RFXAP

Major histocompatibility (MHC) class II molecules are transmembrane proteins that have a central role in development and control of the immune system. The protein encoded by this gene, along with regulatory factor X-associated ankyrin-containing protein and regulatory factor-5, forms a complex that binds to the X box motif of certain MHC class II gene promoters and activates their transcription. Once bound to the promoter, this complex associates with the non-DNA-binding factor MHC class II transactivator, which controls the cell type specificity and inducibility of MHC class II gene expression. Mutations in this gene have been linked to bare lymphocyte syndrome type II, complementation group D. Transcript variants utilizing different polyA signals have been found for this gene. [provided by RefSeq]

Full Name

regulatory factor X-associated protein

Function

Part of the RFX complex that binds to the X-box of MHC II promoters.

Biological Process

Biological Process positive regulation of MHC class II biosynthetic process1 PublicationIC:ComplexPortal
Biological Process positive regulation of transcription by RNA polymerase IIManual Assertion Based On ExperimentIDA:GO_Central
Biological Process regulation of transcription by RNA polymerase IIManual Assertion Based On ExperimentIBA:GO_Central

Cellular Location

Nucleus

Involvement in disease

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.

PTM

Phosphorylated.