Protein O-Fucosyltransferase 1 (POFUT1)

O-FUT; O-Fuc-T; FUT12; GDP-Fucose Protein O-Fucosyltransferase 1; Peptide-O-fucosyltransferase 1

SPN	U772
HGNC	14988
MGI	2153207
PubMed	23684010
RGD	1303001
UniProt	Q9H488
Wiki	POFUT1

-fucosyltransferase 1 (POFUT1) is an enzyme responsible for adding fucose sugars in O linkage to serine or threonine residues between the second and third conserved cysteines in EGF-like repeats on the Notch protein. The protein is an inverting glycosyltransferase, which means that the enzyme uses GDP-beta-L-fucose as a donor substrate and transfers the fucose in O linkage to the protein producing fucose-alpha-O-serine/threonine.

When the gene for POFUT1 is knocked out, or the expression is decreased to very low levels, all Notch signaling is destroyed, which means that fucose on Notch is absolutely essential for Notch function. Why this is the case is not yet well understood.Almost all glycosyltransferases reside in the Golgi apparatus.

Reference

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"Mutations in POFUT1, encoding protein O-fucosyltransferase 1, cause generalized Dowling-Degos disease."
Am. J. Hum. Genet. 92:895-903(2013) [PubMed] [Europe PMC] [Abstract]