Reactome | POMGNT1 transfers GlcNAc from UDP-GlcNAc to Man-O-Ser-DAG1

POMGNT1 transfers GlcNAc from UDP-GlcNAc to Man-O-Ser-DAG1

Stable Identifier

R-HSA-5617037

Type

Reaction [transition]

Species

Homo sapiens

Compartment

Golgi lumen, Golgi membrane

ReviewStatus

5/5

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POMGNT1 transfers GlcNAc from UDP-GlcNAc to Man-O-Ser-DAG1

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Golgi membrane resident protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1 (POMGNT1; MIM:606822) mediates the transfer of N-acetylglucosaminyl (GlcNAc) residues to mannosylated proteins in the Golgi lumen. It can transfer GlcNAc to mannose-O-serine-dystroglycan (Man-DAG1) with a beta-1,2 linkage. Defects in POMGNT1 result in disrupted glycosylation of DAG1 and can cause congenital muscular dystrophy-dystroglycanopathies of varying severity (Yoshida et al. 2001).

Literature References

PubMed ID	Title	Journal	Year
11709191	Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1 Inazu, T, Kano, H, Kobayashi, K, Voit, T, Endo, T, Manya, H, Topaloglu, H, Straub, V, Mizuno, M, Toda, T, Mitsuhashi, H, Yoshida, A, Takahashi, S, Talim, B, Herrmann, R, Takeuchi, M, Taniguchi, K	Dev. Cell	2001