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GYS1 Gene

protein-coding   GIFtS: 71
GCID: GC19M049471

Glycogen Synthase 1 (Muscle)


(Previous symbol: GYS)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Glycogen Synthase 1 (Muscle)1 2
GYS1 2 3 5
EC 2.4.1.113 8
GSY2
Glycogen [Starch] Synthase, Muscle2

External Ids:    HGNC: 47061   Entrez Gene: 29972   Ensembl: ENSG000001048127   OMIM: 1385705   UniProtKB: P138073   

Export aliases for GYS1 gene to outside databases

Previous GC identifers: GC19M050129 GC19M049839 GC19M054147 GC19M054164 GC19M054165 GC19M054166 GC19M045849


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 type 0, muscle, and glycogen storage disease type 0. 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: GYS1_HUMAN, P13807
Function: Transfers the glycosyl residue from UDP-Glc to the non-reducing end of alpha-1,4-glucan




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000019.10  NC_018930.2  NT_011109.17  
Regulatory elements:
   Regulatory transcription factor binding sites in the GYS1 gene promoter:
         STAT1   RFX1   Pax-5   GCNF   ATF-2   E47   CRE-BP1   GCNF-1   ARP-1   GCNF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidGYS1 promoter sequence
   Search Chromatin IP Primers for GYS1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat GYS1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 19q13.3   Ensembl cytogenetic band:  19q13.33   HGNC cytogenetic band: 19q13.3

GYS1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GYS1 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19M049471:  view genomic region     (about GC identifiers)

Start:
49,471,382 bp from pter      End:
49,496,610 bp from pter
Size:
25,229 bases      Orientation:
minus strand
ORGUL member locations:
Legend (see complete legend)

ORGUL Member Locations for GYS1

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: GYS1_HUMAN, P13807 (See protein sequence)
Recommended Name: Glycogen [starch] synthase, muscle  
Size: 737 amino acids; 83786 Da
Subunit: Interacts with GYG1
Secondary accessions: Q9BTT9
Alternative splicing: 2 isoforms:  P13807-1   P13807-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for GYS1: NX_P13807

Explore proteomics data for GYS1 at MOPED

Post-translational modifications: 

  • 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 enzyme1
  • Ubiquitination2 at Lys88, Lys381, Lys474, Lys599
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for GYS1 (P13807) (see all 25)
     IFHPEFL  VDFYNNL  FPSYYEP  SVPPSPS 


    See GYS1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001155059.1  NP_002094.2  

    ENSEMBL proteins: 
     ENSP00000317904   ENSP00000263276   ENSP00000470072   ENSP00000437922   ENSP00000444004  
     ENSP00000445197  
    Reactome Protein details: P13807

    GYS1 Human Recombinant Protein Products:

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    Novus Biologicals GYS1 Proteins
    Novus Biologicals GYS1 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for GYS1

    GYS1 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of GYS1
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    Cell Signaling Technology (CST) Antibodies for GYS1 
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    ThermoFisher Antibody for GYS1
    LSBio Antibodies in human, mouse, rat for GYS1

    GYS1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for GYS1
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for GYS1
    Cloud-Clone Corp. CLIAs for GYS1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    GLT1: Glycosyltransferase group 1 domain containing

    1 InterPro protein domain:
     IPR008631 Glycogen_synth

    Graphical View of Domain Structure for InterPro Entry P13807

    ProtoNet protein and cluster: P13807

    1 Blocks protein domain: IPB008631 Glycogen synthase

    UniProtKB/Swiss-Prot: GYS1_HUMAN, P13807
    Similarity: Belongs to the glycosyltransferase 3 family


    GYS1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: GYS1_HUMAN, P13807
    Function: Transfers the glycosyl residue from UDP-Glc to the non-reducing end of alpha-1,4-glucan
    Catalytic activity: UDP-glucose ((1->4)-alpha-D-glucosyl)(n) = UDP + ((1->4)-alpha-D-glucosyl)(n+1)
    Enzyme regulation: 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 entry for GYS1:
    glycogen synthase,skeletal muscle,the rate limiting enzyme of the insulin-induced glycogenesis

         Enzyme Number (IUBMB): EC 2.4.1.111 2

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004373glycogen (starch) synthase activity IDA16275910
    GO:0005515protein binding IPI16189514
    GO:0005536glucose binding IEA--
    GO:0019901protein kinase binding IPI16275910
    GO:0061547glycogen synthase activity, transferring glucose-1-phosphate EXP--
         
