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Q9H3H5

- GPT_HUMAN

UniProt

Q9H3H5 - GPT_HUMAN

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Protein

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

Gene

DPAGT1

Organism
Homo sapiens (Human)
Status
Reviewed - 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

GO - Molecular functioni

  1. phospho-N-acetylmuramoyl-pentapeptide-transferase activity Source: InterPro
  2. transferase activity, transferring glycosyl groups Source: UniProtKB-KW
  3. UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity Source: UniProtKB

GO - Biological processi

  1. cellular protein metabolic process Source: Reactome
  2. dolichol biosynthetic process Source: UniProtKB
  3. dolichol-linked oligosaccharide biosynthetic process Source: Reactome
  4. post-translational protein modification Source: Reactome
  5. protein N-linked glycosylation Source: UniProtKB
  6. protein N-linked glycosylation via asparagine Source: Reactome
  7. protein oligomerization Source: UniProtKB
  8. UDP-N-acetylglucosamine metabolic process Source: Ensembl
Complete GO annotation...

Keywords - Molecular functioni

Glycosyltransferase, Transferase

Enzyme and pathway databases

ReactomeiREACT_22433. 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
ProteomesiUP000005640: Chromosome 11

Organism-specific databases

HGNCiHGNC:2995. DPAGT1.

Subcellular locationi

GO - Cellular componenti

  1. endoplasmic reticulum membrane Source: UniProtKB
  2. integral component of endoplasmic reticulum membrane Source: UniProtKB
  3. integral component of membrane Source: UniProtKB
  4. intracellular membrane-bounded organelle Source: UniProtKB
  5. membrane Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

Pathology & Biotechi

Involvement in diseasei

Congenital disorder of glycosylation 1J (CDG1J) [MIM:608093]: 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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti170 – 1701Y → C in CDG1J. 1 Publication
Corresponds to variant rs28934876 [ dbSNP | Ensembl ].
VAR_017243
Myasthenic syndrome, congenital, with tubular aggregates, 2 (CMSTA2) [MIM:614750]: A congenital myasthenic syndrome 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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti108 – 1081M → I in CMSTA2. 1 Publication
VAR_068810
Natural varianti117 – 1171V → I in CMSTA2. 1 Publication
VAR_068811
Natural varianti120 – 1201L → M in CMSTA2. 1 Publication
VAR_068812
Natural varianti160 – 1601G → S in CMSTA2. 1 Publication
VAR_068813
Natural varianti192 – 1921G → S in CMSTA2. 1 Publication
VAR_068814
Natural varianti264 – 2641V → G in CMSTA2. 1 Publication
VAR_068815

Keywords - Diseasei

Congenital disorder of glycosylation, Congenital myasthenic syndrome, Disease mutation

Organism-specific databases

MIMi608093. phenotype.
614750. phenotype.
Orphaneti353327. Congenital myasthenic syndromes with glycosylation defect.
86309. DPAGT1-CDG.
PharmGKBiPA27460.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 408408UDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferasePRO_0000108761Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi146 – 1461N-linked (GlcNAc...)Sequence Analysis

Keywords - PTMi

Glycoprotein

Proteomic databases

MaxQBiQ9H3H5.
PaxDbiQ9H3H5.
PRIDEiQ9H3H5.

PTM databases

PhosphoSiteiQ9H3H5.

Expressioni

Gene expression databases

BgeeiQ9H3H5.
CleanExiHS_DPAGT1.
ExpressionAtlasiQ9H3H5. baseline and differential.
GenevestigatoriQ9H3H5.

Organism-specific databases

HPAiHPA053878.

Interactioni

Protein-protein interaction databases

BioGridi108133. 4 interactions.
IntActiQ9H3H5. 1 interaction.
STRINGi9606.ENSP00000346142.

Structurei

3D structure databases

ProteinModelPortaliQ9H3H5.
ModBaseiSearch...
MobiDBiSearch...

