Details for: AIRE

Gene ID: 326

Symbol: AIRE

Ensembl ID: ENSG00000160224

Description: autoimmune regulator

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 9.1292
    Cell Significance Index: -1.4200
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 5.6773
    Cell Significance Index: -1.4400
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 4.0615
    Cell Significance Index: -1.6500
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 1.8889
    Cell Significance Index: 115.8100
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.5989
    Cell Significance Index: 113.9800
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.4132
    Cell Significance Index: 8.8000
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: 0.4106
    Cell Significance Index: 12.0600
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.3902
    Cell Significance Index: 38.6000
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: 0.3478
    Cell Significance Index: 5.8500
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.3090
    Cell Significance Index: 278.9800
  • Cell Name: mesangial cell (CL0000650)
    Fold Change: 0.2995
    Cell Significance Index: 3.7900
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.2540
    Cell Significance Index: 15.2500
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.2531
    Cell Significance Index: 27.5300
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.2465
    Cell Significance Index: 2.2600
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.2391
    Cell Significance Index: 6.8900
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.2046
    Cell Significance Index: 33.2800
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.1886
    Cell Significance Index: 2.3900
  • Cell Name: thymocyte (CL0000893)
    Fold Change: 0.1840
    Cell Significance Index: 2.3300
  • Cell Name: photoreceptor cell (CL0000210)
    Fold Change: 0.1581
    Cell Significance Index: 2.2200
  • Cell Name: retinal blood vessel endothelial cell (CL0002585)
    Fold Change: 0.1416
    Cell Significance Index: 1.8300
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.1381
    Cell Significance Index: 1.4300
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.1285
    Cell Significance Index: 8.8900
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.1182
    Cell Significance Index: 2.5600
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.1167
    Cell Significance Index: 5.2900
  • Cell Name: medullary thymic epithelial cell (CL0002365)
    Fold Change: 0.1143
    Cell Significance Index: 1.2500
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 0.0694
    Cell Significance Index: 1.4400
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.0544
    Cell Significance Index: 37.6200
  • Cell Name: myometrial cell (CL0002366)
    Fold Change: 0.0495
    Cell Significance Index: 0.5700
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0211
    Cell Significance Index: 0.7400
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.0198
    Cell Significance Index: 1.0300
  • Cell Name: squamous epithelial cell (CL0000076)
    Fold Change: 0.0140
    Cell Significance Index: 0.1700
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: 0.0063
    Cell Significance Index: 0.1800
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.0058
    Cell Significance Index: 0.7400
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.0056
    Cell Significance Index: 0.1800
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.0032
    Cell Significance Index: 0.6500
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.0032
    Cell Significance Index: 0.0800
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.0027
    Cell Significance Index: 0.9700
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0002
    Cell Significance Index: -0.0300
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0004
    Cell Significance Index: -0.7500
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0007
    Cell Significance Index: -1.2100
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0008
    Cell Significance Index: -1.2800
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0010
    Cell Significance Index: -0.5400
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0011
    Cell Significance Index: -1.4300
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.0014
    Cell Significance Index: -0.0200
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0018
    Cell Significance Index: -1.3800
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0019
    Cell Significance Index: -1.4200
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0019
    Cell Significance Index: -1.0200
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0021
    Cell Significance Index: -1.5600
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0024
    Cell Significance Index: -1.5100
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0030
    Cell Significance Index: -1.3800
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0037
    Cell Significance Index: -0.7700
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: -0.0038
    Cell Significance Index: -0.7500
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: -0.0040
    Cell Significance Index: -0.0500
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0041
    Cell Significance Index: -1.1800
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.0049
    Cell Significance Index: -0.1300
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.0050
    Cell Significance Index: -0.1600
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: -0.0063
    Cell Significance Index: -1.1400
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0084
    Cell Significance Index: -1.2200
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0085
    Cell Significance Index: -1.4500
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.0111
    Cell Significance Index: -1.2900
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0113
    Cell Significance Index: -1.3000
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.0116
    Cell Significance Index: -0.5400
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.0124
    Cell Significance Index: -1.5300
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: -0.0133
    Cell Significance Index: -0.2000
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0142
    Cell Significance Index: -1.4600
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.0149
    Cell Significance Index: -1.7600
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.0167
    Cell Significance Index: -1.0800
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.0171
    Cell Significance Index: -0.8900
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.0178
    Cell Significance Index: -1.2000
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.0186
    Cell Significance Index: -0.6500
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: -0.0192
    Cell Significance Index: -0.8300
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: -0.0192
    Cell Significance Index: -0.4800
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.0192
    Cell Significance Index: -0.9700
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.0198
    Cell Significance Index: -1.2200
  • Cell Name: microcirculation associated smooth muscle cell (CL0008035)
    Fold Change: -0.0202
    Cell Significance Index: -0.1700
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: -0.0210
    Cell Significance Index: -0.3200
  • Cell Name: L2/3 intratelencephalic projecting glutamatergic neuron (CL4030059)
    Fold Change: -0.0218
    Cell Significance Index: -0.2900
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.0221
    Cell Significance Index: -0.6500
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.0225
    Cell Significance Index: -1.2600
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.0235
    Cell Significance Index: -0.6400
  • Cell Name: epithelial cell of uterus (CL0002149)
    Fold Change: -0.0238
    Cell Significance Index: -0.3300
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.0246
    Cell Significance Index: -1.0900
  • Cell Name: L4 intratelencephalic projecting glutamatergic neuron (CL4030063)
    Fold Change: -0.0255
    Cell Significance Index: -0.2800
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.0259
    Cell Significance Index: -1.0600
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: -0.0269
    Cell Significance Index: -0.3900
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.0276
    Cell Significance Index: -0.7900
  • Cell Name: GABAergic neuron (CL0000617)
    Fold Change: -0.0293
    Cell Significance Index: -0.3700
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.0298
    Cell Significance Index: -1.4000
  • Cell Name: fibroblast of connective tissue of nonglandular part of prostate (CL1000304)
    Fold Change: -0.0307
    Cell Significance Index: -0.3400
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.0308
    Cell Significance Index: -0.4200
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.0317
    Cell Significance Index: -1.2000
  • Cell Name: CD4-positive, alpha-beta thymocyte (CL0000810)
    Fold Change: -0.0336
    Cell Significance Index: -0.5800
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.0351
    Cell Significance Index: -1.1500
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.0363
    Cell Significance Index: -0.7600
  • Cell Name: glutamatergic neuron (CL0000679)
    Fold Change: -0.0367
    Cell Significance Index: -0.4000
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.0369
    Cell Significance Index: -0.7300
  • Cell Name: helper T cell (CL0000912)
    Fold Change: -0.0373
    Cell Significance Index: -0.5300
  • Cell Name: OFF midget ganglion cell (CL4033047)
    Fold Change: -0.0377
    Cell Significance Index: -0.4700
  • Cell Name: mature alpha-beta T cell (CL0000791)
    Fold Change: -0.0403
    Cell Significance Index: -0.2200
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: -0.0403
    Cell Significance Index: -0.8200

