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Aliases for GYS1 Gene

Aliases for GYS1 Gene

  • Glycogen Synthase 1 2 3 5
  • Glycogen Synthase 1 (Muscle) 2 3
  • GYS 3 4
  • Glycogen [Starch] Synthase, Muscle 3
  • EC 4
  • 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 Diseases of carbohydrate metabolism and Akt Signaling. Gene Ontology (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.

Additional gene information for GYS1 Gene

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

Genomics for GYS1 Gene

GeneHancer (GH) Regulatory Elements for GYS1 Gene

Promoters and enhancers for GYS1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH19J048988 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE 650.7 +1.3 1300 7.2 HDGF PKNOX1 MLX ARNT ZFP64 ARID4B NEUROD1 SIN3A FEZF1 ZBTB7B RUVBL2 GYS1 NUP62 GRWD1 PTOV1-AS2 SNORD35A ENSG00000268047 IRF3 SNORD35B SNRNP70
GH19J048958 Promoter/Enhancer 2.9 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 11.1 +29.3 29324 10.2 MLX ZFP64 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 ZNF263 FTL ENSG00000267898 GC19P048966 GC19P048967 NUP62 PTOV1-AS2 IRF3 SNORD35A SNORD35B PRR12
GH19J049018 Promoter/Enhancer 1.6 FANTOM5 Ensembl ENCODE 12.8 -25.2 -25197 2.6 HDAC1 SMAD1 ATF1 ZNF335 POLR2B GLIS2 EGR1 ZNF143 KLF7 ATF7 LOC101059948 LHB RUVBL2 CGB3 GYS1 CGB7 NTF4
GH19J049017 Promoter 0.7 EPDnew 12.9 -23.8 -23757 0.1 POLR2A EGR1 LHB LOC101059948 GYS1 RUVBL2 CGB7 NTF4
GH19J049020 Enhancer 0.7 FANTOM5 12.8 -27.7 -27716 0.3 KLF1 SP3 BHLHE40 SP2 MNT ZNF2 KLF16 ZNF692 GABPB1 ZNF169 LOC101059948 CGB3 GYS1 RUVBL2 CGB7 NTF4 CGB5
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around GYS1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the GYS1 gene promoter:
  • RFX1
  • ARP-1
  • ATF-2
  • E47
  • CRE-BP1
  • STAT1
  • GCNF
  • GCNF-1
  • GCNF-2
  • Pax-5

Genomic Locations for GYS1 Gene

Genomic Locations for GYS1 Gene
25,229 bases
Minus strand
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

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 isoforms=2599, Lys474, and Lys88
  • Modification sites at PhosphoSitePlus

Other Protein References for GYS1 Gene

No data available for DME Specific Peptides for GYS1 Gene

Domains & Families for GYS1 Gene

Gene Families for GYS1 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins

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

UniProtKB/Swiss-Prot Function:
Transfers the glycosyl residue from UDP-Glc to the non-reducing end of alpha-1,4-glucan.
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).
GENATLAS Biochemistry:
glycogen synthase,skeletal muscle,the rate limiting enzyme of the insulin-induced glycogenesis

Enzyme Numbers (IUBMB) for GYS1 Gene

Phenotypes From GWAS Catalog 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 IDA,IEA 16275910
GO:0005515 protein binding IPI 10481074
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 Gys1<tm1a(EUCOMM)Wtsi>

Animal Model Products

  • Taconic Biosciences Mouse Models for GYS1

Clone Products

  • Addgene plasmids for GYS1

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

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Microtubules (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for GYS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA,IBA --
GO:0005829 cytosol TAS --
GO:0016020 membrane HDA 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 TAS,IEA --
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 5'-diphosphate Experimental Pharma 0
Uridine diphosphate glucose 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

mRNA/cDNA for GYS1 Gene

Unigene Clusters for GYS1 Gene

Glycogen synthase 1 (muscle):
Representative Sequences:

Clone Products

  • Addgene plasmids for GYS1

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 CGAP 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, 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:


Evidence on tissue expression from TISSUES for GYS1 Gene

  • Muscle(4.8)
  • Nervous system(4.7)
  • Liver(4.5)
  • Skin(4.5)
  • Kidney(4.3)
  • Lung(2.8)
  • Heart(2.7)

Phenotype-based relationships between genes and organs from Gene ORGANizer for GYS1 Gene

Germ Layers:
  • ectoderm
  • mesoderm
  • cardiovascular
  • nervous
  • skeletal muscle
Head and neck:
  • brain
  • ear
  • head
  • heart
  • heart valve
genes like me logo Genes that share expression patterns with GYS1: view

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 33
  • 99.29 (n)
(Bos Taurus)
Mammalia GYS1 34 33
  • 91.12 (n)
(Canis familiaris)
Mammalia GYS1 34 33
  • 90.73 (n)
(Ornithorhynchus anatinus)
Mammalia GYS1 34
  • 90 (a)
(Mus musculus)
Mammalia Gys1 16 34 33
  • 87.38 (n)
(Rattus norvegicus)
Mammalia Gys1 33
  • 87.34 (n)
(Monodelphis domestica)
Mammalia GYS1 34
  • 85 (a)
(Anolis carolinensis)
Reptilia GYS1 34
  • 83 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100490155 33
  • 73.96 (n)
(Danio rerio)
Actinopterygii gys1 34 33
  • 73.28 (n)
-- 33
fruit fly
(Drosophila melanogaster)
Insecta CG6904 34 35 33
  • 62.52 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002586 33
  • 61.56 (n)
(Caenorhabditis elegans)
Secernentea gsy-1 34 33
  • 58.07 (n)
Y46G5A.31 35
  • 54 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AAR008W 33
  • 58.8 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GSY1 36 34 33
  • 56.2 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F23133g 33
  • 56.03 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU06687 33
  • 60.08 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 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)
Evolutionary constrained regions (ECRs) for GYS1: view image

Paralogs for GYS1 Gene

Paralogs for GYS1 Gene

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

  • B7Z806_HUMAN
  • F5H1N8_HUMAN
  • F5H3S3_HUMAN
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 Variation AA Info Type
rs1042265 benign, likely-benign, Neuroferritinopathy, Glycogen storage disease 0, muscle, Hyperferritinemia cataract syndrome 48,968,563(-) G/A 3_prime_UTR_variant, non_coding_transcript_variant
rs117997270 likely-benign, Hyperferritinemia cataract syndrome, Glycogen storage disease 0, muscle, Neuroferritinopathy 48,968,380(-) C/T 3_prime_UTR_variant, non_coding_transcript_variant
rs121434584 pathogenic, Glycogen storage disease 0, muscle 48,974,658(-) G/A coding_sequence_variant, non_coding_transcript_variant, stop_gained
rs138330298 uncertain-significance, Glycogen storage disease 0, muscle 48,985,972(-) C/T coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs142265031 likely-benign, Neuroferritinopathy, Hyperferritinemia cataract syndrome, not specified 48,969,459(-) G/A coding_sequence_variant, non_coding_transcript_variant, synonymous_variant

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)

Additional Variant Information for GYS1 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for GYS1 Gene

MalaCards: The human disease database

(8) MalaCards diseases for GYS1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
glycogen storage disease 0, muscle
  • gsd0b
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.

Additional Disease Information for GYS1

Genetic Association Database
Human Genome Epidemiology 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) Ruaño G … Hanks S (Clinica chimica acta; international journal of clinical chemistry 2009) 3 22 44 58
  2. Variation in GYS1 interacts with exercise and gender to predict cardiovascular mortality. (PMID: 17356695) Fredriksson J … Botnia Study Group (PloS one 2007) 3 22 44 58
  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 (Hypertension research : official journal of the Japanese Society of Hypertension 2006) 3 22 44 58
  4. Association of muscle glycogen synthase polymorphism with insulin resistance in type 2 diabetic patients. (PMID: 12870167) Motoyama K … Nishizawa Y (Metabolism: clinical and experimental 2003) 3 22 44 58
  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 (Chinese medical journal 2002) 3 22 44 58

Products for GYS1 Gene

  • Addgene plasmids for GYS1

Sources for GYS1 Gene

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