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UniProtKB - P46976 (GLYG_HUMAN)

Protein

Glycogenin-1

Gene

GYG1

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

Self-glucosylates, via an inter-subunit mechanism, to form an oligosaccharide primer that serves as substrate for glycogen synthase.2 Publications

<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 provides information relevant to cofactors. A cofactor is any non-protein substance required for a protein to be catalytically active. Some cofactors are inorganic, such as the metal atoms zinc, iron, and copper in various oxidation states. Others, such as most vitamins, are organic.<p><a href='/help/cofactor' target='_top'>More...</a></p>Cofactori

Mn2+2 PublicationsNote: Divalent metal ions. Required for self-glucosylation. Manganese is the most effective.

<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

Inhibited by palladium ions.1 Publication

<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.2 Publications
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 sitei77SubstrateCombined sources1 Publication1
<p>This subsection describes interesting single amino acid sites on the sequence that are not defined in any other subsection. This subsection can be displayed in different sections (‘Function’, ‘PTM / Processing’, ‘Pathology and Biotech’) according to its content.<p><a href='/help/site' target='_top'>More...</a></p>Sitei86Important for catalytic activityBy similarity1
<p>This subsection of the ‘Function’ section indicates at which position the protein binds a given metal ion. The nature of the metal is indicated in the ‘Description’ field.<p><a href='/help/metal' target='_top'>More...</a></p>Metal bindingi102ManganeseCombined sources2 Publications1
Metal bindingi104ManganeseCombined sources2 Publications1
Metal bindingi212ManganeseCombined sources2 Publications1

<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

View the complete GO annotation on QuickGO ...

GO - Biological processi

  • glycogen biosynthetic process Source: UniProtKB
  • neutrophil degranulation Source: Reactome
View the complete GO annotation on QuickGO ...

<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 functionTransferase
Biological processGlycogen biosynthesis
LigandManganese, Metal-binding

Enzyme and pathway databases

BioCyc Collection of Pathway/Genome Databases

More...BioCyci		MetaCyc:HS08931-MONOMER

BRENDA Comprehensive Enzyme Information System

More...BRENDAi		2.4.1.186 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)
R-HSA-5357609 Glycogen storage disease type II (GAA)
R-HSA-6798695 Neutrophil degranulation
R-HSA-70221 Glycogen breakdown (glycogenolysis)

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

More...UniPathwayi
UPA00164

Protein family/group databases

Carbohydrate-Active enZymes

More...CAZyi		GT8 Glycosyltransferase Family 8

<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:
Glycogenin-1 (EC:2.4.1.1862 Publications)
Short name:
GN-1
Short name:
GN1
<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:GYG1
Synonyms:GYG
<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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<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 3

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...EuPathDBi		HostDB:ENSG00000163754.17

Human Gene Nomenclature Database

More...HGNCi		HGNC:4699 GYG1

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		603942 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_P46976

<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

Glycogen storage disease 15 (GSD15)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA metabolic disorder resulting in muscle weakness, associated with the glycogen depletion in skeletal muscle, and cardiac arrhythmia, associated with the accumulation of abnormal storage material in the heart. The skeletal muscle shows a marked predominance of slow-twitch, oxidative muscle fibers and mitochondrial proliferation.
See also OMIM:613507
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_06376883T → M in GSD15; loss of autoglucosylation. 2 PublicationsCorresponds to variant dbSNP:rs267606858EnsemblClinVar.1
Polyglucosan body myopathy 2 (PGBM2)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA glycogen storage disease characterized by polyglucosan accumulation in muscle, and skeletal myopathy without cardiac involvement. Most patients manifest slowly progressive, hip girdle, shoulder girdle, and/or hand and leg muscle weakness. Polyglucosan contains abnormally long and poorly branched glucosyl chains and is variably resistant to digestion by alpha-amylase.
See also OMIM:616199
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07270616A → P in PGBM2. 1 PublicationCorresponds to variant dbSNP:rs200947378Ensembl.1
Natural variantiVAR_072707102D → H in PGBM2. 1 PublicationCorresponds to variant dbSNP:rs143137713EnsemblClinVar.1

