Aliases for RFX1 Gene
External Ids for RFX1 Gene
Previous GeneCards Identifiers for RFX1 Gene
This gene encodes a member of the regulatory factor X (RFX) family of transcription factors, which are characterized by a winged-helix DNA-binding domain. The encoded transcription factor contains an N-terminal activation domain and a C-terminal repression domain, and may activate or repress target gene expression depending on cellular context. This transcription factor has been shown to regulate a wide variety of genes involved in immunity and cancer, including the MHC class II genes and genes that may be involved in cancer progression. This gene exhibits altered expression in glioblastoma and the autoimmune disease systemic lupus erythematosis (SLE). [provided by RefSeq, Jul 2016]
GeneCards Summary for RFX1 Gene
RFX1 (Regulatory Factor X1) is a Protein Coding gene. Diseases associated with RFX1 include Bare Lymphocyte Syndrome, Type Ii, Complementation Group C and Combined Immunodeficiency, X-Linked, Moderate. GO annotations related to this gene include RNA polymerase II core promoter proximal region sequence-specific DNA binding and transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding. An important paralog of this gene is RFX3.
UniProtKB/Swiss-Prot for RFX1 Gene
Regulatory factor essential for MHC class II genes expression. Binds to the X boxes of MHC class II genes. Also binds to an inverted repeat (ENH1) required for hepatitis B virus genes expression and to the most upstream element (alpha) of the RPL30 promoter.