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    GYS1 glycogen synthase 1 (muscle) [ Homo sapiens ]

    Gene ID: 2997, updated on 11-May-2012
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    Summary

    Official Symbol
    GYS1provided by HGNC
    Official Full Name
    glycogen synthase 1 (muscle)provided by HGNC
    Primary source
    HGNC:4706
    See related
    Ensembl:ENSG00000104812; HPRD:00721; MIM:138570; Vega:OTTHUMG00000150723
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    GSY; GYS
    Summary
    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]
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    Genomic context

    Location :
    19q13.3
    Sequence :
    Chromosome: 19; NC_000019.9 (49471382..49496610, complement)
    See GYS1 in Epigenomics, MapViewer

    Chromosome 19 - NC_000019.9Genomic Context describing neighboring genes Neighboring gene BCL2-associated X protein Neighboring gene ferritin, light polypeptide Neighboring gene RuvB-like 2 (E. coli) Neighboring gene luteinizing hormone beta polypeptide

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    Genomic regions, transcripts, and products

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details
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    Bibliography

    Related articles in PubMed

    1. Ubiquitin ligase substrate identification through quantitative proteomics at both the protein and peptide levels. Lee KA, et al. J Biol Chem, 2011 Dec 2. PMID 21987572.
    2. Systematic and quantitative assessment of the ubiquitin-modified proteome. Kim W, et al. Mol Cell, 2011 Oct 21. PMID 21906983.
    3. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. Wagner SA, et al. Mol Cell Proteomics, 2011 Oct. PMID 21890473.
    4. Mass spectrometric analysis of lysine ubiquitylation reveals promiscuity at site level. Danielsen JM, et al. Mol Cell Proteomics, 2011 Mar. PMID 21139048.
    5. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. Bailey SD, et al. Diabetes Care, 2010 Oct. PMID 20628086.

    See all (55) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. GYS1 regulation by HIF plays a central role in the hypoxic accumulation of glycogen, and hypoxia also upregulates the expression of UTP:glucose-1-phosphate urydylyltransferase (UGP2) and 1,4-alpha glucan branching enzyme (GBE1)
      Title: Hypoxia promotes glycogen accumulation through hypoxia inducible factor (HIF)-mediated induction of glycogen synthase 1.
    2. Exercise unmaskd the effect associated with the GYS1 polymorphism, rendering carriers of this allele less susceptible to the protective effect of exercise on the risk of cardiovascular mortality.
      Title: Variation in GYS1 interacts with exercise and gender to predict cardiovascular mortality.
    3. Dysregulation of glycogen synthase phosphorylation plays a major role in impaired insulin regulation of GS in obesity and type 2 diabetes mellitus.
      Title: Dysregulation of glycogen synthase COOH- and NH2-terminal phosphorylation by insulin in obesity and type 2 diabetes mellitus.
    4. The regulation of glucose-6-phosphate dehydrogenase and glycogen synthase activities by insulin superfamily peptides in myometrium of pregnant women and its impairments under different types of diabetes mellitus
      Title: [The regulation of glucose-6-phosphate dehydrogenase and glycogen synthase activities by insulin superfamily peptides in myometrium of pregnant women and its impairments under different types of diabetes mellitus].
    5. Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Combining genetic markers and clinical risk factors improves the risk assessment of impaired glucose metabolism.
    6. After overnight low muscle glycogen level and/or in response to exhausting exercise-induced glycogenolysis, GSY is associated with spherical structures at the I-band of sarcomeres.
      Title: Dual regulation of muscle glycogen synthase during exercise by activation and compartmentalization.
    7. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
    8. Pioglitazone treatment improved insulin-stimulated glucose metabolism and glycogen synthase activity in PCOS.
      Title: Impaired insulin activation and dephosphorylation of glycogen synthase in skeletal muscle of women with polycystic ovary syndrome is reversed by pioglitazone treatment.
    9. Observational study of gene-environment interaction and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: A study to survey susceptible genetic factors responsible for troglitazone-associated hepatotoxicity in Japanese patients with type 2 diabetes mellitus.
    10. Observational study of gene-disease association. (HuGE Navigator)
      Title: Physiogenomic analysis of statin-treated patients: domain-specific counter effects within the ACACB gene on low-density lipoprotein cholesterol?
    Submit: New GeneRIF Correction See all (16)
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    Phenotypes

