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Protein

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

Gene

DPAGT1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

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.1 Publication

Catalytic activityi

UDP-N-acetyl-D-glucosamine + dolichyl phosphate = UMP + N-acetyl-D-glucosaminyl-diphosphodolichol.1 Publication

Cofactori

Mg2+1 Publication

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:29459785).1 Publication1 Publication

Pathwayi: protein glycosylation

This protein is involved in the pathway protein glycosylation, which is part of Protein modification.
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
Binding sitei46Inhibitor; via amide nitrogenCombined sources1 Publication1
Binding sitei119InhibitorCombined sources1 Publication1
Binding sitei185InhibitorCombined sources1 Publication1
Binding sitei252InhibitorCombined sources1 Publication1
Binding sitei303InhibitorCombined sources1 Publication1

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionGlycosyltransferase, Transferase
LigandMagnesium

Enzyme and pathway databases

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
UniPathwayi
UPA00378

Names & Taxonomyi

Protein namesi
Recommended name:
UDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferase (EC:2.7.8.151 Publication)
Alternative name(s):
GlcNAc-1-P transferase1 Publication
Short name:
G1PT
Short name:
GPT1 Publication
N-acetylglucosamine-1-phosphate transferase
Gene namesi
Name:DPAGT13 PublicationsImported
Synonyms:DPAGT2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 11

Organism-specific databases

EuPathDBiHostDB:ENSG00000172269.16
HGNCiHGNC:2995 DPAGT1
MIMi191350 gene
neXtProtiNX_Q9H3H5

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 10Lumenal1 Publication10
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

Pathology & Biotechi

Involvement in diseasei

Congenital disorder of glycosylation 1J (CDG1J)1 Publication
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.
See also OMIM:608093
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_017243170Y → C in CDG1J. 1 PublicationCorresponds to variant dbSNP:rs28934876EnsemblClinVar.1
Myasthenic syndrome, congenital, 13 (CMS13)1 Publication
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.
See also OMIM:614750
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_068810108M → I in CMS13. 1 PublicationCorresponds to variant dbSNP:rs376039938EnsemblClinVar.1
Natural variantiVAR_068811117V → I in CMS13. 1 PublicationCorresponds to variant dbSNP:rs387907243EnsemblClinVar.1
Natural variantiVAR_068812120L → M in CMS13. 1 PublicationCorresponds to variant dbSNP:rs387907244EnsemblClinVar.1
Natural variantiVAR_068813160G → S in CMS13. 1 PublicationCorresponds to variant dbSNP:rs762676399Ensembl.1
Natural variantiVAR_068814192G → S in CMS13. 1 PublicationCorresponds to variant dbSNP:rs768464558Ensembl.1
Natural variantiVAR_068815264V → G in CMS13. 1 PublicationCorresponds to variant dbSNP:rs387907245EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi252D → A: Reduces binding to inhibitor. 1 Publication1

Keywords - Diseasei

Congenital disorder of glycosylation, Congenital myasthenic syndrome, Disease mutation

Organism-specific databases

DisGeNETi1798
GeneReviewsiDPAGT1
MalaCardsiDPAGT1
MIMi608093 phenotype
614750 phenotype
OpenTargetsiENSG00000172269
Orphaneti353327 Congenital myasthenic syndromes with glycosylation defect
86309 DPAGT1-CDG
PharmGKBiPA27460

Polymorphism and mutation databases

BioMutaiDPAGT1
DMDMi18202943

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001087611 – 408UDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferaseAdd BLAST408

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi146N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

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

PTM databases

iPTMnetiQ9H3H5
PhosphoSitePlusiQ9H3H5

Expressioni

Gene expression databases

BgeeiENSG00000172269 Expressed in 207 organ(s), highest expression level in right lobe of liver
CleanExiHS_DPAGT1
ExpressionAtlasiQ9H3H5 baseline and differential
GenevisibleiQ9H3H5 HS

Organism-specific databases

HPAiHPA053878

Interactioni

Subunit structurei

Homodimer.1 Publication

Protein-protein interaction databases

BioGridi108133, 11 interactors
IntActiQ9H3H5, 1 interactor
STRINGi9606.ENSP00000346142

Structurei

Secondary structure

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

3D structure databases

ProteinModelPortaliQ9H3H5
SMRiQ9H3H5
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi67 – 79Dolichol recognitionAdd BLAST13
Motifi222 – 234Dolichol recognitionAdd BLAST13

Sequence similaritiesi

Belongs to the glycosyltransferase 4 family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG2788 Eukaryota
COG0472 LUCA
GeneTreeiENSGT00390000011424
HOGENOMiHOG000163915
HOVERGENiHBG000846
InParanoidiQ9H3H5
KOiK01001
OMAiGDYRDDH
OrthoDBiEOG091G0A0M
PhylomeDBiQ9H3H5
TreeFamiTF313734

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

Sequences (3+)i

Sequence statusi: Complete.

