POFUT2
Description
The POFUT2 (protein O-fucosyltransferase 2) is a protein-coding gene located on chromosome 21.
POFUT2 is an enzyme that attaches fucose sugars to specific serine or threonine residues within proteins containing Thrombospondin repeats. This process, known as O-fucosylation, is crucial for the proper function of many proteins, including those involved in cell signaling and development. POFUT2 is unique among glycosyltransferases as it resides in the endoplasmic reticulum rather than the Golgi apparatus. This enzyme is essential for the malaria parasite, Plasmodium falciparum, to efficiently transmit to mosquitoes and infect human liver cells.
POFUT2 catalyzes the attachment of fucose to a specific serine or threonine residue within the thrombospondin type I repeat (TSR) sequence, forming an O-glycosidic linkage. This process occurs within the consensus sequence C1-X-X-S/T-C2 of TSRs, where C1 and C2 represent the first and second cysteines of the repeat. POFUT2 modifies various protein families, including ADAMTS, thrombospondin (TSP), and spondin families. Proper secretion of ADAMTS family members, such as ADAMTSL1 and ADAMTS13, depends on POFUT2-mediated O-fucosylation. Furthermore, O-fucosylation of TSRs plays a crucial role in restricting epithelial to mesenchymal transition (EMT), ensuring correct mesoderm patterning, and accurate localization of the definitive endoderm.
POFUT2 is also known as C21orf80, FUT13.
