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Description for Protein CIITA

class II, major histocompatibility complex, transactivator
19 total interacting proteins; 13 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/1)
(platelet: 1)
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. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • LRR: Leucine-rich repeats, outliers
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    K08060
    KEGG - Pathway(s):
    hsa04612; hsa05340
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    MHC class II transactivator CIITA; Major histocompatibility complex class II transactivator; Class II transactivator; C2TA; MHC2TA
    Approved Symbol:
    CIITA
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 7
    Human (de-) phosphorylation sites: 7; No platelet phosphorylation sites
    Phosphorylation Targets:
    Total phosphorylation targets: 0
    Human phosphorylation targets: 0;Predicted platelet targets: 0
    		Protein Characteristics:
    Isoform-specific Information
    Icon DrugsAssociated Drugs (DrugBank Accession):

    None Available

    Associated Genetic Diseases:

  • Bare lymphocyte syndrome, type II, complementation group A(Pd);
  • Rheumatoid arthritis, susceptibility to(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 02475 Entrez Gene ID: 4261 OMIM ID: 600005 Swissprot Accession: P33076; Q66X48;