RFXANK

Interacts with RAF1 via its C-terminal ankyrin repeat domain. The same domain also mediates its homodimerization (By similarity). The third ankyrin repeat is required for association with the two other RFX subunits; RFX5 and RFXAP. The three central ANK repeats mediate binding to the PxLPxI/L motif of RFX5 (PubMed:20732328, PubMed:22649097).

Activates transcription from class II MHC promoters. Activation requires the activity of the MHC class II transactivator/CIITA. May regulate other genes in the cell. RFX binds the X1 box of MHC-II promoters (PubMed:10072068, PubMed:10725724, PubMed:9806546). May also potentiate the activation of RAF1 (By similarity).

Isoform 2 is not involved in the positive regulation of MHC class II genes.

MHC class II deficiency 2

MHC2D2

An autosomal recessive disorder characterized by immunodeficiency and recurrent bacterial, viral, fungal and parasitic infections in early infancy. Additional manifestations include failure to thrive, chronic diarrhea, and autoimmune features and allergies that may be present in some patients. Death often occurs in infancy or early childhood.

None

The disease is caused by variants affecting the gene represented in this entry.

Phosphorylated by RAF1.

Ubiquitous.

• Cytoplasm
• Nucleus

ANKRA1, RFXB, RFXANK, DNA-binding protein RFXANK, Ankyrin repeat family A protein 1, Regulatory factor X subunit B, Regulatory factor X-associated ankyrin-containing protein, RFX-B

• entrezGene:8625
• omim:603200
• swissprot:O14593

Proteins

28102Da