GYS1 (glycogen synthase 1)

2009-08-01  

Identity

HGNC
LOCATION
19q13.33
LOCUSID
ALIAS
GSY,GYS
FUSION GENES

Other Information

Locus ID:

NCBI: 2997
MIM: 138570
HGNC: 4706
Ensembl: ENSG00000104812

Variants:

dbSNP: 2997
ClinVar: 2997
TCGA: ENSG00000104812
COSMIC: GYS1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000104812ENST00000263276P13807
ENSG00000104812ENST00000323798P13807
ENSG00000104812ENST00000594220M0QYU1

Expression (GTEx)

0
50
100
150
200

Pathways

PathwaySourceExternal ID
Starch and sucrose metabolismKEGGko00500
Insulin signaling pathwayKEGGko04910
Starch and sucrose metabolismKEGGhsa00500
Insulin signaling pathwayKEGGhsa04910
Metabolic pathwaysKEGGhsa01100
PI3K-Akt signaling pathwayKEGGhsa04151
PI3K-Akt signaling pathwayKEGGko04151
AMPK signaling pathwayKEGGhsa04152
AMPK signaling pathwayKEGGko04152
Glucagon signaling pathwayKEGGhsa04922
Glucagon signaling pathwayKEGGko04922
DiseaseREACTOMER-HSA-1643685
Diseases of metabolismREACTOMER-HSA-5668914
Diseases of carbohydrate metabolismREACTOMER-HSA-5663084
Glycogen storage diseasesREACTOMER-HSA-3229121
Myoclonic epilepsy of LaforaREACTOMER-HSA-3785653
MetabolismREACTOMER-HSA-1430728
Metabolism of carbohydratesREACTOMER-HSA-71387
Glucose metabolismREACTOMER-HSA-70326
Glycogen synthesisREACTOMER-HSA-3322077
Insulin resistanceKEGGhsa04931
Glycogen storage disease type 0 (muscle GYS1)REACTOMER-HSA-3828062
Glycogen storage disease type IV (GBE1)REACTOMER-HSA-3878781
Glycogen storage disease type XV (GYG1)REACTOMER-HSA-3814836

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
203001972010Hypoxia promotes glycogen accumulation through hypoxia inducible factor (HIF)-mediated induction of glycogen synthase 1.67
179285982007Cardiomyopathy and exercise intolerance in muscle glycogen storage disease 0.28
224032972012GLUT4 and glycogen synthase are key players in bed rest-induced insulin resistance.26
193392422009Dual regulation of muscle glycogen synthase during exercise by activation and compartmentalization.22
127328442003A study to survey susceptible genetic factors responsible for troglitazone-associated hepatotoxicity in Japanese patients with type 2 diabetes mellitus.20
198379312009Dysregulation of glycogen synthase COOH- and NH2-terminal phosphorylation by insulin in obesity and type 2 diabetes mellitus.14
257035872015Pathological glycogenesis through glycogen synthase 1 and suppression of excessive AMP kinase activity in myeloid leukemia cells.14
159550762005Determinants of the nucleocytoplasmic shuttling of muscle glycogen synthase.13
171372172006Association of sixty-one non-synonymous polymorphisms in forty-one hypertension candidate genes with blood pressure variation and hypertension.13

Citation

Dessen P

GYS1 (glycogen synthase 1)

Atlas Genet Cytogenet Oncol Haematol. 2009-08-01

Online version: http://atlasgeneticsoncology.org/gene/51017/gys1