AIRE
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Official Full Name
autoimmune regulator
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Overview
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] -
Synonyms
AIRE; autoimmune regulator; APS1; APSI; PGA1; AIRE1; APECED; autoimmune polyendocrinopathy candidiasis ectodermal dystrophy protein;
- Recombinant Proteins
- Protein Pre-coupled Magnetic Beads
- Human
- Mouse
- Zebrafish
- E.Coli or Yeast
- HEK293
- HEK293T
- Mammalian Cell
- Mammalian cells
- Flag
- His
- His (Fc)
- Avi
- Myc
- DDK
- MYC
Species | Cat.# | Product name | Source (Host) | Tag | Protein Length | Price |
---|---|---|---|---|---|---|
Human | AIRE-3784H | Recombinant Human AIRE, His-tagged | E.Coli or Yeast | His | 545 | |
Human | AIRE-1696H | Recombinant Human AIRE Protein, Myc/DDK-tagged, C13 and N15-labeled | HEK293T | Myc/DDK | ||
Human | AIRE-299H-B | Recombinant Human AIRE Protein Pre-coupled Magnetic Beads | HEK293 | |||
Human | AIRE-1123HFL | Recombinant Full Length Human AIRE Protein, C-Flag-tagged | Mammalian cells | Flag | ||
Human | AIRE-299H | Recombinant Human AIRE Protein, His (Fc)-Avi-tagged | HEK293 | His (Fc)-Avi | ||
Mouse | Aire-560M | Recombinant Mouse Aire Protein, MYC/DDK-tagged | HEK293T | MYC/DDK | ||
Zebrafish | AIRE-6087Z | Recombinant Zebrafish AIRE | Mammalian Cell | His |
- Involved Pathway
- Protein Function
- Interacting Protein
- AIRE Related Articles
AIRE involved in several pathways and played different roles in them. We selected most pathways AIRE participated on our site, such as Ubiquitin mediated proteolysis, Primary i, nodeficiency, which may be useful for your reference. Also, other proteins which involved in the same pathway with AIRE were listed below. Creative BioMart supplied nearly all the proteins listed, you can search them on our site.
Pathway Name | Pathway Related Protein |
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Ubiquitin mediated proteolysis | UBE2NB;CBL;RHOBTB2;TRIM37;UBE2D1A;PIAS4B;PIAS1;CDH1-A;VHL |
Primary i | AIRE;ORAI1;CD8B1;ICOS;DCLRE1C;CD3E;IGLL1;BLNK;IL7R |
nodeficiency | CD3D;CD79A;ZAP70;DCLRE1C;Cd79a, Cd79b;RAG2;LCK;TNFRSF13B;IL2RG |
AIRE has several biochemical functions, for example, RNA polymerase II regulatory region sequence-specific DNA binding, chromatin binding, histone binding. Some of the functions are cooperated with other proteins, some of the functions could acted by AIRE itself. We selected most functions AIRE had, and list some proteins which have the same functions with AIRE. You can find most of the proteins on our site.
Function | Related Protein |
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RNA polymerase II regulatory region sequence-specific DNA binding | GATA6;RARG;ZBTB12.2;NHLH2;ZBTB11;NHLH1;DMRT1;STOX1;ZFP583 |
chromatin binding | L3MBTL1;PRKCBB;CREBBP;PHF8;CHAF1A;Trl;CENPA;PRKAA1;GABPA |
histone binding | HIST1H3G;NCAPD3;SET;HIST1H4D;USP49;Ctsl;BAZ2A;HIST1H4N;ATAD2 |
identical protein binding | BIRC5;MCIN;GPR50;HOOK2;PRPF19;DYNLT1;INS2;ZDHHC17;TRP53 |
protein binding | SNX17;PILRB;GTF3C3;PHYHD1;CSNK1A1;CBLN3;KCNE4;CCL4;EVI5L |
transcription cofactor activity | MED17;ZNF710;SUPT20H;MED1;POU2AF1;MSX2;TRIP13;TFDP2;CREB1 |
transcription regulatory region DNA binding | TP53;TAF7L;SOX17;TBL1X;DHX36;ZNF174;MTERFD1;IKZF3;ZNF217 |
transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding | SOHLH2;MAFGB;TRP53;MYF6;MAFF;GATA2;NKX2-5;GRHL2;ALX1 |
translation regulator activity | IGF2BP1;RPS14;IGF2BP2;RPS9;YBX2;AIRE;IGF2BP3 |
zinc ion binding | TP53;BAZ2A;APOBEC3F;KDM5D;ZDHHC16A;SETDB1B;AIRE;DPF2;TRIM35-21 |
AIRE has direct interactions with proteins and molecules. Those interactions were detected by several methods such as yeast two hybrid, co-IP, pull-down and so on. We selected proteins and molecules interacted with AIRE here. Most of them are supplied by our site. Hope this information will be useful for your research of AIRE.
