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GYS1 Gene

protein-coding GIFtS: 71
GCID: GC19M049471

Glycogen Synthase 1 (Muscle)

(Previous symbol: GYS)

See related diseases
at

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(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
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Aliases
Glycogen Synthase 1 (Muscle)¹ ²
GYS¹ ² ³ ⁵
EC 2.4.1.11³ ⁸
GSY²
Glycogen [Starch] Synthase, Muscle²

External Ids:	HGNC: 4706¹	Entrez Gene: 2997²	Ensembl: ENSG00000104812⁷	OMIM: 138570⁵	UniProtKB: P13807³

Export aliases for GYS1 gene to outside databases

Previous GC identifers: GC19M050129 GC19M049839 GC19M054147 GC19M054164 GC19M054165 GC19M054166 GC19M045849

(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for GYS1 Gene:

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)

GeneCards Summary for GYS1 Gene:

GYS1 (glycogen synthase 1 (muscle)) is a protein-coding gene. Diseases associated with GYS1 include glycogen storage disease type 0, muscle, and glycogen storage disease type 0. GO annotations related to this gene include protein kinase binding and glycogen (starch) synthase activity. An important paralog of this gene is GYS2.

UniProtKB/Swiss-Prot: GYS1_HUMAN, P13807

Function: Transfers the glycosyl residue from UDP-Glc to the non-reducing end of alpha-1,4-glucan

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:

NC_000019.10 NC_018930.2 NT_011109.17

Regulatory elements:

Regulatory transcription factor binding sites in the GYS1 gene promoter:
STAT1 RFX1 Pax-5 GCNF ATF-2 E47 CRE-BP1 GCNF-1 ARP-1 GCNF-2
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: GYS1 promoter sequence

Search Chromatin IP Primers for GYS1

Epigenetics:

DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat GYS1

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 19q13.3 Ensembl cytogenetic band: 19q13.33 HGNC cytogenetic band: 19q13.3

GYS1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GYS1 gene location

GeneLoc information about chromosome 19 GeneLoc Exon Structure

GeneLoc location for GC19M049471: view genomic region (about GC identifiers)

Start:	49,471,382 bp from pter	End:	49,496,610 bp from pter
Size:	25,229 bases	Orientation:	minus strand

ORGUL member locations:
Legend (see complete legend)

ORGUL Member Locations for GYS1

(According to ¹UniProtKB, HORDE, ²neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: GYS1_HUMAN, P13807 (See protein sequence)

Recommended Name: Glycogen [starch] synthase, muscle

Size: 737 amino acids; 83786 Da

Subunit: Interacts with GYG1

Secondary accessions: Q9BTT9

Alternative splicing: 2 isoforms: P13807-1 P13807-2 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for GYS1: NX_P13807

Explore proteomics data for GYS1 at MOPED

Post-translational modifications:

Phosphorylation at Ser-8 by AMPK inactivates the enzyme activity. Primed phosphorylation at Ser-657 (site 5) by

CSNK2A1 and CSNK2A2 is required for inhibitory phosphorylation at Ser-641 (site 3a), Ser-645 (site 3b), Ser-649

(site 3c) and Ser-653 (site 4) by GSK3A an GSK3B (By similarity). Phosphorylated at Ser-641 by DYRK2, leading to

inactivation (By similarity). Phosphorylated at Ser-641 by PASK, leading to inactivation; phosphorylation by PASK

is inhibited by glycogen. Dephosphorylation at Ser-641 and Ser-645 by PP1 activates the enzyme¹

Ubiquitination² at Lys88, Lys381, Lys474, Lys599

Modification sites at PhosphoSitePlus

Selected DME Specific Peptides for GYS1 (P13807) (see all 25)

IFHPEFL

VDFYNNL

FPSYYEP

SVPPSPS

See GYS1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins (2 alternative transcripts):

NP_001155059.1 NP_002094.2

ENSEMBL proteins:

