Gene name: AIRE

Uniprot entry:

O43918

Protein names:

Autoimmune regulator (Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy protein) (APECED protein)

Protein sequence:

1_MATDA 6_ ALRRL 11_ LRLHR 16_ TEIAV 21_ AVDSA 26_ FPLLH 31_ ALADH 36_ DVVPE 41_ DKFQE 46_ TLHLK 51_ EKEGC 56_ PQAFH 61_ ALLSW 66_ LLTQD 71_ STAIL 76_ DFWRV 81_ LFKDY 86_ NLERY 91_ GRLQP 96_ ILDSF 101_ PKDVD 106_ LSQPR 111_ KGRKP 116_ PAVPK 121_ ALVPP 126_ PRLPT 131_ KRKAS 136_ EEARA 141_ AAPAA 146_ LTPRG 151_ TASPG 156_ SQLKA 161_ KPPKK 166_ PESSA 171_ EQQRL 176_ PLGNG 181_ IQTMS 186_ ASVQR 191_ AVAMS 196_ SGDVP 201_ GARGA 206_ VEGIL 211_ IQQVF 216_ ESGGS 221_ KKCIQ 226_ VGGEF 231_ YTPSK 236_ FEDSG 241_ SGKNK 246_ ARSSS 251_ GPKPL 256_ VRAKG 261_ AQGAA 266_ PGGGE 271_ ARLGQ 276_ QGSVP 281_ APLAL 286_ PSDPQ 291_ LHQKN 296_ EDECA 301_ VCRDG 306_ GELIC 311_ CDGCP 316_ RAFHL 321_ ACLSP 326_ PLREI 331_ PSGTW 336_ RCSSC 341_ LQATV 346_ QEVQP 351_ RAEEP 356_ RPQEP 361_ PVETP 366_ LPPGL 371_ RSAGE 376_ EVRGP 381_ PGEPL 386_ AGMDT 391_ TLVYK 396_ HLPAP 401_ PSAAP 406_ LPGLD 411_ SSALH 416_ PLLCV 421_ GPEGQ 426_ QNLAP 431_ GARCG 436_ VCGDG 441_ TDVLR 446_ CTHCA 451_ AAFHW 456_ RCHFP 461_ AGTSR 466_ PGTGL 471_ RCRSC 476_ SGDVT 481_ PAPVE 486_ GVLAP 491_ SPARL 496_ APGPA 501_ KDDTA 506_ SHEPA 511_ LHRDD 516_ LESLL 521_ SEHTF 526_ DGILQ 531_ WAIQS 536_MARPA

Protein annotations

Protein functions:

1: 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)