Gys1 glycogen synthase 1, muscle [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Gys1provided by MGI
Official Full Name: glycogen synthase 1, muscleprovided by MGI
Primary source: MGI:MGI:101805
See related: Ensembl:ENSMUSG00000003865 AllianceGenome:MGI:101805
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: MGS; Gys3
Summary: Enables alpha-1,4-glucan glucosyltransferase (UDP-glucose donor) activity and glycogen synthase activity, transferring glucose-1-phosphate. Involved in glycogen biosynthetic process. Acts upstream of or within heart development. Located in cytoplasm and inclusion body. Is active in cytosol. Is expressed in several structures, including alimentary system; brain; genitourinary system; respiratory system; and sensory organ. Human ortholog(s) of this gene implicated in cardiovascular system disease. Orthologous to human GYS1 (glycogen synthase 1). [provided by Alliance of Genome Resources, Oct 2024]
Expression: Broad expression in mammary gland adult (RPKM 63.2), heart adult (RPKM 38.0) and 24 other tissues See more
Orthologs: human all
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Genomic context

Location:: 7 B3; 7 29.31 cM

Exon count:: 16

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	7	NC_000073.7 (45084263..45106041)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	7	NC_000073.6 (45434839..45456617)

Chromosome 7 - NC_000073.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

GYS1 or PPP1R3C deficiency rescues murine adult polyglucosan body disease.
Title: GYS1 or PPP1R3C deficiency rescues murine adult polyglucosan body disease.
An inducible glycogen synthase-1 knockout halts but does not reverse Lafora disease progression in mice.
Title: An inducible glycogen synthase-1 knockout halts but does not reverse Lafora disease progression in mice.
These results demonstrate that pharmacological agents that activate GYS1, the main GS subtype found in skeletal muscle, have potential for use as novel treatments for diabetes that improve glucose metabolism in skeletal muscle.
Title: AJS1669, a novel small-molecule muscle glycogen synthase activator, improves glucose metabolism and reduces body fat mass in mice.
We show that the absence of Epm2aip1 in mice impairs allosteric activation of GS by glucose 6-phosphate, decreases hepatic glycogen synthesis, increases liver fat, causes hepatic insulin resistance, and protects against age-related obesity
Title: Deficiency of a glycogen synthase-associated protein, Epm2aip1, causes decreased glycogen synthesis and hepatic insulin resistance.
Muscle glycogen synthase isoform is responsible for testicular glycogen synthesis: glycogen overproduction induces apoptosis in male germ cells.
Title: Muscle glycogen synthase isoform is responsible for testicular glycogen synthesis: glycogen overproduction induces apoptosis in male germ cells.
Long-term potentiation (LTP) evoked in the hippocampal CA3-CA1 synapse was also decreased in behaving GYS1(Nestin-KO) mice.
Title: Impairment in long-term memory formation and learning-dependent synaptic plasticity in mice lacking glycogen synthase in the brain.
Neurodegeneration and functional impairments are associated with glycogen synthase accumulation in the mouse model of Lafora disease.
Title: Neurodegeneration and functional impairments associated with glycogen synthase accumulation in a mouse model of Lafora disease.
GYS1 regulation by HIF plays a central role in the hypoxic accumulation of glycogen, and hypoxia also upregulates the expression of UTP:glucose-1-phosphate urydylyltransferase (UGP2) and 1,4-alpha glucan branching enzyme (GBE1)
Title: Hypoxia promotes glycogen accumulation through hypoxia inducible factor (HIF)-mediated induction of glycogen synthase 1.
The endogenous glycogen synthase in extracts from mouse brain bound specifically to SAPK2b/p38b & was phosphorylated at residues Ser644, Ser652, Thr718 and Ser724.
Title: Identification of glycogen synthase as a new substrate for stress-activated protein kinase 2b/p38beta.
Overexpression of glycogen synthase in skeletal muscle results in less branched glycogen.
Title: Overexpression of glycogen synthase in mouse muscle results in less branched glycogen.

Submit: New GeneRIF Correction See all GeneRIFs (12)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (3)
Gene trapped (1) 1 citation
Targeted (4) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

X94616 (e-PCR)
- UniSTS:163418

PMC86435P3 (e-PCR)
- UniSTS:273525

X94616 (e-PCR)
- UniSTS:125894

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables D-glucose binding	IEA Inferred from Electronic Annotation more info
enables D-glucose binding	ISO Inferred from Sequence Orthology more info
enables alpha-1,4-glucan glucosyltransferase (UDP-glucose donor) activity	IBA Inferred from Biological aspect of Ancestor more info
enables alpha-1,4-glucan glucosyltransferase (UDP-glucose donor) activity	IDA Inferred from Direct Assay more info	PubMed
enables alpha-1,4-glucan glucosyltransferase (UDP-glucose donor) activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables alpha-1,4-glucan glucosyltransferase (UDP-glucose donor) activity	ISO Inferred from Sequence Orthology more info
enables glycogen synthase activity, transferring glucose-1-phosphate	IDA Inferred from Direct Assay more info	PubMed
enables glycogen synthase activity, transferring glucose-1-phosphate	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in glycogen biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in glycogen biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in glycogen biosynthetic process	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within glycogen biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in glycogen biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in glycogen biosynthetic process	ISO Inferred from Sequence Orthology more info
involved_in glycogen metabolic process	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within heart development	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in inclusion body	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: glycogen [starch] synthase, muscle

Names: glycogen synthase 3, brain

NP_109603.2

EC 2.4.1.11

NCBI Reference Sequences (RefSeq)

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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.