Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 
or upload a file of gene symbols


Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

GYS1 Gene

protein-coding   GIFtS: 71
GCID: GC19M049471

glycogen synthase 1 (muscle)


(Previous symbol: GYS)
 Explore 27 diseases affiliated with
GYS1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for GYS1    

Aliases
for GYS1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Glycogen Synthase 1 (Muscle)1 2
GYS1 2 3 5
GSY1 2
EC 2.4.1.113 8
Glycogen [Starch] Synthase, Muscle2

External Ids:    HGNC: 47061   Entrez Gene: 29972   Ensembl: ENSG000001048127   OMIM: 1385705   UniProtKB: P138073   
ORGUL members:         
NONCODE:n408008    

Export aliases for GYS1 gene to outside databases

Previous GC identifers: GC19M050129 GC19M049839 GC19M054147 GC19M054164 GC19M054165 GC19M054166 GC19M045849


Summaries
for GYS1 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for GYS1:
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)

UniProtKB/Swiss-Prot: GYS1_HUMAN, P13807
Function: Transfers the glycosyl residue from UDP-Glc to the non-reducing end of alpha-1,4-glucan




Genomic Views
for GYS1 gene

(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000019.9  NC_018930.1  NT_011109.16  
Regulatory elements:
   SABiosciences 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 plasmid: GYS1 promoter sequence
   Search SABiosciences Chromatin IP Primers for GYS1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for GYS1 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
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

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
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P13807

    • 4/25 DME Specific Peptides for GYS1 (P13807) (see all 25)
     IFHPEFL  VDFYNNL  FPSYYEP  SVPPSPS 

    GYS1 Protein expression data from MOPED and PaxDb:    About this image 
    GYS1 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001155059.1  NP_002094.2  

    ENSEMBL proteins: 
     ENSP00000317904   ENSP00000263276   ENSP00000406810   ENSP00000437922   ENSP00000444004  
     ENSP00000445197  
    Reactome Protein details: P13807
    Human Recombinant Protein Products for GYS1: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein: GYS1
    OriGene Protein Over-expression Lysate: GYS1
    OriGene Custom Protein Services for GYS1 
    GenScript Custom Purified and Recombinant Proteins Services for GYS1
    Novus Biologicals GYS1 Proteins
    Novus Biologicals GYS1 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for GYS1

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005625soluble fraction ----
    GO:0005737cytoplasm ----
    GO:0005829cytosol TAS--
    GO:0016234inclusion body IEA--

    GYS1 for ontologies           About GeneDecksing



    GYS1 Antibody Products: 
    EMD Millipore Mono- and Polyclonal Antibodies for the study of GYS1
    Browse R&D Systems for Antibodies
    Cell Signaling Technology (CST) Antibodies for GYS1 
    OriGene Antibodies (see all 3): GYS1
    OriGene Custom Antibody Services for GYS1 
    GenScript Custom Superior Antibodies Services for GYS1
    Novus Biologicals GYS1 Antibodies
    Abcam antibodies for GYS1 
    Uscn Antibodies for GYS1
    ThermoFisher Antibody for GYS1

    Assay Products for GYS1: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Immunoassay Development
    Browse OriGene Fluorogenic Cell Assay Kits
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for GYS1
    Browse Enzo Life Sciences for kits & assays
    Uscn ELISAs and CLIAs for GYS1

    Protein Domains /
    Families
    for GYS1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    GYS1 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR008631 Glycogen_synth

    Graphical View of Domain Structure for InterPro Entry P13807

    ProtoNet protein and cluster: P13807

    1 Blocks protein family: IPB008631 Glycogen synthase

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


    Function
    for GYS1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    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): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004373glycogen (starch) synthase activity IDA16275910
    GO:0005515protein binding IPI17055998
    GO:0005536glucose binding IEA--
    GO:0019901protein kinase binding IPI16275910
         
