AIRE

autoimmune regulator | APS1, PGA1, APECED

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]

Biological processes 45 terms

DNA binding (GO:0003677)RNA polymerase II transcription regulatory region sequence-specific DNA binding (GO:0000977)RNA polymerase II transcription regulatory region sequence-specific DNA binding (GO:0000977)central tolerance induction to self antigen (GO:0002509)central tolerance induction to self antigen (GO:0002509)chromatin binding (GO:0003682)chromatin binding (GO:0003682)cytoplasm (GO:0005737)histone binding (GO:0042393)histone binding (GO:0042393)humoral immune response (GO:0006959)humoral immune response (GO:0006959)identical protein binding (GO:0042802)identical protein binding (GO:0042802)immune response (GO:0006955)immune response (GO:0006955)negative thymic T cell selection (GO:0045060)nuclear body (GO:0016604)nuclear body (GO:0016604)nucleus (GO:0005634)nucleus (GO:0005634)nucleus (GO:0005634)nucleus (GO:0005634)peripheral T cell tolerance induction (GO:0002458)peripheral T cell tolerance induction (GO:0002458)peripheral T cell tolerance induction (GO:0002458)positive regulation of DNA-templated transcription (GO:0045893)positive regulation of DNA-templated transcription (GO:0045893)positive regulation of chemokine production (GO:0032722)positive regulation of chemokine production (GO:0032722)positive regulation of transcription by RNA polymerase II (GO:0045944)positive regulation of transcription by RNA polymerase II (GO:0045944)positive regulation of transcription by RNA polymerase II (GO:0045944)protein binding (GO:0005515)regulation of DNA-templated transcription (GO:0006355)regulation of thymocyte migration (GO:2000410)regulation of thymocyte migration (GO:2000410)regulation of thymocyte migration (GO:2000410)regulation of translation (GO:0006417)thymus epithelium morphogenesis (GO:0097536)thymus epithelium morphogenesis (GO:0097536)thymus epithelium morphogenesis (GO:0097536)tolerance induction (GO:0002507)translation regulator activity (GO:0045182)zinc ion binding (GO:0008270)

Expression (TPM)