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).

The following transcription factors affect gene expression:

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

Molecular Function:

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

Biological Processes:

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