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Entry version 178 (22 Apr 2020)
Sequence version 2 (29 Aug 2001)
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Protein

UDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferase

Gene

DPAGT1

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

Catalyzes the initial step of dolichol-linked oligosaccharide biosynthesis in N-linked protein glycosylation pathway: transfers GlcNAc-1-P from UDP-GlcNAc onto the carrier lipid dolichyl phosphate (P-dolichol), yielding GlcNAc-P-P-dolichol.3 Publications

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">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

Mg2+2 Publications

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> 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

Activated by mannosylphosphoryldolichol and phospholipids such as phosphatidylglycerol and phosphatidylcholine (Probable). Inhibited by natural nucleoside antibiotic tunicamycin, which acts as a structural analog and competitor of UDP-GlcNAc (PubMed:9451016, PubMed:29459785, PubMed:30388443).1 Publication3 Publications

<p>This subsection of the 'Function' section describes biophysical and chemical properties, such as maximal absorption, kinetic parameters, pH dependence, redox potentials and temperature dependence.<p><a href='/help/biophysicochemical_properties' target='_top'>More...</a></p>Kineticsi

kcat is 0.21 min(-1) with UDP-N-acetylglucosamine. kcat is 0.20 min(-1) with dolichol phosphate.1 Publication
  1. KM=4.5 µM for UDP-N-acetylglucosamine1 Publication
  2. KM=36 µM for dolichol phosphate1 Publication

    <p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section describes the metabolic pathway(s) associated with a protein.<p><a href='/help/pathway' target='_top'>More...</a></p>Pathwayi: protein glycosylation

    This protein is involved in the pathway protein glycosylation, which is part of Protein modification.3 Publications
    View all proteins of this organism that are known to be involved in the pathway protein glycosylation and in Protein modification.

    Sites

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> 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 sitei46Inhibitor; via amide nitrogenCombined sources1 Publication1
    Binding sitei56UDP-N-acetylglucosamine1 Publication1
    Binding sitei119InhibitorCombined sources1 Publication1
    Binding sitei125Dolichol phosphate1 Publication1
    <p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> 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 bindingi185MagnesiumCombined sources1 Publication1
    Binding sitei185InhibitorCombined sources1 Publication1
    Binding sitei191UDP-N-acetylglucosamine1 Publication1
    Metal bindingi252MagnesiumCombined sources1 Publication1
    Binding sitei252InhibitorCombined sources1 Publication1
    Binding sitei303InhibitorCombined sources1 Publication1

    <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

    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 functionGlycosyltransferase, Transferase
    LigandMagnesium, Metal-binding

    Enzyme and pathway databases

    Reactome - a knowledgebase of biological pathways and processes

    More...
    Reactomei
    R-HSA-446193 Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
    R-HSA-4549356 Defective DPAGT1 causes DPAGT1-CDG (CDG-1j) and CMSTA2

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

    More...
    UniPathwayi
    UPA00378

    <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%5Fand%5Ftaxonomy%5Fsection">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:
    UDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferase (EC:2.7.8.153 Publications)
    Alternative name(s):
    GlcNAc-1-P transferase1 Publication
    Short name:
    G1PT
    Short name:
    GPT1 Publication
    N-acetylglucosamine-1-phosphate transferase
    <p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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:DPAGT13 PublicationsImported
    Synonyms:DPAGT2
    <p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fmanual">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 11

    Organism-specific databases

    Human Gene Nomenclature Database

    More...
    HGNCi
    HGNC:2995 DPAGT1

    Online Mendelian Inheritance in Man (OMIM)

    More...
    MIMi
    191350 gene

    neXtProt; the human protein knowledge platform

    More...
    neXtProti
    NX_Q9H3H5

    <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 & Seán O’Donoghue; Source: COMPARTMENTS