    GYS1 for ontologies           About GeneDecksing


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

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

    GYS1 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for GYS1 

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

    OriGene 3'-UTR Clone (see all 2): GYS1
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat GYS1
    8/16 QIAGEN miScript miRNA 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 plasmid: GYS1 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for GYS1 (see all 7)
    OriGene shRNA RFP: GYS1
    OriGene siRNA: GYS1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat GYS1
    Sirion Biotech Custom design and validation of potent shRNA sequences against GYS1 

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for GYS1
    Sirion Biotech Customized adenovirus for overexpression of GYS1 
    Sirion Biotech Customized adenovirus for potent knockdown of GYS1

    Clone
    Products:             		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for GYS1 (see all 4)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for GYS1 (see all 2)
    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)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for GYS1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GYS1 

    Cell Line
    Products:             		GenScript Custom overexpressing Cell Line Services for GYS1
    Search LifeMap BioReagents cell lines for GYS1
    Sirion Biotech Customized stable knockdown cell line services for GYS1 
    Sirion Biotech Customized inducible knockdown cell line services for GYS1
    Sirion Biotech Customized stable overexpressing cell line services for GYS1
    Sirion Biotech Customized inducible overexpressing cell line services for GYS1

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GYS1


    Pathways & Interactions
    for GYS1 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/21 super-pathways (see all 21) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Galactose metabolism
    		Galactose metabolism1.00
    		Glycogen metabolism0.40
    		Galactose metabolism0.95
    		Glycogen metabolism0.40
    2Development IGF-RI signaling
    		Development IGF-RI signaling1.00
    		Signal transduction_AKT signaling0.49
    		Development_IGF-1 receptor signaling0.99
    		Signal transduction AKT signaling0.49
    3Activation of cAMP-Dependent PKA
    		Activation of cAMP-Dependent PKA1.00
    		Activation of PKA through GPCR0.71
    		cAMP Pathway0.77
    		PKA Signaling0.56
    4glycogen biosynthesis II (from UDP-D-Glucose)
    		glycogen biosynthesis II (from UDP-D-Glucose)1.00
    		Glycogen synthesis0.75
    5Glucose / Energy Metabolism
    		Glucose / Energy Metabolism1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    4 EMD Millipore Pathways for GYS1
        Signal transduction AKT signaling
    Glycogen metabolism
    Galactose metabolism
    Development IGF-RI signaling

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

    5/10 Downloadable PowerPoint Slides of QIAGEN 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 
        Glycogen Metabolism
    AMPK signaling
    glycogen biosynthesis II (from UDP-D-Glucose)
    Insulin Signaling
    Insulin-mediated glucose transport

    4        Reactome Pathways for GYS1
        Metabolism of carbohydrates
    Metabolism
    Glucose metabolism
    Glycogen synthesis


    2         Kegg Pathways  (Kegg details for GYS1):
        Starch and sucrose metabolism
    Insulin signaling pathway

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


    GYS1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for GYS1

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

    5/103 Interacting proteins for GYS1 (P138071, 2, 3 ENSP000003179044) via UniProtKB, MINT, STRING, and/or I2D (see all 103)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    GYG1P469761, 3, ENSP000003407364EBI-2948518,EBI-740533 I2D: score=5 STRING: ENSP00000340736
    PASKQ96RG22, 3, ENSP000002340404MINT-8145300 I2D: score=1 STRING: ENSP00000234040
    PPP1CCP368733, ENSP000003350844I2D: score=5 STRING: ENSP00000335084
    SOD2P041793, ENSP000003371274I2D: score=4 STRING: ENSP00000337127
    GSK3BP498413, ENSP000003248064I2D: score=3 STRING: ENSP00000324806
    About this table

    Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6):    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



    Drugs & Compounds
    for GYS1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    GYS1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    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 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)

