Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
2997
Gene name Gene Name - the full gene name approved by the HGNC.
Glycogen synthase 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
GYS1
Synonyms (NCBI Gene) Gene synonyms aliases
GSY, GYS
Chromosome Chromosome number
19
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
19q13.33
Summary Summary of gene provided in NCBI Entrez Gene.
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 s
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs121434584 G>A Pathogenic Coding sequence variant, non coding transcript variant, stop gained
rs561646250 C>A,G,T Uncertain-significance, benign, likely-benign, pathogenic Stop gained, non coding transcript variant, missense variant, coding sequence variant
rs587777375 CT>- Likely-pathogenic Frameshift variant, coding sequence variant, intron variant
rs775324036 ->T Likely-pathogenic Frameshift variant, intron variant, coding sequence variant
rs1568619900 T>- Pathogenic Non coding transcript variant, coding sequence variant, frameshift variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT003080 hsa-miR-122-5p qRT-PCR, Western blot, Northern blot 18073344
MIRT001626 hsa-let-7b-5p pSILAC 18668040
MIRT003080 hsa-miR-122-5p Microarray 17612493
MIRT028992 hsa-miR-26b-5p Microarray 19088304
MIRT001626 hsa-let-7b-5p Proteomics;Other 18668040
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0004373 Function Glycogen (starch) synthase activity EXP 19699667
GO:0004373 Function Glycogen (starch) synthase activity IBA 21873635
GO:0004373 Function Glycogen (starch) synthase activity IDA 16275910
GO:0005515 Function Protein binding IPI 10481074, 16189514, 16282323, 17055998, 24165324, 25416956, 28330616, 28514442, 32296183
GO:0005536 Function Glucose binding IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
138570 4706 ENSG00000104812
Protein
UniProt ID P13807
Protein name Glycogen [starch] synthase, muscle (EC 2.4.1.11) (Glycogen synthase 1)
Protein function Glycogen synthase participates in the glycogen biosynthetic process along with glycogenin and glycogen branching enzyme. Extends the primer composed of a few glucose units formed by glycogenin by adding new glucose units to it. In this context,
PDB 7Q0B , 7Q0S , 7Q12 , 7Q13 , 7ZBN , 8CVX , 8CVY , 8CVZ
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF05693 Glycogen_syn 31 663 Glycogen synthase Family
Tissue specificity TISSUE SPECIFICITY: Expressed in skeletal muscle and most other cell types where glycogen is present. {ECO:0000305|PubMed:2493642}.
Sequence
Sequence length 737
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Starch and sucrose metabolism
Metabolic pathways
PI3K-Akt signaling pathway
AMPK signaling pathway
Insulin signaling pathway
Glucagon signaling pathway
Insulin resistance
Diabetic cardiomyopathy
  Glycogen synthesis
Myoclonic epilepsy of Lafora
Glycogen storage disease type XV (GYG1)
Glycogen storage disease type 0 (muscle GYS1)
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Cardiomyopathy Cardiomyopathies rs267607003, rs267607002, rs267607004, rs63750743, rs121908333, rs121908334, rs104894655, rs121434420, rs121434421, rs193922674, rs111517471, rs121908987, rs193922384, rs121909374, rs121909377
View all (900 more)
Glycogen storage disease Glycogen Storage Disease, Glycogen Storage Disease 0, Muscle, Glycogen storage disease due to muscle and heart glycogen synthase deficiency rs10250779, rs387906244, rs113994126, rs113994129, rs113994134, rs369973784, rs199922945, rs118203964, rs113994132, rs387906246, rs113994128, rs267606639, rs267606640, rs755419857, rs895690691
View all (721 more)
17928598, 21958591, 24579562
Left ventricular hypertrophy Left Ventricular Hypertrophy rs397516037
Seizure Tonic - clonic seizures rs587784365, rs28939683, rs74315390, rs28939684, rs74315391, rs267607198, rs74315392, rs118192244, rs118192250, rs121917749, rs121917750, rs121917751, rs121917752, rs267606670, rs267607061
View all (179 more)
Associations from Text Mining
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 39948531
Aortic Aneurysm Abdominal Associate 39321955
Arthritis Associate 30100905
Arthritis Rheumatoid Stimulate 30100905
Cardiovascular Diseases Associate 17356695
Colorectal Neoplasms Associate 37816729
Death Associate 17356695
Diabetes Gestational Associate 35926094
Diabetes Mellitus Type 2 Associate 17356695
Hypoxia Stimulate 30100905