    Topology

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini1 – 10Lumenal1 Publication10
    <p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei11 – 38Helical; Name=Helix 11 PublicationAdd BLAST28
    Topological domaini39 – 58Cytoplasmic1 PublicationAdd BLAST20
    Transmembranei59 – 78Helical; Name=Helix 21 PublicationAdd BLAST20
    Topological domaini79 – 91Lumenal1 PublicationAdd BLAST13
    Transmembranei92 – 118Helical; Name=Helix 31 PublicationAdd BLAST27
    Topological domaini119 – 121Cytoplasmic1 Publication3
    Transmembranei122 – 143Helical; Name=Helix 41 PublicationAdd BLAST22
    Topological domaini144 – 166Lumenal1 PublicationAdd BLAST23
    Transmembranei167 – 186Helical; Name=Helix 51 PublicationAdd BLAST20
    Topological domaini187 – 192Cytoplasmic1 Publication6
    Transmembranei193 – 213Helical; Name=Helix 61 PublicationAdd BLAST21
    Topological domaini214 – 218Lumenal1 Publication5
    Transmembranei219 – 242Helical; Name=Helix 71 PublicationAdd BLAST24
    Topological domaini243 – 250Cytoplasmic1 Publication8
    Transmembranei251 – 269Helical; Name=Helix 81 PublicationAdd BLAST19
    Topological domaini270 – 271Lumenal1 Publication2
    Transmembranei272 – 293Helical; Name=Helix 91 PublicationAdd BLAST22
    Topological domaini294 – 375Cytoplasmic1 PublicationAdd BLAST82
    Transmembranei376 – 400Helical; Name=Helix 101 PublicationAdd BLAST25
    Topological domaini401 – 408Lumenal1 Publication8

    Keywords - Cellular componenti

    Endoplasmic reticulum, Membrane

    <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

    Congenital disorder of glycosylation 1J (CDG1J)2 Publications
    The disease is caused by mutations affecting the gene represented in this entry.
    Disease descriptionA form of congenital disorder of glycosylation, a multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions.
    Related information in OMIM
    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_017243170Y → C in CDG1J; strongly reduced enzyme activity. 2 PublicationsCorresponds to variant dbSNP:rs28934876EnsemblClinVar.1
    Myasthenic syndrome, congenital, 13 (CMS13)2 Publications
    The disease is caused by mutations affecting the gene represented in this entry.
    Disease descriptionA form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre-synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness. CMS13 is characterized by muscle weakness mostly affecting proximal limb muscles, minimal involvement of facial, ocular and bulbar muscles, and tubular aggregates present on muscle biopsy. Symptoms include difficulty walking and frequent falls. Younger patients show hypotonia and poor head control. Neurophysiological features indicate a disorder of neuromuscular transmission on electromyography.
    Related information in OMIM
    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Natural variantiVAR_068810108M → I in CMS13; strongly reduced enzyme activity. 2 PublicationsCorresponds to variant dbSNP:rs376039938EnsemblClinVar.1
    Natural variantiVAR_068811117V → I in CMS13; mildly reduced enzyme activity. 2 PublicationsCorresponds to variant dbSNP:rs387907243EnsemblClinVar.1
    Natural variantiVAR_068812120L → M in CMS13; strongly reduced enzyme activity. 2 PublicationsCorresponds to variant dbSNP:rs387907244EnsemblClinVar.1
    Natural variantiVAR_068813160G → S in CMS13; increased enzyme activity. 2 PublicationsCorresponds to variant dbSNP:rs762676399Ensembl.1
    Natural variantiVAR_068814192G → S in CMS13; strongly reduced enzyme activity. 2 PublicationsCorresponds to variant dbSNP:rs768464558Ensembl.1
    Natural variantiVAR_068815264V → G in CMS13; increased enzyme activity. 2 PublicationsCorresponds to variant dbSNP:rs387907245EnsemblClinVar.1