    GYS1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for GYS1:
     Decreased POU5F1-GFP protein e 

         8 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Gys1):
     cardiovascular system  cellular  growth/size/body  homeostasis/metabolism  liver/biliary system 
     mortality/aging  muscle  respiratory system 

    GYS1 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for GYS1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for GYS1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for GYS1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for GYS1

    miRNA
    Products:
        
    miRTarBase miRNAs that target GYS1:
    hsa-mir-26b-5p (MIRT028992), hsa-mir-122-5p (MIRT003080), hsa-let-7b-5p (MIRT001626)

    Block miRNA regulation of human, mouse, rat GYS1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate GYS1 (see all 16):
    hsa-miR-3130-5p hsa-miR-140-5p hsa-miR-203 hsa-miR-516b hsa-miR-122 hsa-miR-4290 hsa-miR-548s hsa-miR-3171
    SwitchGear 3'UTR luciferase reporter plasmidGYS1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for GYS1
    Predesigned siRNA for gene silencing in human, mouse, rat GYS1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for GYS1

    Clone
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    OriGene clones in human, mouse for GYS1 (see all 12)
    OriGene ORF clones in mouse, rat for GYS1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): GYS1 (NM_002103)
    Sino Biological Human cDNA Clone for GYS1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for GYS1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GYS1

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for GYS1 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GYS1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol4
    nucleus3
    peroxisome1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm ----
    GO:0005829cytosol TAS--
    GO:0016234inclusion body IEA--

    GYS1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for GYS1 About   (see all 21)  
    See pathways by source

    SuperPathContained pathways About
    1Development IGF 1 receptor signaling
    Development IGF RI signaling0.49
    Development IGF 1 receptor signaling0.48
    Signal transduction AKT signaling0.49
    2Glucose metabolism
    Glucose metabolism0.44
    glycogen biosynthesis II (from UDP-D-Glucose)0.00
    Glycogen synthesis0.00
    3Glucuronidation
    Starch and sucrose metabolism0.41
    Glycogen metabolism0.00
    4Activation of cAMP-Dependent PKA
    Activation of cAMP-Dependent PKA0.77
    Activation of PKA through GPCR0.71
    cAMP Pathway0.77
    PKA Signaling0.56
    5Akt Signaling
    Akt Signaling0.60

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 R&D Systems Pathway for GYS1
        Adipocytokines & Insulin Signaling

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for GYS1 (see all 10)
        Activation of PKA through GPCR
    PKA Signaling
    IGF1R Signaling
    G-AlphaQ Signaling
    AMPK Enzyme Complex Pathway

    1 Cell Signaling Technology (CST) Pathway for GYS1
        Glucose / Energy Metabolism

    4 GeneGo (Thomson Reuters) Pathways for GYS1
        Signal transduction AKT signaling
    Galactose metabolism
    Development IGF-1 receptor signaling
    Glycogen metabolism

    5 BioSystems Pathways for GYS1
        Insulin Signaling
    Glycogen Metabolism
    AMPK signaling
    glycogen biosynthesis II (from UDP-D-Glucose)
    Insulin-mediated glucose transport


    2 Reactome Pathways for GYS1
        Glycogen synthesis
    Myoclonic epilepsy of Lafora


    3 Kegg Pathways  (Kegg details for GYS1):
        Starch and sucrose metabolism
    PI3K-Akt signaling pathway
    Insulin signaling pathway

    UniProtKB/Swiss-Prot: GYS1_HUMAN, P13807
    Pathway: Glycan biosynthesis; glycogen biosynthesis


    GYS1 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including GYS1: 

              Insulin Resistance in human mouse rat
              Hypoxia Signaling Pathway in human mouse rat
              Glucose Metabolism in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for GYS1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for GYS1 (P138071, 2, 3 ENSP000003179044) via UniProtKB, MINT, STRING, and/or I2D (see all 136)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GSK3BP498411, 3, ENSP000003248064EBI-740553,EBI-373586 I2D: score=3 STRING: ENSP00000324806
    GYG1P469761, 3, ENSP000003407364EBI-740553,EBI-740533 I2D: score=5 STRING: ENSP00000340736
    PASKQ96RG22, 3, ENSP000002340404MINT-8145300 I2D: score=1 STRING: ENSP00000234040
    PPP1CCP368733, ENSP000003350844I2D: score=5 STRING: ENSP00000335084
    CDK3Q005263, ENSP000004000884I2D: score=4 STRING: ENSP00000400088
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005975carbohydrate metabolic process TAS--
    GO:0005977glycogen metabolic process ----
    GO:0005978glycogen biosynthetic process TAS--
    GO:0006006glucose metabolic process TAS--
    GO:0007507heart development IEA--

