AIRE report

I. Expression across cell types

Insufficient scRNA-seq data for expression of AIRE at single-cell level.

II. Expression across tissues

sc-RNAseq data

Insufficient scRNA-seq data for expression of AIRE at tissue level.

III. Associated gene sets

GO_0006366Biological processtranscription by RNA polymerase II
GO_0032722Biological processpositive regulation of chemokine production
GO_0002458Biological processperipheral T cell tolerance induction
GO_2000410Biological processregulation of thymocyte migration
GO_0097536Biological processthymus epithelium morphogenesis
GO_0006959Biological processhumoral immune response
GO_0006417Biological processregulation of translation
GO_0006955Biological processimmune response
GO_0002509Biological processcentral tolerance induction to self antigen
GO_0045893Biological processpositive regulation of DNA-templated transcription
GO_0006355Biological processregulation of DNA-templated transcription
GO_0045060Biological processnegative thymic T cell selection
GO_0045944Biological processpositive regulation of transcription by RNA polymerase II
GO_0016604Cellular componentnuclear body
GO_0001674Cellular componentfemale germ cell nucleus
GO_0005737Cellular componentcytoplasm
GO_0001673Cellular componentmale germ cell nucleus
GO_0005634Cellular componentnucleus
GO_0000977Molecular functionRNA polymerase II transcription regulatory region sequence-specific DNA binding
GO_0042393Molecular functionhistone binding
GO_0003682Molecular functionchromatin binding
GO_0045182Molecular functiontranslation regulator activity
GO_0042802Molecular functionidentical protein binding
GO_0008270Molecular functionzinc ion binding
GO_0005515Molecular functionprotein binding

IV. Literature review

[source]
Gene nameAIRE
Protein nameAutoimmune regulator (Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy protein) (APECED protein)
Autoimmune regulator
SynonymsAPECED
DescriptionFUNCTION: 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) . 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 . 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). .

AccessionsA5A8N0
ENST00000291582.6 [O43918-1]
O43918