Human Gene GYS1 (ENST00000323798.8) from GENCODE V44
Description: Homo sapiens glycogen synthase 1 (GYS1), transcript variant 3, non-coding RNA. (from RefSeq NR_027763) RefSeq Summary (NM_002103): 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.[provided by RefSeq, Sep 2009]. Gencode Transcript: ENST00000323798.8 Gencode Gene: ENSG00000104812.15 Transcript (Including UTRs) Position: hg38 chr19:48,968,130-48,993,309 Size: 25,180 Total Exon Count: 16 Strand: - Coding Region Position: hg38 chr19:48,969,288-48,993,112 Size: 23,825 Coding Exon Count: 16
ID:GYS1_HUMAN DESCRIPTION: RecName: Full=Glycogen [starch] synthase, muscle; EC=2.4.1.11; FUNCTION: Transfers the glycosyl residue from UDP-Glc to the non- reducing end of alpha-1,4-glucan. CATALYTIC ACTIVITY: UDP-glucose ((1->4)-alpha-D-glucosyl)(n) = UDP + ((1->4)-alpha-D-glucosyl)(n+1). ENZYME REGULATION: Allosteric activation by glucose-6-phosphate. Phosphorylation reduces the activity towards UDP-glucose. When in the non-phosphorylated state, glycogen synthase does not require glucose-6-phosphate as an allosteric activator; when phosphorylated it does (By similarity). PATHWAY: Glycan biosynthesis; glycogen biosynthesis. SUBUNIT: Interacts with GYG1. INTERACTION: P46976:GYG1; NbExp=4; IntAct=EBI-740553, EBI-740533; PTM: 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 PASK, leading to inactivation; phosphorylation by PASK is inhibited by glycogen. Dephosphorylation at Ser-641 and Ser-645 by PP1 activates the enzyme. DISEASE: Defects in GYS1 are the cause of muscle glycogen storage disease type 0 (GSD0b) [MIM:611556]; 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. SIMILARITY: Belongs to the glycosyltransferase 3 family.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P13807
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
US Server