Topological domain

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 66LumenalSequence Analysis
Topological domaini33 – 5725CytoplasmicSequence AnalysisAdd
BLAST
Topological domaini80 – 9415LumenalSequence AnalysisAdd
BLAST
Topological domaini115 – 12511CytoplasmicSequence AnalysisAdd
BLAST
Topological domaini146 – 16419LumenalSequence AnalysisAdd
BLAST
Topological domaini185 – 19410CytoplasmicSequence Analysis
Topological domaini212 – 22110LumenalSequence Analysis
Topological domaini241 – 25212CytoplasmicSequence AnalysisAdd
BLAST
Topological domaini270 – 2745LumenalSequence Analysis
Topological domaini295 – 37884CytoplasmicSequence AnalysisAdd
BLAST
Topological domaini398 – 40811LumenalSequence AnalysisAdd
BLAST

Transmembrane

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei7 – 3226HelicalSequence AnalysisAdd
BLAST
Transmembranei58 – 7922HelicalSequence AnalysisAdd
BLAST
Transmembranei95 – 11420HelicalSequence AnalysisAdd
BLAST
Transmembranei126 – 14520HelicalSequence AnalysisAdd
BLAST
Transmembranei165 – 18420HelicalSequence AnalysisAdd
BLAST
Transmembranei195 – 21117HelicalSequence AnalysisAdd
BLAST
Transmembranei222 – 24019HelicalSequence AnalysisAdd
BLAST
Transmembranei253 – 26917HelicalSequence AnalysisAdd
BLAST
Transmembranei275 – 29420HelicalSequence AnalysisAdd
BLAST
Transmembranei379 – 39719HelicalSequence AnalysisAdd
BLAST

Family & Domainsi

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi67 – 7913Dolichol recognitionAdd
BLAST
Motifi222 – 23413Dolichol recognitionAdd
BLAST

Sequence similaritiesi

Belongs to the glycosyltransferase 4 family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiCOG0472.
GeneTreeiENSGT00390000011424.
HOGENOMiHOG000163915.
HOVERGENiHBG000846.
InParanoidiQ9H3H5.
KOiK01001.
OMAiIHERNLT.
OrthoDBiEOG73804W.
PhylomeDBiQ9H3H5.
TreeFamiTF313734.

Family and domain databases

InterProiIPR000715. Glycosyl_transferase_4.
[Graphical view]
PfamiPF00953. Glycos_transf_4. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. Align

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)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti33 – 331R → L in CAB04787. (PubMed:9451016)Curated
Sequence conflicti129 – 1291P → H in AAG43168. 1 PublicationCurated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti9 – 91M → I in a breast cancer sample; somatic mutation. 1 Publication
VAR_036422
Natural varianti108 – 1081M → I in CMSTA2. 1 Publication
VAR_068810
Natural varianti117 – 1171V → I in CMSTA2. 1 Publication
VAR_068811
Natural varianti120 – 1201L → M in CMSTA2. 1 Publication
VAR_068812
Natural varianti160 – 1601G → S in CMSTA2. 1 Publication
VAR_068813
Natural varianti170 – 1701Y → C in CDG1J. 1 Publication
Corresponds to variant rs28934876 [ dbSNP | Ensembl ].
VAR_017243
Natural varianti192 – 1921G → S in CMSTA2. 1 Publication
VAR_068814
Natural varianti264 – 2641V → G in CMSTA2. 1 Publication
VAR_068815
Natural varianti393 – 3931I → V.1 Publication
Corresponds to variant rs643788 [ dbSNP | Ensembl ].
VAR_011391

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 107107Missing in isoform 3. 1 PublicationVSP_008886Add
BLAST
Alternative sequencei1 – 88Missing in isoform 2. 1 PublicationVSP_001803

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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]
UniGeneiHs.524081.

Genome annotation databases

EnsembliENST00000354202; ENSP00000346142; ENSG00000172269. [Q9H3H5-1]
ENST00000409993; ENSP00000386597; ENSG00000172269. [Q9H3H5-1]
GeneIDi1798.
KEGGihsa:1798.
UCSCiuc001pvi.3. human. [Q9H3H5-1]

Polymorphism databases

DMDMi18202943.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Web resourcesi

GGDB

GlycoGene database

Functional Glycomics Gateway - GTase

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

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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 .
CCDSi CCDS8411.1. [Q9H3H5-1 ]
RefSeqi NP_001373.2. NM_001382.3. [Q9H3H5-1 ]
UniGenei Hs.524081.

