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Aliases for DPAGT1 Gene

Aliases for DPAGT1 Gene

  • Dolichyl-Phosphate N-Acetylglucosaminephosphotransferase 1 2 3
  • Dolichyl-Phosphate (UDP-N-Acetylglucosamine) N-Acetylglucosaminephosphotransferase 1 (GlcNAc-1-P Transferase) 2 3 5
  • UDP-N-Acetylglucosamine--Dolichyl-Phosphate N-Acetylglucosaminephosphotransferase 1 2 3
  • N-Acetylglucosamine-1-Phosphate Transferase 3 4
  • GlcNAc-1-P Transferase 1 2 3
  • GlcNAc-1-P Transferase 3 4
  • EC 2.7.8.15 4 63
  • DPAGT2 3 4
  • G1PT 3 4
  • GPT 3 4
  • Dolichyl-Phosphate (UDP-N-Acetylglucosamine) N-Acetylglucosaminephosphotransferase 1 (GlcNAc-1-P Tra 3
  • UDP-GlcNAc:Dolichyl-Phosphate N-Acetylglucosaminephosphotransferase 3
  • Dolichyl-Phosphate Alpha-N-Acetylglucosaminyltransferase 3
  • EC 2.7.8 63
  • D11S366 3
  • CDG-Ij 3
  • CMSTA2 3
  • CDG1J 3
  • CMS13 3
  • DPAGT 3
  • ALG7 3
  • DGPT 3
  • UAGT 3
  • UGAT 3

External Ids for DPAGT1 Gene

Previous HGNC Symbols for DPAGT1 Gene

  • DPAGT2
  • DPAGT

Previous GeneCards Identifiers for DPAGT1 Gene

  • GC11M135549
  • GC11M120479
  • GC11M119001
  • GC11M118504
  • GC11M118472
  • GC11M114906
  • GC11M118973

Summaries for DPAGT1 Gene

Entrez Gene Summary for DPAGT1 Gene

  • The protein encoded by this gene is an enzyme that catalyzes the first step in the dolichol-linked oligosaccharide pathway for glycoprotein biosynthesis. This enzyme belongs to the glycosyltransferase family 4. This protein is an integral membrane protein of the endoplasmic reticulum. The congenital disorder of glycosylation type Ij is caused by mutation in the gene encoding this enzyme. [provided by RefSeq, Jul 2008]

GeneCards Summary for DPAGT1 Gene

DPAGT1 (Dolichyl-Phosphate N-Acetylglucosaminephosphotransferase 1) is a Protein Coding gene. Diseases associated with DPAGT1 include myasthenic syndrome, congenital, 13, with tubular aggregates and congenital disorder of glycosylation, type ij. Among its related pathways are Metabolism and Transport to the Golgi and subsequent modification. GO annotations related to this gene include transferase activity, transferring glycosyl groups and phospho-N-acetylmuramoyl-pentapeptide-transferase activity.

UniProtKB/Swiss-Prot for DPAGT1 Gene

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

Gene Wiki entry for DPAGT1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DPAGT1 Gene

Genomics for DPAGT1 Gene

Regulatory Elements for DPAGT1 Gene

Promoters for DPAGT1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around DPAGT1 on UCSC Golden Path with GeneCards custom track

Genomic Location for DPAGT1 Gene

Chromosome:
11
Start:
119,096,503 bp from pter
End:
119,108,331 bp from pter
Size:
11,829 bases
Orientation:
Minus strand

Genomic View for DPAGT1 Gene

Genes around DPAGT1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DPAGT1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DPAGT1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DPAGT1 Gene

Proteins for DPAGT1 Gene

  • Protein details for DPAGT1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H3H5-GPT_HUMAN
    Recommended name:
    UDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferase
    Protein Accession:
    Q9H3H5
    Secondary Accessions:
    • O15216
    • Q86WV9
    • Q9BWE6

    Protein attributes for DPAGT1 Gene

    Size:
    408 amino acids
    Molecular mass:
    46090 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for DPAGT1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DPAGT1 Gene

Proteomics data for DPAGT1 Gene at MOPED

Post-translational modifications for DPAGT1 Gene

Other Protein References for DPAGT1 Gene

Antibody Products

Domains & Families for DPAGT1 Gene

Protein Domains for DPAGT1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for DPAGT1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9H3H5

UniProtKB/Swiss-Prot:

GPT_HUMAN :
  • Belongs to the glycosyltransferase 4 family.
Family:
  • Belongs to the glycosyltransferase 4 family.
genes like me logo Genes that share domains with DPAGT1: view

No data available for Gene Families for DPAGT1 Gene

Function for DPAGT1 Gene

Molecular function for DPAGT1 Gene

GENATLAS Biochemistry:
dolichyl-phosphate alpha-N-acetylglucosamyltransferase (see D11S366)
UniProtKB/Swiss-Prot CatalyticActivity:
UDP-N-acetyl-D-glucosamine + dolichyl phosphate = UMP + N-acetyl-D-glucosaminyl-diphosphodolichol.
UniProtKB/Swiss-Prot Function:
Catalyzes the initial step in the synthesis of dolichol-P-P-oligosaccharides.