ENSP00000317904 ENSP00000263276 ENSP00000470072 ENSP00000437922 ENSP00000444004

ENSP00000445197

Reactome Protein details: P13807

GYS1 Human Recombinant Protein Products:

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	Novus Biologicals GYS1 Proteins Novus Biologicals GYS1 Lysate
	Browse Sino Biological Recombinant Proteins Browse Sino Biological Cell Lysates
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	Cloud-Clone Corp. Proteins for GYS1

GYS1 Antibody Products:

	EMD Millipore Mono- and Polyclonal Antibodies for the study of GYS1
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	OriGene Antibodies for GYS1 OriGene Custom Antibody Services for GYS1
	Novus Biologicals GYS1 Antibodies
	Abcam antibodies for GYS1
	Cloud-Clone Corp. Antibodies for GYS1
	ThermoFisher Antibody for GYS1
	LSBio Antibodies in human, mouse, rat for GYS1

GYS1 Assay Products:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Assay Services for GYS1
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for GYS1
	Browse Enzo Life Sciences for kits & assays
	Cloud-Clone Corp. ELISAs for GYS1 Cloud-Clone Corp. CLIAs for GYS1

(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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HGNC Gene Families:

GLT1: Glycosyltransferase group 1 domain containing

1 InterPro protein domain:

IPR008631 Glycogen_synth

Graphical View of Domain Structure for InterPro Entry P13807

ProtoNet protein and cluster: P13807

1 Blocks protein domain: IPB008631 Glycogen synthase

UniProtKB/Swiss-Prot: GYS1_HUMAN, P13807

Similarity: Belongs to the glycosyltransferase 3 family

GYS1 for domains About GeneDecksing

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

UniProtKB/Swiss-Prot Summary: GYS1_HUMAN, P13807

Function: Transfers the glycosyl residue from UDP-Glc to the non-reducing end of alpha-1,4-glucan

Catalytic activity: UDP-glucose ((1->4)-alpha-D-glucosyl)(n) = UDP + ((1->4)-alpha-D-glucosyl)(n+1)

Enzyme regulation: Allosteric activation by glucose-6-phosphate. Phosphorylation reduces the activity towards

UDP-glucose. When in the non-phosphorylated state, glycogen synthase does not require glucose-6-phosphate as an

allosteric activator; when phosphorylated it does (By similarity)

Genatlas biochemistry entry for GYS1:

glycogen synthase,skeletal muscle,the rate limiting enzyme of the insulin-induced glycogenesis

Enzyme Number (IUBMB): EC 2.4.1.11¹ ²

Gene Ontology (GO): 5 molecular function terms: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004373	glycogen (starch) synthase activity	IDA	16275910
GO:0005515	protein binding	IPI	16189514
GO:0005536	glucose binding	IEA	--
GO:0019901	protein kinase binding	IPI	16275910
GO:0061547	glycogen synthase activity, transferring glucose-1-phosphate	EXP	--

GYS1 for ontologies About GeneDecksing

Phenotypes:
1 GenomeRNAi human phenotype for GYS1:

Decreased POU5F1-GFP protein e

8 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Gys1):

cardiovascular system	cellular	growth/size/body	homeostasis/metabolism	liver/biliary system
mortality/aging	muscle	respiratory system

GYS1 for phenotypes About GeneDecksing

Animal Models:

inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for GYS1

inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for GYS1

genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for GYS1

genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for GYS1

miRNA Products:		miRTarBase miRNAs that target GYS1: hsa-mir-26b-5p (MIRT028992), hsa-mir-122-5p (MIRT003080), hsa-let-7b-5p (MIRT001626)

		Block miRNA regulation of human, mouse, rat GYS1 using miScript Target Protectors
		Selected qRT-PCR Assays for microRNAs that regulate GYS1 (see all 16):
		hsa-miR-3130-5p hsa-miR-140-5p hsa-miR-203 hsa-miR-516b hsa-miR-122 hsa-miR-4290 hsa-miR-548s hsa-miR-3171

