POFUT2

POFUT2 (Protein O-Fucosyltransferase 2) is a protein coding gene. Diseases associated with POFUT2 include Peters-Plus Syndrome. Among its related pathways are O-linked glycosylation and Metabolism of proteins. Gene Ontology annotations related to this gene include fucosyltransferase activity and peptide-O-fucosyltransferase activity.

Full Name

Protein O-Fucosyltransferase 2

Function

Catalyzes the reaction that attaches fucose through an O-glycosidic linkage to a conserved serine or threonine residue in the consensus sequence C1-X-X-S/T-C2 of thrombospondin type I repeats (TSRs) where C1 and C2 are the first and second cysteines of the repeat, respectively (PubMed:22588082).
O-fucosylates members of several protein families including the ADAMTS, the thrombospondin (TSP) and spondin families (Probable) (PubMed:17395588).
Required for the proper secretion of ADAMTS family members such as ADAMTSL1 and ADAMTS13 (PubMed:17395589, PubMed:17395588).
The O-fucosylation of TSRs is also required for restricting epithelial to mesenchymal transition (EMT), maintaining the correct patterning of mesoderm and localization of the definite endoderm (By similarity).

Biological Process

Fucose metabolic processIEA:UniProtKB-KW
Mesoderm formationIEA:Ensembl
Positive regulation of protein foldingManual Assertion Based On ExperimentIMP:CACAO
Protein O-linked fucosylationManual Assertion Based On ExperimentIDA:UniProtKB
Regulation of epithelial to mesenchymal transitionIEA:Ensembl
Regulation of gene expressionIEA:Ensembl
Regulation of secretionManual Assertion Based On ExperimentIDA:UniProtKB

Cellular Location

Endoplasmic reticulum
Golgi apparatus
Mainly located in the endoplasmic reticulum.