score: 85
  • Cell Name: hematopoietic stem cell (CL0000037)
    Fold Change: 0.14
    Marker Score: 76
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.14
    Marker Score: 35
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.14
    Marker Score: 8606
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 0.14
    Marker Score: 1328
  • Cell Name: T-helper 22 cell (CL0001042)
    Fold Change: 0.14
    Marker Score: 599
  • Cell Name: myeloid leukocyte (CL0000766)
    Fold Change: 0.14
    Marker Score: 163
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 0.12
    Marker Score: 1265
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: 0.12
    Marker Score: 1146
  • Cell Name: vascular leptomeningeal cell (CL4023051)
    Fold Change: 0.12
    Marker Score: 139
  • Cell Name: T follicular helper cell (CL0002038)
    Fold Change: 0.12
    Marker Score: 100
  • Cell Name: ciliated epithelial cell (CL0000067)
    Fold Change: 0.12
    Marker Score: 54
  • Cell Name: endothelial cell of lymphatic vessel (CL0002138)
    Fold Change: 0.12
    Marker Score: 73
  • Cell Name: memory T cell (CL0000813)
    Fold Change: 0.12
    Marker Score: 50
  • Cell Name: central nervous system macrophage (CL0000878)
    Fold Change: 0.11
    Marker Score: 57
  • Cell Name: oligodendrocyte precursor cell (CL0002453)
    Fold Change: 0.11
    Marker Score: 134
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.11
    Marker Score: 70
  • Cell Name: endothelial cell (CL0000115)
    Fold Change: 0.1
    Marker Score: 87
  • Cell Name: neuroendocrine cell (CL0000165)
    Fold Change: 0.09
    Marker Score: 36
  • Cell Name: B cell (CL0000236)
    Fold Change: 0.09
    Marker Score: 85
  • Cell Name: mature B cell (CL0000785)
    Fold Change: 0.08
    Marker Score: 61
  • Cell Name: macrophage (CL0000235)
    Fold Change: 0.08
    Marker Score: 89
  • Cell Name: common lymphoid progenitor (CL0000051)
    Fold Change: 0.07
    Marker Score: 51
  • Cell Name: effector CD4-positive, alpha-beta T cell (CL0001044)
    Fold Change: 0.07
    Marker Score: 70
  • Cell Name: unswitched memory B cell (CL0000970)
    Fold Change: 0.07
    Marker Score: 43
  • Cell Name: CD4-positive, alpha-beta T cell (CL0000624)
    Fold Change: 0.07
    Marker Score: 161
  • Cell Name: plasmacytoid dendritic cell (CL0000784)
    Fold Change: 0.07
    Marker Score: 37
  • Cell Name: CD8-positive, alpha-beta memory T cell (CL0000909)
    Fold Change: 0.07
    Marker Score: 58
  • Cell Name: effector memory CD4-positive, alpha-beta T cell (CL0000905)
    Fold Change: 0.07
    Marker Score: 50
  • Cell Name: platelet (CL0000233)
    Fold Change: 0.06
    Marker Score: 29
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.06
    Marker Score: 15
  • Cell Name: double-positive, alpha-beta thymocyte (CL0000809)
    Fold Change: 0.06
    Marker Score: 121
  • Cell Name: CD4-positive helper T cell (CL0000492)
    Fold Change: 0.06
    Marker Score: 63
  • Cell Name: hepatocyte (CL0000182)
    Fold Change: 0.06
    Marker Score: 39

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Other Information

**Key characteristics:** - AIRE is a protein of the immunoglobulin superfamily. - It is expressed in a variety of cell types, including immune cells and stromal cells. - AIRE is a key regulator of central tolerance induction to self antigen. - It is a negative regulator of innate immune responses. - AIRE is a positive regulator of adaptive immune responses. **Pathways and functions:** - AIRE binds to DNA sequences involved in the regulation of gene expression. - It is involved in the induction of central tolerance. - It is involved in the regulation of adaptive immune responses. - AIRE is also involved in the regulation of inflammation. **Clinical significance:** - Mutations in the AIRE gene have been linked to a number of autoimmune diseases, including systemic sclerosis, lupus, and rheumatoid arthritis. - AIRE is a potential target for the treatment of autoimmune diseases. **Additional notes:** - AIRE is a highly conserved protein. - It is a member of the immunoglobulin superfamily of cell surface receptors. - AIRE is a multi-functional protein that can interact with a variety of cellular proteins.

