RFX5 Activates transcription from class II MHC promoters. Recognizes X-boxes. Mediates cooperative binding between RFX and NF-Y. RFX binds the X1 box of MHC-II promoters. Defects in RFX5 are a cause of bare lymphocyte syndrome type 2 (BLS2); also known as hereditary MHC class II deficiency or HLA class II-deficient combined immunodeficiency. BLS2 is 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. Belongs to the RFX family. Note: This description may include information from UniProtKB.
Protein type: DNA-binding; Transcription factor
Chromosomal Location of Human Ortholog: 1q21.3
Cellular Component: 
Molecular Function:  DNA binding; DNA-binding transcription activator activity, RNA polymerase II-specific; DNA-binding transcription factor activity, RNA polymerase II-specific; protein binding; sequence-specific DNA binding
Biological Process:  negative regulation of transcription by RNA polymerase II; positive regulation of transcription by RNA polymerase II
Disease: Bare Lymphocyte Syndrome, Type Ii
Reference #:  P48382 (UniProtKB)
Alt. Names/Synonyms: DNA-binding protein RFX5; Regulatory factor X 5; regulatory factor X, 5 (influences HLA class II expression); RFX5
Gene Symbols: RFX5
Molecular weight: 65,323 Da
Basal Isoelectric point: 9.35  Predict pI for various phosphorylation states
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RFX5

Protein Structure Not Found.


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