    Review eQTL and phenotype association data in this region using PheGenI

    Diabetes mellitus, noninsulin-dependent

    Glycogen storage disease 0, muscle

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    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    P13807 P68400 CSNK2A1    HPRD  PubMed  
    P13807 P49841 GSK3B    HPRD  PubMed  
    P13807 P46976 GYG1    HPRD  PubMed  
    P13807 O15488 GYG2    HPRD  PubMed  
    P13807 Q8IW41 MAPKAPK5    HPRD  PubMed  
    P13807 P17612 PRKACA    HPRD  PubMed  
    BioGRID:109252 BioGRID:117223 GABARAPL1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:109252 BioGRID:109247 GYG1    BioGRID  PubMed Two-hybrid 
    BioGRID:109252 BioGRID:114422 GYG2    BioGRID  PubMed Two-hybrid 
    BioGRID:109252 BioGRID:132073 NHLRC1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:109252 BioGRID:120738 OTUD5    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:109252 BioGRID:111550 PRKAA2    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:109252 BioGRID:111551 PRKAB1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:109252 BioGRID:111552 PRKAB2    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:109252 BioGRID:116593 SIRT2    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:109252 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS 
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    General gene information

    Markers

    Genotypes

    Homology

    • Homologs of the GYS1 gene: The GYS1 gene is conserved in chimpanzee, , dog, cow, mouse, rat, zebrafish, fruit fly, mosquito, C.elegans, S.cerevisiae, K.lactis, , , and N.crassa.
    • Map Viewer (Mouse, Rat)

    Pathways from BioSystems

    • Glucose metabolism, organism-specific biosystem (from REACTOME)
      Glucose metabolism, organism-specific biosystemGlucose is the major form in which dietary sugars are made available to cells of the human body. Its breakdown is a major source of energy for all cells, and is essential for the brain and red blood ...
    • Glycogen Metabolism, organism-specific biosystem (from WikiPathways)
      Glycogen Metabolism, organism-specific biosystemGlycogen is a very large, branched polymer of glucose residues. Within skeletal musle and liver glucose is stored as glycogen. In the liver, glycogen synthesis and degradation are regulated to mainta...
    • Glycogen synthesis, organism-specific biosystem (from REACTOME)
      Glycogen synthesis, organism-specific biosystemGlycogen, a highly branched glucose polymer, is formed and broken down in most human tissues, but is most abundant in liver and muscle, where it serves as a major stored fuel. Glycogen metabolism has...
    • Insulin Signaling, organism-specific biosystem (from WikiPathways)
      Insulin Signaling, organism-specific biosystem
      Insulin Signaling
    • Insulin signaling pathway, organism-specific biosystem (from KEGG)
      Insulin signaling pathway, organism-specific biosystemInsulin binding to its receptor results in the tyrosine phosphorylation of insulin receptor substrates (IRS) by the insulin receptor tyrosine kinase (INSR). This allows association of IRSs with the r...
    • Insulin signaling pathway, conserved biosystem (from KEGG)
      Insulin signaling pathway, conserved biosystemInsulin binding to its receptor results in the tyrosine phosphorylation of insulin receptor substrates (IRS) by the insulin receptor tyrosine kinase (INSR). This allows association of IRSs with the r...
    • Insulin-mediated glucose transport, organism-specific biosystem (from Pathway Interaction Database)
      Insulin-mediated glucose transport, organism-specific biosystem
      Insulin-mediated glucose transport
    • Metabolism, organism-specific biosystem (from REACTOME)
      Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
    • Metabolism of carbohydrates, organism-specific biosystem (from REACTOME)
      Metabolism of carbohydrates, organism-specific biosystemThese pathways together are responsible for: 1) the extraction of energy and carbon skeletons for biosyntheses from dietary sugars and related molecules; 2) the short-term storage of glucose in the b...
    • Starch and sucrose metabolism, organism-specific biosystem (from KEGG)
      Starch and sucrose metabolism, organism-specific biosystem
      Starch and sucrose metabolism
    • Starch and sucrose metabolism, conserved biosystem (from KEGG)
      Starch and sucrose metabolism, conserved biosystem
      Starch and sucrose metabolism
    • glycogen biosynthesis II (from UDP-D-Glucose), organism-specific biosystem (from BIOCYC)
      glycogen biosynthesis II (from UDP-D-Glucose), organism-specific biosystemGeneral Background : 6-alpha-D--1-4-alpha-D-Glucano--Glucan is a megadalton-sized glucose polymer and a major reservoir of readily available energy and carbon compounds in humans. The linkages betw...
    • glycogen biosynthesis II (from UDP-D-Glucose), conserved biosystem (from BIOCYC)
      glycogen biosynthesis II (from UDP-D-Glucose), conserved biosystemGeneral Background |FRAME: Glycogens Glycogen| and |FRAME: Starch|, megadalton-sized glucose polymers, are the major reservoir of readily available energy and carbon compounds in most living organis...

