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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-Experimental evidence at protein leveli

Functioni

Catalyzes the initial step in the synthesis of dolichol-P-P-oligosaccharides.

Catalytic activityi

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

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.

GO - Molecular functioni

GO - Biological processi

  • dolichol biosynthetic process Source: UniProtKB
  • dolichol-linked oligosaccharide biosynthetic process Source: Reactome
  • protein N-linked glycosylation Source: UniProtKB
  • protein oligomerization Source: UniProtKB
  • UDP-N-acetylglucosamine metabolic process Source: GO_Central
Complete GO annotation...

Keywords - Molecular functioni

Glycosyltransferase, Transferase

Enzyme and pathway databases

BioCyciZFISH:HS10481-MONOMER.
ReactomeiR-HSA-446193. Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein.
UniPathwayiUPA00378.

Names & Taxonomyi

Protein namesi
Recommended name:
UDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferase (EC:2.7.8.15)
Alternative name(s):
GlcNAc-1-P transferase
Short name:
G1PT
Short name:
GPT
N-acetylglucosamine-1-phosphate transferase
Gene namesi
Name:DPAGT1
Synonyms:DPAGT2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 11

Organism-specific databases

HGNCiHGNC:2995. DPAGT1.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 6LumenalSequence analysis6
Transmembranei7 – 32HelicalSequence analysisAdd BLAST26
Topological domaini33 – 57CytoplasmicSequence analysisAdd BLAST25
Transmembranei58 – 79HelicalSequence analysisAdd BLAST22
Topological domaini80 – 94LumenalSequence analysisAdd BLAST15
Transmembranei95 – 114HelicalSequence analysisAdd BLAST20
Topological domaini115 – 125CytoplasmicSequence analysisAdd BLAST11
Transmembranei126 – 145HelicalSequence analysisAdd BLAST20
Topological domaini146 – 164LumenalSequence analysisAdd BLAST19
Transmembranei165 – 184HelicalSequence analysisAdd BLAST20
Topological domaini185 – 194CytoplasmicSequence analysis10
Transmembranei195 – 211HelicalSequence analysisAdd BLAST17
Topological domaini212 – 221LumenalSequence analysis10
Transmembranei222 – 240HelicalSequence analysisAdd BLAST19
Topological domaini241 – 252CytoplasmicSequence analysisAdd BLAST12
Transmembranei253 – 269HelicalSequence analysisAdd BLAST17
Topological domaini270 – 274LumenalSequence analysis5
Transmembranei275 – 294HelicalSequence analysisAdd BLAST20
Topological domaini295 – 378CytoplasmicSequence analysisAdd BLAST84
Transmembranei379 – 397HelicalSequence analysisAdd BLAST19
Topological domaini398 – 408LumenalSequence analysisAdd BLAST11

GO - Cellular componenti

Complete GO annotation...

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 rs28934876dbSNPEnsembl.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 rs376039938dbSNPEnsembl.1
Natural variantiVAR_068811117V → I in CMS13. 1 PublicationCorresponds to variant rs387907243dbSNPEnsembl.1
Natural variantiVAR_068812120L → M in CMS13. 1 PublicationCorresponds to variant rs387907244dbSNPEnsembl.1
Natural variantiVAR_068813160G → S in CMS13. 1 PublicationCorresponds to variant rs762676399dbSNPEnsembl.1
Natural variantiVAR_068814192G → S in CMS13. 1 PublicationCorresponds to variant rs768464558dbSNPEnsembl.1
Natural variantiVAR_068815264V → G in CMS13. 1 PublicationCorresponds to variant rs387907245dbSNPEnsembl.1

Keywords - Diseasei

Congenital disorder of glycosylation, Congenital myasthenic syndrome, Disease mutation

Organism-specific databases

DisGeNETi1798.
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...)Sequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

EPDiQ9H3H5.
MaxQBiQ9H3H5.
PaxDbiQ9H3H5.
PeptideAtlasiQ9H3H5.
PRIDEiQ9H3H5.

PTM databases

iPTMnetiQ9H3H5.
PhosphoSitePlusiQ9H3H5.