    GYS1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for GYS1

    3 HMDB Compounds for GYS1    About this table
    CompoundSynonyms CAS #PubMed Ids
    Amylose4-{(1,4)-alpha-D-Glucosyl}(n-1)-D-glucose (see all 12)9005-82-7--
    Uridine 5'-diphosphate5'-UDP (see all 9)58-98-0--
    Uridine diphosphate glucose(UPD)-glucose (see all 24)133-89-1--

    9 Novoseek inferred chemical compound relationships for GYS1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    glycogen 88.8 161 20300197 (6), 8690177 (4), 8635676 (3), 1899428 (3) (see all 80)
    glucose 6-phosphate 74.5 6 1568529 (1), 1907347 (1), 1541385 (1), 1406297 (1)
    glucose 67.4 33 8635676 (2), 8690177 (2), 1541385 (2), 8591890 (1) (see all 24)
    xbai 52.4 4 10447527 (2), 12411100 (1)
    gliclazide 51.4 2 8690177 (2)
    epinephrine 25 3 8770022 (1), 19267278 (1)
    lipid 7.79 2 18220643 (1), 16609880 (1)
    forskolin 6.99 3 14764074 (2)
    phosphatidylinositol 1.46 1 11549666 (1)



    GYS1 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for GYS1 gene (2 alternative transcripts): 
    NM_001161587.1  NM_002103.4  

    Unigene Cluster for GYS1:

    Glycogen synthase 1 (muscle)
    Hs.386225  [show with all ESTs]
    Unigene Representative Sequence: NM_002103
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000323798(uc002plp.3 uc010emm.3 uc010xzz.2) ENST00000263276
    ENST00000594220 ENST00000472004 ENST00000496048 ENST00000484289 ENST00000457974
    ENST00000541188(uc010yaa.1) ENST00000544287 ENST00000540532
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate GYS1 (see all 16):
    hsa-miR-3130-5p hsa-miR-140-5p hsa-miR-203 hsa-miR-516b hsa-miR-122 hsa-miR-4290 hsa-miR-548s hsa-miR-3171
    SwitchGear 3'UTR luciferase reporter plasmidGYS1 3' UTR sequence
    Inhib. RNA
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    Clone
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): GYS1 (NM_002103)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for GYS1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GYS1
    Primer
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    OriGene qPCR primer pairs and template standards for GYS1
    OriGene qSTAR qPCR primer pairs in human, mouse for GYS1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat GYS1
      QuantiTect SYBR Green Assays in human, mouse, rat GYS1
      QuantiFast Probe-based Assays in human, mouse, rat GYS1

    Additional mRNA sequence: 

    AK223579.1 AK291672.1 AK294349.1 AK300369.1 AK302738.1 AK303712.1 BC002617.2 BC003182.1 
    BC007688.2 J04501.1 NR_027763.1 U32573.1 

    23 DOTS entries:

    DT.92457812  DT.100876890  DT.316174  DT.99994324  DT.95130309  DT.95130297  DT.121475102  DT.121475215 
    DT.92457818  DT.100810152  DT.100810155  DT.91918703  DT.100810145  DT.100810147  DT.121475165  DT.121475218 
    DT.121475223  DT.431628  DT.91738625  DT.98084031  DT.100791343  DT.40238683  DT.91657109 

    Selected AceView cDNA sequences (see all 307):

    AW732328 AW733113 BM666879 CR618373 AA082167 BQ181312 BP357448 BE791846 
    BE384042 CA423173 BM561740 CB138481 BM705088 BM910502 T29302 CB130062 
    CN484296 AA101161 BM480364 CD369580 AU104835 BC002617 BM551579 BM713749 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for GYS1    About this scheme

    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:                                                                                                                        


    ECgene alternative splicing isoforms for GYS1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    GYS1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGTGCTGTGC
    GYS1 Expression
    About this image


