Aliases for AIRE Gene
Aliases for AIRE Gene
External Ids for AIRE Gene
- HGNC: 360
- Entrez Gene: 326
- Ensembl: ENSG00000160224
- OMIM: 607358
- UniProtKB: O43918
Previous HGNC Symbols for AIRE Gene
- APECED
Previous GeneCards Identifiers for AIRE Gene
- GC21P042215
- GC21P044563
- GC21P044561
- GC21P044530
- GC21P045705
- GC21P031076
Summaries for AIRE Gene
-
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]
GeneCards Summary for AIRE Gene
AIRE (Autoimmune Regulator) is a Protein Coding gene. Diseases associated with AIRE include Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia and Hypoparathyroidism, Familial Isolated. Among its related pathways are Ubiquitin mediated proteolysis and Primary immunodeficiency. Gene Ontology (GO) annotations related to this gene include identical protein binding and transcription regulatory region DNA binding. An important paralog of this gene is PHF12.
UniProtKB/Swiss-Prot for AIRE Gene
-
Transcription factor playing an essential role to promote self-tolerance in the thymus by regulating the expression of a wide array of self-antigens that have the commonality of being tissue-restricted in their expression pattern in the periphery, called tissue restricted antigens (TRA) (PubMed:26084028). Binds to G-doublets in an A/T-rich environment; the preferred motif is a tandem repeat of 5-ATTGGTTA-3 combined with a 5-TTATTA-3 box. Binds to nucleosomes (By similarity). Binds to chromatin and interacts selectively with histone H3 that is not methylated at Lys-4, not phosphorylated at Thr-3 and not methylated at Arg-2. Functions as a sensor of histone H3 modifications that are important for the epigenetic regulation of gene expression. Mainly expressed by medullary thymic epithelial cells (mTECs), induces the expression of thousands of tissue-restricted proteins, which are presented on major histocompatibility complex class I (MHC-I) and MHC-II molecules to developing T-cells percolating through the thymic medulla (PubMed:26084028). Also induces self-tolerance through other mechanisms such as the regulation of the mTEC differentiation program. Controls the medullary accumulation of thymic dendritic cells and the development of regulatory T-cell through the regulation of XCL1 expression. Regulates the production of CCR4 and CCR7 ligands in medullary thymic epithelial cells and alters the coordinated maturation and migration of thymocytes. In thimic B-cells, allows the presentation of licensing-dependent endogenous self-anitgen for negative selection. In secondary lymphoid organs, induces functional inactivation of CD4(+) T-cells. Expressed by a distinct bone marrow-derived population, induces self-tolerance through a mechanism that does not require regulatory T-cells and is resitant to innate inflammatory stimuli (By similarity).
Additional gene information for AIRE Gene
- Monarch Initiative
- Search for AIRE at DataMed
- Search for AIRE at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AIRE Gene
Genomics for AIRE Gene
GeneHancer (GH) Regulatory Elements for AIRE Gene
Promoters and enhancers for AIRE Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)
GeneHancers around AIRE on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the AIRE gene promoter:
-
- AP-1
- ATF-2
Regulatory Element Products
Genomic Locations for AIRE Gene
Genomic Locations for AIRE Gene
- chr21:44,285,838-44,298,648
- (GRCh38/hg38)
- Size:
- 12,811 bases
- Orientation:
- Plus strand
- chr21:45,705,721-45,718,531
- (GRCh37/hg19)
- Size:
- 12,811 bases
- Orientation:
- Plus strand
Genomic View for AIRE Gene
Genes around AIRE on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 21q22.3 by Entrez Gene
- 21q22.3 by HGNC
- 21q22.3 by Ensembl
AIRE Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for AIRE Gene
Proteins for AIRE Gene
-
Protein details for AIRE Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- O43918-AIRE_HUMAN
- Recommended name:
- Autoimmune regulator
- Protein Accession:
- O43918
- B2RP50
- O43922
- O43932
- O75745
Protein attributes for AIRE Gene
- Size:
- 545 amino acids
- Molecular mass:
- 57727 Da
- Quaternary structure:
-
- Homodimer and homotetramer. Interacts with CREBBP. Interacts preferentially with histone H3 that is not methylated at Lys-4. Binds with lower affinity to histone H3 that is monomethylated at Lys-4. Trimethylation of histone H3 at Lys-4 or phosphorylation at Thr-3 abolish the interaction. Binds with lower affinity to histone H3 that is acetylated at Lys-4, or that is acetylated at Lys-9 or trimethylated at Lys-9. Binds histone H3 that is dimethylated at Arg-2 with very low affinity.