		SwitchGear 3'UTR luciferase reporter plasmid: GYS1 3' UTR sequence

Inhib. RNA Products:		OriGene RNAi products in human, mouse, rat for GYS1
		Predesigned siRNA for gene silencing in human, mouse, rat GYS1

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for GYS1

Clone Products:		OriGene clones in human, mouse for GYS1 (see all 12) OriGene ORF clones in mouse, rat for GYS1 OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 2): GYS1 (NM_002103)
		Sino Biological Human cDNA Clone for GYS1
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for GYS1
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GYS1

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for GYS1
		Browse ESI BIO Cell Lines and PureStem Progenitors for GYS1

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GYS1

(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from COMPARTMENTS:

Compartment	Confidence
cytosol	4
nucleus	3
peroxisome	1

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Gene Ontology (GO): 3 cellular component terms: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005737	cytoplasm	--	--
GO:0005829	cytosol	TAS	--
GO:0016234	inclusion body	IEA	--

GYS1 for ontologies About GeneDecksing

(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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SuperPaths for GYS1 About (see all 21)

See pathways by source

SuperPath

Contained pathways About

Development IGF 1 receptor signaling

	Development IGF RI signaling	0.49			Development IGF 1 receptor signaling	0.48
	Signal transduction AKT signaling	0.49

Glucose metabolism

	Glucose metabolism	0.44			glycogen biosynthesis II (from UDP-D-Glucose)	0.00
	Glycogen synthesis	0.00

Glucuronidation

Starch and sucrose metabolism

0.41

Glycogen metabolism

0.00

Activation of cAMP-Dependent PKA

	Activation of cAMP-Dependent PKA	0.77			Activation of PKA through GPCR	0.71
	cAMP Pathway	0.77			PKA Signaling	0.56

Akt Signaling

Akt Signaling

0.60

Pathways by source See SuperPaths
Show all pathways

1 R&D Systems Pathway for GYS1

Adipocytokines & Insulin Signaling

Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for GYS1 (see all 10)

	Activation of PKA through GPCR
	PKA Signaling
	IGF1R Signaling
	G-AlphaQ Signaling
	AMPK Enzyme Complex Pathway

1 Cell Signaling Technology (CST) Pathway for GYS1

Glucose / Energy Metabolism

4 GeneGo (Thomson Reuters) Pathways for GYS1

	Signal transduction AKT signaling
	Galactose metabolism
	Development IGF-1 receptor signaling
	Glycogen metabolism

5 BioSystems Pathways for GYS1

	Insulin Signaling
	Glycogen Metabolism
	AMPK signaling
	glycogen biosynthesis II (from UDP-D-Glucose)
	Insulin-mediated glucose transport

2 Reactome Pathways for GYS1

	Glycogen synthesis
	Myoclonic epilepsy of Lafora

3 Kegg Pathways (Kegg details for GYS1):

	Starch and sucrose metabolism
	PI3K-Akt signaling pathway
	Insulin signaling pathway

UniProtKB/Swiss-Prot: GYS1_HUMAN, P13807

Pathway: Glycan biosynthesis; glycogen biosynthesis

GYS1 for pathways About GeneDecksing

Pathway & Disease-focused RT² Profiler PCR Arrays including GYS1:

Insulin Resistance in human mouse rat

Hypoxia Signaling Pathway in human mouse rat

Glucose Metabolism in human mouse rat

Interactions:

GeneGlobe Interaction Network for GYS1

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

Selected Interacting proteins for GYS1 (P13807^{1, 2, 3} ENSP00000317904⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 136)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
GSK3B	P49841¹^,³, ENSP00000324806⁴	EBI-740553,EBI-373586 I2D: score=3 STRING: ENSP00000324806
GYG1	P46976¹^,³, ENSP00000340736⁴	EBI-740553,EBI-740533 I2D: score=5 STRING: ENSP00000340736
PASK	Q96RG2²^,³, ENSP00000234040⁴	MINT-8145300 I2D: score=1 STRING: ENSP00000234040
PPP1CC	P36873³, ENSP00000335084⁴	I2D: score=5 STRING: ENSP00000335084
CDK3	Q00526³, ENSP00000400088⁴	I2D: score=4 STRING: ENSP00000400088