Genular Protein ID: 2417797388

Symbol: AIRE_HUMAN

Name: Autoimmune regulator

UniProtKB Accession Codes:

O43918 B2RP50 O43922 O43932 O75745

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BMRB 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 2 CORUM 1 CTD 1 DIP 1 DNASU 1 DisGeNET 1 EMBL 13 EPD 1 Ensembl 1 EvolutionaryTrace 1 GO 23 Gene3D 2 GeneCards 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 11 KEGG 1 MANE-Select 1 MIM 4 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 2 OrthoDB 1 PANTHER 2 PDB 7 PDBsum 4 PRINTS 1 PRO 1 PROSITE 4 PROSITE-ProRule 3 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 3 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 RNAct 1 RefSeq 1 SAM 1 SIGNOR 1 SMART 2 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 TreeFam 1 UCSC 1 UniProtKB 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 neXtProt 1

Citations:

PubMed ID: 9398839

Title: Positional cloning of the APECED gene.

PubMed ID: 9398839

DOI: 10.1038/ng1297-393

PubMed ID: 9398840

Title: An autoimmune disease, APECED, caused by mutations in a novel gene featuring two PHD-type zinc-finger domains.

PubMed ID: 9398840

DOI: 10.1038/ng1297-399

PubMed ID: 10830953

Title: The DNA sequence of human chromosome 21.

PubMed ID: 10830953

DOI: 10.1038/35012518

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 9931333

Title: Localization of the APECED protein in distinct nuclear structures.

PubMed ID: 9931333

DOI: 10.1093/hmg/8.2.259

PubMed ID: 11533054

Title: The autoimmune regulator (AIRE) is a DNA-binding protein.

PubMed ID: 11533054

DOI: 10.1074/jbc.m104898200

PubMed ID: 10677297

Title: Mutations in the AIRE gene: effects on subcellular location and transactivation function of the autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy protein.

PubMed ID: 10677297

DOI: 10.1086/302765

PubMed ID: 11274163

Title: Subcellular localization of the autoimmune regulator protein. characterization of nuclear targeting and transcriptional activation domain.

PubMed ID: 11274163

DOI: 10.1074/jbc.m008322200

PubMed ID: 14974083

Title: APECED-causing mutations in AIRE reveal the functional domains of the protein.

PubMed ID: 14974083

DOI: 10.1002/humu.20003

PubMed ID: 18292755

Title: The autoimmune regulator PHD finger binds to non-methylated histone H3K4 to activate gene expression.

PubMed ID: 18292755

DOI: 10.1038/sj.embor.2008.11

PubMed ID: 19302042

Title: Aire.

PubMed ID: 19302042

DOI: 10.1146/annurev.immunol.25.022106.141532

PubMed ID: 23993652

Title: Extrathymic Aire-expressing cells are a distinct bone marrow-derived population that induce functional inactivation of CD4[?] T cells.

PubMed ID: 23993652

DOI: 10.1016/j.immuni.2013.08.005

PubMed ID: 26972725

Title: AIRE expands: new roles in immune tolerance and beyond.

PubMed ID: 26972725

DOI: 10.1038/nri.2016.9

PubMed ID: 15649886

Title: NMR structure of the first PHD finger of autoimmune regulator protein (AIRE1). Insights into autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) disease.

PubMed ID: 15649886

DOI: 10.1074/jbc.m413959200

PubMed ID: 19293276

Title: The solution structure of the first PHD finger of autoimmune regulator in complex with non-modified histone H3 tail reveals the antagonistic role of H3R2 methylation.

PubMed ID: 19293276

DOI: 10.1093/nar/gkp166

PubMed ID: 19446523

Title: Structure and site-specific recognition of histone H3 by the PHD finger of human autoimmune regulator.

PubMed ID: 19446523

DOI: 10.1016/j.str.2009.02.017

PubMed ID: 9888391

Title: Mutation analyses of North American APS-1 patients.

PubMed ID: 9888391

DOI: 10.1002/(sici)1098-1004(1999)13:1<69::aid-humu8>3.0.co;2-6

PubMed ID: 9717837

Title: Common mutations in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients of different origins.

