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Aliases for GYS1 Gene

Aliases for GYS1 Gene

  • Glycogen Synthase 1 2 3 5
  • Glycogen Synthase 1 (Muscle) 2 3
  • EC 4 61
  • GYS 3 4
  • Glycogen [Starch] Synthase, Muscle 3
  • GSY 3

External Ids for GYS1 Gene

Previous HGNC Symbols for GYS1 Gene

  • GYS

Previous GeneCards Identifiers for GYS1 Gene

  • GC19M050129
  • GC19M049839
  • GC19M054147
  • GC19M054164
  • GC19M054165
  • GC19M054166
  • GC19M049471
  • GC19M045849

Summaries for GYS1 Gene

Entrez Gene Summary for GYS1 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 spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]

GeneCards Summary for GYS1 Gene

GYS1 (Glycogen Synthase 1) is a Protein Coding gene. Diseases associated with GYS1 include Glycogen Storage Disease 0, Muscle and Glycogen Storage Disease. Among its related pathways are Activation of cAMP-Dependent PKA and Metabolism. GO annotations related to this gene include protein kinase binding and glycogen (starch) synthase activity. An important paralog of this gene is GYS2.

UniProtKB/Swiss-Prot for GYS1 Gene

  • Transfers the glycosyl residue from UDP-Glc to the non-reducing end of alpha-1,4-glucan.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GYS1 Gene

Genomics for GYS1 Gene

Regulatory Elements for GYS1 Gene

Enhancers for GYS1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH19F048958 1.7 FANTOM5 ENCODE 11.1 +29.3 29324 10.2 CREB3L1 MLX ZFP64 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 NFYC ENSG00000269321 NUP62 PRR12 TEAD2 PPP1R15A RUVBL2 KDELR1 PIH1D1 GRWD1 ENSG00000268157
GH19F049017 1.2 FANTOM5 ENCODE 12.8 -25.2 -25197 2.6 ATF1 CBX3 SIN3A GLIS2 EGR1 KLF7 CREM EGR2 SP3 CEBPB RUVBL2 LOC101059948 CGB3 GYS1 CGB7 NTF4 LHB
GH19F049020 0.7 FANTOM5 12.8 -27.7 -27716 0.3 KLF1 MAZ SP3 BHLHE40 SP2 ZNF2 ZNF692 ZNF169 KLF9 PRDM10 CGB3 RUVBL2 GYS1 CGB7 NTF4 CGB5 LOC101059948
GH19F049021 0.5 ENCODE 12.8 -27.2 -27206 0.1 PKNOX1 RFX1 PRDM10 ZBTB33 RUVBL2 GYS1 CGB7 NTF4 CGB3 LOC101059948
GH19F048988 1.8 FANTOM5 Ensembl ENCODE 0.8 +1.3 1300 7.2 MLX CREB3L1 ZFP64 DMAP1 FEZF1 YY1 SLC30A9 ZNF143 ZNF263 SP3 GRWD1 TEAD2 NUP62 AKT1S1 KDELR1 ENSG00000268157 SNORD35A LOC101059948 PLEKHA4 PRR12
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around GYS1 on UCSC Golden Path with GeneCards custom track

Promoters for GYS1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000348114 -47 2801 MLX CREB3L1 ZFP64 DMAP1 FEZF1 YY1 SLC30A9 ZNF143 ZNF263 SP3

Genomic Location for GYS1 Gene

48,968,125 bp from pter
48,993,353 bp from pter
25,229 bases
Minus strand

Genomic View for GYS1 Gene

Genes around GYS1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GYS1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GYS1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GYS1 Gene

Proteins for GYS1 Gene

  • Protein details for GYS1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Glycogen [starch] synthase, muscle
    Protein Accession:
    Secondary Accessions:
    • Q9BTT9

    Protein attributes for GYS1 Gene

    737 amino acids
    Molecular mass:
    83786 Da
    Quaternary structure:
    • Interacts with GYG1.

    Alternative splice isoforms for GYS1 Gene


neXtProt entry for GYS1 Gene

Selected DME Specific Peptides for GYS1 Gene


Post-translational modifications for GYS1 Gene

  • Phosphorylation at Ser-8 by AMPK inactivates the enzyme activity. Primed phosphorylation at Ser-657 (site 5) by CSNK2A1 and CSNK2A2 is required for inhibitory phosphorylation at Ser-641 (site 3a), Ser-645 (site 3b), Ser-649 (site 3c) and Ser-653 (site 4) by GSK3A an GSK3B (By similarity). Phosphorylated at Ser-641 by DYRK2, leading to inactivation (By similarity). Phosphorylated at Ser-641 by PASK, leading to inactivation; phosphorylation by PASK is inhibited by glycogen. Dephosphorylation at Ser-641 and Ser-645 by PP1 activates the enzyme.
  • Ubiquitination at Lys 88, Lys 474, and Lys 599
  • Modification sites at PhosphoSitePlus

