Homo sapiens Protein: CIITA
Summary
InnateDB Protein IDBP-14385.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol CIITA
Protein Name class II, major histocompatibility complex, transactivator
Synonyms C2TA; CIITAIV; MHC2TA; NLRA;
Species Homo sapiens
Ensembl Protein ENSP00000316328
InnateDB Gene IDBG-14377 (CIITA)
Protein Structure
UniProt Annotation
Function Essential 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:0000269PubMed:11172716, ECO:0000269PubMed:16600381, ECO:0000269PubMed:17493635, ECO:0000269PubMed:24036077}.
Subcellular Localization Nucleus {ECO:0000269PubMed:23007646}. Nucleus, PML body {ECO:0000269PubMed:23007646}. Note=Recruited to PML body by PML.
Disease Associations Bare 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:0000269PubMed:10501838, ECO:0000269PubMed:11466404, ECO:0000269PubMed:11862382, ECO:0000269PubMed:7749984, ECO:0000269PubMed:8402893}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 69 experimentally validated interaction(s) in this database.
They are also associated with 19 interaction(s) predicted by orthology.
Experimentally validated
Total 69 [view]
Protein-Protein 28 [view]
Protein-DNA 41 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 19 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0003713 transcription coactivator activity
GO:0005515 protein binding
GO:0005524 ATP binding
GO:0005525 GTP binding
GO:0008022 protein C-terminus binding
GO:0016301 kinase activity
GO:0016746 transferase activity, transferring acyl groups
GO:0032403 protein complex binding
GO:0033613 activating transcription factor binding
GO:0044212 transcription regulatory region DNA binding
Biological Process
GO:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0006351 transcription, DNA-templated
GO:0006955 immune response
GO:0016310 phosphorylation
GO:0019221 cytokine-mediated signaling pathway
GO:0032966 negative regulation of collagen biosynthetic process
GO:0034341 response to interferon-gamma
GO:0045345 positive regulation of MHC class I biosynthetic process
GO:0045348 positive regulation of MHC class II biosynthetic process
GO:0045892 negative regulation of transcription, DNA-templated
GO:0045893 positive regulation of transcription, DNA-templated
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0046677 response to antibiotic
GO:0060333 interferon-gamma-mediated signaling pathway
Cellular Component
GO:0005654 nucleoplasm
GO:0016605 PML body
Protein Structure and Domains
PDB ID
InterPro IPR003590 Leucine-rich repeat, ribonuclease inhibitor subtype
IPR007111 NACHT nucleoside triphosphatase
IPR008095 MHC class II transactivator
IPR027417 P-loop containing nucleoside triphosphate hydrolase
PFAM
PRINTS PR01719
PIRSF
SMART SM00368
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt P33076
PhosphoSite PhosphoSite-P33076
TrEMBL
UniProt Splice Variant
Entrez Gene 4261
UniGene Hs.716787
RefSeq NP_000237
HUGO HGNC:7067
OMIM 600005
CCDS CCDS10544
HPRD 02475
IMGT
EMBL AC133065 AF410154 AY084054 CH471112 EF064747 U18259 U18288 X74301
GenPept AAA88861 AAA88862 AAL04118 AAM15723 ABK41930 CAA52354 EAW85169 EAW85172 EAW85173