CIITA - Gene info - The Human Protein Atlas

CIITA

TISSUE

SUBCELL

CELL LINE

CANCER

GENE INFORMATION

? »

Gene name	CIITA (HGNC Symbol)
Synonyms	C2TA, MHC2TA, NLRA
Description	Class II, major histocompatibility complex, transactivator (HGNC Symbol)
Entrez gene summary	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]
Chromosome	16
Cytoband	p13.13
Chromosome location (bp)	10971055 - 11026079
Protein evidence	Evidence at protein level (all genes)
Ensembl	ENSG00000179583 (version 75.37)
Entrez gene	4261
UniProt	P33076 (UniProt - Evidence at protein level)
neXtProt	NX_P33076
Antibodypedia	CIITA antibodies

PROTEIN VIEW

? »

CIITA-001		CIITA-002		CIITA-006		CIITA-008

PROTEIN INFORMATION

? »

Splice variant	Ensembl	UniProt	Protein class	Gene ontology	Length (aa)	Molecular mass (kDa)	Signal peptide (predicted)	Transmembrane regions (predicted)
CIITA-001	ENSP00000316328 ENST00000324288	P33076 Show all » « Hide P33076 [Direct mapping] MHC class II transactivator I3L2E5 [Target identity:15%; Query identity:100%] MHC class II transactivator	Show » « Hide Transferases Phobius predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins COSMIC Somatic Mutations COSMIC Translocations Enzymes ENZYME proteins Plasma proteins Cancer-related genes COSMIC somatic mutations in cancer genes Disease related genes Potential drug targets	Show » « Hide GO:0000122 [negative regulation of transcription from RNA polymerase II promoter] GO:0003713 [transcription coactivator activity] GO:0005515 [protein binding] GO:0005524 [ATP binding] GO:0005654 [nucleoplasm] GO:0006351 [transcription, DNA-templated] GO:0006954 [inflammatory response] GO:0006955 [immune response] GO:0007568 [aging] GO:0008022 [protein C-terminus binding] GO:0009986 [cell surface] GO:0016605 [PML body] GO:0019221 [cytokine-mediated signaling pathway] GO:0032403 [protein complex binding] GO:0032966 [negative regulation of collagen biosynthetic process] GO:0033613 [activating transcription factor binding] GO:0034341 [response to interferon-gamma] GO:0044212 [transcription regulatory region DNA 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 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] GO:0071257 [cellular response to electrical stimulus] GO:0071346 [cellular response to interferon-gamma] GO:0071360 [cellular response to exogenous dsRNA]	1130	123.5	No	0
CIITA-002	ENSP00000371257 ENST00000381835	E9PFE0 Show all » « Hide E9PFE0 [Target identity:100%; Query identity:100%] MHC class II transactivator	Show » « Hide COSMIC Somatic Mutations COSMIC Translocations Cancer-related genes COSMIC somatic mutations in cancer genes	Show » « Hide GO:0005515 [protein binding] GO:0005524 [ATP binding] GO:0006355 [regulation of transcription, DNA-templated]	546	59.6	No	0
CIITA-006	ENSP00000459829 ENST00000571186	I3L2P7 Show all » « Hide I3L2P7 [Target identity:100%; Query identity:100%] MHC class II transactivator	Show » « Hide COSMIC Somatic Mutations COSMIC Translocations Cancer-related genes COSMIC somatic mutations in cancer genes	Show » « Hide GO:0005524 [ATP binding] GO:0006355 [regulation of transcription, DNA-templated]	172	19.2	No	0
CIITA-008	ENSP00000459608 ENST00000576601	I3L2E5 Show all » « Hide I3L2E5 [Target identity:100%; Query identity:100%] MHC class II transactivator	Show » « Hide COSMIC Somatic Mutations COSMIC Translocations Cancer-related genes COSMIC somatic mutations in cancer genes	Show » « Hide GO:0005524 [ATP binding] GO:0034341 [response to interferon-gamma] GO:0045892 [negative regulation of transcription, DNA-templated]	177	19.8	No	0

The Human Protein Atlas project is funded by the Knut & Alice Wallenberg foundation.