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GYS1 glycogen synthase 1 [ Homo sapiens (human) ]

Gene ID: 2997, updated on 8-Jul-2018
Official Symbol
GYS1provided by HGNC
Official Full Name
glycogen synthase 1provided by HGNC
Primary source
HGNC:HGNC:4706
See related
Ensembl:ENSG00000104812 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]
Expression
Ubiquitous expression in heart (RPKM 40.6), fat (RPKM 17.3) and 23 other tissues See more
Orthologs
See GYS1 in Genome Data Viewer
Location:
19q13.33
Exon count:
16
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 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, apoptosis regulator Neighboring gene ferritin light chain Neighboring gene skeletal muscle cis-regulatory module in GYS1 intron Neighboring gene RuvB like AAA ATPase 2 Neighboring gene microRNA 6798 Neighboring gene luteinizing hormone beta polypeptide

  • 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 Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Glycogen storage disease 0, muscle
MedGen: C1969054 OMIM: 611556 GeneReviews: Not available
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NHGRI GWAS Catalog

Description
Genome-wide association study of sex hormones, gonadotropins and sex hormone-binding protein in Chinese men.
NHGRI GWA Catalog
  • AMP-activated Protein Kinase (AMPK) Signaling, organism-specific biosystem (from WikiPathways)
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  • AMPK signaling pathway, organism-specific biosystem (from KEGG)
    AMPK signaling pathway, organism-specific biosystemAMP-activated protein kinase (AMPK) is a serine threonine kinase that is highly conserved through evolution. AMPK system acts as a sensor of cellular energy status. It is activated by increases in th...
  • AMPK signaling pathway, conserved biosystem (from KEGG)
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  • Diseases of metabolism, organism-specific biosystem (from REACTOME)
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  • Glucagon signaling pathway, organism-specific biosystem (from KEGG)
    Glucagon signaling pathway, organism-specific biosystemGlucagon is conventionally regarded as a counterregulatory hormone for insulin and plays a critical anti-hypoglycemic role by maintaining glucose homeostasis in both animals and humans. To increase ...
  • Glucagon signaling pathway, conserved biosystem (from KEGG)
    Glucagon signaling pathway, conserved biosystemGlucagon is conventionally regarded as a counterregulatory hormone for insulin and plays a critical anti-hypoglycemic role by maintaining glucose homeostasis in both animals and humans. To increase ...
  • Glucose metabolism, organism-specific biosystem (from REACTOME)
    Glucose metabolism, organism-specific biosystemGlucose is the major form in which dietary sugars are made available to cells of the human body. Its breakdown is a major source of energy for all cells, and is essential for the brain and red blood ...
  • Glycogen Metabolism, organism-specific biosystem (from WikiPathways)
    Glycogen Metabolism, organism-specific biosystemGlycogen is a very large, branched polymer of glucose residues. Within skeletal muscle and liver glucose is stored as glycogen. In the liver, glycogen synthesis and degradation are regulated to maint...
  • Glycogen storage disease type 0 (muscle GYS1), organism-specific biosystem (from REACTOME)
    Glycogen storage disease type 0 (muscle GYS1), organism-specific biosystemGlycogen synthase 1 (GYS1 "muscle") is widely expressed in the body. It normally catalyzes the addition of glucose residues to a growing glycogen molecule. In its absence, glycogen synthesis fails. T...
  • Glycogen storage disease type IV (GBE1), organism-specific biosystem (from REACTOME)
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  • Glycogen storage disease type XV (GYG1), organism-specific biosystem (from REACTOME)
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  • Glycogen storage diseases, organism-specific biosystem (from REACTOME)
    Glycogen storage diseases, organism-specific biosystemThe regulated turnover of glycogen plays a central, tissue-specific role in the maintenance of blood glucose levels and in the provision of glucose to tissues such as muscle and brain in response to ...
  • Glycogen synthesis, organism-specific biosystem (from REACTOME)
    Glycogen synthesis, organism-specific biosystemGlycogen, a highly branched glucose polymer, is formed and broken down in most human tissues, but is most abundant in liver and muscle, where it serves as a major stored fuel. Glycogen metabolism has...
  • Insulin Signaling, organism-specific biosystem (from WikiPathways)
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  • Insulin resistance, organism-specific biosystem (from KEGG)
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  • Insulin signaling pathway, organism-specific biosystem (from KEGG)
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  • Insulin signaling pathway, conserved biosystem (from KEGG)
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  • Insulin-mediated glucose transport, organism-specific biosystem (from Pathway Interaction Database)
    Insulin-mediated glucose transport, organism-specific biosystem
    Insulin-mediated glucose transport
  • Metabolic pathways, organism-specific biosystem (from KEGG)
    Metabolic pathways, organism-specific biosystem
    Metabolic pathways
  • Metabolism, organism-specific biosystem (from REACTOME)
    Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • Metabolism of carbohydrates, organism-specific biosystem (from REACTOME)
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  • PI3K-Akt signaling pathway, conserved biosystem (from KEGG)
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  • Starch and sucrose metabolism, organism-specific biosystem (from KEGG)
    Starch and sucrose metabolism, organism-specific biosystem
    Starch and sucrose metabolism
  • Starch and sucrose metabolism, conserved biosystem (from KEGG)
    Starch and sucrose metabolism, conserved biosystem
    Starch and sucrose metabolism
  • glycogen biosynthesis, organism-specific biosystem (from BIOCYC)
    glycogen biosynthesis, organism-specific biosystemGeneral Background : Glycogens "Glycogen" is a megadalton-sized glucose polymer and a major reservoir of readily available energy and carbon compounds in humans. The linkages between the glucose un...
  • glycogen biosynthesis II (from UDP-D-Glucose), conserved biosystem (from BIOCYC)
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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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
glucose binding IEA
Inferred from Electronic Annotation
more info
 
glycogen (starch) synthase activity EXP
Inferred from Experiment
more info
PubMed 
glycogen (starch) synthase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
glycogen synthase activity, transferring glucose-1-phosphate IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein kinase binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein kinase binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
glycogen biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
 
response to glucose IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
response to sucrose IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
inclusion body IEA
Inferred from Electronic Annotation
more info
 
membrane HDA 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
    ENSP00000263276.6, OTTHUMP00000198373, ENST00000263276.6, OTTHUMT00000319796
    Conserved Domains (1) summary
    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
    ENSP00000317904.3, OTTHUMP00000198371, ENST00000323798.7, OTTHUMT00000319791
    Conserved Domains (1) summary
    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 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p12 Primary Assembly

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