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Gene Ontology (GO): Selected biological process terms (see all 7): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005975	carbohydrate metabolic process	TAS	--
GO:0005977	glycogen metabolic process	--	--
GO:0005978	glycogen biosynthetic process	TAS	--
GO:0006006	glucose metabolic process	TAS	--
GO:0007507	heart development	IEA	--

GYS1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse compounds at ApexBio

Browse Tocris compounds for GYS1

3 HMDB Compounds for GYS1 About this table

Compound	Synonyms	CAS #	PubMed Ids
Amylose	4-{(1,4)-alpha-D-Glucosyl}(n-1)-D-glucose (see all 12)	9005-82-7	--
Uridine 5'-diphosphate	5'-UDP (see all 9)	58-98-0	--
Uridine diphosphate glucose	(UPD)-glucose (see all 24)	133-89-1	--

9 Novoseek inferred chemical compound relationships for GYS1 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
glycogen	88.8	161	20300197 (6), 8690177 (4), 8635676 (3), 1899428 (3) (see all 80)
glucose 6-phosphate	74.5	6	1568529 (1), 1907347 (1), 1541385 (1), 1406297 (1)
glucose	67.4	33	8635676 (2), 8690177 (2), 1541385 (2), 8591890 (1) (see all 24)
xbai	52.4	4	10447527 (2), 12411100 (1)
gliclazide	51.4	2	8690177 (2)
epinephrine	25	3	8770022 (1), 19267278 (1)
lipid	7.79	2	18220643 (1), 16609880 (1)
forskolin	6.99	3	14764074 (2)
phosphatidylinositol	1.46	1	11549666 (1)

GYS1 for compounds About GeneDecksing

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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REFSEQ mRNAs for GYS1 gene (2 alternative transcripts):

NM_001161587.1 NM_002103.4

Unigene Cluster for GYS1:

Glycogen synthase 1 (muscle)

Hs.386225 [show with all ESTs]

Unigene Representative Sequence: NM_002103

10 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000323798(uc002plp.3 uc010emm.3 uc010xzz.2) ENST00000263276

ENST00000594220 ENST00000472004 ENST00000496048 ENST00000484289 ENST00000457974

ENST00000541188(uc010yaa.1) ENST00000544287 ENST00000540532

miRNA Products:		Block miRNA regulation of human, mouse, rat GYS1 using miScript Target Protectors
		Selected qRT-PCR Assays for microRNAs that regulate GYS1 (see all 16):
		hsa-miR-3130-5p hsa-miR-140-5p hsa-miR-203 hsa-miR-516b hsa-miR-122 hsa-miR-4290 hsa-miR-548s hsa-miR-3171

		SwitchGear 3'UTR luciferase reporter plasmid: GYS1 3' UTR sequence

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		GenScript: all cDNA clones in your preferred vector (see all 2): GYS1 (NM_002103)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for GYS1
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GYS1

Primer Products:		OriGene qPCR primer pairs and template standards for GYS1 OriGene qSTAR qPCR primer pairs in human, mouse for GYS1
		Pre-validated RT² qPCR Primer Assay in human, mouse, rat GYS1
		QuantiTect SYBR Green Assays in human, mouse, rat GYS1
		QuantiFast Probe-based Assays in human, mouse, rat GYS1

Additional mRNA sequence:

AK223579.1 AK291672.1 AK294349.1 AK300369.1 AK302738.1 AK303712.1 BC002617.2 BC003182.1

BC007688.2 J04501.1 NR_027763.1 U32573.1

23 DOTS entries:

DT.92457812 DT.100876890 DT.316174 DT.99994324 DT.95130309 DT.95130297 DT.121475102 DT.121475215

DT.92457818 DT.100810152 DT.100810155 DT.91918703 DT.100810145 DT.100810147 DT.121475165 DT.121475218

DT.121475223 DT.431628 DT.91738625 DT.98084031 DT.100791343 DT.40238683 DT.91657109

Selected AceView cDNA sequences (see all 307):