    Search CenterWatch for drugs/clinical trials and news about GYS1 

    Transcripts
    for GYS1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    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
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000323798(uc002plp.3 uc010emm.3 uc010xzz.2) ENST00000263276
    ENST00000472004 ENST00000496048 ENST00000484289 ENST00000457974 ENST00000541188(uc010yaa.1)
    ENST00000544287 ENST00000540532

    miRNA
    Products:             		 OriGene 3'-UTR Clone (see all 2): GYS1
    Browse OriGene MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat GYS1
    8/16 QIAGEN miScript miRNA 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 plasmid: GYS1 3' UTR sequence
    Inhib. RNA
    Products:             		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for GYS1 (see all 7)
    OriGene shRNA RFP: GYS1
    OriGene siRNA: GYS1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat GYS1
    Sirion Biotech Custom design and validation of potent shRNA sequences against GYS1 
    Clone
    Products:             		 OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for GYS1 (see all 4)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for GYS1 (see all 2)
    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
    Products:            		 OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for GYS1
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat GYS1
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat GYS1
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat GYS1

    Additional cDNA 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 

    24/307 AceView cDNA sequences (see all 307):

    BU738817 BF969213 BC003182 AA101161 BM705088 BP367631 BU633008 BE791846 
    BM666879 CD722756 BC002617 BE384042 AA082167 BC007688 BG393500 CB147300 
    T29302 BU194389 CB135629 BM819308 BM695104 CN484296 CB130062 AU099243 

    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

    Expression
    for GYS1 gene

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    GYS1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TGTGCTGTGC
    GYS1 Expression
    About this image
    See GYS1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for GYS1

    SOURCE GeneReport for Unigene cluster: Hs.386225
        SABiosciences Expression via Pathway-Focused PCR Arrays including GYS1: 

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

    Primer
    Products:    		 OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for GYS1
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat GYS1
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat GYS1
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat GYS1
    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GYS1

    Orthologs
    for GYS1 gene

    (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)
    About This Section
    This gene was present in the common ancestor of animals and fungi.

    Orthologs for GYS1 gene from 7/26 species (see all 26)    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
    		 --
    		 83(a)
    		 1 ↔ 1
    		 GL343287.1(45277-75937)
    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
    62.41(n)1
    60.64(a)1    		   88E23
    418231  NM_142165.21  NP_650422.11 
    worm
    (Caenorhabditis elegans)    		 Secernentea Y46G5A.313
    gsy-11    		 Protein GSY-11 54(a)3
    58.07(n)1
    55.77(a)1    		   II(12866742-12877985)3
    1749241  NM_064335.41  NP_496736.11 
    baker's yeast
    (Saccharomyces cerevisiae)    		 Saccharomycetes GSY1(YFR015C)4
    GSY21    		 Glycogen synthase with similarity to Gsy2p, the more more4
    Gsy2p1    		 54.71(n)1
    57.62(a)1    		   6(176391-174265)4
    8509621  NP_013359.11  8505694 
     NP_116670.14 


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

    Paralogs
    for GYS1 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    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



    Genomic Variants
    for GYS1 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/609 NCBI SNPs in GYS1 are shown (see all 609)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 19 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1391275041,2
    		--49470911(+) TGGCCC/TGAGCT 3 -- ds50010--------
    rs1164398141,2
    		F--49471235(+) TCACTT/CGAGCC 3 -- ds50011Minor allele frequency- C:0.03WA 118
    rs10394421,2
    		C,F,A,H--49471330(-) CCAGTA/GCCACC 3 -- ds500132Minor allele frequency- C:0.01NA EA NS WA CSA 2751
    rs1483969221,2
    		--49471429(+) GGACA-/CACT  
                CCAAT     		3 -- ut31 nc-transcript-variant0--------
    rs1179972701,2
    		F--49471637(+) AGTAAC/TGTGGT 3 -- ut31 nc-transcript-variant1Minor allele frequency- T:0.02NA 120
    rs757976041,2
    		C,F--49471704(+) GCAGTT/CGGGAA 3 -- ut31 nc-transcript-variant1Minor allele frequency- C:0.03WA 118
    rs10422651,2
    		C,F,O,A,H--49471820(-) TCTGGC/TCCTTT 3 -- ut31 nc-transcript-variantese322Minor allele frequency- T:0.10MN NS EA NA WA 3087
    rs37456931,2
    		C,F--49472095(-) CCTGCG/AAATGG 3 -- nc-transcript-variantut31 ese31Minor allele frequency- A:0.03EA 120
    rs1815660661,2
    		--49472124(+) GAACTC/TGGTGG 3 -- nc-transcript-variantut310--------
    rs1431431161,2
    		--49472140(+) ATGCCA/GGGCCT 3 -- ut31 nc-transcript-variant0--------

