MGP Database

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MGP001923

UniProt Annotations

Entry Information
Gene Nameclass II, major histocompatibility complex, transactivator
Protein Entry
UniProt ID
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=4; Name=1; IsoId=P33076-1; Sequence=Displayed; Name=2; IsoId=P33076-2; Sequence=VSP_055099, VSP_055102, VSP_055103; Name=3; Synonyms=hCIITA'; IsoId=P33076-3; Sequence=VSP_055099, VSP_055100, VSP_055101; Note=Exhibits dominant-negative suppression of MHC class II gene expression.; Name=4; IsoId=P33076-4; Sequence=VSP_055102, VSP_055103;
Catalytic ActivityATP + a protein = ADP + a phosphoprotein. {ECO:0000269|PubMed:24036077}.
DiseaseBare lymphocyte syndrome 2 (BLS2) [MIM:209920]: A severe combined immunodeficiency disease with early onset. It is characterized by a profound defect in constitutive and interferon- gamma induced MHC II expression, absence of cellular and humoral T-cell response to antigen challenge, hypogammaglobulinemia and impaired antibody production. The consequence include extreme susceptibility to viral, bacterial and fungal infections. {ECO:0000269|PubMed:10501838, ECO:0000269|PubMed:11466404, ECO:0000269|PubMed:11862382, ECO:0000269|PubMed:7749984, ECO:0000269|PubMed:8402893}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DomainThe acetyltransferase domain is necessary for activation of both class I and class II transcription.
DomainThe GTP-binding motif doesn't confer GTPase activity but promotes nuclear localization.
FunctionEssential for transcriptional activity of the HLA class II promoter; activation is via the proximal promoter. No DNA binding of in vitro translated CIITA was detected. May act in a coactivator-like fashion through protein-protein interactions by contacting factors binding to the proximal MHC class II promoter, to elements of the transcription machinery, or both. Alternatively it may activate HLA class II transcription by modifying proteins that bind to the MHC class II promoter. Also mediates enhanced MHC class I transcription; the promoter element requirements for CIITA-mediated transcription are distinct from those of constitutive MHC class I transcription, and CIITA can functionally replace TAF1 at these genes. Exhibits intrinsic GTP-stimulated acetyltransferase activity. Exhibits serine/threonine protein kinase activity: can phosphorylate the TFIID component TAF7, the RAP74 subunit of the general transcription factor TFIIF, histone H2B at 'Ser-37' and other histones (in vitro). {ECO:0000269|PubMed:11172716, ECO:0000269|PubMed:16600381, ECO:0000269|PubMed:17493635, ECO:0000269|PubMed:24036077}.
InteractionQ96EB6:SIRT1; NbExp=4; IntAct=EBI-1538819, EBI-1802965; P98168:ZXDA; NbExp=4; IntAct=EBI-1538819, EBI-1538980; Q2QGD7:ZXDC; NbExp=6; IntAct=EBI-1538819, EBI-1538838;
PtmAutophosphorylated, affecting interaction with TAF7.
SimilarityContains 1 NACHT domain. {ECO:0000255|PROSITE- ProRule:PRU00136}.
SimilarityContains 4 LRR (leucine-rich) repeats. {ECO:0000305}.
Subcellular LocationNucleus {ECO:0000269|PubMed:23007646}. Nucleus, PML body {ECO:0000269|PubMed:23007646}. Note=Recruited to PML body by PML.
SubunitInteracts with ZXDA and ZXDC. Interacts with PML (isoform PML-2). {ECO:0000269|PubMed:16600381, ECO:0000269|PubMed:17493635, ECO:0000269|PubMed:23007646}.
Web ResourceName=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/MHC2TAID260.html";
Web ResourceName=CIITAbase; Note=CIITA mutation db; URL="http://structure.bmc.lu.se/idbase/CIITAbase/";
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