Three dimensional structures from OCA and Proteopedia for AIRE Gene
Protein Expression for AIRE Gene
Post-translational modifications for AIRE Gene
- Phosphorylated. Phosphorylation could trigger oligomerization.
- Modification sites at PhosphoSitePlus
- Modification sites at neXtProt
Other Protein References for AIRE Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- R&D Systems Antibodies for AIRE (Autoimmune Regulator/AIRE)
-
Custom Antibody ServicesOriGene Antibodies for AIRE
- Novus Biologicals Antibodies for AIRE
-
Abcam antibodies for AIRE
- Invitrogen Antibodies for AIRE (AFLGC-AIRE)
- GeneTex AIRE Antibody for AIRE
-
Santa Cruz Biotechnology (SCBT) Antibodies for AIRE
Protein Products
-
OriGene Purified Proteins for AIRE
- Search Origene for MassSpec and Protein Over-expression Lysates for AIRE
- Origene Custom Protein Services for AIRE
- Search GeneTex for Proteins for AIRE
-
Abcam proteins for AIRE
No data available for DME Specific Peptides for AIRE Gene
Domains & Families for AIRE Gene
Gene Families for AIRE Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Predicted intracellular proteins
- Transcription factors
Protein Domains for AIRE Gene
Suggested Antigen Peptide Sequences for AIRE Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
O43918UniProtKB/Swiss-Prot:
AIRE_HUMAN :- The L-X-X-L-L repeats may be implicated in binding to nuclear receptors.
- Domain:
-
- The L-X-X-L-L repeats may be implicated in binding to nuclear receptors.
- The HSR domain is required for localization on tubular structures (N-terminal part) and for homodimerization.
- Interacts via the first PHD domain with the N-terminus of histone H3 that is not methylated at Lys-4. Disruption of the first PHD domain has been shown to lead to reduced transcriptional activity and to localization of the protein mainly in the cytoplasm in small granules. While the PHD zinc fingers are necessary for the transactivation capacity of the protein, other regions also modulate this function.
Function for AIRE Gene
Molecular function for AIRE Gene
- UniProtKB/Swiss-Prot Function:
- Transcription factor playing an essential role to promote self-tolerance in the thymus by regulating the expression of a wide array of self-antigens that have the commonality of being tissue-restricted in their expression pattern in the periphery, called tissue restricted antigens (TRA) (PubMed:26084028). Binds to G-doublets in an A/T-rich environment; the preferred motif is a tandem repeat of 5-ATTGGTTA-3 combined with a 5-TTATTA-3 box. Binds to nucleosomes (By similarity). Binds to chromatin and interacts selectively with histone H3 that is not methylated at Lys-4, not phosphorylated at Thr-3 and not methylated at Arg-2. Functions as a sensor of histone H3 modifications that are important for the epigenetic regulation of gene expression. Mainly expressed by medullary thymic epithelial cells (mTECs), induces the expression of thousands of tissue-restricted proteins, which are presented on major histocompatibility complex class I (MHC-I) and MHC-II molecules to developing T-cells percolating through the thymic medulla (PubMed:26084028). Also induces self-tolerance through other mechanisms such as the regulation of the mTEC differentiation program. Controls the medullary accumulation of thymic dendritic cells and the development of regulatory T-cell through the regulation of XCL1 expression. Regulates the production of CCR4 and CCR7 ligands in medullary thymic epithelial cells and alters the coordinated maturation and migration of thymocytes. In thimic B-cells, allows the presentation of licensing-dependent endogenous self-anitgen for negative selection. In secondary lymphoid organs, induces functional inactivation of CD4(+) T-cells. Expressed by a distinct bone marrow-derived population, induces self-tolerance through a mechanism that does not require regulatory T-cells and is resitant to innate inflammatory stimuli (By similarity).