    HapMap Linkage Disequilibrium report for GYS1 (49471382 - 49496610 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 2 variations for GYS1
         2 CNVs: 5108 32261
    Human Gene Mutation Database (HGMD): GYS1

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing GYS1
    DNA2.0 Custom Variant and Variant Library Synthesis for GYS1

    Disorders / Diseases
    for GYS1 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    GYS1 for disorders           About GeneDecksing

    OMIM gene information: 138570   
    OMIM disorders: 611556  
    UniProtKB/Swiss-Prot: GYS1_HUMAN, P13807
  • Defects in GYS1 are the cause of muscle glycogen storage disease type 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

    20/27 diseases for GYS1 (see all 27):    About MalaCards
    glycogen storage disease    glycogen storage disease type 0    glucose intolerance    myoclonus epilepsy
    progressive myoclonus epilepsy    type 2 diabetes mellitus    myoclonus    diabetes mellitus
    polycystic ovary syndrome    insulin resistance    pancreatic ductal adenocarcinoma    hypoglycemia
    essential hypertension    metabolic disorders    hyperglycemia    hypertension
    twinning    myopathy    cardiomyopathy    nephropathy

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

    8 Novoseek 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

    Publications
    for GYS1 gene

    (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)
    About This Section

    PubMed articles for GYS1 gene, integrated from 9 sources (see all 143):
    (articles sorted by number of sources associating them with GYS1)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. 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. (2002)
    2. Association of muscle glycogen synthase polymorphism with insulin resistance in type 2 diabetic patients. (PubMed id 12870167)1, 4, 9 Motoyama K....Nishizawa Y. (2003)
    3. 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. (2001)
    4. Cardiomyopathy and exercise intolerance in muscle glycogen storage disease 0. (PubMed id 17928598)1, 2 Kollberg G.... Holme E. (2007)
    5. Interaction between glycogenin and glycogen synthase. (PubMed id 17055998)1, 2 Skurat A.V....Roach P.J. (2006)
    6. Control of mammalian glycogen synthase by PAS kinase. (PubMed id 16275910)1, 2 Wilson W.A....Rutter J. (2005)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    8. A study to survey susceptible genetic factors responsible for troglitazone-associated hepatotoxicity in Japanese patients with type 2 diabetes mellitus. (PubMed id 12732844)1, 4 Watanabe I....Koga T. (2003)
    9. The Met416-->Val variant in the glycogen synthase gene: the prevalence and the association with diabetes in a large number of Japanese individuals. Study Group for the Identification of Type 2 Diabetes Genes in Japanese. (PubMed id 11092303)1, 4 (2000)
    10. Cloning and characterization of a glycogen synthase cDNA from human endometrium. (PubMed id 9010351)1, 2 Su X.... Shapiro S.S. (1996)

    External Searches for GYS1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing GYS1 gene

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

    Other Databases showing GYS1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing GYS1 gene

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

    Intellectual Property
    for GYS1 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		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



    Products
    for GYS1 gene

    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory)
    About This Section

     Browse Small Molecules at EMD Millipore
     Browse Kits and Assays available from EMD Millipore
     EMD Millipore Mono- and Polyclonal Antibodies for the study of GYS1
     Browse for Gene Knock-down Tools from EMD Millipore
     Browse Purified and Recombinant Proteins at EMD Millipore
     Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
     