    GYS1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 11) fully expand
     
     Brain (Nervous System)    fully expand to see all 9 entries
             Cerebral Cortex
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Metencephalon
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Ovarian Mesenchymal Stroma Cells Ovary Interstitium
             Oviduct
     
     Thymus (Hematopoietic System)
             Thymus
     
     Gut Tube (Gastrointestinal Tract)
             Foregut
    GYS1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    GYS1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.386225
        Pathway & Disease-focused RT2 Profiler PCR Arrays including GYS1: 
              Insulin Resistance in human mouse rat
              Hypoxia Signaling Pathway in human mouse rat
              Glucose Metabolism in human mouse rat

    Primer
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for GYS1 gene from Selected species (see all 19)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Gys11 , 5 glycogen synthase 1, muscle1, 5 87.38(n)1
    96.74(a)1
      7 (29.31 cM)5
    149361  NM_030678.31  NP_109603.21 
     454348445 
    lizard
    (Anolis carolinensis)
    Reptilia GYS16
    glycogen synthase 1 (muscle)
    83(a)
    1 ↔ 1
    GL343287.1(45277-78637)
    African clawed frog
    (Xenopus laevis)
    Amphibia BJ066332.12   -- 77.96(n)    BJ066332.1 
    zebrafish
    (Danio rerio)
    Actinopterygii BC054932.12   -- 77.29(n)   394155  BC054932.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG69041 , 3 glycogen biosynthesis glycogen (starch)
    synthase3
    CG69041
    60(a)3
    62.52(n)1
    60.7(a)1
      88E23
    418231  NM_169610.21  NP_731967.21 
    worm
    (Caenorhabditis elegans)
    Secernentea Y46G5A.313
    gsy-11
    gsy-11 54(a)3
    58.07(n)1
    55.77(a)1
      II(12866742-12877985)3
    1749241  NM_064335.51  NP_496736.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes GSY1(YFR015C)4
    GSY11
    Glycogen synthase with similarity to Gsy2p, the more more4
    GSY11
    56.2(n)1
    58.04(a)1
      6(176391-174265)4
    8505691, 4  NP_116670.11, 4 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for GYS1 gene
    GYS22  
    1 SIMAP similar gene for GYS1 using alignment to 5 protein entries:     GYS1_HUMAN (see all proteins):
    GYS2

    GYS1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for GYS1 (see all 787)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs38379521,2
    C--49473486(-) TGGTAG/-GGGTC 3 -- int11Minor allele frequency- -:0.00NA 2
    rs114565051,2
    C--49476584(+) TTTTTT/-ATAGC 3 -- int1 trp31Minor allele frequency- -:0.00NA 2
    rs1410103581,2
    C--49478172(+) TTTTC-/TTTCT 
            
    TTTCT
    3 -- int10--------
    rs30867401,2
    C--49478176(+) ctttc-/TTTC  
     T
    /TTTTC
    tttta
    3 -- int1 trp30--------
    rs1124314261,2
    F--49478720(+) ACTCCC/TTTACC 3 -- int11Minor allele frequency- T:0.50CSA 2
    rs1443533631,2
    C--49481787(+) TTTAT-/TTATTA
            
    TTATT
    3 -- cds1 int10--------
    rs712943921,2
    C--49481792(-) CTGTCAATAAT/-
            
    AATAA
    3 -- cds1 int11Minor allele frequency- -:0.50NA 2
    rs358016771,2
    C--49482203(+) GCTTA-/GGACCC 3 -- int10--------
    rs576934491,2
    C,F--49482204(+) CTTAGG/AACCCA 3 -- int15Minor allele frequency- A:0.40NA WA EA 362
    rs610161641,2
    C,F--49482205(+) TTAGGA/TCCCAC 3 -- int16Minor allele frequency- T:0.40NA WA EA 364

    HapMap Linkage Disequilibrium report for GYS1 (49471382 - 49496610 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for GYS1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv833857CNV Loss17160897
    dgv3970n71CNV Loss21882294
    nsv833856CNV Loss17160897
    nsv912248CNV Loss21882294
    nsv9739CNV Gain+Loss18304495

    Human Gene Mutation Database (HGMD): GYS1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing GYS1
    DNA2.0 Custom Variant and Variant Library Synthesis for GYS1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 138570   
    OMIM disorders: 611556  
    UniProtKB/Swiss-Prot: GYS1_HUMAN, P13807
  • 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. Note=The disease is caused by mutations affecting the gene
    represented in this entry