- GENATLAS Biochemistry:
- autoimmune regulator gene with three alternatively spliced isoforms,expressed in immunological tissues,also expressed in the cytoplasm,located in nuclear bodies separated from the PML bodies and colocalizing with cytoskeletal filaments,may be involved in the regulation of gene expression
Phenotypes From GWAS Catalog for AIRE Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000977 | RNA polymerase II regulatory region sequence-specific DNA binding | IDA | 11533054 |
| GO:0000981 | RNA polymerase II transcription factor activity, sequence-specific DNA binding | NAS | 19274049 |
| GO:0001228 | transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific DNA binding | IC | -- |
| GO:0003677 | DNA binding | IEA | -- |
| GO:0003682 | chromatin binding | IDA | 18292755 |
Phenotypes for AIRE Gene
- MGI mutant phenotypes for AIRE:
-
inferred from 10 alleles
- respiratory system phenotype
- vision/eye phenotype
- digestive/alimentary phenotype
- homeostasis/metabolism phenotype
- nervous system phenotype
- behavior/neurological phenotype
- no phenotypic analysis
- neoplasm
- endocrine/exocrine gland phenotype
- mortality/aging
- liver/biliary system phenotype
- reproductive system phenotype
- normal phenotype
- hematopoietic system phenotype
- immune system phenotype
- growth/size/body region phenotype
- GenomeRNAi human phenotypes for AIRE:
-
- Increased shRNA abundance (Z-score > 2)
- Negative genetic interaction between PTTG1-/- and PTTG1+/+
- Negative genetic interaction between KRASG13D/+ and KRAS+/-
- Decreased viability in esophageal squamous lineage
- Decreased viability
- no effect
- Decreased Aire reporter expression
- Increased vaccinia virus (VACV) infection
- Mildly decreased CFP-tsO45G cell surface transport
- Decreased viability after Maraba virus infection
- Decreased shRNA abundance (Z-score < -2)
- shRNA abundance <= 50%
- Decreased IL-8 secretion
- Lamellipodia cells
Animal Models for AIRE Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for AIRE
-
CRISPR Products
-
OriGene CRISPR knockouts for AIRE
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for AIRE
- genomics-online: gRNA clones - Search results for 92 available AIRE gene related products
- Overview of 92 available AIRE gene related products
-
Recommended
- Applied Biological Materials CRISPR for AIRE
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for AIRE
- GenScript: Design CRISPR guide RNA sequences for AIRE
miRNA for AIRE Gene
- miRTarBase miRNAs that target AIRE
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for AIRE
- Browse OriGene Inhibitory RNA Products For AIRE
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AIRE
- genomics-online: shRNA clones - Search results for 92 available AIRE gene related products
- Overview of 92 available AIRE gene related products
-
Recommended
Clone Products
- Sino Biological Human cDNA Clone for AIRE
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for AIRE
- genomics-online: cdna clones - Search results for 92 available AIRE gene related products
- Overview of 92 available AIRE gene related products
-
Recommended
- orf clones - Search results for 92 available AIRE gene related products
- Overview of 92 available AIRE gene related products
-
Recommended
- Applied Biological Materials Clones for AIRE
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for AIRE
No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for AIRE Gene
Localization for AIRE Gene
Subcellular locations from UniProtKB/Swiss-Prot for AIRE Gene
- Nucleus. Cytoplasm. Note=Predominantly nuclear but also cytoplasmic (PubMed:11274163, PubMed:14974083). Found in nuclear body-like structures (dots) and in a filamentous vimentin-like pattern (PubMed:11274163, PubMed:14974083, PubMed:26084028). Associated with tubular structures (PubMed:11274163, PubMed:14974083). {ECO:0000269 PubMed:11274163, ECO:0000269 PubMed:14974083, ECO:0000269 PubMed:26084028}.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| extracellular | 2 |
