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Entry version 187 (23 Feb 2022)
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 sitei46Tunicamycin A1; inhibitor; via amide nitrogenCombined sources1 Publication1
Binding sitei56UDP-N-acetylglucosamine1 Publication1
Binding sitei119Tunicamycin A1; inhibitorCombined 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 sitei185Tunicamycin A1; inhibitorCombined sources1 Publication1
Binding sitei191UDP-N-acetylglucosamine1 Publication1
Metal bindingi252MagnesiumCombined sources1 Publication1
Binding sitei252Tunicamycin A1; inhibitorCombined sources1 Publication1
Binding sitei303Tunicamycin A1; inhibitorCombined 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

Pathway Commons web resource for biological pathway data

More...
PathwayCommonsi
Q9H3H5

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 CDG-1j, CMSTA2

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...
SignaLinki
Q9H3H5

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

Eukaryotic Pathogen, Vector and Host Database Resources

More...
VEuPathDBi
HostDB:ENSG00000172269

<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

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 variants 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 variants 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:rs768464558EnsemblClinVar.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 variant

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

Genetic variation 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

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MassIVEi
Q9H3H5

MaxQB - The MaxQuant DataBase

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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

GlyGen: Computational and Informatics Resources for Glycoscience

More...
GlyGeni
Q9H3H5, 2 sites, 1 O-linked glycan (1 site)

iPTMnet integrated resource for PTMs in systems biology context

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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

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Bgeei
ENSG00000172269, Expressed in right lobe of liver and 220 other tissues

ExpressionAtlas, Differential and Baseline Expression

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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

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">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="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<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
108133, 14 interactors

Protein interaction database and analysis system

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IntActi
Q9H3H5, 12 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

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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

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

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InParanoidi
Q9H3H5

Identification of Orthologs from Complete Genome Data

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OMAi
HNWYPSQ

Database of Orthologous Groups

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OrthoDBi
1079130at2759

Database for complete collections of gene phylogenies

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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

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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.<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 15 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 <p><strong>What is the canonical sequence?</strong><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.

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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 15 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H7C2L6H7C2L6_HUMAN
GlcNAc-1-P transferase
DPAGT1
226Annotation score:

Annotation score:3 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
GlcNAc-1-P transferase
DPAGT1
377Annotation score:

Annotation score:3 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
GlcNAc-1-P transferase
DPAGT1
173Annotation score:

Annotation score:3 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
GlcNAc-1-P transferase
DPAGT1
77Annotation score:

Annotation score:3 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>
A0A804HI18A0A804HI18_HUMAN
GlcNAc-1-P transferase
DPAGT1
242Annotation 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>
A0A804HJ11A0A804HJ11_HUMAN
GlcNAc-1-P transferase
DPAGT1
379Annotation 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>
A0A804HKZ3A0A804HKZ3_HUMAN
GlcNAc-1-P transferase
DPAGT1
313Annotation 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>
A0A804HL46A0A804HL46_HUMAN
GlcNAc-1-P transferase
DPAGT1
276Annotation 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>
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>
There are more potential isoformsShow all

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:rs768464558EnsemblClinVar.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
ENST00000409993; ENSP00000386597; ENSG00000172269

Database of genes from NCBI RefSeq genomes

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GeneIDi
1798

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:1798

Matched Annotation from NCBI and EMBL-EBI (MANE) - Phase one

More...
MANE-Selecti
ENST00000354202.9; ENSP00000346142.4; NM_001382.4; NP_001373.2

UCSC genome browser

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

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

<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

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RCSB PDBi

Protein Data Bank Japan

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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[»]
6JQ3X-ray2.50P204-211[»]
SMRiQ9H3H5
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi108133, 14 interactors
IntActiQ9H3H5, 12 interactors
STRINGi9606.ENSP00000386597

PTM databases

GlyGeniQ9H3H5, 2 sites, 1 O-linked glycan (1 site)
iPTMnetiQ9H3H5
PhosphoSitePlusiQ9H3H5

Genetic variation 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, 156 antibodies from 23 providers

The DNASU plasmid repository

More...
DNASUi
1798

Genome annotation databases

EnsembliENST00000354202; ENSP00000346142; ENSG00000172269
ENST00000409993; ENSP00000386597; ENSG00000172269
GeneIDi1798
KEGGihsa:1798
MANE-SelectiENST00000354202.9; ENSP00000346142.4; NM_001382.4; NP_001373.2
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
VEuPathDBiHostDB:ENSG00000172269

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG2788, Eukaryota
GeneTreeiENSGT00390000011424
HOGENOMiCLU_029942_0_1_1
InParanoidiQ9H3H5
OMAiHNWYPSQ
OrthoDBi1079130at2759
PhylomeDBiQ9H3H5
TreeFamiTF313734

Enzyme and pathway databases

UniPathwayiUPA00378
PathwayCommonsiQ9H3H5
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 CDG-1j, CMSTA2
SignaLinkiQ9H3H5

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...
BioGRID-ORCSi
1798, 601 hits in 1055 CRISPR screens

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 220 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

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: February 23, 2022
This is version 187 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. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  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. SIMILARITY comments
    Index of protein domains and families
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