Protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1

Definition:

Participates in O-mannosyl glycosylation by catalyzing the addition of N-acetylglucosamine to O-linked mannose on glycoproteins. Catalyzes the synthesis of the GlcNAc(beta1-2)Man(alpha1-)O-Ser/Thr moiety on alpha-dystroglycan and other O-mannosylated proteins, providing the necessary basis for the addition of further carbohydrate moieties. Is specific for alpha linked terminal mannose and does not have MGAT3, MGAT4, MGAT5, MGAT7 or MGAT8 activity.

References:

[1]. Mingchu Xu, et al. Mutations in POMGNT1 cause non-syndromic retinitis pigmentosa. Hum Mol Genet. 2016 Apr 15;25(8):1479-88. [Content Brief]

[2]. A Yoshida, et al. Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1. Dev Cell. 2001 Nov;1(5):717-24. [Content Brief]

[3]. Ida Signe Bohse Larsen, et al. Mammalian O-mannosylation of cadherins and plexins is independent of protein O-mannosyltransferases 1 and 2. J Biol Chem. 2017 Jul 7;292(27):11586-11598. [Content Brief]

[4]. Naoyuki Kuwabara, et al. Carbohydrate-binding domain of the POMGnT1 stem region modulates O-mannosylation sites of α-dystroglycan. Proc Natl Acad Sci U S A. 2016 Aug 16;113(33):9280-5. [Content Brief]

[5]. Nana Hsiang-Hua Wang, et al. Homozygosity Mapping and Whole-Genome Sequencing Links a Missense Mutation in POMGNT1 to Autosomal Recessive Retinitis Pigmentosa. Invest Ophthalmol Vis Sci. 2016 Jul 1;57(8):3601-9. [Content Brief]

[6]. Wenli Zhang, et al. Cloning and expression of a novel UDP-GlcNAc:alpha-D-mannoside beta1,2-N-acetylglucosaminyltransferase homologous to UDP-GlcNAc:alpha-3-D-mannoside beta1,2-N-acetylglucosaminyltransferase I. Biochem J. 2002 Jan 1;361(Pt 1):153-62. [Content Brief]

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