| cytosol | 2 |
| plasma membrane | 1 |
| mitochondrion | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005622 | intracellular | IEA | -- |
| GO:0005634 | nucleus | TAS,NAS | 9398840 |
| GO:0005737 | cytoplasm | IEA | -- |
| GO:0016604 | nuclear body | ISS,IEA | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for AIRE Gene
Pathways & Interactions for AIRE Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Primary immunodeficiency | ||
| 2 | Ubiquitin mediated proteolysis | ||
Pathways by source for AIRE Gene
2 KEGG pathways for AIRE Gene
Interacting Proteins for AIRE Gene
Selected Interacting proteins:
O43918-AIRE_HUMAN
ENSP00000291582
for AIRE Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for AIRE
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0002458 | peripheral T cell tolerance induction | ISS,IEA | -- |
| GO:0002509 | central tolerance induction to self antigen | IMP | 26084028 |
| GO:0006351 | transcription, DNA-templated | IEA | -- |
| GO:0006355 | regulation of transcription, DNA-templated | IEA,IDA | 18292755 |
| GO:0006366 | transcription by RNA polymerase II | IEA | -- |
No data available for SIGNOR curated interactions for AIRE Gene
Transcripts for AIRE Gene
mRNA/cDNA for AIRE Gene
- (3) REFSEQ mRNAs :
- (5) Additional mRNA sequences :
- (13) Selected AceView cDNA sequences:
- (5) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000530812 4306 bps (uc062ari.1)
- ENST00000527919 2409 bps (uc062arj.1)
- ENST00000291582 2257 bps (uc002zei.4)
- ENST00000397994 1279 bps (uc062arl.1)
- ENST00000337909 1361 bps (uc062ark.1)
CRISPR Products
-
OriGene CRISPR knockouts for AIRE
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for AIRE
- genomics-online: gRNA clones - Search results for 92 available AIRE gene related products
- Overview of 92 available AIRE gene related products
-
Recommended
- Applied Biological Materials CRISPR for AIRE
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for AIRE
- GenScript: Design CRISPR guide RNA sequences for AIRE
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for AIRE
- Browse OriGene Inhibitory RNA Products For AIRE
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AIRE
- genomics-online: shRNA clones - Search results for 92 available AIRE gene related products
- Overview of 92 available AIRE gene related products
-
Recommended
Clone Products
- Sino Biological Human cDNA Clone for AIRE
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for AIRE
- genomics-online: cdna clones - Search results for 92 available AIRE gene related products
- Overview of 92 available AIRE gene related products
-
Recommended
- orf clones - Search results for 92 available AIRE gene related products
- Overview of 92 available AIRE gene related products
-
Recommended
- Applied Biological Materials Clones for AIRE
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| ExUns: | 1 | ^ | 2a | · | 2b | ^ | 3a | · | 3b | · | 3c | ^ | 4 | ^ | 5a | · | 5b | ^ | 6 | ^ | 7 | ^ | 8a | · | 8b | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | |||||||||||||||||||||||||||||||||||||
| SP2: | |||||||||||||||||||||||||||||||||||||||
| SP3: | |||||||||||||||||||||||||||||||||||||||
| SP4: | |||||||||||||||||||||||||||||||||||||||
| SP5: |
Expression for AIRE Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Epiblast (Early Embryonic Tissues)
- Epiblast Cells Epiblast
mRNA differential expression in normal tissues according to GTEx for AIRE Gene
This gene is overexpressed in Brain - Hypothalamus (x10.5) and Brain - Anterior cingulate cortex (BA24) (x4.2).
