PMID:25544610

Citation	Vasudevan, D, Takeuchi, H, Johar, SS, Majerus, E and Haltiwanger, RS (2015) Peters plus syndrome mutations disrupt a noncanonical ER quality-control mechanism. Curr. Biol. 25:286-95
Abstract	O-fucose is added to cysteine-rich domains called thrombospondin type 1 repeats (TSRs) by protein O-fucosyltransferase 2 (POFUT2) and is elongated with glucose by β3-glucosyltransferase (B3GLCT). Mutations in B3GLCT result in Peters plus syndrome (PPS), an autosomal recessive disorder characterized by eye and other developmental defects. Although 49 putative targets are known, the function of the disaccharide and its role in PPS remain unexplored.
Links	PubMed PMC4318717 Online version:10.1016/j.cub.2014.11.049
Keywords	Blotting, Western; Cleft Lip/genetics; Cleft Lip/metabolism; Cornea/abnormalities; Cornea/metabolism; Endoplasmic Reticulum/genetics; Endoplasmic Reticulum/physiology; Fucose/metabolism; Fucosyltransferases/metabolism; Galactosyltransferases/genetics; Galactosyltransferases/metabolism; Glucose/metabolism; Glucosyltransferases/genetics; Glucosyltransferases/metabolism; Growth Disorders/genetics; Growth Disorders/metabolism; HEK293 Cells; Humans; Immunoprecipitation; Limb Deformities, Congenital/genetics; Limb Deformities, Congenital/metabolism; Models, Biological; Mutation/genetics; Oxidation-Reduction; Protein Folding; RNA, Small Interfering/genetics; Thrombospondin 1/metabolism
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Annotations

Gene product	Qualifier	GO Term	Evidence Code	with/from	Aspect	Extension	Notes	Status
HUMAN:OFUT2		GO:1903334: positive regulation of protein folding	ECO:0000315:		P		Figure 5 shows that O-fucosylation by POFUT 2 increases the rate of TSR domain folding. TSR is a domain found in ADAMTS proteins.	complete CACAO 12119
HUMAN:OFUT2		GO:0046922: peptide-O-fucosyltransferase activity	ECO:0000018:		F		Fig. 2A shows that O-fucosylation (identified by the use of 6-alkynylfucose) by POFUT2 occurs in the ER of human cells. EndoH digests only immature/incompletely-glycosylated proteins that are found only in the ER.	complete CACAO 13663
HUMAN:OFUT2		GO:1990773: matrix metallopeptidase secretion	ECO:0000018:		P		Fig. 1 A and B show that POFUT2 is required for secretion of ADAMTS13, ADAMTSL1 and 2, and TSP1 targets in Human cells.	complete CACAO 13650
HUMAN:OFUT2		GO:0036066: protein O-linked fucosylation	ECO:0000018 :		P		Fig. 2A shows that O-fucosylation (identified by the use of 6-alkynylfucose) by POFUT2 occurs in the ER of human cells. EndoH digests only immature/incompletely-glycosylated proteins that are found only in the ER.	complete CACAO 13652
HUMAN:OFUT2		GO:0033577: protein glycosylation in endoplasmic reticulum	ECO:0000279:		P		Fig. 2A shows that O-fucosylation (identified by the use of 6-alkynylfucose) by POFUT2 occurs in the ER of human cells. EndoH digests only immature/incompletely-glycosylated proteins that are found only in the ER.	complete CACAO 13653
HUMAN:B3GLT		GO:1990773: matrix metallopeptidase secretion	ECO:0000018:		P		Fig. 1 A and B show that B3GLCT is required for secretion of ADAMTSL1 and 2 and TSP1 targets in Human cells.	complete CACAO 13651

References

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