TF Info Page for AIRE (SAND)
Conclusion
| Assessment | Binding Mode | Motif Status | Notes | Comments |
|---|---|---|---|---|
| Known motif | 1 Monomer or homomultimer | In vivo/Misc source | Only known motifs are from Transfac or HocoMoco - origin is uncertain | Binds to TTATTA and tandem repeats of ATTGGTTA (PMID: 11533054) |
Description
| Description: | autoimmune regulator [Source:HGNC Symbol;Acc:HGNC:360] | |||
| Entrez Summary | 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] | |||
| Ensembl ID: | ENSG00000160224 | |||
| External Link: | CisBP | |||
| Interpro | IPR000770; IPR001965; IPR004865; IPR008087; IPR010919; IPR011011; IPR019786; IPR019787; | |||
| Protein Domain: | ENSP00000291582 | |||
| Domain: |
|
Previous Annotations
| Source | Annotation |
| TF-CAT classification |
TF Gene Candidate_DNA-Binding sequence-specific_DNA Binding_ PMIDS:10022980 10049735 12376594 10748110 11274163 11533054 10748110 15649436 10677297 15649436 |
| Vaquerizas 2009 TF classification "a" Has direct evidence of TF function; "b" Has evidence for an orthologous TF; "c" contains likely DBDs, but has no functional evidence; "x" is an unlikely TF such as predicted gene, genes with likely non-specific DBDs or that have function outside transcription; "other" category contains proteins without clear DBDs they curated from external sources. |
a |
| CisBP considers it as a TF? | Yes |
| TFclass considers it as a TF? | Yes |
| Has GO:0003700 "transcription factor activity, sequence-specific DNA binding" | Yes |
| GO-Info |
GO:0001228 RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor IC - GO_REF:0000036 |
|
Initial Assessment
1a1 Protein has a high confidence PWM (HT-SELEX, PBM or B1H model) or there is a crystal structure that supports sequence specific DNA binding; 1a2 There is high confidence data for a close ortholog (as defined in CisBP); 2a1 There is lower confidence direct evidence, such as a Jaspar, Hocomoco or Transfac model; 2a2 There is lower confidence evidence for an close ortholog; 3a There is decent circumstantial evidence for its role as a TF or not; 4a Two or more datasets predict it as a TF; 5a One of the source datasets predicts is as a TF |
2a1, Lower confidence direct evidence |
| TF has conditional DNA-binding requirements |