Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Glycogen [starch] synthase, liver

Gene

GYS2

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 sitei40UDP-glucoseBy similarity1

GO - Molecular functioni

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

GO - Biological processi

Keywordsi

Molecular functionAllosteric enzyme, Glycosyltransferase, Transferase
Biological processGlycogen biosynthesis

Enzyme and pathway databases

ReactomeiR-HSA-3322077 Glycogen synthesis
R-HSA-3785653 Myoclonic epilepsy of Lafora
R-HSA-3858516 Glycogen storage disease type 0 (liver GYS2)
R-HSA-3878781 Glycogen storage disease type IV (GBE1)
UniPathwayi
UPA00164

Protein family/group databases

CAZyiGT3 Glycosyltransferase Family 3

Names & Taxonomyi

Protein namesi
Recommended name:
Glycogen [starch] synthase, liver (EC:2.4.1.11)
Gene namesi
Name:GYS2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 12

Organism-specific databases

EuPathDBiHostDB:ENSG00000111713.2
HGNCiHGNC:4707 GYS2
MIMi138571 gene
neXtProtiNX_P54840

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

Glycogen storage disease 0 (GSD0)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA metabolic disorder characterized by fasting hypoglycemia presenting in infancy or early childhood, high blood ketones and low alanine and lactate concentrations. Although feeding relieves symptoms, it often results in postprandial hyperglycemia and hyperlactatemia.
See also OMIM:240600
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00786039N → S in GSD0. 1 PublicationCorresponds to variant dbSNP:rs121918423EnsemblClinVar.1
Natural variantiVAR_007861339A → P in GSD0. 1 PublicationCorresponds to variant dbSNP:rs121918421EnsemblClinVar.1
Natural variantiVAR_007862446H → D in GSD0. 1 PublicationCorresponds to variant dbSNP:rs121918425EnsemblClinVar.1
Natural variantiVAR_007863479P → Q in GSD0. 1 PublicationCorresponds to variant dbSNP:rs121918420EnsemblClinVar.1
Natural variantiVAR_007864483S → P in GSD0. 1 PublicationCorresponds to variant dbSNP:rs121918424EnsemblClinVar.1
Natural variantiVAR_007865491M → R in GSD0. 1 PublicationCorresponds to variant dbSNP:rs121918422EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Glycogen storage disease

Organism-specific databases

DisGeNETi2998
MalaCardsiGYS2
MIMi240600 phenotype
OpenTargetsiENSG00000111713
Orphaneti2089 Glycogen storage disease due to hepatic glycogen synthase deficiency
PharmGKBiPA29085

Polymorphism and mutation databases

BioMutaiGYS2
DMDMi288558811

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001947681 – 703Glycogen [starch] synthase, liverAdd BLAST703

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei8Phosphoserine; by PKABy similarity1
Modified residuei11PhosphoserineBy similarity1
Modified residuei627PhosphoserineCombined sources1
Modified residuei641Phosphoserine; by GSK3-alpha and GSK3-betaBy similarity1
Modified residuei645Phosphoserine; by GSK3-alpha and GSK3-betaBy similarity1
Modified residuei649Phosphoserine; by GSK3-alpha and GSK3-betaBy similarity1
Modified residuei653Phosphoserine; by GSK3-alpha and GSK3-betaBy similarity1
Modified residuei657Phosphoserine; by CK2By similarity1
Modified residuei683PhosphoserineCombined sources1

Post-translational modificationi

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. Dephosphorylation at Ser-641 and Ser-645 by PP1 activates the enzyme (By similarity). Phosphorylation at Ser-8 is not required for interaction with GYG1 (By similarity). Interaction with GYG1 does not regulate the phosphorylation at Ser-8 and Ser-641 (By similarity).By similarity

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiP54840
MaxQBiP54840
PaxDbiP54840
PeptideAtlasiP54840
PRIDEiP54840
ProteomicsDBi56737

PTM databases

iPTMnetiP54840
PhosphoSitePlusiP54840

Expressioni

Gene expression databases

BgeeiENSG00000111713 Expressed in 65 organ(s), highest expression level in liver
CleanExiHS_GYS2
GenevisibleiP54840 HS

Organism-specific databases

HPAiHPA039482

Interactioni

Subunit structurei

Interacts with GYG1 (via C-terminus); required for GYS2-mediated glycogen synthesis.By similarity

GO - Molecular functioni

Protein-protein interaction databases

BioGridi109253, 6 interactors
IntActiP54840, 4 interactors
MINTiP54840
STRINGi9606.ENSP00000261195

Structurei

3D structure databases

ProteinModelPortaliP54840
SMRiP54840
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the glycosyltransferase 3 family.Curated

Phylogenomic databases

eggNOGiKOG3742 Eukaryota
COG0438 LUCA
GeneTreeiENSGT00390000018612
HOGENOMiHOG000160890
HOVERGENiHBG001960
InParanoidiP54840
KOiK00693
OMAiTADEWGD
OrthoDBiEOG091G0304
PhylomeDBiP54840
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

Sequencei

Sequence statusi: Complete.

