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Protein

Glycogen [starch] synthase, muscle

Gene

GYS1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

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

Catalytic activityi

UDP-alpha-D-glucose + ((1->4)-alpha-D-glucosyl)(n) = UDP + ((1->4)-alpha-D-glucosyl)(n+1).

Activity regulationi

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).By similarity

Pathwayi: glycogen biosynthesis

This protein is involved in the pathway glycogen biosynthesis, which is part of Glycan biosynthesis.
View all proteins of this organism that are known to be involved in the pathway glycogen biosynthesis and in Glycan biosynthesis.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Binding sitei39UDP-glucoseBy similarity1

GO - Molecular functioni

  • glucose binding Source: GO_Central
  • glycogen (starch) synthase activity Source: UniProtKB
  • glycogen synthase activity, transferring glucose-1-phosphate Source: Reactome
  • protein kinase binding Source: UniProtKB

GO - Biological processi

Keywordsi

Molecular functionAllosteric enzyme, Glycosyltransferase, Transferase
Biological processGlycogen biosynthesis

Enzyme and pathway databases

BioCyciMetaCyc:HS02622-MONOMER
BRENDAi2.4.1.11 2681
ReactomeiR-HSA-3322077 Glycogen synthesis
R-HSA-3785653 Myoclonic epilepsy of Lafora
R-HSA-3814836 Glycogen storage disease type XV (GYG1)
R-HSA-3828062 Glycogen storage disease type 0 (muscle GYS1)
SIGNORiP13807
UniPathwayi
UPA00164

Protein family/group databases

CAZyiGT3 Glycosyltransferase Family 3

Names & Taxonomyi

Protein namesi
Recommended name:
Glycogen [starch] synthase, muscle (EC:2.4.1.11)
Gene namesi
Name:GYS1
Synonyms:GYS
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 19

Organism-specific databases

EuPathDBiHostDB:ENSG00000104812.14
HGNCiHGNC:4706 GYS1
MIMi138570 gene
neXtProtiNX_P13807

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Pathology & Biotechi

Involvement in diseasei

Muscle glycogen storage disease 0 (GSD0b)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionMetabolic 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.
See also OMIM:611556

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi641S → A: Abolishes PASK-mediated phosphorylation. 1 Publication1
Mutagenesisi645S → A: Does not affect PASK-mediated phosphorylation. 1 Publication1

Keywords - Diseasei

Diabetes mellitus, Disease mutation

Organism-specific databases

DisGeNETi2997
MalaCardsiGYS1
MIMi611556 phenotype
OpenTargetsiENSG00000104812
Orphaneti137625 Glycogen storage disease due to muscle and heart glycogen synthase deficiency
PharmGKBiPA29084

Chemistry databases

ChEMBLiCHEMBL4000

Polymorphism and mutation databases

BioMutaiGYS1
DMDMi1351366

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001947631 – 737Glycogen [starch] synthase, muscleAdd BLAST737

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei8Phosphoserine; by AMPK and PKABy similarity1
Modified residuei11PhosphoserineBy similarity1
Modified residuei412PhosphoserineCombined sources1
Modified residuei641PhosphoserineCombined sources1 Publication1
Modified residuei645PhosphoserineCombined sources1
Modified residuei649PhosphoserineCombined sources1
Modified residuei652PhosphoserineBy similarity1
Modified residuei653Phosphoserine; by GSK3-alpha and GSK3-betaBy similarity1
Modified residuei657Phosphoserine; by CK2By similarity1
Modified residuei698PhosphoserineBy similarity1
Modified residuei700PhosphothreonineCombined sources1
Modified residuei710PhosphoserineCombined sources1
Modified residuei721PhosphothreonineBy similarity1
Modified residuei727PhosphoserineCombined sources1

Post-translational modificationi

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 enzyme.By similarity1 Publication

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiP13807
MaxQBiP13807
PaxDbiP13807
PeptideAtlasiP13807
PRIDEiP13807
ProteomicsDBi52994
52995 [P13807-2]

PTM databases

iPTMnetiP13807
PhosphoSitePlusiP13807

Expressioni

Gene expression databases

BgeeiENSG00000104812 Expressed in 200 organ(s), highest expression level in muscle of leg
CleanExiHS_GYS1
ExpressionAtlasiP13807 baseline and differential
GenevisibleiP13807 HS

Organism-specific databases

HPAiCAB007793
HPA041598

Interactioni

Subunit structurei

Interacts with GYG1.1 Publication

Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

BioGridi109252, 37 interactors
IntActiP13807, 66 interactors
MINTiP13807
STRINGi9606.ENSP00000317904

Chemistry databases

BindingDBiP13807

Structurei

3D structure databases

ProteinModelPortaliP13807
SMRiP13807
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the glycosyltransferase 3 family.Curated

Phylogenomic databases

eggNOGiKOG3742 Eukaryota
COG0438 LUCA
GeneTreeiENSGT00390000018612
HOGENOMiHOG000160890
HOVERGENiHBG001960
InParanoidiP13807
KOiK00693
OMAiGHFYGHM
OrthoDBiEOG091G0304
PhylomeDBiP13807
TreeFamiTF300306