    Mutagenesis

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'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>Mutagenesisi30P → S: Mildly reduced enzyme activity. 1 Publication1
    Mutagenesisi69I → N: No significant effect on enzyme activity. 1 Publication1
    Mutagenesisi103L → F: Impairs protein stability. 1 Publication1
    Mutagenesisi114A → G: No significant effect on enzyme activity. 1 Publication1
    Mutagenesisi115D → A or N: Strongly reduced enzyme activity. 1 Publication1
    Mutagenesisi115D → E: Mildly reduced enzyme activity. 1 Publication1
    Mutagenesisi116D → A or N: Strongly reduced enzyme activity. 1 Publication1
    Mutagenesisi122W → A: Strongly reduced enzyme activity. 1 Publication1
    Mutagenesisi125K → A, E or N: Loss of enzyme activity. 1 Publication1
    Mutagenesisi168L → P: Strongly reduced enzyme activity. 1 Publication1
    Mutagenesisi182N → A: Loss of enzyme activity. 1 Publication1
    Mutagenesisi185N → A or D: Loss of enzyme activity. 1 Publication1
    Mutagenesisi252D → A: Reduces binding to inhibitor. Nearly abolishes enzyme activity. 2 Publications1
    Mutagenesisi264V → M: No significant effect on enzyme activity. 1 Publication1
    Mutagenesisi301R → C or H: Loss of enzyme activity. 1 Publication1
    Mutagenesisi302H → A: Loss of enzyme activity. 1 Publication1
    Mutagenesisi303R → A: Reduced enzyme activity. 1 Publication1
    Mutagenesisi385L → R: No significant effect on enzyme activity. 1 Publication1

    Keywords - Diseasei

    Congenital disorder of glycosylation, Congenital myasthenic syndrome, Disease mutation

    Organism-specific databases

    DisGeNET

    More...
    DisGeNETi
    1798

    GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

    More...
    GeneReviewsi
    DPAGT1

    MalaCards human disease database

    More...
    MalaCardsi
    DPAGT1
    MIMi608093 phenotype
    614750 phenotype

    Open Targets

    More...
    OpenTargetsi
    ENSG00000172269

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

    More...
    Orphaneti
    353327 Congenital myasthenic syndromes with glycosylation defect
    86309 DPAGT1-CDG

    The Pharmacogenetics and Pharmacogenomics Knowledge Base

    More...
    PharmGKBi
    PA27460

    Miscellaneous databases

    Pharos NIH Druggable Genome Knowledgebase

    More...
    Pharosi
    Q9H3H5 Tbio

    Polymorphism and mutation databases

    BioMuta curated single-nucleotide variation and disease association database

    More...
    BioMutai
    DPAGT1

    Domain mapping of disease mutations (DMDM)

    More...
    DMDMi
    18202943

    <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 or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001087611 – 408UDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferaseAdd BLAST408

    Amino acid modifications

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">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>Glycosylationi146N-linked (GlcNAc...) asparagineSequence analysis1

    Keywords - PTMi

    Glycoprotein

    Proteomic databases

    Encyclopedia of Proteome Dynamics

    More...
    EPDi
    Q9H3H5

    jPOST - Japan Proteome Standard Repository/Database

    More...
    jPOSTi
    Q9H3H5

    MassIVE - Mass Spectrometry Interactive Virtual Environment

    More...
    MassIVEi
    Q9H3H5

    MaxQB - The MaxQuant DataBase

    More...
    MaxQBi
    Q9H3H5

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

    More...
    PaxDbi
    Q9H3H5

    PeptideAtlas

    More...
    PeptideAtlasi
    Q9H3H5

    PRoteomics IDEntifications database

    More...
    PRIDEi
    Q9H3H5

    ProteomicsDB: a multi-organism proteome resource

    More...
    ProteomicsDBi
    80717 [Q9H3H5-1]
    80718 [Q9H3H5-2]
    80719 [Q9H3H5-3]

    PTM databases

    iPTMnet integrated resource for PTMs in systems biology context

    More...
    iPTMneti
    Q9H3H5

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

    More...
    PhosphoSitePlusi
    Q9H3H5

    <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

    More...
    Bgeei
    ENSG00000172269 Expressed in right lobe of liver and 206 other tissues

    ExpressionAtlas, Differential and Baseline Expression

    More...
    ExpressionAtlasi
    Q9H3H5 baseline and differential

    Genevisible search portal to normalized and curated expression data from Genevestigator

    More...
    Genevisiblei
    Q9H3H5 HS

    Organism-specific databases

    Human Protein Atlas

    More...
    HPAi
    ENSG00000172269 Low tissue specificity

    <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%5Fsection">'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%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

    Homodimer.