PubMed ID: 9717837

DOI: 10.1210/mend.12.8.0143

PubMed ID: 11275943

Title: Identification of a novel mutation in the autoimmune regulator (AIRE-1) gene in a French family with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy.

PubMed ID: 11275943

DOI: 10.1530/eje.0.1440347

PubMed ID: 11524731

Title: APECED mutations in the autoimmune regulator (AIRE) gene.

PubMed ID: 11524731

DOI: 10.1002/humu.1176

PubMed ID: 11524733

Title: Novel AIRE mutations and P450 cytochrome autoantibodies in Central and Eastern European patients with APECED.

PubMed ID: 11524733

DOI: 10.1002/humu.1178

PubMed ID: 11600535

Title: A novel mutation of the autoimmune regulator gene in an Italian kindred with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy, acting in a dominant fashion and strongly cosegregating with hypothyroid autoimmune thyroiditis.

PubMed ID: 11600535

DOI: 10.1210/jcem.86.10.7884

PubMed ID: 12173302

Title: Distinct clinical phenotype and immunoreactivity in Japanese siblings with autoimmune polyglandular syndrome type 1 (APS-1) associated with compound heterozygous novel AIRE gene mutations.

PubMed ID: 12173302

DOI: 10.1006/clim.2002.5208

PubMed ID: 12625412

Title: A novel missense mutation of AIRE gene in a patient with autoimmune polyendocrinopathy, candidiasis and ectodermal dystrophy (APECED), accompanied with progressive muscular atrophy: case report and review of the literature in Japan.

PubMed ID: 12625412

DOI: 10.1507/endocrj.49.625

PubMed ID: 11836330

Title: Delineation of the molecular defects in the AIRE gene in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients from Southern Italy.

PubMed ID: 11836330

DOI: 10.1210/jcem.87.2.8209

PubMed ID: 12050215

Title: AIRE mutations and human leukocyte antigen genotypes as determinants of the autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy phenotype.

PubMed ID: 12050215

DOI: 10.1210/jcem.87.6.8564

PubMed ID: 15712268

Title: Two novel mutations of the AIRE protein affecting its homodimerization properties.

PubMed ID: 15712268

DOI: 10.1002/humu.9309

PubMed ID: 16114041

Title: Functional analysis of SAND mutations in AIRE supports dominant inheritance of the G228W mutation.

PubMed ID: 16114041

DOI: 10.1002/humu.20224

PubMed ID: 26084028

Title: Dominant mutations in the autoimmune regulator AIRE are associated with common organ-specific autoimmune diseases.

PubMed ID: 26084028

DOI: 10.1016/j.immuni.2015.04.021

PubMed ID: 27426947

Title: AIRE-deficient patients harbor unique high-affinity disease-ameliorating autoantibodies.

PubMed ID: 27426947

DOI: 10.1016/j.cell.2016.06.024

Sequence Information:

  • Length: 545
  • Mass: 57727
  • Checksum: 8CF703F8C9411BC5
  • Sequence:
    • MATDAALRRL LRLHRTEIAV AVDSAFPLLH ALADHDVVPE DKFQETLHLK EKEGCPQAFH 
ALLSWLLTQD STAILDFWRV LFKDYNLERY GRLQPILDSF PKDVDLSQPR KGRKPPAVPK 
ALVPPPRLPT KRKASEEARA AAPAALTPRG TASPGSQLKA KPPKKPESSA EQQRLPLGNG 
IQTMSASVQR AVAMSSGDVP GARGAVEGIL IQQVFESGGS KKCIQVGGEF YTPSKFEDSG 
SGKNKARSSS GPKPLVRAKG AQGAAPGGGE ARLGQQGSVP APLALPSDPQ LHQKNEDECA 
VCRDGGELIC CDGCPRAFHL ACLSPPLREI PSGTWRCSSC LQATVQEVQP RAEEPRPQEP 
PVETPLPPGL RSAGEEVRGP PGEPLAGMDT TLVYKHLPAP PSAAPLPGLD SSALHPLLCV 
GPEGQQNLAP GARCGVCGDG TDVLRCTHCA AAFHWRCHFP AGTSRPGTGL RCRSCSGDVT 
PAPVEGVLAP SPARLAPGPA KDDTASHEPA LHRDDLESLL SEHTFDGILQ WAIQSMARPA 
APFPS

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. For the full schema, download it here.