This gene is overexpressed in Peripheral blood mononuclear cells (69.0).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for AIRE Gene
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of AIRE Gene:
AIRESOURCE GeneReport for Unigene cluster for AIRE Gene:
Hs.129829mRNA Expression by UniProt/SwissProt for AIRE Gene:
O43918-AIRE_HUMAN
Tissue specificity:
Widely expressed. Expressed at higher level in thymus (medullary epithelial cells and monocyte-dendritic cells), pancreas, adrenal cortex and testis. Expressed at lower level in the spleen, fetal liver and lymph nodes. In secondary lymphoid organs, expressed in a discrete population of bone marrow-derived toleregenic antigen presenting cells (APCs) called extrathymic AIRE expressing cells (eTAC)(at protein level) (PubMed:23993652). Isoform 2 and isoform 3 seem to be less frequently expressed than isoform 1, if at all.
Evidence on tissue expression from TISSUES for AIRE Gene
- Blood(2.3)
- Kidney(2.2)
- Thyroid gland(2.1)
- Spleen(2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for AIRE Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- digestive
- endocrine
- immune
- integumentary
- lymphatic
- nervous
- reproductive
- skeletal muscle
- skeleton
- urinary
Regions:
Head and neck:
- brain
- cranial nerve
- ear
- eye
- eyelid
- head
- jaw
- mandible
- maxilla
- mouth
- neck
- skull
- tooth
Thorax:
- chest wall
- clavicle
- heart
- rib
- rib cage
- scapula
- sternum
Abdomen:
- abdominal wall
- adrenal gland
- biliary tract
- gallbladder
- intestine
- kidney
- large intestine
- liver
- pancreas
- small intestine
- spleen
- stomach
Pelvis:
- ovary
- pelvis
- uterus
Limb:
- ankle
- arm
- digit
- elbow
- femur
- fibula
- finger
- foot
- forearm
- hand
- hip
- humerus
- knee
- lower limb
- nail
- radius
- shin
- shoulder
- thigh
- tibia
- toe
- ulna
- upper limb
- wrist
General:
- blood
- blood vessel
- hair
- peripheral nerve
- peripheral nervous system
- red blood cell
- skin
- spinal column
- vertebrae
- white blood cell
Primer Products
-
OriGene qPCR primer pairs for AIRE
- genomics-online: primer clones - Search results for 92 available AIRE gene related products
- Overview of 92 available AIRE gene related products
-
Recommended
Gene Expression Assay Products
Orthologs for AIRE Gene
This gene was present in the common ancestor of animals and fungi.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | AIRE 34 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | AIRE 34 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | AIRE 34 33 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Aire 16 34 33 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Aire 33 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | AIRE 34 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | AIRE 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | AIRE 34 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | AIRE 34 |
|
OneToOne | |
| zebrafish (Danio rerio) |
Actinopterygii | aire 34 33 |
|
OneToOne | |
| fruit fly (Drosophila melanogaster) |
Insecta | bon 34 |
|
OneToOne | |
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | RCO1 36 |
|
|
|
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 34 |
|
OneToOne |
- Species where no ortholog for AIRE was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- fission yeast (Schizosaccharomyces pombe)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- K. lactis yeast (Kluyveromyces lactis)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- rainbow trout (Oncorhynchus mykiss)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- thale cress (Arabidopsis thaliana)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- tropical clawed frog (Silurana tropicalis)
- wheat (Triticum aestivum)
- worm (Caenorhabditis elegans)
Evolution for AIRE Gene
- ENSEMBL:
- Gene Tree for AIRE (if available)
- TreeFam:
- Gene Tree for AIRE (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for AIRE: view image
