AIRE [The Human Chemical-Genetic Interaction Map Project]

This page is read only. You can view the source, but not change it. Ask your administrator if you think this is wrong.
======= AIRE =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: AIRE
  * **<color #00a2e8>Official Name</color>**: autoimmune regulator
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=326|326]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/O43918|O43918]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=AIRE&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20AIRE|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/607358|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  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]. 
  * **<color #00a2e8>UniProt Summary</color>**:  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). {ECO:0000250|UniProtKB:Q9Z0E3, ECO:0000269|PubMed:11274163, ECO:0000269|PubMed:18292755, ECO:0000269|PubMed:26084028, ECO:0000305|PubMed:19302042, ECO:0000305|PubMed:26972725}.

<button type='primary' size='sm' modal='Pfam_Domains'>Pfam Domains</button>
<button type='primary' size='sm' modal='GO_terms'>GO Terms</button>


<modal id='Pfam_Domains' size='lg' title='Pfam Domains'>
|Sp100|
|PHD|
|SAND|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|central tolerance induction to self antigen|
|peripheral T cell tolerance induction|
|peripheral tolerance induction|
|T cell tolerance induction|
|thymus epithelium morphogenesis|
|central tolerance induction|
|tolerance induction dependent upon immune response|
|tolerance induction to self antigen|
|regulation of thymocyte migration|
|chemokine production|
|negative thymic T cell selection|
|negative T cell selection|
|tolerance induction|
|translation regulator activity|
|thymic T cell selection|
|T cell selection|
|T cell mediated immunity|
|regulation of T cell migration|
|thymus development|
|T cell differentiation in thymus|
|regulation of lymphocyte migration|
|histone binding|
|T cell differentiation|
|cytokine production|
|regulation of leukocyte migration|
|transcription regulatory region DNA binding|
|T cell activation|
|lymphocyte differentiation|
|lymphocyte mediated immunity|
|adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains|
|nuclear body|
|RNA polymerase II regulatory region sequence-specific DNA binding|
|leukocyte differentiation|
|humoral immune response|
|regulation of translation|
|lymphocyte activation|
|chromatin binding|
|regulation of cellular amide metabolic process|
|gland development|
|morphogenesis of an epithelium|
|DNA-binding transcription activator activity, RNA polymerase II-specific|
|posttranscriptional regulation of gene expression|
|hemopoiesis|
|tissue morphogenesis|
|hematopoietic or lymphoid organ development|
|adaptive immune response|
|immune system development|
|leukocyte mediated immunity|
|zinc ion binding|
|regulation of cell migration|
|regulation of cell motility|
|leukocyte activation|
|regulation of locomotion|
|regulation of cellular component movement|
|identical protein binding|
|cell activation|
|immune effector process|
|epithelium development|
|positive regulation of transcription by RNA polymerase II|
|positive regulation of transcription, DNA-templated|
|DNA-binding transcription factor activity, RNA polymerase II-specific|
|positive regulation of nucleic acid-templated transcription|
|positive regulation of RNA biosynthetic process|
|regulation of immune system process|
|positive regulation of RNA metabolic process|
|tissue development|
|immune response|
|positive regulation of nucleobase-containing compound metabolic process|
|positive regulation of macromolecule biosynthetic process|
|positive regulation of cellular biosynthetic process|
|positive regulation of gene expression|
|positive regulation of biosynthetic process|
</modal>
\\

 === CRISPR Data ===
<button type='primary' size='small' modal='Compound_Hit'>Compound Hit</button>
<button type='default' size='small' modal='Most_Correlated_Genes'>Most Correlated Genes in Chemogenomics</button>
<button type='primary' size='small' modal='Essential_Avana'>Tissues where Essential in the Avana Dataset (DepMap 20Q1)</button>

<modal id='Compound_Hit' size='lg' title='Compound Hit'>
^Screen^Score^
|[[:results:exp31|Rifampicin 1μM R00 exp31]]|-2.32|
|[[:results:exp46|HMS-I1 1μM R01 exp46]]|-1.79|
|[[:results:exp333|All-trans-Retinoic-Acid 8μM R07 exp333]]|-1.75|
</modal>

<modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'>
No correlation found to any other genes in chemogenomics.
</modal>

<modal id='Essential_Avana' size='lg' title='Tissues where Essential in the Avana Dataset (DepMap 20Q1)'>
Global Fraction of Cell Lines Where Essential: 0/726
^Tissue^Fraction Of Cell Lines Where Essential^
|1290807.0|0/1|
|909776.0|0/1|
|bile duct|0/28|
|blood|0/28|
|bone|0/25|
|breast|0/33|
|central nervous system|0/56|
|cervix|0/4|
|colorectal|0/17|
|esophagus|0/13|
|fibroblast|0/1|
|gastric|0/15|
|kidney|0/21|
|liver|0/20|
|lung|0/75|
|lymphocyte|0/14|
|ovary|0/26|
|pancreas|0/24|
|peripheral nervous system|0/16|
|plasma cell|0/15|
|prostate|0/1|
|skin|0/24|
|soft tissue|0/7|
|thyroid|0/2|
|upper aerodigestive|0/22|
|urinary tract|0/29|
|uterus|0/5|
</modal>

== Essentiality in NALM6  ==
    * **<color #00a2e8>Essentiality Rank</color>**: 11834
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 1.12 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='AIRE Expression in NALM6 Cells: 1.12'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>