Summary | |
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Symbol | AIRE |
Name | autoimmune regulator |
Aliases | PGA1; autoimmune polyendocrinopathy candidiasis ectodermal dystrophy; APECED; autoimmune regulator (autoimmu ...... |
Chromosomal Location | 21q22.3 |
External Links | HGNC, NCBI, Ensembl, Uniprot, GeneCards |
Content |
Basic function annotation. > Subcellular Location, Domain and Function > Gene Ontology > KEGG and Reactome Pathway |
Subcellular Location | 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). |
Domain |
PF03172 HSR domain PF00628 PHD-finger PF01342 SAND domain |
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). |
Biological Process |
GO:0002521 leukocyte differentiation GO:0006417 regulation of translation GO:0006959 humoral immune response GO:0007159 leukocyte cell-cell adhesion GO:0010608 posttranscriptional regulation of gene expression GO:0030098 lymphocyte differentiation GO:0030217 T cell differentiation GO:0033077 T cell differentiation in thymus GO:0034248 regulation of cellular amide metabolic process GO:0042110 T cell activation GO:0043383 negative T cell selection GO:0045058 T cell selection GO:0045060 negative thymic T cell selection GO:0045061 thymic T cell selection GO:0070486 leukocyte aggregation GO:0070489 T cell aggregation GO:0071593 lymphocyte aggregation GO:0071594 thymocyte aggregation |
Molecular Function |
GO:0001228 transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding GO:0003682 chromatin binding GO:0042393 histone binding GO:0045182 translation regulator activity |
Cellular Component | - |
KEGG |
hsa04120 Ubiquitin mediated proteolysis |
Reactome | - |
Summary | |
---|---|
Symbol | AIRE |
Name | autoimmune regulator |
Aliases | PGA1; autoimmune polyendocrinopathy candidiasis ectodermal dystrophy; APECED; autoimmune regulator (autoimmu ...... |
Chromosomal Location | 21q22.3 |
External Links | HGNC, NCBI, Ensembl, Uniprot, GeneCards |
Content | Literatures that report relations between AIRE and anti-tumor immunity. The specific mechanism were also collected if the literature reports that a gene specifically promotes or inhibits the infiltration or function of T/NK cells. |
Literatures describing the relation between AIRE and anti-tumor immunity in human cancer.
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Summary | |
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Symbol | AIRE |
Name | autoimmune regulator |
Aliases | PGA1; autoimmune polyendocrinopathy candidiasis ectodermal dystrophy; APECED; autoimmune regulator (autoimmu ...... |
Chromosomal Location | 21q22.3 |
External Links | HGNC, NCBI, Ensembl, Uniprot, GeneCards |
Content | High-throughput screening data (e.g. CRISPR-Cas9, shRNA and RNAi) for T cell-mediated killing. Genetic screen techniques can identify mechanisms of tumor cell resistance (e.g., PTPN2) and sensitivity (e.g., APLNR) to killing by cytotoxic T cells, the central effectors of anti-tumor immunity. After comprehensively searching, eight groups of screening data sets were collected in the current database. In this tab, users can check whether their selected genes cause resistance or increase sensitivity to T cell-mediated killing in various data sets. |
> High-throughput Screening
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Statistical results of AIRE in screening data sets for detecting immune reponses.
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Summary | |
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Symbol | AIRE |
Name | autoimmune regulator |
Aliases | PGA1; autoimmune polyendocrinopathy candidiasis ectodermal dystrophy; APECED; autoimmune regulator (autoimmu ...... |
Chromosomal Location | 21q22.3 |
External Links | HGNC, NCBI, Ensembl, Uniprot, GeneCards |
Content |
Transcriptomic and genomic profiling of pre-treated tumor biopsies from responders and non-responders to immunotherapy. These data were used to identify signatures and mechanisms of response to checkpoint blockade (e.g., anti-PDL1 and anti-PD1). One example is that mutations in the gene PBRM1 benefit clinical survival of patients with clear cell renal cell carcinoma. After comprehensively searching, we collected 5 and 6 of transcriptomic and genomic data sets, respectively. In this tab, users can check whether their selected genes have significant difference of expression or mutation between responders and non-responders in various data sets. > Expression difference between responders and non-responders > Mutation difference between responders and non-responders |
Points in the above scatter plot represent the expression difference of AIRE in various data sets.