Other Protein References for GYS1 Gene

Domains & Families for GYS1 Gene

Gene Families for GYS1 Gene

Protein Domains for GYS1 Gene


Suggested Antigen Peptide Sequences for GYS1 Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the glycosyltransferase 3 family.
  • Belongs to the glycosyltransferase 3 family.
genes like me logo Genes that share domains with GYS1: view

Function for GYS1 Gene

Molecular function for GYS1 Gene

GENATLAS Biochemistry:
glycogen synthase,skeletal muscle,the rate limiting enzyme of the insulin-induced glycogenesis
UniProtKB/Swiss-Prot CatalyticActivity:
UDP-alpha-D-glucose + ((1->4)-alpha-D-glucosyl)(n) = UDP + ((1->4)-alpha-D-glucosyl)(n+1).
UniProtKB/Swiss-Prot EnzymeRegulation:
Allosteric activation by glucose-6-phosphate. Phosphorylation reduces the activity towards UDP-glucose. When in the non-phosphorylated state, glycogen synthase does not require glucose-6-phosphate as an allosteric activator; when phosphorylated it does (By similarity).
UniProtKB/Swiss-Prot Function:
Transfers the glycosyl residue from UDP-Glc to the non-reducing end of alpha-1,4-glucan.

Enzyme Numbers (IUBMB) for GYS1 Gene

Gene Ontology (GO) - Molecular Function for GYS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004373 glycogen (starch) synthase activity IEA,IDA 16275910
GO:0005515 protein binding IPI 16189514
GO:0005536 glucose binding IEA --
GO:0016740 transferase activity IEA --
GO:0016757 transferase activity, transferring glycosyl groups IEA --
genes like me logo Genes that share ontologies with GYS1: view
genes like me logo Genes that share phenotypes with GYS1: view

Human Phenotype Ontology for GYS1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for GYS1 Gene

MGI Knock Outs for GYS1:
  • Gys1 tm1a(EUCOMM)Wtsi

Animal Model Products

  • Taconic Biosciences Mouse Models for GYS1

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for GYS1

Flow Cytometry Products

No data available for Transcription Factor Targets and HOMER Transcription for GYS1 Gene

Localization for GYS1 Gene

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GYS1 gene
Compartment Confidence
cytosol 5
nucleus 3
cytoskeleton 2
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for GYS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0016020 membrane IDA 19946888
GO:0016234 inclusion body IEA --
genes like me logo Genes that share ontologies with GYS1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for GYS1 Gene

Pathways & Interactions for GYS1 Gene

genes like me logo Genes that share pathways with GYS1: view

UniProtKB/Swiss-Prot P13807-GYS1_HUMAN

  • Pathway: Glycan biosynthesis; glycogen biosynthesis.

SIGNOR curated interactions for GYS1 Gene

Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for GYS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005977 glycogen metabolic process IEA --
GO:0005978 glycogen biosynthetic process IEA,TAS --
GO:0007507 heart development IEA --
GO:0008152 metabolic process IEA --
genes like me logo Genes that share ontologies with GYS1: view

Drugs & Compounds for GYS1 Gene

(7) Drugs for GYS1 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Uridine diphosphate glucose Experimental Pharma 0
Uridine-5'-Diphosphate Experimental Pharma 0

(5) Additional Compounds for GYS1 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • (1,4-alpha-D-Glucosyl)N
  • (1,4-alpha-D-Glucosyl)N+1
  • (1,4-alpha-D-Glucosyl)N-1
  • (1,4-alpha-delta-Glucosyl)N
  • (1,4-alpha-delta-Glucosyl)N+1
genes like me logo Genes that share compounds with GYS1: view

Transcripts for GYS1 Gene

Unigene Clusters for GYS1 Gene

Glycogen synthase 1 (muscle):
Representative Sequences:

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for GYS1

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for GYS1 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17
SP1: - -
SP2: - - -

Relevant External Links for GYS1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for GYS1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for GYS1 Gene

mRNA differential expression in normal tissues according to GTEx for GYS1 Gene

This gene is overexpressed in Muscle - Skeletal (x8.2) and Heart - Left Ventricle (x5.2).

