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Protein

Glycogen [starch] synthase, muscle

Gene

GYS1

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 sitei39UDP-glucoseBy similarity1

GO - Molecular functioni

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

GO - Biological processi

  • glycogen biosynthetic process Source: UniProtKB
  • heart development Source: Ensembl
Complete GO annotation...

Keywords - Molecular functioni

Glycosyltransferase, Transferase

Keywords - Biological processi

Glycogen biosynthesis

Enzyme and pathway databases

BioCyciMetaCyc:HS02622-MONOMER.
ZFISH: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).
R-HSA-3878781. Glycogen storage disease type IV (GBE1).
SIGNORiP13807.
UniPathwayiUPA00164.

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

HGNCiHGNC:4706. GYS1.

Subcellular locationi

GO - Cellular componenti

  • cytosol Source: Reactome
  • inclusion body Source: Ensembl
  • membrane Source: UniProtKB
Complete GO annotation...

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
Initiator methionineiRemovedBy similarity
ChainiPRO_00001947632 – 737Glycogen [starch] synthase, muscleAdd BLAST736

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.

PTM databases

iPTMnetiP13807.
PhosphoSitePlusiP13807.

Expressioni

Gene expression databases

BgeeiENSG00000104812.
CleanExiHS_GYS1.
ExpressionAtlasiP13807. baseline and differential.
GenevisibleiP13807. HS.

Organism-specific databases

HPAiCAB007793.
HPA041598.

Interactioni

Subunit structurei

Interacts with GYG1.1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
AIMP2Q131553EBI-740553,EBI-745226
CCDC36Q8IYA85EBI-740553,EBI-8638439
GSK3BP498413EBI-740553,EBI-373586
GYG1P469767EBI-740553,EBI-740533

GO - Molecular functioni

  • protein kinase binding Source: UniProtKB

Protein-protein interaction databases

BioGridi109252. 32 interactors.
IntActiP13807. 40 interactors.
MINTiMINT-1451793.
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.
OMAiFYGHMDF.
OrthoDBiEOG091G0304.
PhylomeDBiP13807.
TreeFamiTF300306.

Family and domain databases

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

Sequences (2)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

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

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

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 rs5455dbSNPEnsembl.1
Natural variantiVAR_014727130K → E.Corresponds to variant rs5456dbSNPEnsembl.1
Natural variantiVAR_014728283N → S.Corresponds to variant rs5461dbSNPEnsembl.1
Natural variantiVAR_014729359E → G.Corresponds to variant rs5465dbSNPEnsembl.1
Natural variantiVAR_014730416M → V.Corresponds to variant rs5447dbSNPEnsembl.1
Natural variantiVAR_007859464G → S in NIDDM. 1 PublicationCorresponds to variant rs200862074dbSNPEnsembl.1
Natural variantiVAR_014731619E → Q.Corresponds to variant rs5450dbSNPEnsembl.1
Natural variantiVAR_014732691P → A.Corresponds to variant rs5453dbSNPEnsembl.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

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. 32 interactors.
IntActiP13807. 40 interactors.
MINTiMINT-1451793.
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.

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.
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.
OMAiFYGHMDF.
OrthoDBiEOG091G0304.
PhylomeDBiP13807.
TreeFamiTF300306.

Enzyme and pathway databases

UniPathwayiUPA00164.
BioCyciMetaCyc:HS02622-MONOMER.
ZFISH: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).
R-HSA-3878781. Glycogen storage disease type IV (GBE1).
SIGNORiP13807.

Miscellaneous databases

ChiTaRSiGYS1. human.
GenomeRNAii2997.
PROiP13807.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000104812.
CleanExiHS_GYS1.
ExpressionAtlasiP13807. baseline and differential.
GenevisibleiP13807. 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 nameiGYS1_HUMAN
AccessioniPrimary (citable) accession number: P13807
Secondary accession number(s): Q9BTT9
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 1, 1990
Last sequence update: February 1, 1996
Last modified: November 30, 2016
This is version 174 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 19
    Human chromosome 19: 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.