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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

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

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

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

<p>This subsection of the ‘Function’ section describes regulatory mechanisms for enzymes, transporters or microbial transcription factors, and reports the components which regulate (by activation or inhibition) the reaction.<p><a href='/help/activity_regulation' target='_top'>More...</a></p>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

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section describes the metabolic pathway(s) associated with a protein.<p><a href='/help/pathway' target='_top'>More...</a></p>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
<p>This subsection of the ‘Function’ section describes the interaction between a single amino acid and another chemical entity. Priority is given to the annotation of physiological ligands.<p><a href='/help/binding' target='_top'>More...</a></p>Binding sitei39UDP-glucoseBy similarity1

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>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

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionAllosteric enzyme, Glycosyltransferase, Transferase
Biological processGlycogen biosynthesis

Enzyme and pathway databases

BioCyc Collection of Pathway/Genome Databases

More...
BioCyci
MetaCyc:HS02622-MONOMER

BRENDA Comprehensive Enzyme Information System

More...
BRENDAi
2.4.1.11 2681

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-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)

SIGNOR Signaling Network Open Resource

More...
SIGNORi
P13807

UniPathway: a resource for the exploration and annotation of metabolic pathways

More...
UniPathwayi
UPA00164

Protein family/group databases

Carbohydrate-Active enZymes

More...
CAZyi
GT3 Glycosyltransferase Family 3

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Glycogen [starch] synthase, muscle (EC:2.4.1.11)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:GYS1
Synonyms:GYS
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 19

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000104812.14

Human Gene Nomenclature Database

More...
HGNCi
HGNC:4706 GYS1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
138570 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_P13807

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>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

DisGeNET

More...
DisGeNETi
2997

MalaCards human disease database

More...
MalaCardsi
GYS1
MIMi611556 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000104812

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
137625 Glycogen storage disease due to muscle and heart glycogen synthase deficiency

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA29084

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...
ChEMBLi
CHEMBL4000

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
GYS1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
1351366

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001947631 – 737Glycogen [starch] synthase, muscleAdd BLAST737

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>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

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>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

Encyclopedia of Proteome Dynamics

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EPDi
P13807

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
P13807

MaxQB - The MaxQuant DataBase

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MaxQBi
P13807

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
P13807

PeptideAtlas

More...
PeptideAtlasi
P13807

PRoteomics IDEntifications database

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PRIDEi
P13807

ProteomicsDB human proteome resource

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ProteomicsDBi
52994
52995 [P13807-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
P13807

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
P13807

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000104812 Expressed in 200 organ(s), highest expression level in muscle of leg

CleanEx database of gene expression profiles

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CleanExi
HS_GYS1

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
P13807 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
P13807 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
CAB007793
HPA041598

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with GYG1.1 Publication

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
109252, 39 interactors

Protein interaction database and analysis system

More...
IntActi
P13807, 67 interactors

Molecular INTeraction database

More...
MINTi
P13807

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000317904

Chemistry databases

BindingDB database of measured binding affinities

More...
BindingDBi
P13807

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
P13807

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
P13807

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the glycosyltransferase 3 family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG3742 Eukaryota
COG0438 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00390000018612

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000160890

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG001960

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
P13807

KEGG Orthology (KO)

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KOi
K00693

Identification of Orthologs from Complete Genome Data

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OMAi
GHFYGHM

Database of Orthologous Groups

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OrthoDBi
264593at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
P13807

TreeFam database of animal gene trees

More...
TreeFami
TF300306

Family and domain databases

Conserved Domains Database

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CDDi
cd03793 GT1_Glycogen_synthase_GSY2_lik, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR008631 Glycogen_synth

The PANTHER Classification System

More...
PANTHERi
PTHR10176 PTHR10176, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF05693 Glycogen_syn, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> 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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>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:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>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
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>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
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_042745101 – 164Missing in isoform 2. 1 PublicationAdd BLAST64

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
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

The Consensus CDS (CCDS) project

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CCDSi
CCDS12747.1 [P13807-1]
CCDS54292.1 [P13807-2]

Protein sequence database of the Protein Information Resource

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PIRi
A32156

NCBI Reference Sequences

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RefSeqi
NP_001155059.1, NM_001161587.1 [P13807-2]
NP_002094.2, NM_002103.4 [P13807-1]

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.386225

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000263276; ENSP00000263276; ENSG00000104812 [P13807-2]
ENST00000323798; ENSP00000317904; ENSG00000104812 [P13807-1]

Database of genes from NCBI RefSeq genomes

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GeneIDi
2997

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:2997

UCSC genome browser

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UCSCi
uc002plp.4 human [P13807-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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, 39 interactors
IntActiP13807, 67 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
jPOSTiP13807
MaxQBiP13807
PaxDbiP13807
PeptideAtlasiP13807
PRIDEiP13807
ProteomicsDBi52994
52995 [P13807-2]

Protocols and materials databases

The DNASU plasmid repository

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DNASUi
2997
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

Comparative Toxicogenomics Database

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CTDi
2997
DisGeNETi2997
EuPathDBiHostDB:ENSG00000104812.14

GeneCards: human genes, protein and diseases

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GeneCardsi
GYS1
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

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG3742 Eukaryota
COG0438 LUCA
GeneTreeiENSGT00390000018612
HOGENOMiHOG000160890
HOVERGENiHBG001960
InParanoidiP13807
KOiK00693
OMAiGHFYGHM
OrthoDBi264593at2759
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

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
GYS1 human

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
2997

Protein Ontology

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PROi
PR:P13807

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

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

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiGYS1_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: P13807
Secondary accession number(s): Q9BTT9
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 1, 1990
Last sequence update: February 1, 1996
Last modified: January 16, 2019
This is version 190 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>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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