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

Stable Identifier
R-HSA-5617037
Type
Reaction [transition]
Species
Homo sapiens
Compartment
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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

Yoshida, A, Kobayashi, K, Manya, H, Taniguchi, K, Kano, H, Mizuno, M, Inazu, T, Mitsuhashi, H, Takahashi, S, Takeuchi, M, Herrmann, R, Straub, V, Talim, B, Voit, T, Topaloglu, H, Toda, T, Endo, T

Dev. Cell 2001
Participants
Participant Of
Catalyst Activity
Catalyst Activity
Title
beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity of POMGNT1 [Golgi membrane]
Physical Entity
Activity
Orthologous Events
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Reviewed
Created