Disease-gene associations mined from literature

Literature associating POFUT1 and Peters plus syndrome

POFUT1 [ENSP00000364902]

GDP-fucose protein O-fucosyltransferase 1; Catalyzes the reaction that attaches fucose through an O-glycosidic linkage to a conserved serine or threonine residue found in the consensus sequence C2-X(4,5)-[S/T]-C3 of EGF domains, where C2 and C3 are the second and third conserved cysteines. Specifically uses GDP-fucose as donor substrate and proper disulfide pairing of the substrate EGF domains is required for fucose transfer. Plays a crucial role in NOTCH signaling. Initial fucosylation of NOTCH by POFUT1 generates a substrate for FRINGE/RFNG, an acetylglucosaminyltransferase that can then extend the fucosylation on the NOTCH EGF repeats. This extended fucosylation is required for optimal ligand binding and canonical NOTCH signaling induced by DLL1 or JAGGED1. Fucosylates AGRN and determines its ability to cluster acetylcholine receptors (AChRs); Fucosyltransferases

Synonyms:  POFUT1,  POFUT1p,  hPOFUT1,  B4DUV4,  POFUT1-001 ...

Linkouts:  STRING  Pharos  UniProt  OMIM