Paralogs for AIRE Gene
(22) SIMAP similar genes for AIRE Gene using alignment to 4 proteins:
- AIRE_HUMAN
- A5A8N0_HUMAN
- C9JFR1_HUMAN
- C9JL37_HUMAN
Variants for AIRE Gene
| SNP ID | Clin | Chr 21 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1057516225 | likely-pathogenic, Polyglandular autoimmune syndrome, type 1 | 44,286,679(+) | C/A | coding_sequence_variant, stop_gained | |
| rs1057516272 | likely-pathogenic, Polyglandular autoimmune syndrome, type 1 | 44,286,581(+) | G/T | coding_sequence_variant, stop_gained | |
| rs1057516314 | likely-pathogenic, Polyglandular autoimmune syndrome, type 1 | 44,287,127(+) | AG/C | coding_sequence_variant, frameshift | |
| rs1057516411 | likely-pathogenic, Polyglandular autoimmune syndrome, type 1 | 44,293,013(+) | GG/ | coding_sequence_variant, frameshift | |
| rs1057516499 | likely-pathogenic, Polyglandular autoimmune syndrome, type 1 | 44,286,657(+) | G/A | coding_sequence_variant, stop_gained |
Residual Variation Intolerance Score:
96.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
3.18;
51.89% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for AIRE Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AIRE Gene
Disorders for AIRE Gene
(43) MalaCards diseases for AIRE Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| autoimmune polyendocrine syndrome, type i, with or without reversible metaphyseal dysplasia |
|
|
| hypoparathyroidism, familial isolated |
|
|
| candidiasis |
|
|
| autoimmune polyendocrine syndrome |
|
|
| autoimmune polyendocrine syndrome type 1 |
|
|
Search AIRE in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
AIRE_HUMAN- Autoimmune polyendocrine syndrome 1, with or without reversible metaphyseal dysplasia (APS1) [MIM:240300]: A rare disease characterized by the combination of chronic mucocutaneous candidiasis, hypoparathyroidism and Addison disease. Symptoms of mucocutaneous candidiasis manifest first, followed by hypotension or fatigue occurring as a result of Addison disease. APS1 is associated with other autoimmune disorders including diabetes mellitus, vitiligo, alopecia, hepatitis, pernicious anemia and primary hypothyroidism. {ECO:0000269 PubMed:10677297, ECO:0000269 PubMed:11274163, ECO:0000269 PubMed:11275943, ECO:0000269 PubMed:11524731, ECO:0000269 PubMed:11524733, ECO:0000269 PubMed:11600535, ECO:0000269 PubMed:11836330, ECO:0000269 PubMed:12050215, ECO:0000269 PubMed:12173302, ECO:0000269 PubMed:12625412, ECO:0000269 PubMed:14974083, ECO:0000269 PubMed:15649886, ECO:0000269 PubMed:15712268, ECO:0000269 PubMed:16114041, ECO:0000269 PubMed:18292755, ECO:0000269 PubMed:19446523, ECO:0000269 PubMed:26084028, ECO:0000269 PubMed:27426947, ECO:0000269 PubMed:9398839, ECO:0000269 PubMed:9888391}. Note=The disease is caused by mutations affecting the gene represented in this entry. Most of the mutations alter the nucleus-cytoplasm distribution of AIRE and disturb its association with nuclear dots and cytoplasmic filaments. Most of the mutations also decrease transactivation of the protein. The HSR domain is responsible for the homomultimerization activity of AIRE. All the missense mutations of the HSR and the SAND domains decrease this activity, but those in other domains do not. The AIRE protein is present in soluble high-molecular-weight complexes. Mutations in the HSR domain and deletion of PHD zinc fingers disturb the formation of these complexes (PubMed:14974083). Heterozygous mutations within the PHD1 domain have dominant-negatif effects and cause organ-specific autoimmune diseases (PubMed:26084028). Patients harbor extremely high-affinity, neutralizing autoantibodies, particularly against specific cytokines such as type I interferons which could protect them from some types of autoimmune diseases, like type I diabetes (PubMed:27426947). {ECO:0000269 PubMed:14974083, ECO:0000269 PubMed:26084028, ECO:0000269 PubMed:27426947}.
