RUFY1 Gene - Function, Expression, and Disease Associations

RUFY1 (RUN and FYVE domain containing 1) encodes a protein that localizes to early endosomes and plays a critical role in endosomal trafficking, particularly in the recycling of endocytosed receptors and in the regulation of autophagy. The protein contains an N-terminal RUN domain and a C-terminal FYVE domain, which mediate interactions with small GTPases and phosphatidylinositol 3-phosphate, respectively. RUFY1 is involved in the formation of endosomal tubules and the sorting of cargo for recycling or degradation.

Tissue Expression

Cell Line Expression

Hotspot Mutations

Mutation functional classification

• Endosomal recycling

• Autophagy

• EGFR signaling

The RUFY1 protein is a 647-amino acid protein with a molecular weight of approximately 73 kDa. It contains an N-terminal RUN domain (residues 1-150) that interacts with Rab GTPases and a C-terminal FYVE domain (residues 550-600) that binds phosphatidylinositol 3-phosphate, targeting the protein to early endosomes. RUFY1 functions as a scaffold to regulate endosomal tubulation and cargo sorting, and it is implicated in the maturation of autophagosomes.