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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 autoi... See more...
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, 1. Among its related pathways are Primary immunodeficiency and Ubiquitin mediated proteolysis. 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 ZMYND8.
UniProtKB/Swiss-Prot Summary 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
- HGNC(360)
- Entrez Gene(326)
- Ensembl(ENSG00000160224)
- OMIM(607358)
- UniProtKB(O43918)
- Open Targets Platform(ENSG00000160224)
- Monarch Initiative
- Search for AIRE at DataMed
- Search for AIRE at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for AIRE Gene
Genomics for AIRE Gene
GeneHancer (GH) Regulatory Elements Pubs
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 the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for AIRE
- Top Transcription factor binding sites by QIAGEN in the AIRE gene promoter:
-
- AP-1
- ATF-2
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 HGNC
- 21q22.3 by Entrez Gene
- 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
- NSJ Bioreagents AIRE Antibody
-
Custom Antibody ServicesOriGene Antibodies for AIRE
- Novus Biologicals Antibodies for AIRE
-
Abcam antibodies for AIRE
- Invitrogen Antibodies for AIRE (AFLGC-Aire)
-
Boster Bio Antibodies for AIRE
-
Santa Cruz Biotechnology (SCBT) Antibodies for AIRE
Protein Products
- Search Origene for MassSpec and Protein Over-expression Lysates for AIRE
- Origene Custom Protein Services for AIRE
-
Signalway 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
- InterPro:
- Blocks:
-
- Zn-finger-like, PHD finger
- SAND domain
- SAND-like
- Sp100 domain
- Autoimmune regulator (AIRE) signature
- ProtoNet:
Suggested Antigen Peptide Sequences for AIRE Gene
- GenScript: Design optimal peptide antigens:
-
- Autoimmune regulator (A5A8N0_HUMAN)
- Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy protein (AIRE_HUMAN)
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:0000976 | transcription regulatory region sequence-specific DNA binding | IDA, IBA | 18292755 |
| GO:0000977 | RNA polymerase II regulatory region sequence-specific DNA binding | IDA | 11533054 |
| GO:0000981 | DNA-binding transcription factor activity, RNA polymerase II-specific | ISM | 19274049 |
| GO:0001228 | DNA-binding transcription activator activity, RNA polymerase II-specific | IMP | 11274163 |
| GO:0003677 | DNA binding | IEA | -- |
Phenotypes for AIRE Gene
- MGI mutant phenotypes for AIRE:
-
inferred from 10 alleles
- nervous system phenotype
- immune system phenotype
- respiratory system phenotype
- normal phenotype
- behavior/neurological phenotype
- mortality/aging
- homeostasis/metabolism phenotype
- growth/size/body region phenotype
- liver/biliary system phenotype
- neoplasm
- digestive/alimentary phenotype
- endocrine/exocrine gland phenotype
- reproductive system phenotype
- vision/eye phenotype
- hematopoietic system phenotype
- no phenotypic analysis
- GenomeRNAi human phenotypes for AIRE:
-
- Increased vaccinia virus (VACV) infection
- Mildly decreased CFP-tsO45G cell surface transport
- no effect
- Decreased vaccinia virus (VACV) infection
- shRNA abundance <= 50%
- Decreased shRNA abundance (Z-score < -2)
- Increased IL-8 secretion
- Negative genetic interaction between KRASG13D/+ and KRAS+/-
- Decreased viability after Maraba virus infection
- Negative genetic interaction between PTTG1-/- and PTTG1+/+
- Increased shRNA abundance (Z-score > 2)
- Decreased viability in colon lineage
- Decreased Aire reporter expression
- Big cells
Animal Models for AIRE Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for AIRE - Select products 50% OFF >
- * AIRE CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for AIRE
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for AIRE
-
Santa Cruz Biotechnology (SCBT) CRISPR 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
Clone Products
- Applied Biological Materials (abm): Clones for AIRE - Select products 50% OFF >
- * AIRE as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG226851
- MR226851
- MR226851L3
- MR226851L4
- MR229731
- MR229745
- MR229752
- MR229754
- MR230178
- MR230186
- MR230214
- MR230220
- MR230465
- MR230467
- MR230478
- RC213497
- RC213497L1
- RC213497L2
- RC213497L3
- RC213497L4
- RC216971
- RC216971L3
- RC216971L4
- RG213497
- RG216971
- RR207890
- RR207890L3
- RR207890L4
- MR226851L3V
- MR226851L4V
- RC213497L1V
- RC213497L2V
- RC213497L3V
- RC213497L4V
- RC216971L3V
- RC216971L4V
- RR207890L3V
- RR207890L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for AIRE
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for AIRE
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 | 3 |
| plasma membrane | 2 |
| cytoskeleton | 2 |
| mitochondrion | 2 |
| endoplasmic reticulum | 2 |
| cytosol | 2 |
| peroxisome | 1 |
| endosome | 1 |
| lysosome | 1 |
| golgi apparatus | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | TAS,NAS | 9398840 |
| GO:0005737 | cytoplasm | IEA | -- |
| GO:0016604 | nuclear body | IEA,ISS | -- |
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 | IBA,ISS | -- |
| GO:0002509 | central tolerance induction to self antigen | IMP | 26084028 |
| GO:0006355 | regulation of transcription, DNA-templated | IDA | 18292755 |
| GO:0006417 | regulation of translation | IEA | -- |
| GO:0006955 | immune response | TAS | 9398840 |
Transcripts for AIRE Gene
mRNA/cDNA for AIRE Gene
- 3 REFSEQ mRNAs :
- 8 NCBI additional mRNA sequence :
- 5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000530812 4306 nts (view in UCSC)
- ENST00000527919 2409 nts (view in UCSC)
