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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 autoimmune disease termed autoimmune polyendocrinopathy with candidiasis and ectodermal dystrophy (APECED). [provided by RefSeq, Jun 2012]
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.
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 | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | TAS,NAS | 9398840 |
GO:0005737 | cytoplasm | IEA | -- |
GO:0016604 | nuclear body | IEA,ISS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Primary immunodeficiency | ||
2 | Ubiquitin mediated proteolysis |
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 |
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: |
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 |
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 |
Disorder | Aliases | PubMed IDs |
---|---|---|
autoimmune polyendocrine syndrome, type i, with or without reversible metaphyseal dysplasia |
|
|
hypoparathyroidism, familial isolated, 1 |
|
|
candidiasis |
|
|
autoimmune polyendocrine syndrome |
|
|
polyendocrinopathy |
|
|