GYS1: Glycogen Synthase 1
Key enzyme in glycogen biosynthesis, associated with glycogen storage diseases and metabolic disorders
Gene Information Card
| Symbol | GYS1 |
|---|---|
| Full Name | Glycogen Synthase 1 (Muscle) |
| Gene Type | Protein coding |
| Chromosomal Location | 19q13.33 |
| NCBI Gene ID | 2997 ncbi.nlm.nih.gov/gene/2997 |
| Ensembl ID | ENSG00000104814 |
| UniProt ID | P13807 |
| OMIM ID | 138570 |
| HGNC ID | 4706 |
| Aliases | GYS, GYS1, glycogen synthase, muscle |
Description
The GYS1 gene encodes glycogen synthase 1, the rate-limiting enzyme in glycogen synthesis in muscle and other tissues. It catalyzes the transfer of glucose from UDP-glucose to the non-reducing end of glycogen. Mutations in GYS1 cause glycogen storage disease type 0 (GSD0), characterized by fasting hypoglycemia and postprandial hyperglycemia. The enzyme is regulated by phosphorylation and allosteric effectors.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Glycogen storage disease type 0 (GSD0) | Loss-of-function mutations in GYS1 impair glycogen synthesis, leading to fasting hypoglycemia and postprandial hyperglycemia. | ClinVar, OMIM |
| Cardiomyopathy, hypertrophic | Reduced glycogen synthase activity in cardiac muscle may contribute to energy deficit and hypertrophy. | OMIM, PubMed |
| Exercise intolerance | Defective muscle glycogen storage due to GYS1 mutations leads to early fatigue and myopathy. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skeletal muscle | 58.2 | High |
| Heart | 22.1 | Medium |
| Liver | 3.4 | Low |
| Brain | 6.8 | Low |
| Adipose tissue | 12.5 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Skeletal muscle myocytes | 45.0 | High expression |
| Cardiomyocytes | 20.3 | Moderate expression |
| HepG2 | 2.1 | Low expression |
| SH-SY5Y | 5.4 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Loss of function; associated with GSD0 |
| c.1138C>T (p.Arg380*) | Nonsense | Rare | Premature stop; loss of function |
| c.1465G>A (p.Gly489Arg) | Missense | Rare | Impaired enzyme activity; GSD0 |
| c.1843C>T (p.Arg615Cys) | Missense | Rare | Reduced glycogen synthesis |
Mutation functional classification
Loss of Function (LOF)
Most GYS1 mutations are loss-of-function, reducing or abolishing glycogen synthase activity, leading to GSD0.
Gain of Function (GOF)
No gain-of-function mutations reported in GYS1.
Dominant Negative (DN)
No dominant-negative mutations reported; GYS1 mutations are typically recessive.
View complete mutation data：
Gene Ontology (GO)
| • glycogen biosynthetic process | • glycogen synthase activity |
| • UDP-glucose metabolic process | • transferase activity |
| • transferring glycosyl groups | • cellular response to insulin stimulus |
| • carbohydrate metabolic process |
Pathways
• Glycogen metabolism
• Insulin signaling pathway
• Starch and sucrose metabolism
• Metabolic pathways
Protein Summary
Glycogen synthase 1 (GYS1) is a 737-amino acid enzyme that catalyzes the rate-limiting step in glycogen synthesis. It is highly expressed in skeletal muscle and heart. The protein is regulated by phosphorylation at multiple serine residues, which inactivates it, and by allosteric activation by glucose-6-phosphate. Defects in GYS1 cause glycogen storage disease type 0, a metabolic disorder with hypoglycemia and hyperglycemia.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GYS1 Knockout HEK293 Cell Line | EDJ-KQ804 | Human | 2997 | Details Get a Quote |
| GYS1 Knockout HeLa Cell Line | EDJ-KQ18285 | Human | 2997 | Details Get a Quote |
| GYS1 Knockout A-549 Cell Line | EDJ-KQ19534 | Human | 2997 | Details Get a Quote |
| GYS1 Knockout HCT 116 Cell Line | EDJ-KQ19535 | Human | 2997 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