Additional Disease Information for AIRE
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for AIRE Gene
Publications for AIRE Gene
- Evaluation of the autoimmune regulator (AIRE) gene mutations in a cohort of Italian patients with autoimmune-polyendocrinopathy-candidiasis-ectodermal-dystrophy (APECED) and in their relatives. (PMID: 18616706) Cervato S … Betterle C (Clinical endocrinology 2009) 3 22 44 58
- AIRE gene analysis in children with autoimmune hepatitis type I or II. (PMID: 19322061) Lankisch TO … Jacquemin E (Journal of pediatric gastroenterology and nutrition 2009) 3 22 44 58
- Structure and site-specific recognition of histone H3 by the PHD finger of human autoimmune regulator. (PMID: 19446523) Chakravarty S … Zhou MM (Structure (London, England : 1993) 2009) 3 4 22 58
- Genetic analysis of autoimmune regulator haplotypes in alopecia areata. (PMID: 18194361) Wengraf DA … Tazi-Ahnini R (Tissue antigens 2008) 3 22 44 58
- AIRE variations in Addison's disease and autoimmune polyendocrine syndromes (APS): partial gene deletions contribute to APS I. (PMID: 18200029) Bøe Wolff AS … Knappskog PM (Genes and immunity 2008) 3 22 44 58
Products for AIRE Gene
- R&D Systems Antibodies for AIRE (Autoimmune Regulator/AIRE)
- Browse R&D Systems for Human Recombinant Proteins
- Browse R&D Systems for biochemical assays
- Browse Human Proteins and Enzymes
- Browse Primary Antibodies
- Browse Proteins and Enzymes
- Browse ELISAs
- Browse Activity Assays
- Browse cDNA Clones
- Browse Cell Culture Products
- Browse Cell Selection and Detection Kits
- Browse DNA Damage and Repair Kits
- Browse ELISpot/FluoroSpot Kits and Development Modules
- Browse Flow Cytometry Kits
- Browse Immunoprecipitation Assays
- Browse Luminex Assays
- Browse Peptides
- Browse Proteome Profiler Antibody Arrays
- Browse Small Molecules
- Custom Antibody ServicesOriGene Antibodies for AIRE
- Browse OriGene ELISA Kits
- Custom Assay Services
- OriGene Purified Proteins for AIRE
- Search Origene for MassSpec and Protein Over-expression Lysates for AIRE
- Origene Custom Protein Services for AIRE
- Origene shrna, sirna, and RNAi products in human, mouse, rat for AIRE
- Browse OriGene Inhibitory RNA Products For AIRE
- OriGene qPCR primer pairs for AIRE
- OriGene CRISPR knockouts for AIRE
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For AIRE
- GenScript: Next-day shipping of latest version cDNA ORF clones for AIRE in any vector
- GenScript Custom Purified and Recombinant Proteins Services for AIRE
- GenScript Custom Assay Services for AIRE
- GenScript Custom overexpressing Cell Line Services for AIRE
- GenScript: Design CRISPR guide RNA sequences for AIRE
- Design optimal peptide antigens
- CloneReady with Over 120,000 Genes
- Gene Synthesis: Any Gene in Any Vector
- Vector-based siRNA and miRNA, Ready for Transfection
- Gene Mutant Library, Variants up to 10^11
- Plasmid Preparation
- GenScript Custom Peptide Services for AIRE
- Sino Biological Human cDNA Clone for AIRE
- Browse Sino Biological Recombinant Proteins
- Browse Sino Biological Cell Lysates
- Browse Sino Biological Antibodies
- Browse Sino Biological Assays
- Browse cDNA Clones
- Browse ELISA Kits
- Browse CRO Services
- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Novus Biologicals Antibodies for AIRE
- Novus Biologicals ELISA Kits for AIRE
- Novus Biologicals
- Novus Biologicals Tissue Microarrays