    2 Publications

    GO - Molecular functioni

    Protein-protein interaction databases

    The Biological General Repository for Interaction Datasets (BioGrid)

    More...
    BioGridi
    108133, 12 interactors

    Protein interaction database and analysis system

    More...
    IntActi
    Q9H3H5, 9 interactors

    STRING: functional protein association networks

    More...
    STRINGi
    9606.ENSP00000386597

    Miscellaneous databases

    RNAct, Protein-RNA interaction predictions for model organisms.

    More...
    RNActi
    Q9H3H5 protein

    <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

    1408
    Legend: HelixTurnBeta strandPDB Structure known for this area
    Show more details

    3D structure databases

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

    More...
    SMRi
    Q9H3H5

    Database of comparative protein structure models

    More...
    ModBasei
    Search...

    Protein Data Bank in Europe - Knowledge Base

    More...
    PDBe-KBi
    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

    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>Regioni44 – 46UDP-N-acetylglucosamine binding1 Publication3
    Regioni178 – 186Dolichol phosphate binding1 Publication9
    Regioni301 – 303UDP-N-acetylglucosamine binding1 Publication3

    <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 4 family.Curated

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    evolutionary genealogy of genes: Non-supervised Orthologous Groups

    More...
    eggNOGi
    KOG2788 Eukaryota
    COG0472 LUCA

    Ensembl GeneTree

    More...
    GeneTreei
    ENSGT00390000011424

    The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

    More...
    HOGENOMi
    CLU_029942_0_1_1

    InParanoid: Eukaryotic Ortholog Groups

    More...
    InParanoidi
    Q9H3H5

    KEGG Orthology (KO)

    More...
    KOi
    K01001

    Identification of Orthologs from Complete Genome Data

    More...
    OMAi
    VTFSIRY

    Database of Orthologous Groups

    More...
    OrthoDBi
    1079130at2759

    Database for complete collections of gene phylogenies

    More...
    PhylomeDBi
    Q9H3H5

    TreeFam database of animal gene trees

    More...
    TreeFami
    TF313734

    Family and domain databases

    Conserved Domains Database

    More...
    CDDi
    cd06855 GT_GPT_euk, 1 hit

    Integrated resource of protein families, domains and functional sites

    More...
    InterProi
    View protein in InterPro
    IPR000715 Glycosyl_transferase_4
    IPR033895 GPT

    The PANTHER Classification System

    More...
    PANTHERi
    PTHR10571 PTHR10571, 1 hit

    Pfam protein domain database

    More...
    Pfami
    View protein in Pfam
    PF00953 Glycos_transf_4, 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%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<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%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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 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. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<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 8 potential isoforms that are computationally mapped.Show allAlign All