Family and domain databases

CDDicd03793 GT1_Glycogen_synthase_GSY2_lik, 1 hit
InterProiView protein in InterPro
IPR008631 Glycogen_synth
PANTHERiPTHR10176 PTHR10176, 1 hit
PfamiView protein in Pfam
PF05693 Glycogen_syn, 1 hit

Sequences (2+)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

Isoform 1 (identifier: P13807-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MPLNRTLSMS SLPGLEDWED EFDLENAVLF EVAWEVANKV GGIYTVLQTK
60 70 80 90 100
AKVTGDEWGD NYFLVGPYTE QGVRTQVELL EAPTPALKRT LDSMNSKGCK
110 120 130 140 150
VYFGRWLIEG GPLVVLLDVG ASAWALERWK GELWDTCNIG VPWYDREAND
160 170 180 190 200
AVLFGFLTTW FLGEFLAQSE EKPHVVAHFH EWLAGVGLCL CRARRLPVAT
210 220 230 240 250
IFTTHATLLG RYLCAGAVDF YNNLENFNVD KEAGERQIYH RYCMERAAAH
260 270 280 290 300
CAHVFTTVSQ ITAIEAQHLL KRKPDIVTPN GLNVKKFSAM HEFQNLHAQS
310 320 330 340 350
KARIQEFVRG HFYGHLDFNL DKTLYFFIAG RYEFSNKGAD VFLEALARLN
360 370 380 390 400
YLLRVNGSEQ TVVAFFIMPA RTNNFNVETL KGQAVRKQLW DTANTVKEKF
410 420 430 440 450
GRKLYESLLV GSLPDMNKML DKEDFTMMKR AIFATQRQSF PPVCTHNMLD
460 470 480 490 500
DSSDPILTTI RRIGLFNSSA DRVKVIFHPE FLSSTSPLLP VDYEEFVRGC
510 520 530 540 550
HLGVFPSYYE PWGYTPAECT VMGIPSISTN LSGFGCFMEE HIADPSAYGI
560 570 580 590 600
YILDRRFRSL DDSCSQLTSF LYSFCQQSRR QRIIQRNRTE RLSDLLDWKY
610 620 630 640 650
LGRYYMSARH MALSKAFPEH FTYEPNEADA AQGYRYPRPA SVPPSPSLSR
660 670 680 690 700
HSSPHQSEDE EDPRNGPLEE DGERYDEDEE AAKDRRNIRA PEWPRRASCT
710 720 730
SSTSGSKRNS VDTATSSSLS TPSEPLSPTS SLGEERN
Length:737
Mass (Da):83,786
Last modified:February 1, 1996 - v2
Checksum:i0E321BBFDEB0BD7F
GO
Isoform 2 (identifier: P13807-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     101-164: Missing.

Note: No experimental confirmation available.
Show »
Length:673
Mass (Da):76,483
Checksum:i8C059070E0D075FC
GO

Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
M0QYU1M0QYU1_HUMAN
Glycogen [starch] synthase
GYS1
113Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti136T → I in AAA88046 (PubMed:2493642).Curated1
Sequence conflicti136T → I in AAB60385 (PubMed:9010351).Curated1
Sequence conflicti462Missing in AAB60385 (PubMed:9010351).Curated1
Sequence conflicti608A → D in AAB60385 (PubMed:9010351).Curated1
Sequence conflicti706S → R in AAA88046 (PubMed:2493642).Curated1
Sequence conflicti706S → R in AAB60385 (PubMed:9010351).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_037958108I → M. Corresponds to variant dbSNP:rs5455Ensembl.1
Natural variantiVAR_014727130K → E. Corresponds to variant dbSNP:rs5456Ensembl.1
Natural variantiVAR_014728283N → S. Corresponds to variant dbSNP:rs5461Ensembl.1
Natural variantiVAR_014729359E → G. Corresponds to variant dbSNP:rs5465Ensembl.1
Natural variantiVAR_014730416M → V. Corresponds to variant dbSNP:rs5447EnsemblClinVar.1
Natural variantiVAR_007859464G → S in NIDDM. 1 PublicationCorresponds to variant dbSNP:rs200862074Ensembl.1
Natural variantiVAR_014731619E → Q. Corresponds to variant dbSNP:rs5450Ensembl.1
Natural variantiVAR_014732691P → A. Corresponds to variant dbSNP:rs5453Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_042745101 – 164Missing in isoform 2. 1 PublicationAdd BLAST64

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
J04501 mRNA Translation: AAA88046.1
Z33622
, Z33623, Z33609, Z33624, Z33625, Z33626, Z33610, Z33627, Z33628, Z33629, Z33630, Z33631, Z33633 Genomic DNA Translation: CAA83916.1
U32573 mRNA Translation: AAB60385.1
AC008687 Genomic DNA No translation available.
AC026803 Genomic DNA No translation available.
AC098792 Genomic DNA No translation available.
CH471177 Genomic DNA Translation: EAW52424.1
BC002617 mRNA Translation: AAH02617.1
BC003182 mRNA Translation: AAH03182.1
BC007688 mRNA Translation: AAH07688.1
CCDSiCCDS12747.1 [P13807-1]
CCDS54292.1 [P13807-2]
PIRiA32156
RefSeqiNP_001155059.1, NM_001161587.1 [P13807-2]
NP_002094.2, NM_002103.4 [P13807-1]
UniGeneiHs.386225

