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GYS1 glycogen synthase 1 [ Homo sapiens (human) ]

Gene ID: 2997, updated on 7-Jun-2020

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
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

Genomic context

See GYS1 in Genome Data Viewer
Location:
19q13.33
Exon count:
16
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (48968130..48993309, 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 Sharpr-MPRA regulatory region 1809 Neighboring gene skeletal muscle cis-regulatory module in GYS1 intron Neighboring gene RuvB like AAA ATPase 2 Neighboring gene Sharpr-MPRA regulatory region 732 Neighboring gene microRNA 6798

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 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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
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 
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
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
 
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 

General protein information

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

NCBI Reference Sequences (RefSeq)

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/Swiss-Prot
    P13807
    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
    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: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

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