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>Mutagenesisi195Y → F: Loss of glucosylation. 1 Publication1

Keywords - Diseasei

Disease mutation, Glycogen storage disease

Organism-specific databases

DisGeNET

More...DisGeNETi		2992

MalaCards human disease database

More...MalaCardsi		GYG1
MIMi613507 phenotype
616199 phenotype

Open Targets

More...OpenTargetsi		ENSG00000163754

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

More...Orphaneti		263297 Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency
456369 Polyglucosan body myopathy type 2

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA29077

Chemistry databases

Drug and drug target database

More...DrugBanki		DB01861 Uridine diphosphate glucose
DB03435 Uridine-5'-Diphosphate

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		GYG1

<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 <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section indicates that the initiator methionine is cleaved from the mature protein.<p><a href='/help/init_met' target='_top'>More...</a></p>Initiator methionineiRemovedCombined sources
<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_00002151762 – 350Glycogenin-1CuratedAdd BLAST349

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 residuei2N-acetylthreonineCombined sources1
Modified residuei44PhosphoserineBy similarity1
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi195O-linked (Glc...) tyrosineCombined sources2 Publications1

<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

Self-glycosylated by the transfer of glucose residues from UDP-glucose to itself, forming an alpha-1,4-glycan of around 10 residues attached to Tyr-195.2 Publications
Phosphorylated.By similarity

Keywords - PTMi

Acetylation, Glycoprotein, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		P46976

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		P46976

MaxQB - The MaxQuant DataBase

More...MaxQBi		P46976

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

More...PaxDbi		P46976

PeptideAtlas

More...PeptideAtlasi		P46976

PRoteomics IDEntifications database

More...PRIDEi		P46976

ProteomicsDB human proteome resource

More...ProteomicsDBi		55779
55780 [P46976-2]
55781 [P46976-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		P46976

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

More...PhosphoSitePlusi		P46976

<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

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Highly expressed in skeletal muscle and heart, with lower levels in brain, lung, kidney and pancreas.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000163754 Expressed in 242 organ(s), highest expression level in deltoid

CleanEx database of gene expression profiles

More...CleanExi		HS_GYG1

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		P46976 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		P46976 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		HPA030497

<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

Homodimer (PubMed:22160680). Interacts (via C-terminus) with glycogen synthase GYS1 (PubMed:17055998). Interacts (via C-terminus) with glycogen synthase GYS2 (By similarity). This interaction is required for GYS2-mediated glycogen synthesis (By similarity).By similarity2 Publications

<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

WithEntry#Exp.IntActNotes
GYS1P138077EBI-740533,EBI-740553

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		109247, 20 interactors

Protein interaction database and analysis system

More...IntActi		P46976, 15 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000340736

<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

Secondary structure

1350
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3Q4SX-ray1.98A1-262[»]
3QVBX-ray2.26A1-262[»]
3RMVX-ray1.82A1-262[»]
3RMWX-ray1.93A1-262[»]
3T7MX-ray1.80A/B1-262[»]
3T7NX-ray1.98A/B1-262[»]
3T7OX-ray1.85A/B1-262[»]
3U2TX-ray2.05A1-262[»]
3U2UX-ray1.45A/B1-262[»]
3U2VX-ray1.50A/B1-262[»]
3U2WX-ray1.68A/B1-262[»]
3U2XX-ray1.77A/B1-262[»]
6EQJX-ray2.18A1-262[»]
6EQLX-ray2.38A/B1-262[»]

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...ProteinModelPortali		P46976

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

More...SMRi		P46976

Database of comparative protein structure models

More...ModBasei		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...EvolutionaryTracei		P46976

