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Protein

Glycogen [starch] synthase, liver

Gene

GYS2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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).

Enzyme 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

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

GO - Biological processi

  • generation of precursor metabolites and energy Source: ProtInc
  • glycogen biosynthetic process Source: UniProtKB
  • response to glucose Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Glycosyltransferase, Transferase

Keywords - Biological processi

Glycogen biosynthesis

Enzyme and pathway databases

BioCyciZFISH:HS03451-MONOMER.
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).
UniPathwayiUPA00164.

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

HGNCiHGNC:4707. GYS2.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

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 rs121918423dbSNPEnsembl.1
Natural variantiVAR_007861339A → P in GSD0. 1 PublicationCorresponds to variant rs121918421dbSNPEnsembl.1
Natural variantiVAR_007862446H → D in GSD0. 1 PublicationCorresponds to variant rs121918425dbSNPEnsembl.1
Natural variantiVAR_007863479P → Q in GSD0. 1 PublicationCorresponds to variant rs121918420dbSNPEnsembl.1
Natural variantiVAR_007864483S → P in GSD0. 1 PublicationCorresponds to variant rs121918424dbSNPEnsembl.1
Natural variantiVAR_007865491M → R in GSD0. 1 PublicationCorresponds to variant rs121918422dbSNPEnsembl.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.

PTM databases

iPTMnetiP54840.
PhosphoSitePlusiP54840.

Expressioni

Gene expression databases

BgeeiENSG00000111713.
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 homodimerization activity Source: UniProtKB

Protein-protein interaction databases

BioGridi109253. 6 interactors.
IntActiP54840. 4 interactors.
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.
OMAiKHVIAQF.
OrthoDBiEOG091G0304.
PhylomeDBiP54840.
TreeFamiTF300306.

Family and domain databases

InterProiIPR008631. Glycogen_synth.
[Graphical view]
PANTHERiPTHR10176. PTHR10176. 1 hit.
PfamiPF05693. Glycogen_syn. 1 hit.
[Graphical view]

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 rs121918423dbSNPEnsembl.1
Natural variantiVAR_055885193A → T.Corresponds to variant rs16924038dbSNPEnsembl.1
Natural variantiVAR_007861339A → P in GSD0. 1 PublicationCorresponds to variant rs121918421dbSNPEnsembl.1
Natural variantiVAR_058848363M → V.4 PublicationsCorresponds to variant rs2306180dbSNPEnsembl.1
Natural variantiVAR_055886415D → E.Corresponds to variant rs16924002dbSNPEnsembl.1
Natural variantiVAR_007862446H → D in GSD0. 1 PublicationCorresponds to variant rs121918425dbSNPEnsembl.1
Natural variantiVAR_007863479P → Q in GSD0. 1 PublicationCorresponds to variant rs121918420dbSNPEnsembl.1
Natural variantiVAR_007864483S → P in GSD0. 1 PublicationCorresponds to variant rs121918424dbSNPEnsembl.1
Natural variantiVAR_007865491M → R in GSD0. 1 PublicationCorresponds to variant rs121918422dbSNPEnsembl.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

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.
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.

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.
GeneCardsiGYS2.
H-InvDBHIX0036868.
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.
OMAiKHVIAQF.
OrthoDBiEOG091G0304.
PhylomeDBiP54840.
TreeFamiTF300306.

Enzyme and pathway databases

UniPathwayiUPA00164.
BioCyciZFISH:HS03451-MONOMER.
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.
PROiP54840.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000111713.
CleanExiHS_GYS2.
GenevisibleiP54840. HS.

Family and domain databases

InterProiIPR008631. Glycogen_synth.
[Graphical view]
PANTHERiPTHR10176. PTHR10176. 1 hit.
PfamiPF05693. Glycogen_syn. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiGYS2_HUMAN
AccessioniPrimary (citable) accession number: P54840
Secondary accession number(s): A0AVD8
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: February 9, 2010
Last modified: November 2, 2016
This is version 151 of the entry and version 2 of the sequence. [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

Allosteric enzyme, Complete proteome, Reference proteome

Documents

  1. Human chromosome 12
    Human chromosome 12: entries, gene names and cross-references to MIM
  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. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.