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    GYS1 glycogen synthase 1 [ Homo sapiens (human) ]

    Gene ID: 2997, updated on 3-Jan-2016
    Official Symbol
    GYS1provided by HGNC
    Official Full Name
    glycogen synthase 1provided by HGNC
    Primary source
    HGNC: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]
    Orthologs
    See GYS1 in Epigenomics, MapViewer
    Location:
    19q13.3
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) 19 NC_000019.10 (48968125..48993353, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (49471382..49496610, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene BCL2-associated X protein Neighboring gene ferritin, light polypeptide Neighboring gene RuvB-like AAA ATPase 2 Neighboring gene microRNA 6798 Neighboring gene luteinizing hormone beta polypeptide

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Glycogen storage disease 0, muscle
    MedGen: C1969054 OMIM: 611556 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    Genome-wide association study of sex hormones, gonadotropins and sex hormone-binding protein in Chinese men.
    NHGRI GWA Catalog
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    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    glucose binding IEA
    Inferred from Electronic Annotation
    more info
     
    glycogen (starch) synthase activity EXP
    Inferred from Experiment
    more info
     
    glycogen (starch) synthase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    glycogen synthase activity, transferring glucose-1-phosphate EXP
    Inferred from Experiment
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein kinase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    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
    cytosol TAS
    Traceable Author Statement
    more info
     
    inclusion body IEA
    Inferred from Electronic Annotation
    more info
     
    membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    glycogen [starch] synthase, muscle
    Names
    glycogen synthase 1 (muscle)
    NP_001155059.1
    NP_002094.2

    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_001161587.1NP_001155059.1  glycogen [starch] synthase, muscle isoform 2

      See identical proteins and their annotated locations for NP_001155059.1

      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 (2) summary
      cd03793
      Location:26551
      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:31599
      Glycogen_syn; Glycogen synthase
    2. NM_002103.4NP_002094.2  glycogen [starch] synthase, muscle isoform 1

      See identical proteins and their annotated locations for NP_002094.2

      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:26615
      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:31663
      Glycogen_syn; Glycogen synthase

    RNA

    1. NR_027763.1 RNA Sequence

      Status: REVIEWED

      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: Homo sapiens Annotation Release 107

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

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p2 Primary Assembly

      Range
      48968125..48993353 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018930.2 Alternate CHM1_1.1

      Range
      49473588..49498839 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)