Protein differential expression in normal tissues from HIPED for GYS1 Gene

This gene is overexpressed in Heart (22.2) and Fetal heart (8.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for GYS1 Gene

Protein tissue co-expression partners for GYS1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of GYS1 Gene:


SOURCE GeneReport for Unigene cluster for GYS1 Gene:

genes like me logo Genes that share expression patterns with GYS1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for GYS1 Gene

Orthologs for GYS1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for GYS1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia GYS1 34 35
  • 99.29 (n)
(Bos Taurus)
Mammalia GYS1 34 35
  • 91.12 (n)
(Canis familiaris)
Mammalia GYS1 34 35
  • 90.73 (n)
(Ornithorhynchus anatinus)
Mammalia GYS1 35
  • 90 (a)
(Mus musculus)
Mammalia Gys1 34 16 35
  • 87.38 (n)
(Rattus norvegicus)
Mammalia Gys1 34
  • 87.34 (n)
(Monodelphis domestica)
Mammalia GYS1 35
  • 85 (a)
(Anolis carolinensis)
Reptilia GYS1 35
  • 83 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100490155 34
  • 73.96 (n)
(Danio rerio)
Actinopterygii gys1 34 35
  • 73.28 (n)
-- 34
fruit fly
(Drosophila melanogaster)
Insecta CG6904 36 34 35
  • 62.52 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002586 34
  • 61.56 (n)
(Caenorhabditis elegans)
Secernentea gsy-1 34 35
  • 58.07 (n)
Y46G5A.31 36
  • 54 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AAR008W 34
  • 58.8 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GSY1 34 35 37
  • 56.2 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F23133g 34
  • 56.03 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU06687 34
  • 60.08 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 58 (a)
Species where no ortholog for GYS1 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for GYS1 Gene

Gene Tree for GYS1 (if available)
Gene Tree for GYS1 (if available)

Paralogs for GYS1 Gene

Paralogs for GYS1 Gene

(1) SIMAP similar genes for GYS1 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with GYS1: view

Variants for GYS1 Gene

Sequence variations from dbSNP and Humsavar for GYS1 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs121434584 Pathogenic 48,974,658(-) TCCGC(C/T)GAATC nc-transcript-variant, reference, stop-gained
rs587777375 Pathogenic 48,991,439(+) GTCCC(-/CT)GTCAC intron-variant, reference, frameshift-variant
rs140201404 Uncertain significance 48,991,401(+) GTGTA(C/T)GGCCC intron-variant, reference, synonymous-codon
rs191213443 Benign 48,987,185(+) CAGAC(A/G)GGGCC intron-variant
rs1039442 -- 48,968,073(-) CCAGT(A/G)CCACC downstream-variant-500B

Structural Variations from Database of Genomic Variants (DGV) for GYS1 Gene

Variant ID Type Subtype PubMed ID
nsv9739 CNV gain+loss 18304495
nsv953598 CNV deletion 24416366
nsv833857 CNV loss 17160897
nsv833856 CNV loss 17160897
dgv3618n100 CNV gain 25217958

Variation tolerance for GYS1 Gene

Residual Variation Intolerance Score: 9.48% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.46; 54.93% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GYS1 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GYS1 Gene

Disorders for GYS1 Gene

MalaCards: The human disease database

(7) MalaCards diseases for GYS1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
glycogen storage disease 0, muscle
  • glycogen storage disease type 0, muscle
glycogen storage disease
  • glycogenoses
fasting hypoglycemia
glycogen storage disease type 0
  • glycogen storage disease 0
brain germinoma
  • germinoma of the brain
- elite association - COSMIC cancer census association via MalaCards
Search GYS1 in MalaCards View complete list of genes associated with diseases


  • Muscle glycogen storage disease 0 (GSD0b) [MIM:611556]: Metabolic disorder characterized by fasting hypoglycemia presenting in infancy or early childhood. The role of muscle glycogen is to provide critical energy during bursts of activity and sustained muscle work. {ECO:0000269 PubMed:17928598}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for GYS1

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with GYS1: view

No data available for Genatlas for GYS1 Gene

Publications for GYS1 Gene

  1. Physiogenomic comparison of edema and BMI in patients receiving rosiglitazone or pioglitazone. (PMID: 18996102) RuaA+o G. … Hanks S. (Clin. Chim. Acta 2009) 3 22 46 64
  2. Variation in GYS1 interacts with exercise and gender to predict cardiovascular mortality. (PMID: 17356695) Fredriksson J. … Orho-Melander M. (PLoS ONE 2007) 3 22 46 64
  3. Association of sixty-one non-synonymous polymorphisms in forty-one hypertension candidate genes with blood pressure variation and hypertension. (PMID: 17137217) Kokubo Y. … Miyata T. (Hypertens. Res. 2006) 3 22 46 64
  4. Association of muscle glycogen synthase polymorphism with insulin resistance in type 2 diabetic patients. (PMID: 12870167) Motoyama K. … Nishizawa Y. (Metab. Clin. Exp. 2003) 3 22 46 64
  5. Association of GYS1 and beta(3)-AR gene with postprandial hyperglycemia and serum uric acid in type 2 diabetes mellitus. (PMID: 12411100) Wang G. … Xu X. (Chin. Med. J. 2002) 3 22 46 64

Products for GYS1 Gene

Sources for GYS1 Gene

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