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MGP001384

UniProt Annotations

Entry Information
Gene Nameglycogenin 1
Protein EntryGLYG_HUMAN
UniProt IDP46976
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=3; Name=GN-1L; IsoId=P46976-1; Sequence=Displayed; Name=GN-1; IsoId=P46976-2; Sequence=VSP_001769; Name=GN-1S; IsoId=P46976-3; Sequence=VSP_001768;
Catalytic ActivityUDP-alpha-D-glucose + glycogenin = UDP + alpha-D-glucosylglycogenin.
CofactorName=Mn(2+); Xref=ChEBI:CHEBI:29035; Note=Divalent metal ions. Required for self-glucosylation. Manganese is the most effective.;
DiseaseGlycogen storage disease 15 (GSD15) [MIM:613507]: A metabolic disorder resulting in muscle weakness, associated with the glycogen depletion in skeletal muscle, and cardiac arrhythmia, associated with the accumulation of abnormal storage material in the heart. The skeletal muscle shows a marked predominance of slow-twitch, oxidative muscle fibers and mitochondrial proliferation. {ECO:0000269|PubMed:20357282}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionSelf-glucosylates, via an inter-subunit mechanism, to form an oligosaccharide primer that serves as substrate for glycogen synthase.
InteractionP13807:GYS1; NbExp=4; IntAct=EBI-740533, EBI-740553;
PathwayGlycan biosynthesis; glycogen biosynthesis.
PtmPhosphorylated. {ECO:0000250}.
PtmSelf-glycosylated by the transfer of glucose residues from UDP-glucose to itself, forming an alpha-1,4-glycan of around 10 residues attached to Tyr-195.
SimilarityBelongs to the glycosyltransferase 8 family. Glycogenin subfamily. {ECO:0000305}.
SubunitHomodimer tightly complexed to the 86 kDa catalytic subunit of glycogen synthase GYS1 (By similarity). Interacts (via C-terminus) with GYS2 (PubMed:17055998). This interaction is required for GYS2-mediated glycogen synthesis (By similarity). {ECO:0000250|UniProtKB:P13280, ECO:0000250|UniProtKB:Q9R062, ECO:0000269|PubMed:17055998}.
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