     EMD Millipore Custom Antibody & Bulk Services
     EMD Millipore Preclinical / Clinical Development Services
     EMD Millipore Immunoassay Services
     EMD Millipore Target Screening & Profiling Services

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Kinase Activity Assays/Reagents  
     Browse ELISpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Multiplex/Array Assay Kits/Reagents  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Phosphatase Activity Assays/Reagents   Browse Recombinant/Natural Proteins  
     OriGene Antibodies for GYS1   OriGene shRNA RFP for GYS1  
     OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for GYS1   OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for GYS1  
     OriGene Protein Over-expression Lysate for GYS1   Browse OriGene Fluorogenic Cell Assay Kits  
     OriGene siRNA for GYS1   OriGene 3'-UTR Clone for GYS1  
     OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for GYS1   OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for GYS1  
     Browse OriGene GFP tagged cDNA clones in CMV expression vector   Browse OriGene MicroRNA Expression Plasmids  
     Browse OriGene basic RS shRNAs   Browse OriGene validated miRNA SYBR primer pairs  
     OriGene Purified Protein for GYS1   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for GYS1   OriGene Custom Protein Services for GYS1  
     OriGene Custom Immunoassay Development  

         		 
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat GYS1
     QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing GYS1
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat GYS1
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat GYS1
     QIAGEN QuantiFast Probe-based Assays in human, mouse, rat GYS1
     QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat GYS1
     GenScript Custom Purified and Recombinant Proteins Services for GYS1 GenScript cDNA clones with any tag delivered in your preferred vector for GYS1
     GenScript Custom Assay Services for GYS1 GenScript Custom Superior Antibodies Services for GYS1
     GenScript Custom overexpressing Cell Line Services for GYS1 CloneReady with Over 120,000 Genes
     Gene Synthesis: Any Gene in Any Vector Vector-based siRNA and miRNA, Ready for Transfection
     Gene Mutant Library, Variants up to 10^11 Plasmid Preparation
     Custom Peptide Services
     Antibodies & Assays for GYS1 

     Regulatory tfbs in GYS1 promoter
     Search Chromatin IP Primers for GYS1
     RT2 qPCR Primer Assay in human, mouse, rat GYS1
     GNC Network for GYS1
     SABiosciences PCR Arrays including human, mouse, rat GYS1
     Search Tocris compounds for GYS1
     Browse Sino Biological Proteins and Antibodies
     Browse Sino Biological cDNA Clones
     Antibodies/Proteins Production Services
     Rabbit Monoclonal Antibody Platform
     Bulk Purchasing
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
     Novus Tissue Slides
     GYS1 antibodies
     GYS1 proteins
     GYS1 lysates
     Antibodies for GYS1
     See all of Abcam's Antibodies, Kits and Proteins for GYS1
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins




     GYS1 Proteins, Antibodies, CLIAs, and ELISAs
     Search LifeMap BioReagents cell lines for GYS1
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GYS1
     SwitchGear 3'UTR luciferase reporter plasmids for GYS1
     SwitchGear Promoter luciferase reporter plasmids for GYS1
     ThermoFisher Antibody for GYS1
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GYS1
     inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for GYS1
    Sirion Biotech Customized:
     stable knockdown cell line services for GYS1
     inducible knockdown cell line services for GYS1
     design and validation of potent shRNA sequences against GYS1
     adenovirus for potent knockdown of GYS1
     adenovirus for overexpression of GYS1
     stable overexpressing cell line services for GYS1
     inducible overexpressing cell line services for GYS1
           
    GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013 , 14 May 2013

    View Random Gene

    Category
    VWF
    (GIFTS: 73)
    von Willebrand factor
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 

    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Copyright © 1996-2013 , Weizmann Institute of Science. All Rights Reserved.
    Hot genes      Disease genes      GYS1 gene at Home site.
    hostname: 356977-web1.xennexinc.com index build: 106 solr: 1.4