3D structure databases

ProteinModelPortali Q9H3H5.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 108133. 4 interactions.
IntActi Q9H3H5. 1 interaction.
STRINGi 9606.ENSP00000346142.

PTM databases

PhosphoSitei Q9H3H5.

Polymorphism databases

DMDMi 18202943.

Proteomic databases

MaxQBi Q9H3H5.
PaxDbi Q9H3H5.
PRIDEi Q9H3H5.

Protocols and materials databases

DNASUi 1798.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000354202 ; ENSP00000346142 ; ENSG00000172269 . [Q9H3H5-1 ]
ENST00000409993 ; ENSP00000386597 ; ENSG00000172269 . [Q9H3H5-1 ]
GeneIDi 1798.
KEGGi hsa:1798.
UCSCi uc001pvi.3. human. [Q9H3H5-1 ]

Organism-specific databases

CTDi 1798.
GeneCardsi GC11M118973.
GeneReviewsi DPAGT1.
H-InvDB HIX0019316.
HGNCi HGNC:2995. DPAGT1.
HPAi HPA053878.
MIMi 191350. gene.
608093. phenotype.
614750. phenotype.
neXtProti NX_Q9H3H5.
Orphaneti 353327. Congenital myasthenic syndromes with glycosylation defect.
86309. DPAGT1-CDG.
PharmGKBi PA27460.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG0472.
GeneTreei ENSGT00390000011424.
HOGENOMi HOG000163915.
HOVERGENi HBG000846.
InParanoidi Q9H3H5.
KOi K01001.
OMAi IHERNLT.
OrthoDBi EOG73804W.
PhylomeDBi Q9H3H5.
TreeFami TF313734.

Enzyme and pathway databases

UniPathwayi UPA00378 .
Reactomei REACT_22433. Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein.

Miscellaneous databases

GeneWikii DPAGT1.
GenomeRNAii 1798.
NextBioi 7325.
PROi Q9H3H5.
SOURCEi Search...

Gene expression databases

Bgeei Q9H3H5.
CleanExi HS_DPAGT1.
ExpressionAtlasi Q9H3H5. baseline and differential.
Genevestigatori Q9H3H5.

Family and domain databases

InterProi IPR000715. Glycosyl_transferase_4.
[Graphical view ]
Pfami PF00953. Glycos_transf_4. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Cloning and functional expression of the human GlcNAc-1-P transferase, the enzyme for the committed step of the dolichol cycle, by heterologous complementation in Saccharomyces cerevisiae."
    Eckert V., Blank M., Mazhari-Tabrizi R., Mumberg D., Funk M., Schwarz R.T.
    Glycobiology 8:77-85(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
    Tissue: Lung.
  2. "Putative genomic sequence of GlcNAc-1-P transferase on chromosome 11q23."
    Dagnino F., Regis S., Filocamo M., Gatti R.
    Submitted (MAY-1998) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 1).
  3. "Cloning of human full-length CDSs in BD Creator(TM) system donor vector."
    Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., Phelan M., Farmer A.
    Submitted (MAY-2003) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
  4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 3), VARIANT VAL-393.
    Tissue: Lung.
  5. "Deficiency of UDP-GlcNAc:dolichol phosphate N-acetylglucosamine-1 phosphate transferase (DPAGT1) causes a novel congenital disorder of glycosylation type Ij."
    Wu X., Rush J.S., Karaoglu D., Krasnewich D., Lubinsky M.S., Waechter C.J., Gilmore R., Freeze H.H.
    Hum. Mutat. 22:144-150(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT CDG1J CYS-170.
  6. Cited for: VARIANT [LARGE SCALE ANALYSIS] ILE-9.
  7. Cited for: VARIANTS CMSTA2 ILE-108; ILE-117; MET-120; SER-160; SER-192 AND GLY-264.

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: October 29, 2014
This is version 134 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

External Data

Dasty 3