    Isoform 1 (identifier: Q9H3H5-1) [UniParc]FASTAAdd to basket

    This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
    MWAFSELPMP LLINLIVSLL GFVATVTLIP AFRGHFIAAR LCGQDLNKTS
    60 70 80 90 100
    RQQIPESQGV ISGAVFLIIL FCFIPFPFLN CFVKEQCKAF PHHEFVALIG
    110 120 130 140 150
    ALLAICCMIF LGFADDVLNL RWRHKLLLPT AASLPLLMVY FTNFGNTTIV
    160 170 180 190 200
    VPKPFRPILG LHLDLGILYY VYMGLLAVFC TNAINILAGI NGLEAGQSLV
    210 220 230 240 250
    ISASIIVFNL VELEGDCRDD HVFSLYFMIP FFFTTLGLLY HNWYPSRVFV
    260 270 280 290 300
    GDTFCYFAGM TFAVVGILGH FSKTMLLFFM PQVFNFLYSL PQLLHIIPCP
    310 320 330 340 350
    RHRIPRLNIK TGKLEMSYSK FKTKSLSFLG TFILKVAESL QLVTVHQSET
    360 370 380 390 400
    EDGEFTECNN MTLINLLLKV LGPIHERNLT LLLLLLQILG SAITFSIRYQ

    LVRLFYDV
    Length:408
    Mass (Da):46,090
    Last modified:August 29, 2001 - 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:i0AE10EFE55E7B9E0
    GO
    Isoform 2 (identifier: Q9H3H5-2) [UniParc]FASTAAdd to basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-8: Missing.

    Show »
    Length:400
    Mass (Da):45,128
    Checksum:i54D3A9DCCCA14F6B
    GO
    Isoform 3 (identifier: Q9H3H5-3) [UniParc]FASTAAdd to basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-107: Missing.

    Show »
    Length:301
    Mass (Da):34,270
    Checksum:iC605449414F020C3
    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 8 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
    EntryEntry nameProtein names
    Gene namesLengthAnnotation
    H7C2L6H7C2L6_HUMAN
    UDP-N-acetylglucosamine--dolichyl-p...
    DPAGT1
    226Annotation 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>
    A0A1W2PPC6A0A1W2PPC6_HUMAN
    UDP-N-acetylglucosamine--dolichyl-p...
    DPAGT1
    377Annotation 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>
    A0A1W2PQH0A0A1W2PQH0_HUMAN
    UDP-N-acetylglucosamine--dolichyl-p...
    DPAGT1
    173Annotation 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>
    A0A1B0GV58A0A1B0GV58_HUMAN
    UDP-N-acetylglucosamine--dolichyl-p...
    DPAGT1
    77Annotation 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>
    F8WE55F8WE55_HUMAN
    UDP-N-acetylglucosamine--dolichyl-p...
    DPAGT1
    95Annotation 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>
    A0A1W2PRR6A0A1W2PRR6_HUMAN
    UDP-N-acetylglucosamine--dolichyl-p...
    DPAGT1
    102Annotation 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>
    F8W681F8W681_HUMAN
    UDP-N-acetylglucosamine--dolichyl-p...
    DPAGT1
    57Annotation 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>
    A0A1W2PQD1A0A1W2PQD1_HUMAN
    UDP-N-acetylglucosamine--dolichyl-p...
    DPAGT1
    69Annotation 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>

    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 conflicti33R → L in CAB04787 (PubMed:9451016).Curated1
    Sequence conflicti129P → H in AAG43168 (Ref. 2) Curated1

    Natural variant

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Natural variantiVAR_0364229M → I in a breast cancer sample; somatic mutation. 1 Publication1
    Natural variantiVAR_068810108M → I in CMS13; strongly reduced enzyme activity. 2 PublicationsCorresponds to variant dbSNP:rs376039938EnsemblClinVar.1
    Natural variantiVAR_068811117V → I in CMS13; mildly reduced enzyme activity. 2 PublicationsCorresponds to variant dbSNP:rs387907243EnsemblClinVar.1
    Natural variantiVAR_068812120L → M in CMS13; strongly reduced enzyme activity. 2 PublicationsCorresponds to variant dbSNP:rs387907244EnsemblClinVar.1
    Natural variantiVAR_068813160G → S in CMS13; increased enzyme activity. 2 PublicationsCorresponds to variant dbSNP:rs762676399Ensembl.1
    Natural variantiVAR_017243170Y → C in CDG1J; strongly reduced enzyme activity. 2 PublicationsCorresponds to variant dbSNP:rs28934876EnsemblClinVar.1
    Natural variantiVAR_068814192G → S in CMS13; strongly reduced enzyme activity. 2 PublicationsCorresponds to variant dbSNP:rs768464558Ensembl.1
    Natural variantiVAR_068815264V → G in CMS13; increased enzyme activity. 2 PublicationsCorresponds to variant dbSNP:rs387907245EnsemblClinVar.1
    Natural variantiVAR_011391393I → V1 PublicationCorresponds to variant dbSNP:rs643788EnsemblClinVar.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.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0088861 – 107Missing in isoform 3. 1 PublicationAdd BLAST107
    Alternative sequenceiVSP_0018031 – 8Missing in isoform 2. 1 Publication8