  • Selected diseases for GYS1 (see all 28):    
    About MalaCards
    glycogen storage disease type 0, muscle    glycogen storage disease type 0    glucose intolerance    glycogen storage disease
    myoclonus epilepsy    progressive myoclonus epilepsy    myoclonus    hyperglycemia
    insulin resistance    hypoglycemia    pancreatic ductal adenocarcinoma    polycystic ovary syndrome
    diabetes mellitus    labyrinthitis    essential hypertension    hypertension
    myopathy    astrocytoma    hypoxia    obesity

    1 disease from the University of Copenhagen DISEASES database for GYS1:
    Glycogen storage disease

    GYS1 for disorders           About GeneDecksing

    8 Novoseek inferred disease relationships for GYS1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    insulin resistance 68.5 20 12870167 (4), 9267990 (2), 8591890 (1), 11110507 (1) (see all 13)
    niddm 67.1 40 8721777 (3), 8690177 (3), 9267990 (3), 1568529 (2) (see all 16)
    hyperinsulinemia 62.9 2 1907347 (1), 9240761 (1)
    insulin sensitivity 56.6 2 8536147 (1), 7498245 (1)
    hyperglycemia 41 3 1541385 (1), 10770201 (1), 12411100 (1)
    glucose intolerance 23.3 1 8786726 (1)
    hypoglycemia 17.2 4 8635676 (3), 8200993 (1)
    diabetes mellitus 0 2 1899428 (2)

    Genetic Association Database (GAD): GYS1
    Human Genome Epidemiology (HuGE) Navigator: GYS1 (17 documents)

    Export disorders for GYS1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for GYS1 gene, integrated from 10 sources (see all 149):
    (articles sorted by number of sources associating them with GYS1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Variation in GYS1 interacts with exercise and gender to predict cardiovascular mortality. (PubMed id 17356695)1, 4, 9 Fredriksson J....Orho-Melander M. (PLoS ONE 2007)
    2. Association of GYS1 and beta(3)-AR gene with postprandial hyperglycemia and serum uric acid in type 2 diabetes mellitus. (PubMed id 12411100)1, 4, 9 Wang G....Xu X. (Chin. Med. J. 2002)
    3. Association of muscle glycogen synthase polymorphism with insulin resistance in type 2 diabetic patients. (PubMed id 12870167)1, 4, 9 Motoyama K....Nishizawa Y. (Metab. Clin. Exp. 2003)
    4. The stimulation-induced increase in skeletal muscle glycogen synthase content is impaired in carriers of the glycogen synthase XbaI gene polymorphism. (PubMed id 11147787)1, 4, 9 St-Onge J....Simoneau J.A. (Diabetes 2001)
    5. Physiogenomic comparison of edema and BMI in patients receiving rosiglitazone or pioglitazone. (PubMed id 18996102)1, 4, 9 RuaA+o G....Hanks S. ( international journal of clinical chemistry 2009)
    6. Association of sixty-one non-synonymous polymorphisms in forty-one hypertension candidate genes with blood pressure variation and hypertension. (PubMed id 17137217)1, 4, 9 Kokubo Y....Miyata T. (Hypertens. Res. 2006)
    7. Combining genetic markers and clinical risk factors improves the risk assessment of impaired glucose metabolism. (PubMed id 20384434)1, 4 Ruchat S.M....PAcrusse L. (Ann. Med. 2010)
    8. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    9. Physiogenomic analysis of statin-treated patients: domain-specific counter effects within the ACACB gene on low-density lipoprotein cholesterol? (PubMed id 20602615)1, 4 RuaA+o G....Wu A.H. (Pharmacogenomics 2010)
    10. A candidate gene approach to genetic prognostic factors of IgA nephropathy--a result of Polymorphism REsearch to DIstinguish genetic factors Contributing To progression of IgA Nephropathy (PREDICT-IgAN). (PubMed id 19420105)1, 4 Yamamoto R....Rakugi H. (Nephrol. Dial. Transplant. 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 2997 HGNC: 4706 AceView: GYS1 Ensembl:ENSG00000104812 euGenes: HUgn2997
    ECgene: GYS1 Kegg: 2997 H-InvDB: GYS1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for GYS1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for GYS1 gene:
    Search GeneIP for patents involving GYS1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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