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Literature summary extracted from

  • Nilsson, J.; Halim, A.; Moslemi, A.R.; Pedersen, A.; Nilsson, J.; Larson, G.; Oldfors, A.
    Molecular pathogenesis of a new glycogenosis caused by a glycogenin-1 mutation (2012), Biochim. Biophys. Acta, 1822, 493-499.
    View publication on PubMed

Cloned(Commentary)

EC Number Cloned (Comment) Organism
2.4.1.186 cell-free expression of His-tagged wild-type and mutant enzymes Homo sapiens

Protein Variants

EC Number Protein Variants Comment Organism
2.4.1.186 additional information non-glucosylated glycogenin-1 constructs, with various amino acid substitutions in position 83 and 195, are expressed in a cell-free expression system and autoglucosylated in vitro Homo sapiens
2.4.1.186 T83A site-directed mutagenesis, the mutant shows no incorporation of glucose, no autoglycosylation Homo sapiens
2.4.1.186 T83C site-directed mutagenesis, the mutant shows no incorporation of glucose, no autoglycosylation Homo sapiens
2.4.1.186 T83F site-directed mutagenesis, the mutant shows no incorporation of glucose, no autoglycosylation Homo sapiens
2.4.1.186 T83M naturally occuring mutation, glycogenin-1 with the Thr83Met substitution is unable to form the glucose-O-tyrosine linkage at tyrosine 195 unless co-expressed with the catalytically active Tyr195Phe glycogenin-1. The mutant shows no incorporation of glucose, no autoglycosylation Homo sapiens
2.4.1.186 T83S site-directed mutagenesis, the mutant is catalytically active Homo sapiens
2.4.1.186 T83V site-directed mutagenesis, the mutant shows no incorporation of glucose, no autoglycosylation Homo sapiens
2.4.1.186 T83Y site-directed mutagenesis, the mutant shows no incorporation of glucose, no autoglycosylation Homo sapiens
2.4.1.186 Y195F site-directed mutagenesis, glycogenin-1 with the Thr83Met substitution is unable to form the glucose-O-tyrosine linkage at tyrosine 195 unless co-expressed with the catalytically active Tyr195Phe glycogenin-1 Homo sapiens

Metals/Ions

EC Number Metals/Ions Comment Organism Structure
2.4.1.186 Mn2+ required Homo sapiens

Molecular Weight [Da]

EC Number Molecular Weight [Da] Molecular Weight Maximum [Da] Comment Organism
2.4.1.186 40000
-
 recombinant His-tagged unglucosylated glycogenin-1, gel filtration Homo sapiens
2.4.1.186 41000
-
 recombinant His-tagged autoglucosylated glycogenin-1, gel filtration Homo sapiens

Natural Substrates/ Products (Substrates)

EC Number Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
2.4.1.186 UDP-alpha-D-glucose + glycogenin Homo sapiens autoglucosylation by glycogenin-1 UDP + alpha-D-glucosylglycogenin
-
 ?

Organism

EC Number Organism UniProt Comment Textmining
2.4.1.186 Homo sapiens
-
-
-

Posttranslational Modification

EC Number Posttranslational Modification Comment Organism
2.4.1.186 glycoprotein in vitro autoglucosylation of wild-type and mutant enzymes Homo sapiens

Purification (Commentary)

EC Number Purification (Comment) Organism
2.4.1.186 recombinant His-tagged wild-type and mutant enzymes from cell-free expression by nickel affinity chromatography Homo sapiens

Source Tissue

EC Number Source Tissue Comment Organism Textmining
2.4.1.186 skeletal muscle
-
 Homo sapiens
-

Substrates and Products (Substrate)

EC Number Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
2.4.1.186 additional information glycogenin-1 catalyzes both the glucose-O-tyrosine linkage and the alpha1,4 glucosidic bonds linking the glucose molecules in the oligosaccharide Homo sapiens ?
-
 ?
2.4.1.186 UDP-alpha-D-glucose + glycogenin autoglucosylation by glycogenin-1 Homo sapiens UDP + alpha-D-glucosylglycogenin
-
 ?

Synonyms

EC Number Synonyms Comment Organism
2.4.1.186 glycogenin-1
-
 Homo sapiens

Temperature Optimum [°C]

EC Number Temperature Optimum [°C] Temperature Optimum Maximum [°C] Comment Organism
2.4.1.186 30
-
 assay at Homo sapiens

pH Optimum

EC Number pH Optimum Minimum pH Optimum Maximum Comment Organism
2.4.1.186 7.5
-
 assay at Homo sapiens

General Information

EC Number General Information Comment Organism
2.4.1.186 malfunction glycogen depletion in skeletal muscle is a result of a non-functional glycogenin-1 due to a Thr83Met substitution in glycogenin-1 Homo sapiens
2.4.1.186 additional information aggregation might be an explanation for the incomplete autoglucosylation of wild-type glycogenin-1 Homo sapiens
2.4.1.186 physiological function glycogenin-1 initiates the glycogen synthesis in skeletal muscle by the autocatalytic formation of a short oligosaccharide at tyrosine 195 Homo sapiens