| Gene Symbol | POFUT1 |
|---|---|
| Entrez Gene | 23509 |
| Alt Symbol | DDD2, FUT12, O-FUT, O-Fuc-T, O-FucT-1, OFUCT1 |
| Species | Human |
| Gene Type | protein-coding |
| Description | protein O-fucosyltransferase 1 |
| Other Description | GDP-fucose protein O-fucosyltransferase 1|o-fucosyltransferase protein|peptide-O-fucosyltransferase 1 |
| Swissprots | Q5W185 Q9BW76 Q9H488 Q14685 E1P5M4 A8K4R8 |
| Accessions | EAW76383 EAW76384 EAW76385 Q9H488 AF375884 AAL09576 AK291033 BAF83722 AK300810 BAG62466 AK303068 BAG64185 AL832023 BC000582 AAH00582 BC017669 D80002 BAA11497 XR_430297 NM_015352 NP_056167 NM_172236 NP_758436 |
| Function | 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). {ECO:0000269|PubMed:11524432, ECO:0000269|PubMed:8358148}. |
| Subcellular Location | Endoplasmic reticulum {ECO:0000250}. |
| Tissue Specificity | Highly expressed in heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas. {ECO:0000269|PubMed:11524432}. |
| Top Pathways | Other types of O-glycan biosynthesis |