<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

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni9 – 15Substrate bindingCombined sources2 Publications7
Regioni102 – 104Substrate bindingCombined sources1 Publication3
Regioni133 – 135Substrate bindingCombined sources1 Publication3
Regioni160 – 164Substrate bindingCombined sources1 Publication5
Regioni212 – 218Substrate bindingCombined sources2 Publications7
Regioni301 – 333Interaction with GYS11 PublicationAdd BLAST33

<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 8 family. Glycogenin subfamily.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG1950 Eukaryota
COG5597 LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00940000154674

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		HOG000008282

The HOVERGEN Database of Homologous Vertebrate Genes

More...HOVERGENi		HBG000681

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		P46976

KEGG Orthology (KO)

More...KOi		K00750

Identification of Orthologs from Complete Genome Data

More...OMAi		QHRTTRK

Database of Orthologous Groups

More...OrthoDBi		1424146at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		P46976

TreeFam database of animal gene trees

More...TreeFami		TF312839

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		3.90.550.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR002495 Glyco_trans_8
IPR029044 Nucleotide-diphossugar_trans

Pfam protein domain database

More...Pfami		View protein in Pfam
PF01501 Glyco_transf_8, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF53448 SSF53448, 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 (3+)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.

<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 in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 3 <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 3 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All

Isoform GN-1L (identifier: P46976-1) [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
MTDQAFVTLT TNDAYAKGAL VLGSSLKQHR TTRRLVVLAT PQVSDSMRKV 
        60         70         80         90        100
LETVFDEVIM VDVLDSGDSA HLTLMKRPEL GVTLTKLHCW SLTQYSKCVF 
       110        120        130        140        150
MDADTLVLAN IDDLFDREEL SAAPDPGWPD CFNSGVFVYQ PSVETYNQLL 
       160        170        180        190        200
HLASEQGSFD GGDQGILNTF FSSWATTDIR KHLPFIYNLS SISIYSYLPA 
       210        220        230        240        250
FKVFGASAKV VHFLGRVKPW NYTYDPKTKS VKSEAHDPNM THPEFLILWW 
       260        270        280        290        300
NIFTTNVLPL LQQFGLVKDT CSYVNVLSDL VYTLAFSCGF CRKEDVSGAI 
       310        320        330        340        350
SHLSLGEIPA MAQPFVSSEE RKERWEQGQA DYMGADSFDN IKRKLDTYLQ
Length:350
Mass (Da):39,384
Last modified:January 23, 2007 - v4
<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:iABAEEB7160DEC4DF
GO
Isoform GN-1 (identifier: P46976-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     277-293: Missing.

Show »
Length:333
Mass (Da):37,479
Checksum:iCD5E3C16F849FF7C
GO
Isoform GN-1S (identifier: P46976-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     204-350: FGASAKVVHF...IKRKLDTYLQ → KMSQEPYHIC...IHFTSLVSDT

Show »
Length:279
Mass (Da):31,467
Checksum:iF8AD62431CBB470E
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 are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
G5E9W8G5E9W8_HUMAN
Glycogenin 1, isoform CRA_e
GYG1 hCG_21210
193Annotation score:

Annotation score:1 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>
C9JQ42C9JQ42_HUMAN
Glycogenin-1
GYG1
265Annotation score:

Annotation score:1 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>
C9J7C7C9J7C7_HUMAN
Glycogenin-1
GYG1
110Annotation score:

Annotation score:1 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>
C9J8R8C9J8R8_HUMAN
Glycogenin-1
GYG1
60Annotation score:

Annotation score:1 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>

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07270616A → P in PGBM2. 1 PublicationCorresponds to variant dbSNP:rs200947378Ensembl.1
Natural variantiVAR_06376883T → M in GSD15; loss of autoglucosylation. 2 PublicationsCorresponds to variant dbSNP:rs267606858EnsemblClinVar.1
Natural variantiVAR_072707102D → H in PGBM2. 1 PublicationCorresponds to variant dbSNP:rs143137713EnsemblClinVar.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_001768204 – 350FGASA…DTYLQ → KMSQEPYHICPLGRSQLWHS RLYPRKNGRNDGNRARLIIW EQIPLTTSRGNLTLTSSRNT AFFCEHIHFTSLVSDT in isoform GN-1S. CuratedAdd BLAST147
Alternative sequenceiVSP_001769277 – 293Missing in isoform GN-1. 4 PublicationsAdd BLAST17

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
U44131 mRNA Translation: AAB00114.1
U31525 mRNA Translation: AAB09752.1
X79537 mRNA Translation: CAA56073.1
AF065481
, AF065476, AF065477, AF065478, AF065479, AF065480 Genomic DNA Translation: AAD31084.1
AF087942 mRNA Translation: AAD52093.1
CR536547 mRNA Translation: CAG38784.1
AC021059 Genomic DNA No translation available.
CH471052 Genomic DNA Translation: EAW78894.1
CH471052 Genomic DNA Translation: EAW78895.1
CH471052 Genomic DNA Translation: EAW78896.1
CH471052 Genomic DNA Translation: EAW78898.1
CH471052 Genomic DNA Translation: EAW78900.1
CH471052 Genomic DNA Translation: EAW78901.1
BC000033 mRNA Translation: AAH00033.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS3139.1 [P46976-1]
CCDS54654.1 [P46976-2]
CCDS54655.1 [P46976-3]

Protein sequence database of the Protein Information Resource

More...PIRi		JC4695

NCBI Reference Sequences

More...RefSeqi		NP_001171649.1, NM_001184720.1 [P46976-2]
NP_001171650.1, NM_001184721.1 [P46976-3]
NP_004121.2, NM_004130.3 [P46976-1]

UniGene gene-oriented nucleotide sequence clusters

More...UniGenei		Hs.477892

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000296048; ENSP00000296048; ENSG00000163754 [P46976-2]
ENST00000345003; ENSP00000340736; ENSG00000163754 [P46976-1]
ENST00000484197; ENSP00000420683; ENSG00000163754 [P46976-3]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		2992

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:2992

UCSC genome browser

More...UCSCi		uc003ewn.4 human [P46976-1]

Keywords - Coding sequence diversityi

Alternative splicing

<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
U44131 mRNA Translation: AAB00114.1
U31525 mRNA Translation: AAB09752.1
X79537 mRNA Translation: CAA56073.1
AF065481
, AF065476, AF065477, AF065478, AF065479, AF065480 Genomic DNA Translation: AAD31084.1
AF087942 mRNA Translation: AAD52093.1
CR536547 mRNA Translation: CAG38784.1
AC021059 Genomic DNA No translation available.
CH471052 Genomic DNA Translation: EAW78894.1
CH471052 Genomic DNA Translation: EAW78895.1
CH471052 Genomic DNA Translation: EAW78896.1
CH471052 Genomic DNA Translation: EAW78898.1
CH471052 Genomic DNA Translation: EAW78900.1
CH471052 Genomic DNA Translation: EAW78901.1
BC000033 mRNA Translation: AAH00033.1
CCDSiCCDS3139.1 [P46976-1]
CCDS54654.1 [P46976-2]
CCDS54655.1 [P46976-3]
PIRiJC4695
RefSeqiNP_001171649.1, NM_001184720.1 [P46976-2]
NP_001171650.1, NM_001184721.1 [P46976-3]
NP_004121.2, NM_004130.3 [P46976-1]
UniGeneiHs.477892