    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
    Z82022 mRNA Translation: CAB04787.1
    AF070443, AF069061 Genomic DNA Translation: AAG43168.1
    BT006802 mRNA Translation: AAP35448.1
    BC000325 mRNA Translation: AAH00325.1
    BC047771 mRNA Translation: AAH47771.1

    The Consensus CDS (CCDS) project

    More...
    CCDSi
    CCDS8411.1 [Q9H3H5-1]

    NCBI Reference Sequences

    More...
    RefSeqi
    NP_001373.2, NM_001382.3 [Q9H3H5-1]
    XP_016872782.1, XM_017017293.1 [Q9H3H5-3]

    Genome annotation databases

    Ensembl eukaryotic genome annotation project

    More...
    Ensembli
    ENST00000354202; ENSP00000346142; ENSG00000172269 [Q9H3H5-1]
    ENST00000409993; ENSP00000386597; ENSG00000172269 [Q9H3H5-1]

    Database of genes from NCBI RefSeq genomes

    More...
    GeneIDi
    1798

    KEGG: Kyoto Encyclopedia of Genes and Genomes

    More...
    KEGGi
    hsa:1798

    UCSC genome browser

    More...
    UCSCi
    uc001pvi.4 human [Q9H3H5-1]

    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

    <p>This subsection of the <a href="http://www.uniprot.org/manual/cross%5Freferences%5Fsection">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

    Functional Glycomics Gateway - GTase

    UDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferase

    Sequence databases

    Select the link destinations:
    EMBLi
    GenBanki
    DDBJi
    Links Updated
    Z82022 mRNA Translation: CAB04787.1
    AF070443, AF069061 Genomic DNA Translation: AAG43168.1
    BT006802 mRNA Translation: AAP35448.1
    BC000325 mRNA Translation: AAH00325.1
    BC047771 mRNA Translation: AAH47771.1
    CCDSiCCDS8411.1 [Q9H3H5-1]
    RefSeqiNP_001373.2, NM_001382.3 [Q9H3H5-1]
    XP_016872782.1, XM_017017293.1 [Q9H3H5-3]

    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
    5LEVX-ray3.20A1-408[»]
    5O5EX-ray3.40A1-408[»]
    6BW5X-ray3.10A/B/C/D1-408[»]
    6BW6X-ray2.95A/B/C/D1-408[»]
    6FM9X-ray3.60A1-408[»]
    6FWZX-ray3.10A1-408[»]
    SMRiQ9H3H5
    ModBaseiSearch...
    PDBe-KBiSearch...

    Protein-protein interaction databases

    BioGridi108133, 12 interactors
    IntActiQ9H3H5, 9 interactors
    STRINGi9606.ENSP00000386597

    PTM databases

    iPTMnetiQ9H3H5
    PhosphoSitePlusiQ9H3H5

    Polymorphism and mutation databases

    BioMutaiDPAGT1
    DMDMi18202943

    Proteomic databases

    EPDiQ9H3H5
    jPOSTiQ9H3H5
    MassIVEiQ9H3H5
    MaxQBiQ9H3H5
    PaxDbiQ9H3H5
    PeptideAtlasiQ9H3H5
    PRIDEiQ9H3H5
    ProteomicsDBi80717 [Q9H3H5-1]
    80718 [Q9H3H5-2]
    80719 [Q9H3H5-3]

