CIITA (MHC class II transactivator)

2000-07-01   Jean-Loup Huret  

Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

Identity

HGNC
CIITA
LOCATION
16p13.13
LOCUSID
4261
ALIAS
C2TA,CIITAIV,MHC2TA,NLRA
FUSION GENES
Show Gene Fusions

DNA/RNA

Transcription

6.7 kb mRNA; coding sequence: 3392 bp

Proteins

Description

1130 amino acids

Function

non-DNA-binding transcriptional coactivator; highly regulated; IFN-gamma-inducible; transactivator of the major histocompatibility complex (MHC) class II genes, herein the name; DM and Ii (molecules associated to MHC class II) are also regulated by MHC2TA; MHC2TA also transactivates MHC class I; lymphoid cells of MHC2TA-null mice do not express MHC class II

Implicated in

Entity name
t(3;16)(q27;p13)/ BCL6
Disease
non-Hodgkin lymphoma
Prognosis
yet unknown (only 1case available with certainty)
Hybrid gene
5 MHC2TA - 3 BCL6; MHC2TA fuses with the second exon of BCL6
Fusion protein
no fusion protein, but promoter exchange
Oncogenesis
BCL6 is a transcription repressor; it is supposed that substitution of the promoter of BCL6 may be responsible for BCL6 deregulation
Entity name
bare lymphocyte syndrome (BLS)
Note
at least five complementation groups
Disease
severe immunodeficiency due to failure to express MHC class II genes

Bibliography

Pubmed IDLast YearTitleAuthors
106140031999The class II transactivator CIITA is a transcriptional integrator.Fontes JD et al
108459132000Synergistic induction of HLA class I expression by RelA and CIITA.Girdlestone J et al
108096732000CIITA is a transcriptional coactivator that is recruited to MHC class II promoters by multiple synergistic interactions with an enhanceosome complex.Masternak K et al
84028931993Complementation cloning of an MHC class II transactivator mutated in hereditary MHC class II deficiency (or bare lymphocyte syndrome).Steimle V et al
96009541998CIITA stimulation of transcription factor binding to major histocompatibility complex class II and associated promoters in vivo.Wright KL et al
106375101999Identification of heterologous translocation partner genes fused to the BCL6 gene in diffuse large B-cell lymphomas: 5'-RACE and LA - PCR analyses of biopsy samples.Yoshida S et al

Other Information

Locus ID:

NCBI: 4261
MIM: 600005
HGNC: 7067
Ensembl: ENSG00000179583

Variants:

dbSNP: 4261
ClinVar: 4261
TCGA: ENSG00000179583
COSMIC: CIITA

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000179583ENST00000324288A0A0B4J1S1
ENSG00000179583ENST00000381835P33076
ENSG00000179583ENST00000571186I3L2P7
ENSG00000179583ENST00000576601I3L2E5
ENSG00000179583ENST00000618207Q29704
ENSG00000179583ENST00000618327A0A087X2I7
ENSG00000179583ENST00000636238A0A1B0GUQ8
ENSG00000179583ENST00000637439A0A1B0GU01
ENSG00000179583ENST00000644232A0A2R8YFU9
ENSG00000179583ENST00000646979A0A2R8Y7F5

Expression (GTEx)

0
5
10
15
20
25
30
35
40
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Antigen processing and presentationKEGGko04612
Primary immunodeficiencyKEGGko05340
Antigen processing and presentationKEGGhsa04612
Primary immunodeficiencyKEGGhsa05340
ToxoplasmosisKEGGko05145
ToxoplasmosisKEGGhsa05145
TuberculosisKEGGko05152
TuberculosisKEGGhsa05152
Influenza AKEGGko05164
Influenza AKEGGhsa05164
Immune SystemREACTOMER-HSA-168256
Cytokine Signaling in Immune systemREACTOMER-HSA-1280215
Interferon SignalingREACTOMER-HSA-913531
Interferon gamma signalingREACTOMER-HSA-877300

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil

References

Pubmed IDYearTitleCitations
380731292024The intrinsically disordered transcriptional activation domain of CIITA is functionally tuneable by single substitutions: An exception or a new paradigm?3
380731292024The intrinsically disordered transcriptional activation domain of CIITA is functionally tuneable by single substitutions: An exception or a new paradigm?3
371083682023NLRC5-CIITA Fusion Protein as an Effective Inducer of MHC-I Expression and Antitumor Immunity.2
374679682023The NLR member CIITA: Master controller of adaptive and intrinsic immunity and unexpected tool in cancer immunotherapy.6
371083682023NLRC5-CIITA Fusion Protein as an Effective Inducer of MHC-I Expression and Antitumor Immunity.2
374679682023The NLR member CIITA: Master controller of adaptive and intrinsic immunity and unexpected tool in cancer immunotherapy.6
358356552022Novel missense variant of CIITA contributing to endometriosis.1
362237472022Cancer-specific T helper shared and neo-epitopes uncovered by expression of the MHC class II master regulator CIITA.4
358356552022Novel missense variant of CIITA contributing to endometriosis.1
362237472022Cancer-specific T helper shared and neo-epitopes uncovered by expression of the MHC class II master regulator CIITA.4
334990422021The MHC Class II Transactivator CIITA: Not (Quite) the Odd-One-Out Anymore among NLR Proteins.32
337541732021HLA-DRB1 genes and the expression dynamics of HLA CIITA determine the susceptibility to T2DM.3
341801452021CIITA gene polymorphism (rs3087456) in systemic lupus erythematosus and rheumatoid arthritis: A population-based cohort study.0
334990422021The MHC Class II Transactivator CIITA: Not (Quite) the Odd-One-Out Anymore among NLR Proteins.32
337541732021HLA-DRB1 genes and the expression dynamics of HLA CIITA determine the susceptibility to T2DM.3

Citation

Jean-Loup Huret

CIITA (MHC class II transactivator)

Atlas Genet Cytogenet Oncol Haematol. 2000-07-01

Online version: http://atlasgeneticsoncology.org/gene/260/js/lib/css/lib/css/template-nav.css