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GYS1 glycogen synthase 1 (muscle) [ Homo sapiens (human) ]

Gene ID: 2997, updated on 7-Dec-2014
Official Symbol
GYS1provided by HGNC
Official Full Name
glycogen synthase 1 (muscle)provided 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]
See GYS1 in Epigenomics, MapViewer
Location:
19q13.3
Exon count:
16
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 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
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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
  • AMPK signaling, organism-specific biosystem (from WikiPathways)
    AMPK signaling, organism-specific biosystemAMPK signaling pathway, a fuel sensor and regulator, promotes ATP-producing and inhibits ATP-consuming pathways in various tissues. AMPK is a heterotrimer composed of alpha-catalytic and beta and gam...
  • 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)
    AMPK signaling pathway, conserved 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...
  • Disease, organism-specific biosystem (from REACTOME)
    Disease, organism-specific biosystemBiological processes are captured in Reactome by identifying the molecules (DNA, RNA, protein, small molecules) involved in them and describing the details of their interactions. From this molecular ...
  • 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 musle and liver glucose is stored as glycogen. In the liver, glycogen synthesis and degradation are regulated to mainta...
  • 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)
    Insulin Signaling, organism-specific biosystemInsulin signaling influences energy metabolism as well as growth. The presence of insulin signals the fed state, and this signal is passed via the AKT branch, which leads to the uptake of glucose fro...
  • Insulin signaling pathway, organism-specific biosystem (from KEGG)
    Insulin signaling pathway, organism-specific biosystemInsulin binding to its receptor results in the tyrosine phosphorylation of insulin receptor substrates (IRS) by the insulin receptor tyrosine kinase (INSR). This allows association of IRSs with the r...
  • Insulin signaling pathway, conserved biosystem (from KEGG)
    Insulin signaling pathway, conserved biosystemInsulin binding to its receptor results in the tyrosine phosphorylation of insulin receptor substrates (IRS) by the insulin receptor tyrosine kinase (INSR). This allows association of IRSs with the r...
  • Insulin-mediated glucose transport, organism-specific biosystem (from Pathway Interaction Database)
    Insulin-mediated glucose transport, organism-specific biosystem
    Insulin-mediated glucose transport
  • 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)
    Metabolism of carbohydrates, organism-specific biosystemThese pathways together are responsible for: 1) the extraction of energy and carbon skeletons for biosyntheses from dietary sugars and related molecules; 2) the short-term storage of glucose in the b...
  • Myoclonic epilepsy of Lafora, organism-specific biosystem (from REACTOME)
    Myoclonic epilepsy of Lafora, organism-specific biosystemLafora disease is a progressive neurodegenerative disorder with onset typically late in childhood, characterized by seizures and progressive neurological deterioration and death within ten years of o...
  • PI3K-Akt signaling pathway, organism-specific biosystem (from KEGG)
    PI3K-Akt signaling pathway, organism-specific biosystemThe phosphatidylinositol 3' -kinase(PI3K)-Akt signaling pathway is activated by many types of cellular stimuli or toxic insults and regulates fundamental cellular functions such as transcription, tra...
  • PI3K-Akt signaling pathway, conserved biosystem (from KEGG)
    PI3K-Akt signaling pathway, conserved biosystemThe phosphatidylinositol 3' -kinase(PI3K)-Akt signaling pathway is activated by many types of cellular stimuli or toxic insults and regulates fundamental cellular functions such as transcription, tra...
  • 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 II (from UDP-D-Glucose), organism-specific biosystem (from BIOCYC)
    glycogen biosynthesis II (from UDP-D-Glucose), organism-specific biosystemGeneral Background : 6-alpha-D--1-4-alpha-D-Glucano--Glucan is a megadalton-sized glucose polymer and a major reservoir of readily available energy and carbon compounds in humans. The linkages betw...
  • glycogen biosynthesis II (from UDP-D-Glucose), conserved biosystem (from BIOCYC)
    glycogen biosynthesis II (from UDP-D-Glucose), conserved biosystemGeneral Background |FRAME: Glycogens Glycogen| and |FRAME: Starch|, megadalton-sized glucose polymers, are the major reservoir of readily available energy and carbon compounds in most living organis...
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
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
 
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 [starch] synthase, 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 

    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 proteins identical to 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 proteins identical to 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 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000019.10 

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

Alternate CHM1_1.1

Genomic

  1. NC_018930.2 

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

Alternate HuRef

Genomic

  1. AC_000151.1 

    Range
    45848297..45873316
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)