AW732328 AW733113 BM666879 CR618373 AA082167 BQ181312 BP357448 BE791846

BE384042 CA423173 BM561740 CB138481 BM705088 BM910502 T29302 CB130062

CN484296 AA101161 BM480364 CD369580 AU104835 BC002617 BM551579 BM713749

GeneLoc Exon Structure

4 Alternative Splicing Database (ASD) splice patterns (SP) for GYS1 About this scheme

ExUns:	1a	·	1b	^	2	^	3	^	4a	·	4b	^	5a	·	5b	^	6	^	7	^	8	^	9	^	10	^	11	^	12	^	13	^	14	^	15	^	16	^	17
SP1:							-		-
SP2:							-		-		-
SP3:
SP4:

ECgene alternative splicing isoforms for GYS1

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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GYS1 expression in normal human tissues (normalized intensities) GYS1 embryonic expression: see
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: TGTGCTGTGC

About this image

GYS1 expression in embryonic tissues and stem cells About this table

Data from LifeMap, the Embryonic Development and Stem Cells Database
selected tissues (see all 11) fully expand


Brain (Nervous System) fully expand to see all 9 entries
Cerebral Cortex

Neural Tube (Nervous System) fully expand to see all 3 entries
Metencephalon

Ovary (Reproductive System) fully expand to see all 2 entries
Ovarian Mesenchymal Stroma Cells Ovary Interstitium
Oviduct

Thymus (Hematopoietic System)
Thymus

Gut Tube (Gastrointestinal Tract)
Foregut

GYS1 Protein expression data from MOPED¹, PaxDb² and MaxQB³:

About this image

GYS1 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.386225

Pathway & Disease-focused RT² Profiler PCR Arrays including GYS1:

Insulin Resistance in human mouse rat

Hypoxia Signaling Pathway in human mouse rat

Glucose Metabolism in human mouse rat

Primer Products:		OriGene qPCR primer pairs and template standards for GYS1 OriGene qSTAR qPCR primer pairs in human, mouse for GYS1
		Pre-validated RT² qPCR Primer Assay in human, mouse, rat GYS1
		QuantiTect SYBR Green Assays in human, mouse, rat GYS1
		QuantiFast Probe-based Assays in human, mouse, rat GYS1

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GYS1

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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This gene was present in the common ancestor of animals and fungi.

Orthologs for GYS1 gene from Selected species (see all 19) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Gys1^{1 , 5}	glycogen synthase 1, muscle^{1, 5}	87.38(n)¹ 96.74(a)¹		7 (29.31 cM)⁵ 14936¹ NM_030678.3¹ NP_109603.2¹ 45434844⁵
lizard (Anolis carolinensis)	Reptilia	GYS1⁶	glycogen synthase 1 (muscle)	83(a)	1 ↔ 1	GL343287.1(45277-78637)
African clawed frog (Xenopus laevis)	Amphibia	BJ066332.1²	--	77.96(n)		BJ066332.1
zebrafish (Danio rerio)	Actinopterygii	BC054932.1²	--	77.29(n)		394155 BC054932.1
fruit fly (Drosophila melanogaster)	Insecta	CG6904^{1 , 3}	glycogen biosynthesis glycogen (starch) synthase less³ CG6904¹	60(a)³ 62.52(n)¹ 60.7(a)¹		88E2³ 41823¹ NM_169610.2¹ NP_731967.2¹
worm (Caenorhabditis elegans)	Secernentea	Y46G5A.31³ gsy-1¹	gsy-1¹	54(a)³ 58.07(n)¹ 55.77(a)¹		II(12866742-12877985)³ 174924¹ NM_064335.5¹ NP_496736.1¹
baker's yeast (Saccharomyces cerevisiae)	Saccharomycetes	GSY1(YFR015C)⁴ GSY1¹	Glycogen synthase with similarity to Gsy2p, the more highly expressed yeast homolog; expression induced by glucose limitation, nitrogen starvation, environmental stress, and entry into stationary phase less⁴ GSY1¹	56.2(n)¹ 58.04(a)¹		6(176391-174265)⁴ 850569^{1, 4} NP_116670.1^{1, 4}