HIST1H3D
- Q&As
- Reviews
Q&As (11)
Ask a questionWhile the AIRE protein is primarily known for its immune-related functions, studies suggest that it may also have non-immune-related roles in various tissues. Recent research has linked AIRE to the regulation of cell proliferation, differentiation, and apoptosis, as well as cellular stress response pathways. However, the precise mechanisms and significance of these non-immune functions of AIRE are not fully understood and require further investigation.
The management of APS-1 involves treating the individual symptoms and complications associated with the disorder. For example, hormone replacement therapy is used to address hormone deficiencies, such as adrenal insufficiency or hypoparathyroidism. Frequent monitoring and adjustment of hormone levels are necessary to maintain proper function. In cases of chronic mucocutaneous candidiasis, antifungal medications are prescribed to control the infections. Additionally, regular check-ups and screening for associated autoimmune diseases are important for early detection and intervention.
While APS-1 is the primary disorder associated with AIRE protein dysfunction, studies have suggested that variations in AIRE function may contribute to the development of other autoimmune diseases. For example, alterations in AIRE expression or gene mutations have been observed in certain cases of autoimmune thyroid disease, type 1 diabetes, and systemic lupus erythematosus. However, the exact role of AIRE in these conditions and the extent of its impact are still being investigated.
The AIRE protein has been a subject of interest for potential therapeutic interventions. Its role in promoting immune tolerance makes it an attractive target for strategies aimed at restoring tolerance in autoimmune diseases. Researchers have explored approaches like immune-modulating drugs and strategies to promote promiscuous gene expression in non-thymic tissues. However, these approaches are still in the experimental stages and much research is needed before they can be translated into clinical applications.
The diagnosis of APS-1 is typically based on clinical presentation, family history, and laboratory tests. The presence of specific autoimmune conditions, recurrent infections, and characteristic features can raise suspicion. Genetic testing can confirm the diagnosis by identifying mutations in the AIRE gene. Additionally, blood tests for autoantibodies and other markers of autoimmune diseases can be conducted.
Yes, there are ongoing research efforts to further understand APS-1 and develop new treatment options. Some experimental treatments being explored include immune-modulating therapies, gene therapy, and stem cell transplantation. These interventions aim to restore immune tolerance and potentially prevent or reverse autoimmune reactions associated with APS-1. However, these approaches are still in the early stages of development and require further investigation.
APS-1 can lead to various complications due to the multiple systems affected by autoimmune attacks. These complications can include recurrent infections, organ damage (such as in the kidneys or liver), neurological problems, gastrointestinal issues, reproductive difficulties, and an increased risk of developing other autoimmune diseases. Regular medical care, monitoring, and proactive management of symptoms are essential to minimize the risk and impact of these complications.
Mutations in the AIRE gene can lead to a rare genetic disorder called autoimmune polyendocrine syndrome type 1 (APS-1), also known as APECED (autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy). These mutations result in dysfunctional or absent AIRE protein, leading to impaired central tolerance and the development of multiple autoimmune conditions affecting various endocrine organs and sometimes other tissues.
While there are no specific lifestyle changes that can cure APS-1, individuals with the condition can adopt certain lifestyle practices to support their overall health and well-being. This may include maintaining a balanced and nutritious diet to support optimal immune function and hormone production. Regular exercise and physical activity can also be beneficial for maintaining cardiovascular health and managing stress levels. Additionally, individuals with APS-1 should avoid exposure to known triggers that can worsen autoimmune symptoms, such as certain infections or environmental toxins. Following the advice and recommendations of healthcare providers can help individuals with APS-1 make informed choices about their lifestyle habits.
The AIRE protein functions by facilitating the expression of a wide variety of tissue-specific antigens in the thymus. This process is known as promiscuous gene expression. By presenting self-antigens to developing T-cells, the AIRE protein helps eliminate or control autoreactive T-cells, thereby preventing autoimmune reactions against self-tissues.
APS-1 is characterized by a combination of autoimmune endocrine disorders, such as hypoparathyroidism, adrenal insufficiency, and primary hypogonadism. Other symptoms can include chronic mucocutaneous candidiasis (persistent fungal infections of the skin and nails), enamel hypoplasia (malformation of tooth enamel), and various non-endocrine autoimmune conditions, including autoimmune hepatitis, autoimmune thyroiditis, and more.
Customer Reviews (4)
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