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3Q4SX-ray1.98A1-262[»]
3QVBX-ray2.26A1-262[»]
3RMVX-ray1.82A1-262[»]
3RMWX-ray1.93A1-262[»]
3T7MX-ray1.80A/B1-262[»]
3T7NX-ray1.98A/B1-262[»]
3T7OX-ray1.85A/B1-262[»]
3U2TX-ray2.05A1-262[»]
3U2UX-ray1.45A/B1-262[»]
3U2VX-ray1.50A/B1-262[»]
3U2WX-ray1.68A/B1-262[»]
3U2XX-ray1.77A/B1-262[»]
6EQJX-ray2.18A1-262[»]
6EQLX-ray2.38A/B1-262[»]
ProteinModelPortaliP46976
SMRiP46976
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi109247, 20 interactors
IntActiP46976, 15 interactors
STRINGi9606.ENSP00000340736

Chemistry databases

DrugBankiDB01861 Uridine diphosphate glucose
DB03435 Uridine-5'-Diphosphate

Protein family/group databases

CAZyiGT8 Glycosyltransferase Family 8

PTM databases

iPTMnetiP46976
PhosphoSitePlusiP46976

Polymorphism and mutation databases

BioMutaiGYG1

Proteomic databases

EPDiP46976
jPOSTiP46976
MaxQBiP46976
PaxDbiP46976
PeptideAtlasiP46976
PRIDEiP46976
ProteomicsDBi55779
55780 [P46976-2]
55781 [P46976-3]

Protocols and materials databases

The DNASU plasmid repository

More...DNASUi		2992
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000296048; ENSP00000296048; ENSG00000163754 [P46976-2]
ENST00000345003; ENSP00000340736; ENSG00000163754 [P46976-1]
ENST00000484197; ENSP00000420683; ENSG00000163754 [P46976-3]
GeneIDi2992
KEGGihsa:2992
UCSCiuc003ewn.4 human [P46976-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		2992
DisGeNETi2992
EuPathDBiHostDB:ENSG00000163754.17

GeneCards: human genes, protein and diseases

More...GeneCardsi		GYG1
HGNCiHGNC:4699 GYG1
HPAiHPA030497
MalaCardsiGYG1
MIMi603942 gene
613507 phenotype
616199 phenotype
neXtProtiNX_P46976
OpenTargetsiENSG00000163754
Orphaneti263297 Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency
456369 Polyglucosan body myopathy type 2
PharmGKBiPA29077

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG1950 Eukaryota
COG5597 LUCA
GeneTreeiENSGT00940000154674
HOGENOMiHOG000008282
HOVERGENiHBG000681
InParanoidiP46976
KOiK00750
OMAiQHRTTRK
OrthoDBi1424146at2759
PhylomeDBiP46976
TreeFamiTF312839

Enzyme and pathway databases

UniPathwayi
UPA00164

BioCyciMetaCyc:HS08931-MONOMER
BRENDAi2.4.1.186 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-5357609 Glycogen storage disease type II (GAA)
R-HSA-6798695 Neutrophil degranulation
R-HSA-70221 Glycogen breakdown (glycogenolysis)

Miscellaneous databases

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

More...ChiTaRSi		GYG1 human
EvolutionaryTraceiP46976

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

More...GenomeRNAii		2992

Protein Ontology

More...PROi		PR:P46976

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000163754 Expressed in 242 organ(s), highest expression level in deltoid
CleanExiHS_GYG1
ExpressionAtlasiP46976 baseline and differential
GenevisibleiP46976 HS

Family and domain databases

Gene3Di3.90.550.10, 1 hit
InterProiView protein in InterPro
IPR002495 Glyco_trans_8
IPR029044 Nucleotide-diphossugar_trans
PfamiView protein in Pfam
PF01501 Glyco_transf_8, 1 hit
SUPFAMiSSF53448 SSF53448, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...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 nameiGLYG_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: P46976
Secondary accession number(s): D3DNH0
, D3DNH1, D3DNH2, Q6FHZ1, Q9UNV0
<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: November 1, 1995
Last sequence update: January 23, 2007
Last modified: January 16, 2019
This is version 175 of the entry and version 4 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

3D-structure, 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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  7. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
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