ENSEMBL Gene Tree for GYS1 (if available)
TreeFam Gene Tree for GYS1 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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Paralogs for GYS1 gene

GYS2²

1 SIMAP similar gene for GYS1 using alignment to 5 protein entries: GYS1_HUMAN (see all proteins):

GYS2

GYS1 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, ⁴UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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SNP ID	Valid	Clinical significance	Chr 19 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs3837952^1,2	C	--	49473486(-)	`TGGTAG/-GGGTC`	3	--	int¹		1		NA	2
rs11456505^1,2	C	--	49476584(+)	`TTTTTT/-ATAGC`	3	--	int¹ trp³		1		NA	2
rs141010358^1,2	C	--	49478172(+)	`TTTTC-/TTTCT TTTCT`	3	--	int¹		0	--	--	--	--
rs3086740^1,2	C	--	49478176(+)	`ctttc-/TTTC T/TTTTCtttta`	3	--	int¹ trp³		0	--	--	--	--
rs112431426^1,2	F	--	49478720(+)	`ACTCCC/TTTACC`	3	--	int¹		1		CSA	2
rs144353363^1,2	C	--	49481787(+)	`TTTAT-/TTATTA TTATT`	3	--	cds¹ int¹		0	--	--	--	--
rs71294392^1,2	C	--	49481792(-)	`CTGTCAATAAT/- AATAA`	3	--	cds¹ int¹		1		NA	2
rs35801677^1,2	C	--	49482203(+)	`GCTTA-/GGACCC`	3	--	int¹		0	--	--	--	--
rs57693449^1,2	C,F	--	49482204(+)	`CTTAGG/AACCCA`	3	--	int¹		5		NA WA EA	362
rs61016164^1,2	C,F	--	49482205(+)	`TTAGGA/TCCCAC`	3	--	int¹		6		NA WA EA	364

HapMap Linkage Disequilibrium report for GYS1 (49471382 - 49496610 bp)

Structural Variations
Database of Genomic Variants (DGV) 5 variations for GYS1: About this table

Variant ID	Type	Subtype	PubMed ID
nsv833857	CNV	Loss	17160897
dgv3970n71	CNV	Loss	21882294
nsv833856	CNV	Loss	17160897
nsv912248	CNV	Loss	21882294
nsv9739	CNV	Gain+Loss	18304495

Human Gene Mutation Database (HGMD): GYS1

Site Specific Mutation Identification with PCR Assays

SeqTarget long-range PCR primers for resequencing GYS1

DNA2.0 Custom Variant and Variant Library Synthesis for GYS1

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 138570
OMIM disorders: 611556
UniProtKB/Swiss-Prot: GYS1_HUMAN, P13807

Muscle glycogen storage disease 0 (GSD0b) [MIM:611556]: Metabolic disorder characterized by fasting

hypoglycemia presenting in infancy or early childhood. The role of muscle glycogen is to provide critical energy

during bursts of activity and sustained muscle work. Note=The disease is caused by mutations affecting the gene

represented in this entry

Selected diseases for GYS1 (see all 28): About MalaCards

glycogen storage disease type 0, muscle glycogen storage disease type 0 glucose intolerance glycogen storage disease

myoclonus epilepsy progressive myoclonus epilepsy myoclonus hyperglycemia

insulin resistance hypoglycemia pancreatic ductal adenocarcinoma polycystic ovary syndrome

diabetes mellitus labyrinthitis essential hypertension hypertension

myopathy astrocytoma hypoxia obesity

1 disease from the University of Copenhagen DISEASES database for GYS1:

