glycogen synthase 1

Summary
Gene Symbol
  • GYS1
Aliases
  • GSY
Organism
Homo sapiens (human)
External Links
NCBI Gene
2997
HGNC
4706
KEGG Gene ID
hsa:2997
PubChem
2997
Alliance of Genome Resources
Annotation
Keyword
  • 3D-structure
  • Allosteric enzyme
  • Alternative splicing
  • Diabetes mellitus
  • Disease variant
  • Glycogen biosynthesis
  • Glycosyltransferase
  • Phosphoprotein
  • Reference proteome
Proteins
Displaying 1 entry
UniProt Protein Name
P13807
  • Glycogen synthase 1
Gene Ontology (GO)
Displaying all 2 entries
GO Term Evidence Code PMID
glycogen biosynthetic process
heart development
GO Hierarchy
Human Protein Atlas
ENSG00000104812

soft tissue soft tissue blood blood blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node kidney kidney adrenal gland adrenal gland breast breast duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland nasopharynx nasopharynx tongue tonsil tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder ductus deferens ductus deferens seminal vesicle seminal vesicle seminal vesicle seminal vesicle testis testis epididymis epididymis brain smooth muscle urinary bladder prostate bone marrow skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus cartilage sole of foot sole of foot soft tissue blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lactating breast lactating breast kidney kidney adrenal gland adrenal gland duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland salivary gland salivary gland salivary gland salivary gland salivary gland nasopharynx tongue tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder brain skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus smooth muscle urinary bladder vagina ovary ovary fallopian tube fallopian tube endometrium placenta cervix cervix bone marrow cartilage sole of foot sole of foot olfactory region cerebral cortex cerebellum medulla pons midbrain pituitary gland hypothalamus amygdala thalamus choroid plexus choroid plexus corpus callosum basal ganglia substantia nigra dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe caudate hippocampus retina retina

Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.

KEGG BRITE Database
Orthology
K00693
Name
glycogen synthase [EC:2.4.1.11]
References
Disease
Disease Ontology
Displaying entries 1 - 10 of 45 in total
DO ID Disease Name Source
DOID:0050700 cardiomyopathy
DOID:0050908 myelodysplastic syndrome
DOID:0090103 Huntington's disease-like 1
DOID:0090104 Huntington's disease-like 2
DOID:0110741 type 1 diabetes mellitus 2
DOID:0110742 type 1 diabetes mellitus 3
DOID:0110743 type 1 diabetes mellitus 4
DOID:0110744 type 1 diabetes mellitus 5
DOID:0110745 type 1 diabetes mellitus 6
DOID:0110746 type 1 diabetes mellitus 7
The Human Phenotype Ontology
Displaying all 7 entries
HPO ID HPO Term
HP:0000007 Autosomal recessive inheritance
HP:0001297 Stroke
HP:0001638 Cardiomyopathy
HP:0001712 Left ventricular hypertrophy
HP:0002069 Bilateral tonic-clonic seizure
HP:0003546 Exercise intolerance
HP:0012270 Decreased muscle glycogen content
Displaying 1 entry
Disease ID Disease Name
OMIM:611556
  • glycogen storage disease due to muscle and heart glycogen synthase deficiency

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

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Last updated: August 19, 2024