CIITA gene information - The Human Protein Atlas

GENERAL INFORMATIONⁱ General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene nameⁱ Official gene symbol, which is typically a short form of the gene name, according to HGNC.	CIITA
Synonyms	C2TA, MHC2TA, NLRA
Gene descriptionⁱ Full gene name according to HGNC.	Class II major histocompatibility complex transactivator
Protein classⁱ Assigned HPA protein class(es) for the encoded protein(s).	Cancer-related genes Disease related genes Enzymes Human disease related genes Plasma proteins Potential drug targets
Predicted locationⁱ All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions. Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached. Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s). The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.	Intracellular
Protein evidence	Evidence at protein level (all genes)

GENE INFORMATIONⁱ Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome	16
Cytoband	p13.13
Chromosome location (bp)	10866222 - 10943021
Number of transcriptsⁱ Number of protein-coding transcripts from the gene as defined by Ensembl.	7
Ensembl	ENSG00000179583 (version 109)
Entrez gene	4261
HGNC	HGNC:7067
UniProt	P33076 (UniProt - Evidence at protein level)
neXtProt	NX_P33076
GeneCards	CIITA
Antibodypedia	CIITA antibodies

PROTEIN FUNCTION
Protein function (UniProt)ⁱ Useful information about the protein provided by UniProt.	Essential for transcriptional activity of the HLA class II promoter; activation is via the proximal promoter 1, 2, 3, 4. Does not bind DNA 5, 6, 7, 8. 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 9, 10, 11, 12. Alternatively it may activate HLA class II transcription by modifying proteins that bind to the MHC class II promoter 13, 14, 15, 16. 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. Activates CD74 transcription 17. Exhibits intrinsic GTP-stimulated acetyltransferase activity 18. 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) 19. Has antiviral activity against Ebola virus and coronaviruses, including SARS-CoV-2 20. Induces resistance by up-regulation of the p41 isoform of CD74, which blocks cathepsin-mediated cleavage of viral glycoproteins, thereby preventing viral fusion 21.... show less
Molecular function (UniProt)ⁱ Keywords assigned by UniProt to proteins due to their particular molecular function.	Activator, Acyltransferase, Kinase, Transferase
Biological process (UniProt)ⁱ Keywords assigned by UniProt to proteins because they are involved in a particular biological process.	Transcription, Transcription regulation
Ligand (UniProt)ⁱ Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.	ATP-binding, GTP-binding, Nucleotide-binding
Gene summary (Entrez)ⁱ Useful information about the gene from Entrez	This gene encodes a protein with an acidic transcriptional activation domain, 4 LRRs (leucine-rich repeats) and a GTP binding domain. The protein is located in the nucleus and acts as a positive regulator of class II major histocompatibility complex gene transcription, and is referred to as the ""master control factor"" for the expression of these genes. The protein also binds GTP and uses GTP binding to facilitate its own transport into the nucleus. Once in the nucleus it does not bind DNA but rather uses an intrinsic acetyltransferase (AT) activity to act in a coactivator-like fashion. Mutations in this gene have been associated with bare lymphocyte syndrome type II (also known as hereditary MHC class II deficiency or HLA class II-deficient combined immunodeficiency), increased susceptibility to rheumatoid arthritis, multiple sclerosis, and possibly myocardial infarction. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2013]... show less