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** AIRE is a zinc finger transcription factor that belongs to the POZ family of proteins. It is primarily expressed in the thymus, particularly in mTECs, and to a lesser extent in other tissues such as the brain, kidney, and intestinal epithelium. AIRE has a unique ability to bind to specific DNA sequences, facilitating the expression of self-antigens in the context of the thymus. This allows mTECs to present self-antigens to T cells, which are then eliminated if they recognize these antigens as foreign. **Pathways and Functions:** AIRE's primary function is to regulate the expression of self-antigens in the thymus, which is essential for central tolerance induction. This process involves the following pathways: 1. **Histone modification**: AIRE interacts with histone-modifying enzymes to modify histone marks, allowing for the activation of self-antigen expression. 2. **DNA binding**: AIRE binds to specific DNA sequences, including the AIRE-binding site, to regulate the expression of self-antigens. 3. **Transcriptional regulation**: AIRE regulates the expression of self-antigens by interacting with RNA polymerase II and other transcription factors. 4. **Immune tolerance**: AIRE's expression in mTECs ensures that autoreactive T cells are eliminated, preventing autoimmune responses against self-antigens. **Clinical Significance:** Dysregulation of AIRE has been implicated in various autoimmune diseases, including: 1. **Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED)**: A rare autoimmune disorder caused by mutations in the AIRE gene. 2. **Autoimmune thyroid disease**: AIRE's expression in the thymus has been linked to the development of autoimmune thyroiditis. 3. **Type 1 diabetes**: AIRE's dysregulation may contribute to the autoimmune destruction of pancreatic beta cells. In summary, AIRE is a critical gene that plays a pivotal role in maintaining immune tolerance and preventing autoimmune diseases. Its dysregulation can lead to the development of autoimmune disorders, highlighting the importance of AIRE in immune homeostasis.

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 Ensembl 1 EvolutionaryTrace 1 GO 23 Gene3D 2 GeneCards 1 GeneTree 1 GeneWiki 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 4 PDBsum 4 PRINTS 1 PRO 1 PROSITE 4 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 3 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 RNAct 1 RefSeq 1 SIGNOR 1 SMART 2 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 TreeFam 1 UCSC 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. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.