P54840-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MLRGRSLSVT SLGGLPQWEV EELPVEELLL FEVAWEVTNK VGGIYTVIQT
60 70 80 90 100
KAKTTADEWG ENYFLIGPYF EHNMKTQVEQ CEPVNDAVRR AVDAMNKHGC
110 120 130 140 150
QVHFGRWLIE GSPYVVLFDI GYSAWNLDRW KGDLWEACSV GIPYHDREAN
160 170 180 190 200
DMLIFGSLTA WFLKEVTDHA DGKYVVAQFH EWQAGIGLIL SRARKLPIAT
210 220 230 240 250
IFTTHATLLG RYLCAANIDF YNHLDKFNID KEAGERQIYH RYCMERASVH
260 270 280 290 300
CAHVFTTVSE ITAIEAEHML KRKPDVVTPN GLNVKKFSAV HEFQNLHAMY
310 320 330 340 350
KARIQDFVRG HFYGHLDFDL EKTLFLFIAG RYEFSNKGAD IFLESLSRLN
360 370 380 390 400
FLLRMHKSDI TVMVFFIMPA KTNNFNVETL KGQAVRKQLW DVAHSVKEKF
410 420 430 440 450
GKKLYDALLR GEIPDLNDIL DRDDLTIMKR AIFSTQRQSL PPVTTHNMID
460 470 480 490 500
DSTDPILSTI RRIGLFNNRT DRVKVILHPE FLSSTSPLLP MDYEEFVRGC
510 520 530 540 550
HLGVFPSYYE PWGYTPAECT VMGIPSVTTN LSGFGCFMQE HVADPTAYGI
560 570 580 590 600
YIVDRRFRSP DDSCNQLTKF LYGFCKQSRR QRIIQRNRTE RLSDLLDWRY
610 620 630 640 650
LGRYYQHARH LTLSRAFPDK FHVELTSPPT TEGFKYPRPS SVPPSPSGSQ
660 670 680 690 700
ASSPQSSDVE DEVEDERYDE EEEAERDRLN IKSPFSLSHV PHGKKKLHGE

YKN
Length:703
Mass (Da):80,989
Last modified:February 9, 2010 - v2
Checksum:i718F000D6D00CA4A
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti97K → M in BAA06154 (Ref. 3) Curated1
Sequence conflicti178Q → R in BAA06154 (Ref. 3) Curated1
Sequence conflicti186I → V in BAA06154 (Ref. 3) Curated1
Sequence conflicti335 – 336SN → FKT in BAA06154 (Ref. 3) Curated2
Sequence conflicti344E → D in BAA06154 (Ref. 3) Curated1
Sequence conflicti441P → A in BAA06154 (Ref. 3) Curated1
Sequence conflicti576 – 577KQ → NM in BAA06154 (Ref. 3) Curated2
Sequence conflicti583I → F in BAA06154 (Ref. 3) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00786039N → S in GSD0. 1 PublicationCorresponds to variant dbSNP:rs121918423EnsemblClinVar.1
Natural variantiVAR_055885193A → T. Corresponds to variant dbSNP:rs16924038EnsemblClinVar.1
Natural variantiVAR_007861339A → P in GSD0. 1 PublicationCorresponds to variant dbSNP:rs121918421EnsemblClinVar.1
Natural variantiVAR_058848363M → V4 PublicationsCorresponds to variant dbSNP:rs2306180EnsemblClinVar.1
Natural variantiVAR_055886415D → E. Corresponds to variant dbSNP:rs16924002EnsemblClinVar.1
Natural variantiVAR_007862446H → D in GSD0. 1 PublicationCorresponds to variant dbSNP:rs121918425EnsemblClinVar.1
Natural variantiVAR_007863479P → Q in GSD0. 1 PublicationCorresponds to variant dbSNP:rs121918420EnsemblClinVar.1
Natural variantiVAR_007864483S → P in GSD0. 1 PublicationCorresponds to variant dbSNP:rs121918424EnsemblClinVar.1
Natural variantiVAR_007865491M → R in GSD0. 1 PublicationCorresponds to variant dbSNP:rs121918422EnsemblClinVar.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
S70004 mRNA Translation: AAB30886.1
AJ003087
, AJ003088, AJ003089, AJ003090, AJ003091, AJ003092, AJ003093, AJ003094, AJ003095, AJ003096, AJ003097, AJ003098, AJ003099, AJ003100, AJ003101, AJ003102 Genomic DNA Translation: CAA05859.1
D29685 mRNA Translation: BAA06154.1
AC006559 Genomic DNA No translation available.
AC010197 Genomic DNA No translation available.
AC022072 Genomic DNA No translation available.
BC126310 mRNA Translation: AAI26311.1
BC126312 mRNA Translation: AAI26313.1
CCDSiCCDS8690.1
PIRiS45686
RefSeqiNP_068776.2, NM_021957.3
UniGeneiHs.82614

