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  3. CIITA

CIITA (Class II major histocompatibility complex transactivator)

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Summary of CIITA

This gene encodes a protein that acts as a positive regulator of class II major histocompatibility complex gene transcription. It also binds GTP. Mutations can cause arthritis and susceptibility to infections (R). 

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The Function of CIITA

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).

Protein names

Recommended name:

MHC class II transactivator

Short name:

CIITA

CIITA SNPs

    To see your genotype, you should be logged in and have a file with your genotype uploaded.

  1. RS3087456 (CIITA) ??
  2. RS4774 (CIITA) ??
  3. RS4781011 (CIITA) ??
  4. RS7197779 (CIITA) ??
  5. RS8046121 (CIITA) ??

Top Gene-Substance Interactions

CIITA Interacts with These Diseases

Disease Score

Substances That Increase CIITA

Substances Interaction Organism Category

Substances That Decrease CIITA

Substances Interaction Organism Category

Advanced Summary

     Covered on Genetics Home Reference: autoimmune Addison diseaseFrom NCBI Gene: SCID due to absent class II HLA antigensRheumatoid arthritisFrom UniProt: Bare lymphocyte syndrome 2 (BLS2): 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. [MIM:209920]

     From NCBI Gene: 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] From UniProt: 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).

Conditions with Increased Gene Activity

Condition Change (log2fold) Comparison Species Experimental variables Experiment name

Conditions with Decreased Gene Activity

Condition Change (log2fold) Comparison Species Experimental variables Experiment name

Technical

The following transcription factors affect gene expression:

  • CREB
  • deltaCREB
  • C/EBPbeta
  • C/EBPalpha
  • IRF-1
  • STAT1
  • STAT1beta
  • STAT1alpha
  • IRF-2

Gene Pathways:

  • Immune System
  • Tuberculosis
  • Toxoplasmosis
  • Antigen processing and presentation
  • Primary immunodeficiency

Molecular Function:

  • Activating Transcription Factor Binding
  • Atp Binding
  • Gtp Binding
  • Protein Complex Binding
  • Protein C-Terminus Binding
  • Transcription Coactivator Activity
  • Transcription Regulatory Region Dna Binding
  • Transferase Activity, Transferring Acyl Groups

Biological Processes:

  • Immune Response
  • Interferon-Gamma-Mediated Signaling Pathway
  • Negative Regulation Of Collagen Biosynthetic Process
  • Negative Regulation Of Transcription, Dna-Templated
  • Negative Regulation Of Transcription From Rna Polymerase Ii Promoter
  • Positive Regulation Of Mhc Class I Biosynthetic Process
  • Positive Regulation Of Mhc Class Ii Biosynthetic Process
  • Positive Regulation Of Transcription, Dna-Templated
  • Positive Regulation Of Transcription From Rna Polymerase Ii Promoter
  • Response To Antibiotic
  • Response To Interferon-Gamma
  • Transcription, Dna-Templated
*synonyms

Synonyms/Aliases/Alternative Names of the Gene:

hypothetical protein| A306_06993| AS27_15102| AS28_14478| C2TA| CB1_001431001| CIITAIV| class II, major histocompatibility complex, transactivator| class II transactivator| D623_10019170| EG669998| H920_17597| I79_002131| M91_05218| M959_02439| Mhc2ta| MHC class II transactivator| MHC class II transactivator type I| MHC class II transactivator type III| MHC class II transactivator type IV| N300_08905| N301_01354| N302_11692| N303_11898| N305_02916| N306_05517| N307_08120| N308_08940| N310_07374| N312_08301| N320_08745| N321_08233| N322_07998| N324_10952| N325_08517| N326_01572| N328_10906| N330_11207| N331_11195| N332_02867| N333_01869| N334_03906| N335_04278| N336_09342| N339_08406| N340_14342| N341_00016| NLRA| NLR family, acid domain containing| nucleotide-binding oligomerization domain, leucine rich repeat and acid domain containing| TREES_T100018465| UY3_05450| Y1Q_005491| Y956_05218| Z169_02503| ciita

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