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    glucose binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    glycogen (starch) synthase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    glycogen (starch) synthase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    protein kinase binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    transferase activity, transferring glycosyl groups IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    carbohydrate metabolic process TAS
    Traceable Author Statement
    more info
    		  
    glucose metabolic process TAS
    Traceable Author Statement
    more info
    		  
    glycogen biosynthetic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    glycogen biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    glycogen biosynthetic process TAS
    Traceable Author Statement
    more info
    		  
    heart development IEA
    Inferred from Electronic Annotation
    more info
    		  
    small molecule metabolic process TAS
    Traceable Author Statement
    more info
    		  
    Component Evidence Code Pubs
    cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    cytosol TAS
    Traceable Author Statement
    more info
    		  
    inclusion body IEA
    Inferred from Electronic Annotation
    more info
    		  
    soluble fraction IEA
    Inferred from Electronic Annotation
    more info
    		  
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    General protein information

    Preferred Names
    glycogen [starch] synthase, muscle
    Names
    glycogen [starch] synthase, muscle
    NP_001155059.1
    NP_002094.2
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    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_012923.1 RefSeqGene

      Range
      5001..30229
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001161587.1 → NP_001155059.1  glycogen [starch] synthase, muscle isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) is missing an in-frame coding exon at the 3' end compared to variant 1, resulting in a shorter isoform (2) lacking an internal protein segment compared to isoform 1.
      Source sequence(s)
      BC002617, BC003182, BP313940
      Consensus CDS
      CCDS54292.1
      UniProtKB/Swiss-Prot
      P13807
      Related
      ENSP00000263276, OTTHUMP00000198373, ENST00000263276, OTTHUMT00000319796
      Conserved Domains (1) summary
      cl10013
      Location:101 – 551
      Blast Score: 2447
      Glycosyltransferase_GTB_type; Glycosyltransferases catalyze the transfer of sugar moieties from activated donor molecules to specific acceptor molecules, forming glycosidic bonds. The acceptor molecule can be a lipid, a protein, a heterocyclic compound, or another carbohydrate ...

    2. NM_002103.4 → NP_002094.2  glycogen [starch] synthase, muscle isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1)
      Source sequence(s)
      BC002617, BP313940
      Consensus CDS
      CCDS12747.1
      UniProtKB/Swiss-Prot
      P13807
      Related
      ENSP00000317904, OTTHUMP00000198371, ENST00000323798, OTTHUMT00000319791
      Conserved Domains (2) summary
      cd03793
      Location:26 – 615
      Blast Score: 3105
      GT1_Glycogen_synthase_GSY2_like; Glycogen synthase, which is most closely related to the GT1 family of glycosyltransferases, catalyzes the transfer of a glucose molecule from UDP-glucose to a terminal branch of a glycogen molecule, a rate-limit step of glycogen biosynthesis. GSY2, the ...
      pfam05693
      Location:31 – 663
      Blast Score: 3186
      Glycogen_syn; Glycogen synthase

    RNA

    1. NR_027763.1 RNA Sequence

      Description
      Transcript Variant: This variant (3) is missing an exon at the 3' end compared to variant 1. It is represented as non-coding because the use of the 5'-most translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AK302738, BC002617, BP313940

    RefSeqs of Annotated Genomes: Build 37.3

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000019.9 Reference GRCh37.p5 Primary Assembly

      Range
      49471382..49496610, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000151.1 Alternate HuRef

      Range
      45848297..45873316, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AC008687.5 (1367..4598) None
    genomic AC026803.7 (205457..224270) None
    genomic AC098792.2 (1213..4334) None
    genomic CH471177.1 EAW52424.1
      EAW52425.1
    genomic Z33622.1 CAA83916.1
    mRNA AK223579.1 BAD97299.1
    mRNA AK291672.1 BAF84361.1
    mRNA AK294349.1 BAH11741.1
    mRNA AK300369.1 BAH13272.1
    mRNA AK302738.1 BAH13792.1
    mRNA AK303712.1 BAH14026.1
    mRNA BC002617.2 AAH02617.1
    mRNA BC003182.1 AAH03182.1
    mRNA BC007688.2 AAH07688.1
    mRNA BP313940.1 None
    mRNA J04501.1 AAA88046.1
    mRNA U32573.1 AAB60385.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    P13807.2 GenPept UniProtKB/Swiss-Prot:P13807
    Q53ER0 GenPept UniProtKB/TrEMBL:Q53ER0
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    Additional Links

    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Medical
    Molecular Biology Databases
    Research Materials
    Tools
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