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    GYS1 glycogen synthase 1 [ Homo sapiens (human) ]

    Gene ID: 2997, updated on 27-Nov-2024

    Summary

    Official Symbol
    GYS1provided by HGNC
    Official Full Name
    glycogen synthase 1provided by HGNC
    Primary source
    HGNC:HGNC:4706
    See related
    Ensembl:ENSG00000104812 MIM:138570; AllianceGenome:HGNC:4706
    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]
    Expression
    Ubiquitous expression in heart (RPKM 40.6), fat (RPKM 17.3) and 23 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See GYS1 in Genome Data Viewer
    Location:
    19q13.33
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (48968130..48993309, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (51963010..51988208, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (49471387..49496566, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:49457811-49458379 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:49458380-49458947 Neighboring gene CRISPRi-FlowFISH-validated FTL regulatory element 2 Neighboring gene BCL2 associated X, apoptosis regulator Neighboring gene CRISPRi-FlowFISH-validated FTL regulatory element 3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10909 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14919 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14920 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:49473581-49474108 Neighboring gene CRISPRi-FlowFISH-validated FTL regulatory element 4 Neighboring gene ferritin light chain Neighboring gene Sharpr-MPRA regulatory region 1809 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14921 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:49491709-49491891 Neighboring gene skeletal muscle cis-regulatory module in GYS1 intron Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14922 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10910 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14923 Neighboring gene RuvB like AAA ATPase 2 Neighboring gene Sharpr-MPRA regulatory region 732 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:49507585-49508084 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:49512697-49513198 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:49515021-49515195 Neighboring gene microRNA 6798 Neighboring gene Sharpr-MPRA regulatory region 164 Neighboring gene luteinizing hormone subunit beta Neighboring gene stabilizer of axonemal microtubules 3

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Glycogen storage disease due to muscle and heart glycogen synthase deficiency
    MedGen: C1969054 OMIM: 611556 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    Genome-wide association study of sex hormones, gonadotropins and sex hormone-binding protein in Chinese men.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in glycogen biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in glycogen biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in glycogen biosynthetic process TAS
    Traceable Author Statement
    more info
     
    involved_in heart development IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in inclusion body IEA
    Inferred from Electronic Annotation
    more info
     
    located_in membrane HDA PubMed 

    General protein information

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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      5045..30224
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001161587.2NP_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)
      BC003182, BP313940
      Consensus CDS
      CCDS54292.1
      UniProtKB/TrEMBL
      A8K6K7, Q53ER0
      Related
      ENSP00000263276.6, ENST00000263276.6
      Conserved Domains (1) summary
      pfam05693
      Location:31599
      Glycogen_syn; Glycogen synthase
    2. NM_002103.5NP_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, Q9BTT9
      UniProtKB/TrEMBL
      A8K6K7, Q53ER0
      Related
      ENSP00000317904.3, ENST00000323798.8
      Conserved Domains (1) summary
      pfam05693
      Location:31663
      Glycogen_syn; Glycogen synthase

    RNA

    1. NR_027763.2 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: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      48968130..48993309 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      51963010..51988208 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)