This entry describes 3 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 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
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
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.

Note: No experimental confirmation available.
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.

Note: No experimental confirmation available.
Show »
Length:301
Mass (Da):34,270
Checksum:iC605449414F020C3
GO

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:
A0A1W2PQH0A0A1W2PQH0_HUMAN
UDP-N-acetylglucosamine--dolichyl-p...
DPAGT1
173Annotation score:
A0A1W2PPC6A0A1W2PPC6_HUMAN
UDP-N-acetylglucosamine--dolichyl-p...
DPAGT1
377Annotation score:
A0A1B0GV58A0A1B0GV58_HUMAN
UDP-N-acetylglucosamine--dolichyl-p...
DPAGT1
77Annotation score:
F8WE55F8WE55_HUMAN
UDP-N-acetylglucosamine--dolichyl-p...
DPAGT1
95Annotation score:
A0A1W2PRR6A0A1W2PRR6_HUMAN
UDP-N-acetylglucosamine--dolichyl-p...
DPAGT1
102Annotation score:
F8W681F8W681_HUMAN
UDP-N-acetylglucosamine--dolichyl-p...
DPAGT1
57Annotation score:
A0A1W2PQD1A0A1W2PQD1_HUMAN
UDP-N-acetylglucosamine--dolichyl-p...
DPAGT1
69Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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. 1 PublicationCorresponds to variant dbSNP:rs376039938EnsemblClinVar.1
Natural variantiVAR_068811117V → I in CMS13. 1 PublicationCorresponds to variant dbSNP:rs387907243EnsemblClinVar.1
Natural variantiVAR_068812120L → M in CMS13. 1 PublicationCorresponds to variant dbSNP:rs387907244EnsemblClinVar.1
Natural variantiVAR_068813160G → S in CMS13. 1 PublicationCorresponds to variant dbSNP:rs762676399Ensembl.1
Natural variantiVAR_017243170Y → C in CDG1J. 1 PublicationCorresponds to variant dbSNP:rs28934876EnsemblClinVar.1
Natural variantiVAR_068814192G → S in CMS13. 1 PublicationCorresponds to variant dbSNP:rs768464558Ensembl.1
Natural variantiVAR_068815264V → G in CMS13. 1 PublicationCorresponds to variant dbSNP:rs387907245EnsemblClinVar.1
Natural variantiVAR_011391393I → V1 PublicationCorresponds to variant dbSNP:rs643788EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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:
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]
UniGeneiHs.524081

Genome annotation databases

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

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

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]
UniGeneiHs.524081

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
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[»]
ProteinModelPortaliQ9H3H5
SMRiQ9H3H5
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108133, 11 interactors
IntActiQ9H3H5, 1 interactor
STRINGi9606.ENSP00000346142

PTM databases

iPTMnetiQ9H3H5
PhosphoSitePlusiQ9H3H5

Polymorphism and mutation databases

BioMutaiDPAGT1
DMDMi18202943

Proteomic databases

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

Protocols and materials databases

DNASUi1798
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi1798
DisGeNETi1798
EuPathDBiHostDB:ENSG00000172269.16
GeneCardsiDPAGT1
GeneReviewsiDPAGT1
H-InvDBiHIX0019316
HGNCiHGNC:2995 DPAGT1
HPAiHPA053878
MalaCardsiDPAGT1
MIMi191350 gene
608093 phenotype
614750 phenotype
neXtProtiNX_Q9H3H5
OpenTargetsiENSG00000172269
Orphaneti353327 Congenital myasthenic syndromes with glycosylation defect
86309 DPAGT1-CDG
PharmGKBiPA27460
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2788 Eukaryota
COG0472 LUCA
GeneTreeiENSGT00390000011424
HOGENOMiHOG000163915
HOVERGENiHBG000846
InParanoidiQ9H3H5
KOiK01001
OMAiGDYRDDH
OrthoDBiEOG091G0A0M
PhylomeDBiQ9H3H5
TreeFamiTF313734

Enzyme and pathway databases

UniPathwayi
UPA00378

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

GeneWikiiDPAGT1
GenomeRNAii1798
PROiPR:Q9H3H5
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000172269 Expressed in 207 organ(s), highest expression level in right lobe of liver
CleanExiHS_DPAGT1
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
ProtoNetiSearch...

Entry informationi

Entry nameiGPT_HUMAN
AccessioniPrimary (citable) accession number: Q9H3H5
Secondary accession number(s): O15216, Q86WV9, Q9BWE6
Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 29, 2001
Last sequence update: August 29, 2001
Last modified: October 10, 2018
This is version 167 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

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