POFUT1 Antibody – Rabbit

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. [provided by RefSeq, Jul 2008]

POFUT1: Catalyzes the reaction that attaches fucose through an O-glycosidic linkage to a conserved serine or threonine residue in EGF domains. Plays a crucial role in Notch signaling. Belongs to the glycosyltransferase 68 family. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: EC 2.4.1.221; Transferase

Chromosomal Location of Human Ortholog: 20q11

Cellular Component: membrane; endoplasmic reticulum

Molecular Function: peptide-O-fucosyltransferase activity; fucosyltransferase activity

Biological Process: fucose metabolic process; nervous system development; protein amino acid O-linked glycosylation; somitogenesis; embryonic development; Notch signaling pathway; regulation of transcription, DNA-dependent; O-glycan processing; heart development; angiogenesis

Disease: Dowling-degos Disease 2