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Points in the above scatter plot represent the mutation difference of AIRE in various data sets.
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Summary | |
---|---|
Symbol | AIRE |
Name | autoimmune regulator |
Aliases | PGA1; autoimmune polyendocrinopathy candidiasis ectodermal dystrophy; APECED; autoimmune regulator (autoimmu ...... |
Chromosomal Location | 21q22.3 |
External Links | HGNC, NCBI, Ensembl, Uniprot, GeneCards |
Content |
Relations between abundance of tumor-infiltrating lymphocytes (TILs) and expression, copy number, methylation, or mutation of AIRE. The immune-related signatures of 28 TIL types from Charoentong's study, which can be viewed in the download page. For each cancer type, the relative abundance of TILs were inferred by using gene set variation analysis (GSVA) based on gene expression profile. In this tab, users can examine which kinds of TILs might be regulated by the current gene. |
Summary | |
---|---|
Symbol | AIRE |
Name | autoimmune regulator |
Aliases | PGA1; autoimmune polyendocrinopathy candidiasis ectodermal dystrophy; APECED; autoimmune regulator (autoimmu ...... |
Chromosomal Location | 21q22.3 |
External Links | HGNC, NCBI, Ensembl, Uniprot, GeneCards |
Content |
Relations between three kinds of immunomodulators and expression, copy number, methylation, or mutation of AIRE. These immunomo-dulators were collected from Charoentong's study. In this tab, users can examine which immunomodulators might be regulated by AIRE. > Immunoinhibitor > Immunostimulator > MHC molecule |
Summary | |
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Symbol | AIRE |
Name | autoimmune regulator |
Aliases | PGA1; autoimmune polyendocrinopathy candidiasis ectodermal dystrophy; APECED; autoimmune regulator (autoimmu ...... |
Chromosomal Location | 21q22.3 |
External Links | HGNC, NCBI, Ensembl, Uniprot, GeneCards |
Content |
Relations between chemokines (or receptors) and expression, copy number, methylation, or mutation of AIRE. In this tab, users can examine which chemokines (or receptors) might be regulated by the current gene. > Chemokine > Receptor |
Summary | |
---|---|
Symbol | AIRE |
Name | autoimmune regulator |
Aliases | PGA1; autoimmune polyendocrinopathy candidiasis ectodermal dystrophy; APECED; autoimmune regulator (autoimmu ...... |
Chromosomal Location | 21q22.3 |
External Links | HGNC, NCBI, Ensembl, Uniprot, GeneCards |
Content |
Distribution of AIRE expression across immune and molecular subtypes. > Immune subtype > Molecular subtype |
Summary | |
---|---|
Symbol | AIRE |
Name | autoimmune regulator |
Aliases | PGA1; autoimmune polyendocrinopathy candidiasis ectodermal dystrophy; APECED; autoimmune regulator (autoimmu ...... |
Chromosomal Location | 21q22.3 |
External Links | HGNC, NCBI, Ensembl, Uniprot, GeneCards |
Content |
Associations between AIRE and clinical features. > Overall survival analysis > Cancer stage > Tumor grade |
Summary | |
---|---|
Symbol | AIRE |
Name | autoimmune regulator |
Aliases | PGA1; autoimmune polyendocrinopathy candidiasis ectodermal dystrophy; APECED; autoimmune regulator (autoimmu ...... |
Chromosomal Location | 21q22.3 |
External Links | HGNC, NCBI, Ensembl, Uniprot, GeneCards |
Content | Drugs targeting AIRE collected from DrugBank database. |
There is no record. |