GYS1 (glycogen synthase 1)

2009-08-01 Affiliation

Identity

HGNC

GYS1

LOCATION

19q13.33

LOCUSID

2997

ALIAS

GSY,GYS

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000104812	ENST00000263276	P13807
ENSG00000104812	ENST00000323798	P13807
ENSG00000104812	ENST00000594220	M0QYU1

Expression (GTEx)

100

150

200

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Starch and sucrose metabolism	KEGG	ko00500
Insulin signaling pathway	KEGG	ko04910
Starch and sucrose metabolism	KEGG	hsa00500
Insulin signaling pathway	KEGG	hsa04910
Metabolic pathways	KEGG	hsa01100
PI3K-Akt signaling pathway	KEGG	hsa04151
PI3K-Akt signaling pathway	KEGG	ko04151
AMPK signaling pathway	KEGG	hsa04152
AMPK signaling pathway	KEGG	ko04152
Glucagon signaling pathway	KEGG	hsa04922
Glucagon signaling pathway	KEGG	ko04922
Disease	REACTOME	R-HSA-1643685
Diseases of metabolism	REACTOME	R-HSA-5668914
Diseases of carbohydrate metabolism	REACTOME	R-HSA-5663084
Glycogen storage diseases	REACTOME	R-HSA-3229121
Myoclonic epilepsy of Lafora	REACTOME	R-HSA-3785653
Metabolism	REACTOME	R-HSA-1430728
Metabolism of carbohydrates	REACTOME	R-HSA-71387
Glucose metabolism	REACTOME	R-HSA-70326
Glycogen synthesis	REACTOME	R-HSA-3322077
Insulin resistance	KEGG	hsa04931
Glycogen storage disease type 0 (muscle GYS1)	REACTOME	R-HSA-3828062
Glycogen storage disease type IV (GBE1)	REACTOME	R-HSA-3878781
Glycogen storage disease type XV (GYG1)	REACTOME	R-HSA-3814836

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
35793618	2022	The structural mechanism of human glycogen synthesis by the GYS1-GYG1 complex.	7
35793618	2022	The structural mechanism of human glycogen synthesis by the GYS1-GYG1 complex.	7
33219378	2021	Pulmonary glycogen deficiency as a new potential cause of respiratory distress syndrome.	2
33219378	2021	Pulmonary glycogen deficiency as a new potential cause of respiratory distress syndrome.	2
28596236	2017	Acute Hypoglycemia in Healthy Humans Impairs Insulin-Stimulated Glucose Uptake and Glycogen Synthase in Skeletal Muscle: A Randomized Clinical Study.	3
28596236	2017	Acute Hypoglycemia in Healthy Humans Impairs Insulin-Stimulated Glucose Uptake and Glycogen Synthase in Skeletal Muscle: A Randomized Clinical Study.	3
25371328	2015	Over-expression of muscle glycogen synthase in human diabetic nephropathy.	7
25487600	2015	Overexpression of GYS1, MIF, and MYC is associated with adverse outcome and poor response to azacitidine in myelodysplastic syndromes and acute myeloid leukemia.	15
25703587	2015	Pathological glycogenesis through glycogen synthase 1 and suppression of excessive AMP kinase activity in myeloid leukemia cells.	29
25371328	2015	Over-expression of muscle glycogen synthase in human diabetic nephropathy.	7
25487600	2015	Overexpression of GYS1, MIF, and MYC is associated with adverse outcome and poor response to azacitidine in myelodysplastic syndromes and acute myeloid leukemia.	15
25703587	2015	Pathological glycogenesis through glycogen synthase 1 and suppression of excessive AMP kinase activity in myeloid leukemia cells.	29
23134486	2013	Regulation of glycogen synthase from mammalian skeletal muscle--a unifying view of allosteric and covalent regulation.	17
23321478	2013	Akt2 influences glycogen synthase activity in human skeletal muscle through regulation of NH₂-terminal (sites 2 + 2a) phosphorylation.	7
23134486	2013	Regulation of glycogen synthase from mammalian skeletal muscle--a unifying view of allosteric and covalent regulation.	17

Citation

Dessen P

GYS1 (glycogen synthase 1)

Atlas Genet Cytogenet Oncol Haematol. 2009-08-01

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