GYS1 glycogen synthase 1 [Homo sapiens (human)] - Gene

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: mouse all
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Genomic context

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_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The structural mechanism of human glycogen synthesis by the GYS1-GYG1 complex.
Title: The structural mechanism of human glycogen synthesis by the GYS1-GYG1 complex.
Pulmonary glycogen deficiency as a new potential cause of respiratory distress syndrome.
Title: Pulmonary glycogen deficiency as a new potential cause of respiratory distress syndrome.
Insulin-stimulated glycogen synthase (GS) activity was completely ablated during hyperinsulinemic hypoglycemia, and catecholamine signaling via cAMP-dependent protein kinase (PKA) and phosphorylation of inhibiting sites on GS all increased.
Title: Acute Hypoglycemia in Healthy Humans Impairs Insulin-Stimulated Glucose Uptake and Glycogen Synthase in Skeletal Muscle: A Randomized Clinical Study.
Overexpression of GYS1, MIF, and MYC is associated with adverse outcome and poor response to azacitidine in myelodysplastic syndromes and acute myeloid leukemia
Title: Overexpression of GYS1, MIF, and MYC is associated with adverse outcome and poor response to azacitidine in myelodysplastic syndromes and acute myeloid leukemia.
over-expression of muscle glycogen synthase (MGS)was detected in diabetic human kidney
Title: Over-expression of muscle glycogen synthase in human diabetic nephropathy.
High glycogen synthase 1 expression is associated with myeloid leukemia.
Title: Pathological glycogenesis through glycogen synthase 1 and suppression of excessive AMP kinase activity in myeloid leukemia cells.
Data suggest that although COOH-terminal dephosphorylation is likely necessary for GS activation, protein kinase Akt-2- (Akt2)-dependent NH2-terminal dephosphorylation is site for "fine-tuning" insulin-mediated GS activation in skeletal muscle.
Title: Akt2 influences glycogen synthase activity in human skeletal muscle through regulation of NH₂-terminal (sites 2 + 2a) phosphorylation.
Allosteric regulation and the relationship between phosphorylation and the kinetics of glycogen synthase. [Review]
Title: Regulation of glycogen synthase from mammalian skeletal muscle--a unifying view of allosteric and covalent regulation.
The present findings demonstrate that physical inactivity-induced insulin resistance in muscle is associated with lower content/activity of key proteins in glucose transport/phosphorylation and storage.
Title: GLUT4 and glycogen synthase are key players in bed rest-induced insulin resistance.
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.

Submit: New GeneRIF Correction See all GeneRIFs (25)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

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 EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D19S987 (e-PCR)
- UniSTS:36931

GYS1 (e-PCR)
- UniSTS:504436

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables D-glucose binding	IEA Inferred from Electronic Annotation more info
enables alpha-1,4-glucan glucosyltransferase (UDP-glucose donor) activity	EXP Inferred from Experiment more info	PubMed
enables alpha-1,4-glucan glucosyltransferase (UDP-glucose donor) activity	IBA Inferred from Biological aspect of Ancestor more info
enables glycogen synthase activity, transferring glucose-1-phosphate	EXP Inferred from Experiment more info	PubMed
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	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 more info	PubMed

General protein information

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Preferred Names: glycogen [starch] synthase, muscle

Names: glycogen synthase 1 (muscle)

NP_001155059.1

EC 2.4.1.11

NP_002094.2

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.

Genomic

NG_012923.1 RefSeqGene

Range

5045..30224

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001161587.2 → NP_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:31 → 599

Glycogen_syn; Glycogen synthase
NM_002103.5 → NP_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:31 → 663

Glycogen_syn; Glycogen synthase

RNA

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