DNA-binding protein RFX5
Domain
The N-terminus is required for dimer formation, association with RFXANK and RFXAP, assembly of the RFX complex, and for binding of this complex to its X box target site in the MHC-II promoter. The C-terminus mediates cooperative binding between the RFX complex and NF-Y.
The PxLPxI/L motif mediates interaction with ankyrin repeats of RFXANK.
Function
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.
Involvement in disease
MHC class II deficiency 3
MHC2D3
An autosomal recessive disorder characterized by immunodeficiency and recurrent bacterial, viral, fungal and parasitic infections from birth, usually affecting the respiratory and gastrointestinal tract. Most patients die in infancy or early childhood.
None
The disease is caused by variants affecting the gene represented in this entry.
MHC class II deficiency 5
MHC2D5
An autosomal recessive disorder characterized by a defect in constitutive and inducible surface expression of MHC class II molecules on B cells, monocytes, and activated T cells. Affected individuals may present in infancy with infections and hypogammaglobulinemia, but the disease course is mostly benign and patients do not develop severe infections. Some individuals may be asymptomatic.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
Phosphorylated.
Sequence Similarities
Belongs to the RFX family.
Tissue Specificity
Ubiquitous.
Cellular localization
- Nucleus
Alternative names
DNA-binding protein RFX5, Regulatory factor X 5, RFX5