Rabbit anti-Human POFUT1 Polyclonal Antibody

Uniprot Id

Q9H488

Target Species

Human

Target Name

POFUT1

Target Full Name

GDP-fucose protein O-fucosyltransferase 1

Target 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).

Target Involvement

Dowling-Degos disease 2 (DDD2)

Target Subcellular Location

Endoplasmic reticulum.

Target Protein Families

Glycosyltransferase 65 family

Target Tissue Specificity

Highly expressed in heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas.

Target Synonyms

FUT 12; FUT12; GDP fucose protein O fucosyltransferase 1; GDP-fucose protein O-fucosyltransferase 1; O Fuc T; o fucosyltransferase protein; O FucT 1; O FucT; O FucT1; O FUT; O-FucT-1; OFUT 1; OFUT; OFUT1; OFUT1_HUMAN; Peptide O fucosyltransferase1; Peptide-O-fucosyltransferase 1; Pofut 1; POFUT1; Protein O fucosyltransferase1

Target Background

This gene encodes a member of the glycosyltransferase O-Fuc family. This enzyme adds O-fucose through an O-glycosidic linkage to conserved serine or threonine residues in the epidermal growth factor-like repeats of a number of cell surface and secreted proteins. O-fucose glycans are involved in ligand-induced receptor signaling. Alternative splicing of this gene results in two transcript variants encoding different isoforms.