Glycogen synthase 1 est un gène codé par le symbole GYS1. Communément appelé aussi: Glycogen [starch] synthase, muscle; GYS1; GYS. Glycogen synthase 1 a une masse de 83.79kDa, une longueur d'acide aminé de 737, et est impliqué dans Muscle glycogen storage disease 0.
Nous proposons 9 des anticorps contre Glycogen synthase 1, élevé dans Lapin, qui sont appropriés pour le WB, IHC, ELISA et ICC/IF avec des échantillons dérivés de Humain, Souris et Rat.
Informations sur les Gènes et les Protéines
Résumé UniProt
Transfers the glycosyl residue from UDP-Glc to the non-reducing end of alpha-1,4-glucan.
Résumé Entrez
The protein encoded by this gene catalyzes the addition of glucose monomers to the growing glycogen molecule through the formation of alpha-1,4-glycoside linkages. Mutations in this gene are associated with muscle glycogen storage disease. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.
Implication dans la maladie
Muscle glycogen storage disease 0: Metabolic disorder characterized by fasting hypoglycemia presenting in infancy or early childhood. The role of muscle glycogen is to provide critical energy during bursts of activity and sustained muscle work.
Similitudes de séquence
Belongs to the glycosyltransferase 3 family.
Modification post-traductionnelle
Phosphorylation at Ser-8 by AMPK inactivates the enzyme activity. Primed phosphorylation at Ser-657 (site 5) by CSNK2A1 and CSNK2A2 is required for inhibitory phosphorylation at Ser-641 (site 3a), Ser-645 (site 3b), Ser-649 (site 3c) and Ser-653 (site 4) by GSK3A an GSK3B (By similarity). Phosphorylated at Ser-641 by DYRK2, leading to inactivation (By similarity). Phosphorylated at Ser-641 by PASK, leading to inactivation; phosphorylation by PASK is inhibited by glycogen. Dephosphorylation at Ser-641 and Ser-645 by PP1 activates the enzyme.
