POFUT1 : protein O-fucosyltransferase 1
Description
The POFUT1 (protein O-fucosyltransferase 1) is a protein-coding gene located on chromosome 20.
The POFUT1 gene provides instructions for making a protein called protein O-fucosyltransferase 1, which is located in the endoplasmic reticulum and involved in protein processing. This protein adds fucose sugar molecules to other proteins called Notch receptors, which are crucial for signaling pathways guiding tissue development. Fucosylation alters the shape of the Notch receptor, allowing it to bind to its ligand and trigger signaling. This process regulates cell specialization, growth, division, maturation, and self-destruction. In skin cells, Notch signaling plays a role in maintaining pigment-producing skin cells and regulating interactions between melanocytes and keratinocytes.
POFUT1 catalyzes the attachment of fucose to a conserved serine or threonine residue within the EGF domains of specific proteins. This fucosylation occurs through an O-glycosidic linkage and requires the presence of a specific consensus sequence (C2-X(4,5)-[S/T]-C3) within the EGF domain. POFUT1 utilizes GDP-fucose as a donor substrate and requires proper disulfide pairing of the EGF domain for efficient fucosylation. POFUT1 plays a crucial role in NOTCH signaling by initiating the fucosylation of NOTCH, creating a substrate for further modification by FRINGE/RFNG. This extended fucosylation is essential for optimal ligand binding and canonical NOTCH signaling triggered by DLL1 or JAGGED1. Additionally, POFUT1 fucosylates AGRN, determining its ability to cluster acetylcholine receptors (AChRs).
POFUT1 is also known as DDD2, FUT12, O-FUT, O-Fuc-T, O-FucT-1, OFUCT1.
