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Aliases for GYS1 Gene

Aliases for GYS1 Gene

  • Glycogen Synthase 1 (Muscle) 2 3
  • EC 2.4.1.11 4 63
  • GYS 3 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 (Muscle)) is a Protein Coding gene. Diseases associated with GYS1 include glycogen storage disease 0, muscle and glycogen storage disease due to muscle and heart glycogen synthase deficiency. Among its related pathways are PI3K-Akt signaling pathway and Infectious disease. 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

Genomic Location for GYS1 Gene

Chromosome:
19
Start:
48,968,125 bp from pter
End:
48,993,353 bp from pter
Size:
25,229 bases
Orientation:
Minus strand

Genomic View for GYS1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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:
    P13807-GYS1_HUMAN
    Recommended name:
    Glycogen [starch] synthase, muscle
    Protein Accession:
    P13807
    Secondary Accessions:
    • Q9BTT9

    Protein attributes for GYS1 Gene

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

    Alternative splice isoforms for GYS1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GYS1 Gene

Proteomics data for GYS1 Gene at MOPED

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

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for GYS1 (GYS1)

Domains & Families for GYS1 Gene

Gene Families for GYS1 Gene

Protein Domains for GYS1 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for GYS1 Gene

Graphical View of Domain Structure for InterPro Entry

P13807

UniProtKB/Swiss-Prot:

GYS1_HUMAN :
  • Belongs to the glycosyltransferase 3 family.
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 IDA 16275910
GO:0005515 protein binding IPI 16189514
GO:0005536 glucose binding IEA --
GO:0019901 protein kinase binding IPI 16275910
GO:0061547 glycogen synthase activity, transferring glucose-1-phosphate EXP --
genes like me logo Genes that share ontologies with GYS1: view
genes like me logo Genes that share phenotypes with GYS1: view

Animal Model Products

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for GYS1 Gene

Localization for GYS1 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for GYS1 Gene COMPARTMENTS Subcellular localization image for GYS1 gene
Compartment Confidence
cytosol 4
cytoskeleton 2

Gene Ontology (GO) - Cellular Components for GYS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA --
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

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

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:0005975 carbohydrate metabolic process TAS --
GO:0005977 glycogen metabolic process --
GO:0005978 glycogen biosynthetic process TAS --
GO:0006006 glucose metabolic process TAS --
GO:0007507 heart development IEA --
genes like me logo Genes that share ontologies with GYS1: view

Drugs & Compounds for GYS1 Gene

(5) Drugs for GYS1 Gene - From: NovoSeek and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Epinephrine Approved Pharma 768
Gliclazide Approved Pharma 49
Uridine 5'-diphosphate Experimental Pharma 0
Forskolin Experimental Pharma 0
Glucose 6-phosphate Experimental Pharma 0

(7) Additional Compounds for GYS1 Gene - From: NovoSeek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
amylose
  • (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
9005-82-7
Uridine diphosphate glucose
  • (UDP)glucose
  • (UPD)-glucose
  • UDP Glucose
  • UDP-a-D-Glucose
  • UDP-alpha-D-Glucose
133-89-1
glucose
Glycogen
  • Animal starch
  • Glycogen
  • Liver starch
  • Lyoglycogen
  • Phytoglycogen
9005-79-2
LIPID
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

  • Predesigned siRNA for gene silencing in human,mouse,rat 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: - - -
SP3:
SP4:

Relevant External Links for GYS1 Gene

GeneLoc Exon Structure for
GYS1
ECgene alternative splicing isoforms for
GYS1

Expression for GYS1 Gene

mRNA expression in normal human tissues 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, MOPED, and MaxQB for GYS1 Gene