- ENST00000291582 2690 nts (view in UCSC)
- ENST00000397994 1279 nts (view in UCSC)
- ENST00000337909 1361 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for AIRE - Select products 50% OFF >
- * AIRE CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for AIRE
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for AIRE
-
Santa Cruz Biotechnology (SCBT) CRISPR 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
Clone Products
- Applied Biological Materials (abm): Clones for AIRE - Select products 50% OFF >
- * AIRE as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG226851
- MR226851
- MR226851L3
- MR226851L4
- MR229731
- MR229745
- MR229752
- MR229754
- MR230178
- MR230186
- MR230214
- MR230220
- MR230465
- MR230467
- MR230478
- RC213497
- RC213497L1
- RC213497L2
- RC213497L3
- RC213497L4
- RC216971
- RC216971L3
- RC216971L4
- RG213497
- RG216971
- RR207890
- RR207890L3
- RR207890L4
- MR226851L3V
- MR226851L4V
- RC213497L1V
- RC213497L2V
- RC213497L3V
- RC213497L4V
- RC216971L3V
- RC216971L4V
- RR207890L3V
- RR207890L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for AIRE
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for AIRE
| 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: |
Relevant External Links for AIRE Gene
- GeneLoc Exon Structure for
- AIRE
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
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for AIRE
SOURCE 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
- Pancreas(2.8)
- Blood(2.8)
- Bone marrow(2.7)
- Spleen(2.7)
- Thyroid gland(2.7)
- Kidney(2.6)
- Lymph node(2.5)
- Stomach(2.4)
- Adrenal gland(2.4)
- Intestine(2.2)
- Liver(2.2)
- Skin(2.1)
- Nervous system(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
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 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | AIRE 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | AIRE 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Aire 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Aire 30 |
|
||
| Platypus (Ornithorhynchus anatinus) |
Mammalia | AIRE 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | AIRE 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | AIRE 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | AIRE 31 |
|
OneToOne | |
| Zebrafish (Danio rerio) |
Actinopterygii | aire 30 31 |
|
OneToOne | |
| Fruit Fly (Drosophila melanogaster) |
Insecta | bon 31 |
|
OneToOne | |
| Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | RCO1 33 |
|
|
|
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne |
- Species where no ortholog for AIRE was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
- 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
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for AIRE Gene
| SNP ID | Clinical significance and condition | Chr 21 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 636416 | Uncertain Significance: not provided | 44,293,000(+) | C/T | MISSENSE_VARIANT | |
| 636457 | Pathogenic/Likely Pathogenic: Polyglandular autoimmune syndrome, type 1; not provided | 44,286,026(+) | T/TACGCCGGCTTCTG | NONSENSE | |
| 640857 | Uncertain Significance: Polyglandular autoimmune syndrome, type 1 | 44,290,049(+) | G/A | MISSENSE_VARIANT | |
| 644559 | Uncertain Significance: Polyglandular autoimmune syndrome, type 1 | 44,287,017(+) | C/T | MISSENSE_VARIANT | |
| 644640 | Uncertain Significance: Polyglandular autoimmune syndrome, type 1 | 44,287,022(+) | G/A | MISSENSE_VARIANT |
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
(76) MalaCards diseases for AIRE Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| autoimmune polyendocrine syndrome, type i, with or without reversible metaphyseal dysplasia |
|
|
| hypoparathyroidism, familial isolated, 1 |
|
|
| candidiasis |
|
|
| autoimmune polyendocrine syndrome |
|
|
| polyendocrinopathy |
|
|
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
- Open Targets Platform
No data available for Genatlas for AIRE Gene
Publications for AIRE Gene
- 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 23
- 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 23 41
- 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 23 41
- The autoimmune regulator PHD finger binds to non-methylated histone H3K4 to activate gene expression. (PMID: 18292755) Org T … Peterson P (EMBO reports 2008) 3 4 23
- 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 23 41
ExternalLinks
Products for AIRE Gene
- Custom Antibody ServicesOriGene Antibodies for AIRE
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- antibodies-online: Show 48 available AIRE Antibodies ranked by validation data
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- antibodies-online: Show 45 available AIRE Elisa Kits ranked by validation data
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- antibodies-online: Show 6 available AIRE Proteins ranked by validation data
- Compare Top AIRE Proteins
- Santa Cruz Biotechnology (SCBT) Antibodies for AIRE
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- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for AIRE
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- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AIRE
Sources for AIRE Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
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- (64) Proteopedia
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- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
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- (77) ESI-BIO
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