Reaction: Defective ALG11 does not transfer Man to the N-glycan precursor
- in pathway: Defective ALG11 causes CDG-1p
GDP-Man:Man(3)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase (ALG11) transfers the fourth and fifth mannoses (Man) to the N-glycan precursor in an alpha-1,2 orientation. These additions are the last two on the cytosolic side of the ER membrane before the N-glycan is flipped to the luminal side of the membrane. Recently discovered defects in ALG11 have been linked to congential disorder of glycosylation, type 1p (ALG11-CDG, CGD1p) (Rind et al. 2010, Thiel et al. 2012). The disease is a multi-system disorder characterised by under-glycosylated serum glycoproteins. Mutations causing ALG11-CDG include E398K, L381S, L86S, Q318P and Y279S (Rind et al. 2010, Thiel et al. 2012).
Reaction - small molecule participants:
GDP-Man [cytosol]
(GlcNAc)2 (Man)3 (PP-Dol)1 [integral component of cytoplasmic side of endoplasmic reticulum membrane]
Reactome.org reaction link: R-HSA-4551297
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Reaction input - small molecules:
GDP-alpha-D-mannose(2-)
alpha-D-Man-(1->3)-[alpha-D-Man-(1->6)]-beta-D-Man-(1->4)-beta-D-GlcNAc-(1->4)-2-alpha-D-GlcNAc(PP-Dol)
Reaction output - small molecules:
Reactome.org link: R-HSA-4551297