| UniProt ID | AIRE_HUMAN | |
|---|---|---|
| UniProt AC | O43918 | |
| Protein Name | Autoimmune regulator | |
| Gene Name | AIRE | |
| Organism | Homo sapiens (Human). | |
| Sequence Length | 545 | |
| Subcellular Localization | Nucleus . Cytoplasm . 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). Associat | |
| Protein Description | 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] | |
| Protein Sequence | MATDAALRRLLRLHRTEIAVAVDSAFPLLHALADHDVVPEDKFQETLHLKEKEGCPQAFHALLSWLLTQDSTAILDFWRVLFKDYNLERYGRLQPILDSFPKDVDLSQPRKGRKPPAVPKALVPPPRLPTKRKASEEARAAAPAALTPRGTASPGSQLKAKPPKKPESSAEQQRLPLGNGIQTMSASVQRAVAMSSGDVPGARGAVEGILIQQVFESGGSKKCIQVGGEFYTPSKFEDSGSGKNKARSSSGPKPLVRAKGAQGAAPGGGEARLGQQGSVPAPLALPSDPQLHQKNEDECAVCRDGGELICCDGCPRAFHLACLSPPLREIPSGTWRCSSCLQATVQEVQPRAEEPRPQEPPVETPLPPGLRSAGEEVRGPPGEPLAGMDTTLVYKHLPAPPSAAPLPGLDSSALHPLLCVGPEGQQNLAPGARCGVCGDGTDVLRCTHCAAAFHWRCHFPAGTSRPGTGLRCRSCSGDVTPAPVEGVLAPSPARLAPGPAKDDTASHEPALHRDDLESLLSEHTFDGILQWAIQSMARPAAPFPS | |
| Overview of Protein Modification Sites with Functional and Structural Information | ||
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* ASA = Accessible Surface Area
| Locations | Modification | Substrate Peptides & Secondary Structure |
ASA (%) | Reference | Orthologous Protein Cluster |
|---|---|---|---|---|---|
| 68 | Phosphorylation | ALLSWLLTQDSTAIL HHHHHHHCCCCHHHH | 28.32 | 17997173 | |
| 107 | Phosphorylation | FPKDVDLSQPRKGRK CCCCCCCCCCCCCCC | 33.40 | 24719451 | |
| 114 | Acetylation | SQPRKGRKPPAVPKA CCCCCCCCCCCCCHH | 65.11 | 22659170 | |
| 120 | Acetylation | RKPPAVPKALVPPPR CCCCCCCHHHCCCCC | 47.99 | 22659170 | |
| 131 | Acetylation | PPPRLPTKRKASEEA CCCCCCCCHHHCHHH | 50.38 | 22659170 | |
| 147 | Phosphorylation | AAAPAALTPRGTASP HHCCCCCCCCCCCCC | 13.25 | 46161105 | |
| 156 | Phosphorylation | RGTASPGSQLKAKPP CCCCCCCCCCCCCCC | 35.41 | 17997173 | |
| 159 | Acetylation | ASPGSQLKAKPPKKP CCCCCCCCCCCCCCC | 46.88 | 22659170 | |
| 164 | Acetylation | QLKAKPPKKPESSAE CCCCCCCCCCCCCHH | 84.90 | 22659170 | |
| 165 | Acetylation | LKAKPPKKPESSAEQ CCCCCCCCCCCCHHH | 60.84 | 22659170 | |
| 183 | Phosphorylation | PLGNGIQTMSASVQR CCCCCHHHHCHHHHH | 15.92 | 46161109 | |
| 187 | Phosphorylation | GIQTMSASVQRAVAM CHHHHCHHHHHHHHH | 16.10 | 46161099 | |
| 221 | Acetylation | VFESGGSKKCIQVGG HHHCCCCCEEEEECC | 55.74 | 22659170 | |
| 222 | Acetylation | FESGGSKKCIQVGGE HHCCCCCEEEEECCE | 37.96 | 22659170 | |
| 231 | Phosphorylation | IQVGGEFYTPSKFED EEECCEEECCCCCCC | 17.28 | 28258704 | |
| 232 | Phosphorylation | QVGGEFYTPSKFEDS EECCEEECCCCCCCC | 26.80 | 28258704 | |
| 243 | Acetylation | FEDSGSGKNKARSSS CCCCCCCCCCCCCCC | 57.90 | 22659170 | |
| 245 | Acetylation | DSGSGKNKARSSSGP CCCCCCCCCCCCCCC | 48.97 | 22659170 | |
| 253 | Acetylation | ARSSSGPKPLVRAKG CCCCCCCCCCEECCC | 55.28 | 22659170 | |
| 259 | Acetylation | PKPLVRAKGAQGAAP CCCCEECCCCCCCCC | 44.19 | 22659170 | |
| 474 | Phosphorylation | GTGLRCRSCSGDVTP CCCCEEECCCCCCCC | 19.09 | 22468782 | |
| 476 | Phosphorylation | GLRCRSCSGDVTPAP CCEEECCCCCCCCCC | 39.00 | 22468782 | |
| 491 | Phosphorylation | VEGVLAPSPARLAPG CCCEECCCCCCCCCC | 26.11 | 22468782 |
| Modified Location | Modified Residue | Modification | Function | Reference | ||
|---|---|---|---|---|---|---|
Oops, there are no descriptions of PTM sites of AIRE_HUMAN !! | ||||||
* Distance = the distance between SAP position and PTM sites.
| Modified Location | Modification | Variant Position (Distance <= 10) |
Residue Change | SAP | Related Disease | Reference |
|---|---|---|---|---|---|---|
Oops, there are no SNP-PTM records of AIRE_HUMAN !! | ||||||
| Kegg Disease | ||||||
|---|---|---|---|---|---|---|
| There are no disease associations of PTM sites. | ||||||
| OMIM Disease | ||||||
| 240300 | Autoimmune polyendocrine syndrome 1, with or without reversible metaphyseal dysplasia (APS1) | |||||
| Kegg Drug | ||||||
| There are no disease associations of PTM sites. | ||||||
| DrugBank | ||||||
| There are no disease associations of PTM sites. | ||||||
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