- Browse Antibodies
- Browse Peptides and Proteins
- Browse Lysates
- Browse ELISA Kits
- Abcam antibodies for AIRE
- Abcam proteins for AIRE
- Find your target
- Browse Primary Antibodies
- Browse Conjugated Primary Antibodies
- Browse Secondary Antibodies
- Browse ELISA Kits
- Browse Matched Antibody Pairs
- Browse Proteins and Peptides
- Search Knockout (KO) Validated Antibodies
- Browse Monoclonal Antibodies
- Browse Recombinant Antibodies
- Invitrogen Antibodies for AIRE (AFLGC-AIRE)
- Cyagen custom Knockout/knockin (KOKI) mouse models for AIRE
- antibodies-online: Search results for 174 available AIRE Antibodies ranked by validation data
- Compare Top AIRE Antibodies
- antibodies-online: Search results for 37 available AIRE Elisa Kits ranked by validation data
- Compare Top AIRE Elisa Kits
- antibodies-online: Search results for 3 available AIRE Proteins ranked by validation data
- Compare Top AIRE Proteins
- GeneTex AIRE Antibody for AIRE
- Search GeneTex for Proteins for AIRE
- Santa Cruz Biotechnology (SCBT) Antibodies for AIRE
- Search Santa Cruz Biotechnology (SCBT) for AIRE siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for AIRE
- Horizon Cell Lines for AIRE
- genomics-online: cdna clones - Search results for 92 available AIRE gene related products
- Overview of 92 available AIRE gene related products
- Recommended
- orf clones - Search results for 92 available AIRE gene related products
- Overview of 92 available AIRE gene related products
- Recommended
- genomics-online: gRNA clones - Search results for 92 available AIRE gene related products
- Overview of 92 available AIRE gene related products
- Recommended
- genomics-online: primer clones - Search results for 92 available AIRE gene related products
- Overview of 92 available AIRE gene related products
- Recommended
- genomics-online: shRNA clones - Search results for 92 available AIRE gene related products
- Overview of 92 available AIRE gene related products
- Recommended
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for AIRE
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for AIRE
- GeneCopoeia miRNA 3'UTR Target clone products for AIRE
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AIRE
Sources for AIRE Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
- (109) DGIdb
- (110) ClinicalTrials
- (111) FDA Approved Drugs
- (112) RVIS
- (113) SIGNOR
- (114) diseasecard
- (115) NIH Rare Diseases
- (116) Orphanet
- (117) UMLS
- (118) GTR
- (119) Disease Ontology
- (120) Genetics Home Reference
- (121) MeSH
- (122) MedlinePlus
- (123) CDC
- (124) NINDS
- (125) NCBI Bookshelf
- (126) ClinVar
- (127) Gene Damage Index
- (128) ViGene Biosciences
- (129) HPO
- (130) UDN
- (131) VISTA
- (132) FANTOM5
- (133) ENCODE
- (134) ProSci
- (135) Horizon
- (136) NURSA
- (137) IID
- (138) Cyagen
- (139) VectorBuilder
- (140) SNPedia
- (141) BRCA Exchange
- (142) St John's Lab
- (143) CIViC
- (144) ProteoGenix
- (145) dbSUPER
- (146) TISSUES
- (147) Gene ORGANizer
- (148) abm
- (149) CrownBio
- (150) Human Protein Atlas
- (151) GWAS Catalog
- (152) Monarch Initiative
- (153) DataMed
- (154) HumanCyc
- (155) genomics-online
- (156) UCNEbase
- (157) EPDnew
- (158) Applied Biosystems
- (159) GlyConnect
- (160) Aminode
- (161) GeneCopoeia
- (162) GPS-Prot
- (163) RNACentral
- (164) LncRNADisease
- (165) LOVD
- (166) miR2Disease
- (167) DiseaseEnhancer
- (168) Boster Bio
- (169) Biorbyt