CIITA Antibody – Rabbit Polyclonal

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]

CIITA: a non-DNA binding transactivator that functions both in constitutive and inducible MHC Class II expression. Defects are a cause of bare lymphocyte syndrome type II (BLS II), a form of severe combined immunodeficiency disease (SCID) characterized by a profound defect in constitutive and interferon-gamma induced MHC II expression, an absence of cellular and humoral T-cell response to antigen challenge, hypogammaglobulinemia and impaired antibody production.

Protein type: DNA-binding; EC 2.7.11.1; Transcription, coactivator/corepressor

Chromosomal Location of Human Ortholog: 16p13

Cellular Component: nucleoplasm; PML body

Molecular Function: DNA binding; protein binding; protein C-terminus binding; protein complex binding; transcription activator binding; transcription coactivator activity

Biological Process: immune response; negative regulation of collagen biosynthetic process; negative regulation of transcription from RNA polymerase II promoter; negative regulation of transcription, DNA-dependent; positive regulation of MHC class I biosynthetic process; positive regulation of MHC class II biosynthetic process; positive regulation of transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-dependent; response to antibiotic

Disease: Bare Lymphocyte Syndrome, Type Ii; Rheumatoid Arthritis