Glycogen storage disease

GYS1 for disorders About GeneDecksing

8 Novoseek inferred disease relationships for GYS1 gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
insulin resistance	68.5	20	12870167 (4), 9267990 (2), 8591890 (1), 11110507 (1) (see all 13)
niddm	67.1	40	8721777 (3), 8690177 (3), 9267990 (3), 1568529 (2) (see all 16)
hyperinsulinemia	62.9	2	1907347 (1), 9240761 (1)
insulin sensitivity	56.6	2	8536147 (1), 7498245 (1)
hyperglycemia	41	3	1541385 (1), 10770201 (1), 12411100 (1)
glucose intolerance	23.3	1	8786726 (1)
hypoglycemia	17.2	4	8635676 (3), 8200993 (1)
diabetes mellitus	0	2	1899428 (2)

Genetic Association Database (GAD): GYS1
Human Genome Epidemiology (HuGE) Navigator: GYS1 (17 documents)

Export disorders for GYS1 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for GYS1 gene, integrated from 10 sources (see all 149):
(articles sorted by number of sources associating them with GYS1)

Utopia: connect your pdf to the dynamic
world of online information

Variation in GYS1 interacts with exercise and gender to predict cardiovascular mortality. (PubMed id 17356695)^{1, 4, 9} Fredriksson J....Orho-Melander M. (PLoS ONE 2007)
Association of GYS1 and beta(3)-AR gene with postprandial hyperglycemia and serum uric acid in type 2 diabetes mellitus. (PubMed id 12411100)^{1, 4, 9} Wang G....Xu X. (Chin. Med. J. 2002)
Association of muscle glycogen synthase polymorphism with insulin resistance in type 2 diabetic patients. (PubMed id 12870167)^{1, 4, 9} Motoyama K....Nishizawa Y. (Metab. Clin. Exp. 2003)
The stimulation-induced increase in skeletal muscle glycogen synthase content is impaired in carriers of the glycogen synthase XbaI gene polymorphism. (PubMed id 11147787)^{1, 4, 9} St-Onge J....Simoneau J.A. (Diabetes 2001)
Physiogenomic comparison of edema and BMI in patients receiving rosiglitazone or pioglitazone. (PubMed id 18996102)^{1, 4, 9} RuaA+o G....Hanks S. ( international journal of clinical chemistry 2009)
Association of sixty-one non-synonymous polymorphisms in forty-one hypertension candidate genes with blood pressure variation and hypertension. (PubMed id 17137217)^{1, 4, 9} Kokubo Y....Miyata T. (Hypertens. Res. 2006)
Combining genetic markers and clinical risk factors improves the risk assessment of impaired glucose metabolism. (PubMed id 20384434)^{1, 4} Ruchat S.M....PAcrusse L. (Ann. Med. 2010)
Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)^{1, 4} Bailey S.D....Anand S. (Diabetes Care 2010)
Physiogenomic analysis of statin-treated patients: domain-specific counter effects within the ACACB gene on low-density lipoprotein cholesterol? (PubMed id 20602615)^{1, 4} RuaA+o G....Wu A.H. (Pharmacogenomics 2010)
A candidate gene approach to genetic prognostic factors of IgA nephropathy--a result of Polymorphism REsearch to DIstinguish genetic factors Contributing To progression of IgA Nephropathy (PREDICT-IgAN). (PubMed id 19420105)^{1, 4} Yamamoto R....Rakugi H. (Nephrol. Dial. Transplant. 2009)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 2997	HGNC: 4706	AceView: GYS1	Ensembl:ENSG00000104812	euGenes: HUgn2997
ECgene: GYS1	Kegg: 2997	H-InvDB: GYS1

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for GYS1	Pharmacogenomics, SNPs, Pathways

Intellectual Property for GYS1 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for GYS1 gene:
Search GeneIP for patents involving GYS1

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

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GYS1 Gene

Glycogen Synthase 1 (Muscle)

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GYS1 Gene

Glycogen Synthase 1 (Muscle)

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