Genome annotation databases

EnsembliENST00000261195; ENSP00000261195; ENSG00000111713
GeneIDi2998
KEGGihsa:2998
UCSCiuc001rfb.3 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
S70004 mRNA Translation: AAB30886.1
AJ003087
, AJ003088, AJ003089, AJ003090, AJ003091, AJ003092, AJ003093, AJ003094, AJ003095, AJ003096, AJ003097, AJ003098, AJ003099, AJ003100, AJ003101, AJ003102 Genomic DNA Translation: CAA05859.1
D29685 mRNA Translation: BAA06154.1
AC006559 Genomic DNA No translation available.
AC010197 Genomic DNA No translation available.
AC022072 Genomic DNA No translation available.
BC126310 mRNA Translation: AAI26311.1
BC126312 mRNA Translation: AAI26313.1
CCDSiCCDS8690.1
PIRiS45686
RefSeqiNP_068776.2, NM_021957.3
UniGeneiHs.82614

3D structure databases

ProteinModelPortaliP54840
SMRiP54840
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi109253, 6 interactors
IntActiP54840, 4 interactors
MINTiP54840
STRINGi9606.ENSP00000261195

Protein family/group databases

CAZyiGT3 Glycosyltransferase Family 3

PTM databases

iPTMnetiP54840
PhosphoSitePlusiP54840

Polymorphism and mutation databases

BioMutaiGYS2
DMDMi288558811

Proteomic databases

EPDiP54840
MaxQBiP54840
PaxDbiP54840
PeptideAtlasiP54840
PRIDEiP54840
ProteomicsDBi56737

Protocols and materials databases

DNASUi2998
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000261195; ENSP00000261195; ENSG00000111713
GeneIDi2998
KEGGihsa:2998
UCSCiuc001rfb.3 human

Organism-specific databases

CTDi2998
DisGeNETi2998
EuPathDBiHostDB:ENSG00000111713.2
GeneCardsiGYS2
H-InvDBiHIX0036868
HGNCiHGNC:4707 GYS2
HPAiHPA039482
MalaCardsiGYS2
MIMi138571 gene
240600 phenotype
neXtProtiNX_P54840
OpenTargetsiENSG00000111713
Orphaneti2089 Glycogen storage disease due to hepatic glycogen synthase deficiency
PharmGKBiPA29085
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3742 Eukaryota
COG0438 LUCA
GeneTreeiENSGT00390000018612
HOGENOMiHOG000160890
HOVERGENiHBG001960
InParanoidiP54840
KOiK00693
OMAiTADEWGD
OrthoDBiEOG091G0304
PhylomeDBiP54840
TreeFamiTF300306

Enzyme and pathway databases

UniPathwayi
UPA00164

ReactomeiR-HSA-3322077 Glycogen synthesis
R-HSA-3785653 Myoclonic epilepsy of Lafora
R-HSA-3858516 Glycogen storage disease type 0 (liver GYS2)
R-HSA-3878781 Glycogen storage disease type IV (GBE1)

Miscellaneous databases

ChiTaRSiGYS2 human
GenomeRNAii2998
PROiPR:P54840
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000111713 Expressed in 65 organ(s), highest expression level in liver
CleanExiHS_GYS2
GenevisibleiP54840 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 nameiGYS2_HUMAN
AccessioniPrimary (citable) accession number: P54840
Secondary accession number(s): A0AVD8
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: February 9, 2010
Last modified: November 7, 2018
This is version 160 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 12
    Human chromosome 12: entries, gene names and cross-references to MIM
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again