SOURCE GeneReport for Unigene cluster for GYS1 Gene Hs.386225

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

Protein tissue co-expression partners for GYS1 Gene

- Elite partner

Primer Products

In Situ Assay 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
cow
(Bos Taurus)
Mammalia GYS1 35
  • 91.12 (n)
  • 97.55 (a)
GYS1 36
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GYS1 35
  • 90.73 (n)
  • 96.33 (a)
GYS1 36
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gys1 35
  • 87.38 (n)
  • 96.74 (a)
Gys1 16
Gys1 36
  • 96 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia GYS1 35
  • 99.29 (n)
  • 99.43 (a)
GYS1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gys1 35
  • 87.34 (n)
  • 96.74 (a)
oppossum
(Monodelphis domestica)
Mammalia GYS1 36
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GYS1 36
  • 90 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GYS1 36
  • 83 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100490155 35
  • 73.96 (n)
  • 83.08 (a)
zebrafish
(Danio rerio)
Actinopterygii -- 35
gys1 35
  • 73.28 (n)
  • 83.53 (a)
gys1 36
  • 81 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG6904 37
  • 60 (a)
CG6904 35
  • 62.52 (n)
  • 60.7 (a)
CG6904 36
  • 55 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002586 35
  • 61.56 (n)
  • 60.24 (a)
worm
(Caenorhabditis elegans)
Secernentea Y46G5A.31 37
  • 54 (a)
gsy-1 35
  • 58.07 (n)
  • 55.77 (a)
gsy-1 36
  • 52 (a)
OneToMany
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AAR008W 35
  • 58.8 (n)
  • 58.43 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F23133g 35
  • 56.03 (n)
  • 56.98 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GSY1 35
  • 56.2 (n)
  • 58.04 (a)
GSY1 36
  • 52 (a)
OneToMany
GSY1 38
bread mold
(Neurospora crassa)
Ascomycetes NCU06687 35
  • 60.08 (n)
  • 59.32 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 58 (a)
OneToMany
Species with no ortholog for GYS1:
  • 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

ENSEMBL:
Gene Tree for GYS1 (if available)
TreeFam:
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 MAF
rs5447 - 48,977,986(-) CCGAC(A/G)TGAAC reference, missense, nc-transcript-variant
rs5448 -- 48,974,217(-) TACAC(A/G)CCGGG reference, synonymous-codon, nc-transcript-variant
rs5449 -- 48,974,206(-) TGAGT(A/G)TAGTG intron-variant
rs5450 - 48,969,810(+) TTCCA(C/G)AGCAC missense, reference, nc-transcript-variant
rs5451 -- 48,969,576(-) TCGGT(A/G)CCACC synonymous-codon, reference, nc-transcript-variant

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

Variant ID Type Subtype PubMed ID
nsv9739 CNV Gain+Loss 18304495
nsv833856 CNV Loss 17160897
nsv833857 CNV Loss 17160897
nsv912248 CNV Loss 21882294
dgv3970n71 CNV Loss 21882294

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

HapMap Linkage Disequilibrium report
GYS1
Human Gene Mutation Database (HGMD)
GYS1

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

Disorders for GYS1 Gene

MalaCards: The human disease database

(9) 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 due to muscle and heart glycogen synthase deficiency
  • gsd due to muscle and heart glycogen synthase deficiency
fasting hypoglycemia
gorham's disease
  • essential osteolysis
glycogen storage disease type 0
  • glycogen storage disease 0, liver
- elite association
Search GYS1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

GYS1_HUMAN
  • 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)
GYS1
Human Genome Epidemiology (HuGE) Navigator
GYS1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GYS1
genes like me logo Genes that share disorders with GYS1: view

No data available for Genatlas for GYS1 Gene

Publications for GYS1 Gene

  1. Hypoxia promotes glycogen accumulation through hypoxia inducible factor (HIF)-mediated induction of glycogen synthase 1. (PMID: 20300197) Pescador N. … del Peso L. (PLoS ONE 2010) 23 67
  2. Impaired glucose tolerance and predisposition to the fasted state in liver glycogen synthase knock-out mice. (PMID: 20178984) Irimia J.M. … Roach P.J. (J. Biol. Chem. 2010) 23 67
  3. Physiogenomic comparison of edema and BMI in patients receiving rosiglitazone or pioglitazone. (PMID: 18996102) RuaA+o G. … Hanks S. (Clin. Chim. Acta 2009) 23 67
  4. Regulation of muscle glycogen synthase phosphorylation and kinetic properties by insulin, exercise, adrenaline and role in insulin resistance. (PMID: 19267278) Jensen J. … Lai Y.C. (Arch. Physiol. Biochem. 2009) 23 67
  5. Identification of a novel mutation in GYS1 (muscle-specific glycogen synthase) resulting in sudden cardiac death, that is diagnosable from skin fibroblasts. (PMID: 19699667) Cameron J.M. … Robinson B.H. (Mol. Genet. Metab. 2009) 23 67

Products for GYS1 Gene

Sources for GYS1 Gene

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