PROTEIN INFORMATIONⁱ The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database. The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database. The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class. The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Splice variant	SwissProt	TrEMBL	Protein class	Gene ontology	Length & mass	Signal peptide (predicted)	Transmembrane regions (predicted)
CIITA-201 ENSP00000316328 ENST00000324288		A0A0B4J1S1 [Direct mapping] MHC class II transactivator Show all	Phobius predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Human disease related genes Immune system diseases Allergies and autoimmune diseases Primary immunodeficiency Show all	GO:0000122 [negative regulation of transcription by RNA polymerase II] GO:0005515 [protein binding] GO:0005524 [ATP binding] GO:0005654 [nucleoplasm] GO:0005829 [cytosol] GO:0006355 [regulation of DNA-templated transcription] GO:0006954 [inflammatory response] GO:0007568 [aging] GO:0009986 [cell surface] GO:0034341 [response to type II interferon] GO:0045348 [positive regulation of MHC class II biosynthetic process] GO:0045892 [negative regulation of DNA-templated transcription] GO:0045944 [positive regulation of transcription by RNA polymerase II] GO:0071257 [cellular response to electrical stimulus] GO:0071346 [cellular response to interferon-gamma] GO:0071360 [cellular response to exogenous dsRNA] Show all	1130 aa 123.4 kDa	No	0
CIITA-202 ENSP00000371257 ENST00000381835	P33076 [Direct mapping] MHC class II transactivator Show all		Enzymes ENZYME proteins Transferases Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Disease related genes Potential drug targets Human disease related genes Immune system diseases Allergies and autoimmune diseases Primary immunodeficiency Mapped to neXtProt neXtProt - Evidence at protein level Show all	GO:0000122 [negative regulation of transcription by RNA polymerase II] GO:0000166 [nucleotide binding] GO:0000976 [transcription cis-regulatory region binding] GO:0003713 [transcription coactivator activity] GO:0004674 [protein serine/threonine kinase activity] GO:0005515 [protein binding] GO:0005524 [ATP binding] GO:0005525 [GTP binding] GO:0005634 [nucleus] GO:0005654 [nucleoplasm] GO:0005829 [cytosol] GO:0006355 [regulation of DNA-templated transcription] GO:0006954 [inflammatory response] GO:0006955 [immune response] GO:0008022 [protein C-terminus binding] GO:0016301 [kinase activity] GO:0016310 [phosphorylation] GO:0016605 [PML body] GO:0016740 [transferase activity] GO:0016746 [acyltransferase activity] GO:0032966 [negative regulation of collagen biosynthetic process] GO:0034341 [response to type II interferon] GO:0044877 [protein-containing complex binding] 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 DNA-templated transcription] GO:0045893 [positive regulation of DNA-templated transcription] GO:0045944 [positive regulation of transcription by RNA polymerase II] GO:0046597 [negative regulation of viral entry into host cell] GO:0046677 [response to antibiotic] GO:0106310 [protein serine kinase activity] GO:0140297 [DNA-binding transcription factor binding] Show all	546 aa 59.6 kDa	No	0
CIITA-212 ENSP00000459608 ENST00000576601		I3L2E5 [Direct mapping] MHC class II transactivator Show all	Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Human disease related genes Immune system diseases Allergies and autoimmune diseases Primary immunodeficiency Show all	GO:0005524 [ATP binding] GO:0006355 [regulation of DNA-templated transcription] Show all	177 aa 19.7 kDa	No	0
CIITA-214 ENSP00000485010 ENST00000618327		A0A087X2I7 [Direct mapping] MHC class II transactivator Show all	Phobius predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Human disease related genes Immune system diseases Allergies and autoimmune diseases Primary immunodeficiency Show all	GO:0005515 [protein binding] GO:0005524 [ATP binding] GO:0005654 [nucleoplasm] GO:0005829 [cytosol] GO:0006355 [regulation of DNA-templated transcription] Show all	1131 aa 123.5 kDa	No	0
CIITA-215 ENSP00000490205 ENST00000636238		A0A1B0GUQ8 [Direct mapping] MHC class II transactivator Show all	Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Human disease related genes Immune system diseases Allergies and autoimmune diseases Primary immunodeficiency Show all	GO:0005524 [ATP binding] GO:0006355 [regulation of DNA-templated transcription] Show all	139 aa 15.8 kDa	No	0
CIITA-216 ENSP00000489907 ENST00000637439		A0A1B0GU01 [Direct mapping] MHC class II transactivator Show all	Phobius predicted secreted proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Human disease related genes Immune system diseases Allergies and autoimmune diseases Primary immunodeficiency Show all	GO:0005524 [ATP binding] GO:0006355 [regulation of DNA-templated transcription] Show all	260 aa 28.8 kDa	No	0
CIITA-218 ENSP00000496240 ENST00000646979		A0A2R8Y7F5 [Direct mapping] MHC class II transactivator Show all	Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Human disease related genes Immune system diseases Allergies and autoimmune diseases Primary immunodeficiency Show all	GO:0005515 [protein binding] Show all	81 aa 9 kDa	No	0