POFUT1

POFUT1 encodes protein O-fucosyltransferase 1. Although two types of O-Fuc modifications are known in vivo, POFUT1 transfer Fuc directly toward Ser or Thr in epidermal growth factor-like (EGF) repeats domains of Notch receptors. The C-terminus of the amino acid sequence of POFUT1 contains an ER-retaining sequence, and this reaction is thought to be occured in the endoplasmic reticulum. POFUT1 also retains chaperone activity independent of its enzymatic activity, suggesting that it is also involved in the folding of the EGF domain. The O-Fuc glycans to the EGF-like domain are essential for Notch receptor function. It is the causative gene of Dowling-Degos disease 2, a human hereditary skin