    Protocols and materials databases

    Antibodypedia a portal for validated antibodies

    More...
    Antibodypediai
    32608 152 antibodies

    The DNASU plasmid repository

    More...
    DNASUi
    1798

    Genome annotation databases

    EnsembliENST00000354202; ENSP00000346142; ENSG00000172269 [Q9H3H5-1]
    ENST00000409993; ENSP00000386597; ENSG00000172269 [Q9H3H5-1]
    GeneIDi1798
    KEGGihsa:1798
    UCSCiuc001pvi.4 human [Q9H3H5-1]

    Organism-specific databases

    Comparative Toxicogenomics Database

    More...
    CTDi
    1798
    DisGeNETi1798

    GeneCards: human genes, protein and diseases

    More...
    GeneCardsi
    DPAGT1
    GeneReviewsiDPAGT1
    HGNCiHGNC:2995 DPAGT1
    HPAiENSG00000172269 Low tissue specificity
    MalaCardsiDPAGT1
    MIMi191350 gene
    608093 phenotype
    614750 phenotype
    neXtProtiNX_Q9H3H5
    OpenTargetsiENSG00000172269
    Orphaneti353327 Congenital myasthenic syndromes with glycosylation defect
    86309 DPAGT1-CDG
    PharmGKBiPA27460

    GenAtlas: human gene database

    More...
    GenAtlasi
    Search...

    Phylogenomic databases

    eggNOGiKOG2788 Eukaryota
    COG0472 LUCA
    GeneTreeiENSGT00390000011424
    HOGENOMiCLU_029942_0_1_1
    InParanoidiQ9H3H5
    KOiK01001
    OMAiVTFSIRY
    OrthoDBi1079130at2759
    PhylomeDBiQ9H3H5
    TreeFamiTF313734

    Enzyme and pathway databases

    UniPathwayiUPA00378
    ReactomeiR-HSA-446193 Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
    R-HSA-4549356 Defective DPAGT1 causes DPAGT1-CDG (CDG-1j) and CMSTA2

    Miscellaneous databases

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

    More...
    ChiTaRSi
    DPAGT1 human

    The Gene Wiki collection of pages on human genes and proteins

    More...
    GeneWikii
    DPAGT1

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

    More...
    GenomeRNAii
    1798
    PharosiQ9H3H5 Tbio

    Protein Ontology

    More...
    PROi
    PR:Q9H3H5
    RNActiQ9H3H5 protein

    The Stanford Online Universal Resource for Clones and ESTs

    More...
    SOURCEi
    Search...

    Gene expression databases

    BgeeiENSG00000172269 Expressed in right lobe of liver and 206 other tissues
    ExpressionAtlasiQ9H3H5 baseline and differential
    GenevisibleiQ9H3H5 HS

    Family and domain databases

    CDDicd06855 GT_GPT_euk, 1 hit
    InterProiView protein in InterPro
    IPR000715 Glycosyl_transferase_4
    IPR033895 GPT
    PANTHERiPTHR10571 PTHR10571, 1 hit
    PfamiView protein in Pfam
    PF00953 Glycos_transf_4, 1 hit

    ProtoNet; Automatic hierarchical classification of proteins

    More...
    ProtoNeti
    Search...

    MobiDB: a database of protein disorder and mobility annotations

    More...
    MobiDBi
    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 nameiGPT_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: Q9H3H5
    Secondary accession number(s): O15216, Q86WV9, Q9BWE6
    <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%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 29, 2001
    Last sequence update: August 29, 2001
    Last modified: April 22, 2020
    This is version 178 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

    3D-structure, Reference proteome

    Documents

    1. Human chromosome 11
      Human chromosome 11: entries, gene names and cross-references to MIM
    2. SIMILARITY comments
      Index of protein domains and families
    3. PATHWAY comments
      Index of metabolic and biosynthesis pathways
    4. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    5. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    6. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    7. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
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