Expressioni

Gene expression databases

BgeeiENSG00000172269.
CleanExiHS_DPAGT1.
ExpressionAtlasiQ9H3H5. baseline and differential.
GenevisibleiQ9H3H5. HS.

Organism-specific databases

HPAiHPA053878.

Interactioni

Protein-protein interaction databases

BioGridi108133. 10 interactors.
IntActiQ9H3H5. 1 interactor.
STRINGi9606.ENSP00000346142.

Structurei

3D structure databases

ProteinModelPortaliQ9H3H5.
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.
OMAiWAFPELP.
OrthoDBiEOG091G0A0M.
PhylomeDBiQ9H3H5.
TreeFamiTF313734.

Family and domain databases

CDDicd06855. GT_GPT_euk. 1 hit.
InterProiIPR000715. Glycosyl_transferase_4.
IPR033895. GPT.
[Graphical view]
PANTHERiPTHR10571. PTHR10571. 1 hit.
PfamiPF00953. Glycos_transf_4. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

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

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 rs376039938dbSNPEnsembl.1
Natural variantiVAR_068811117V → I in CMS13. 1 PublicationCorresponds to variant rs387907243dbSNPEnsembl.1
Natural variantiVAR_068812120L → M in CMS13. 1 PublicationCorresponds to variant rs387907244dbSNPEnsembl.1
Natural variantiVAR_068813160G → S in CMS13. 1 PublicationCorresponds to variant rs762676399dbSNPEnsembl.1
Natural variantiVAR_017243170Y → C in CDG1J. 1 PublicationCorresponds to variant rs28934876dbSNPEnsembl.1
Natural variantiVAR_068814192G → S in CMS13. 1 PublicationCorresponds to variant rs768464558dbSNPEnsembl.1
Natural variantiVAR_068815264V → G in CMS13. 1 PublicationCorresponds to variant rs387907245dbSNPEnsembl.1
Natural variantiVAR_011391393I → V.1 PublicationCorresponds to variant rs643788dbSNPEnsembl.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

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

ProteinModelPortaliQ9H3H5.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108133. 10 interactors.
IntActiQ9H3H5. 1 interactor.
STRINGi9606.ENSP00000346142.

PTM databases

iPTMnetiQ9H3H5.
PhosphoSitePlusiQ9H3H5.

Polymorphism and mutation databases

BioMutaiDPAGT1.
DMDMi18202943.

Proteomic databases

EPDiQ9H3H5.
MaxQBiQ9H3H5.
PaxDbiQ9H3H5.
PeptideAtlasiQ9H3H5.
PRIDEiQ9H3H5.

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.
GeneCardsiDPAGT1.
GeneReviewsiDPAGT1.
H-InvDBHIX0019316.
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.
OMAiWAFPELP.
OrthoDBiEOG091G0A0M.
PhylomeDBiQ9H3H5.
TreeFamiTF313734.

Enzyme and pathway databases

UniPathwayiUPA00378.
BioCyciZFISH:HS10481-MONOMER.
ReactomeiR-HSA-446193. Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein.

Miscellaneous databases

GeneWikiiDPAGT1.
GenomeRNAii1798.
PROiQ9H3H5.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000172269.
CleanExiHS_DPAGT1.
ExpressionAtlasiQ9H3H5. baseline and differential.
GenevisibleiQ9H3H5. HS.

Family and domain databases

CDDicd06855. GT_GPT_euk. 1 hit.
InterProiIPR000715. Glycosyl_transferase_4.
IPR033895. GPT.
[Graphical view]
PANTHERiPTHR10571. PTHR10571. 1 hit.
PfamiPF00953. Glycos_transf_4. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiGPT_HUMAN
AccessioniPrimary (citable) accession number: Q9H3H5
Secondary accession number(s): O15216, Q86WV9, Q9BWE6
Entry historyi
Integrated into UniProtKB/Swiss-Prot: August 29, 2001
Last sequence update: August 29, 2001
Last modified: November 30, 2016
This is version 153 of the entry and version 2 of the sequence. [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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
  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. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.