Genome annotation databases

EnsembliENST00000263276; ENSP00000263276; ENSG00000104812 [P13807-2]
ENST00000323798; ENSP00000317904; ENSG00000104812 [P13807-1]
GeneIDi2997
KEGGihsa:2997
UCSCiuc002plp.4 human [P13807-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
J04501 mRNA Translation: AAA88046.1
Z33622
, Z33623, Z33609, Z33624, Z33625, Z33626, Z33610, Z33627, Z33628, Z33629, Z33630, Z33631, Z33633 Genomic DNA Translation: CAA83916.1
U32573 mRNA Translation: AAB60385.1
AC008687 Genomic DNA No translation available.
AC026803 Genomic DNA No translation available.
AC098792 Genomic DNA No translation available.
CH471177 Genomic DNA Translation: EAW52424.1
BC002617 mRNA Translation: AAH02617.1
BC003182 mRNA Translation: AAH03182.1
BC007688 mRNA Translation: AAH07688.1
CCDSiCCDS12747.1 [P13807-1]
CCDS54292.1 [P13807-2]
PIRiA32156
RefSeqiNP_001155059.1, NM_001161587.1 [P13807-2]
NP_002094.2, NM_002103.4 [P13807-1]
UniGeneiHs.386225

3D structure databases

ProteinModelPortaliP13807
SMRiP13807
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi109252, 37 interactors
IntActiP13807, 66 interactors
MINTiP13807
STRINGi9606.ENSP00000317904

Chemistry databases

BindingDBiP13807
ChEMBLiCHEMBL4000

Protein family/group databases

CAZyiGT3 Glycosyltransferase Family 3

PTM databases

iPTMnetiP13807
PhosphoSitePlusiP13807

Polymorphism and mutation databases

BioMutaiGYS1
DMDMi1351366

Proteomic databases

EPDiP13807
MaxQBiP13807
PaxDbiP13807
PeptideAtlasiP13807
PRIDEiP13807
ProteomicsDBi52994
52995 [P13807-2]

Protocols and materials databases

DNASUi2997
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000263276; ENSP00000263276; ENSG00000104812 [P13807-2]
ENST00000323798; ENSP00000317904; ENSG00000104812 [P13807-1]
GeneIDi2997
KEGGihsa:2997
UCSCiuc002plp.4 human [P13807-1]

Organism-specific databases

CTDi2997
DisGeNETi2997
EuPathDBiHostDB:ENSG00000104812.14
GeneCardsiGYS1
HGNCiHGNC:4706 GYS1
HPAiCAB007793
HPA041598
MalaCardsiGYS1
MIMi138570 gene
611556 phenotype
neXtProtiNX_P13807
OpenTargetsiENSG00000104812
Orphaneti137625 Glycogen storage disease due to muscle and heart glycogen synthase deficiency
PharmGKBiPA29084
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3742 Eukaryota
COG0438 LUCA
GeneTreeiENSGT00390000018612
HOGENOMiHOG000160890
HOVERGENiHBG001960
InParanoidiP13807
KOiK00693
OMAiGHFYGHM
OrthoDBiEOG091G0304
PhylomeDBiP13807
TreeFamiTF300306

Enzyme and pathway databases

UniPathwayi
UPA00164

BioCyciMetaCyc:HS02622-MONOMER
BRENDAi2.4.1.11 2681
ReactomeiR-HSA-3322077 Glycogen synthesis
R-HSA-3785653 Myoclonic epilepsy of Lafora
R-HSA-3814836 Glycogen storage disease type XV (GYG1)
R-HSA-3828062 Glycogen storage disease type 0 (muscle GYS1)
SIGNORiP13807

Miscellaneous databases

ChiTaRSiGYS1 human
GenomeRNAii2997
PROiPR:P13807
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000104812 Expressed in 200 organ(s), highest expression level in muscle of leg
CleanExiHS_GYS1
ExpressionAtlasiP13807 baseline and differential
GenevisibleiP13807 HS

Family and domain databases

CDDicd03793 GT1_Glycogen_synthase_GSY2_lik, 1 hit
InterProiView protein in InterPro
IPR008631 Glycogen_synth
PANTHERiPTHR10176 PTHR10176, 1 hit
PfamiView protein in Pfam
PF05693 Glycogen_syn, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiGYS1_HUMAN
AccessioniPrimary (citable) accession number: P13807
Secondary accession number(s): Q9BTT9
Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 1, 1990
Last sequence update: February 1, 1996
Last modified: November 7, 2018
This is version 188 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. Human chromosome 19
    Human chromosome 19: entries, gene names and cross-references to MIM
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Main funding by: National Institutes of Health

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