Enzyme Numbers (IUBMB) for DPAGT1 Gene

Phenotypes for DPAGT1 Gene

genes like me logo Genes that share phenotypes with DPAGT1: view

Human Phenotype Ontology for DPAGT1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for DPAGT1 Gene

MGI Knock Outs for DPAGT1:

Animal Model Products

miRNA for DPAGT1 Gene

miRTarBase miRNAs that target DPAGT1

No data available for Gene Ontology (GO) - Molecular Function , Transcription Factor Targets and HOMER Transcription for DPAGT1 Gene

Localization for DPAGT1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DPAGT1 Gene

Endoplasmic reticulum membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for DPAGT1 Gene COMPARTMENTS Subcellular localization image for DPAGT1 gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 4
extracellular 2
golgi apparatus 2
lysosome 1
mitochondrion 1
vacuole 1

Gene Ontology (GO) - Cellular Components for DPAGT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IDA 8179616
genes like me logo Genes that share ontologies with DPAGT1: view

Pathways & Interactions for DPAGT1 Gene

genes like me logo Genes that share pathways with DPAGT1: view

UniProtKB/Swiss-Prot Q9H3H5-GPT_HUMAN

  • Pathway: Protein modification; protein glycosylation.

Gene Ontology (GO) - Biological Process for DPAGT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008152 metabolic process IEA --
GO:0019408 dolichol biosynthetic process IDA 8179616
GO:0043687 post-translational protein modification TAS --
GO:0044267 cellular protein metabolic process TAS --
genes like me logo Genes that share ontologies with DPAGT1: view

No data available for SIGNOR curated interactions for DPAGT1 Gene

Drugs & Compounds for DPAGT1 Gene

(7) Drugs for DPAGT1 Gene - From: Novoseek and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Uridine-5'-Monophosphate Experimental Pharma 0
dolichol phosphate Pharma Competitive, Inhibitor 0

(8) Additional Compounds for DPAGT1 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Dolichol-20
  • Dolichol
  • Dolichol (C100)
  • Dolichol 20
  • Dolichol phosphate
  • Dolichyl phosphate
2067-66-5
N-Acetyl-D-glucosaminyldiphosphodolichol
  • N-Acetyl-D-glucosaminyl-diphosphodolichol
Uridine diphosphate-N-acetylglucosamine
  • N-[2-[[[5-[(2,4-Dioxo-1H-pyrimidin-1-yl)]-3,4-dihydroxy-tetrahydrofuran-2-yl]methoxy-hydroxy-phosphinoyl]oxy-hydroxy-phosphinoyl]oxy-4,5-dihydroxy-6-(hydroxymethyl)tetrahydropyran-3-yl]acetamide
  • UDP-a-D-N-Acetylglucosamine
  • UDP-Acetyl-D-glucosamine
  • UDP-Acetyl-delta-glucosamine
  • UDP-Acetylglucosamine
528-04-1
genes like me logo Genes that share compounds with DPAGT1: view

Transcripts for DPAGT1 Gene

Unigene Clusters for DPAGT1 Gene

Dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for DPAGT1 Gene

ExUns: 1 ^ 2a · 2b ^ 3a · 3b · 3c · 3d · 3e · 3f ^ 4a · 4b · 4c · 4d ^ 5a · 5b · 5c · 5d · 5e · 5f ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11a ·
SP1: - -
SP2: - - - - -
SP3: - - - -
SP4: - - - - - - - - - - - - - -
SP5: - - - - - - -
SP6: - - - - - - -
SP7: -
SP8:
SP9: - - -
SP10: - - - -
SP11:

ExUns: 11b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:

Relevant External Links for DPAGT1 Gene

GeneLoc Exon Structure for
DPAGT1
ECgene alternative splicing isoforms for
DPAGT1

Expression for DPAGT1 Gene

mRNA expression in normal human tissues for DPAGT1 Gene

Protein differential expression in normal tissues from HIPED for DPAGT1 Gene

This gene is overexpressed in Liver (8.7), Cardia (7.2), Monocytes (6.6), and Peripheral blood mononuclear cells (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for DPAGT1 Gene



SOURCE GeneReport for Unigene cluster for DPAGT1 Gene Hs.524081

genes like me logo Genes that share expression patterns with DPAGT1: view

Protein tissue co-expression partners for DPAGT1 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for DPAGT1 Gene

Orthologs for DPAGT1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for DPAGT1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia DPAGT1 35
  • 92.24 (n)
  • 93.63 (a)
DPAGT1 36
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia DPAGT1 35
  • 92.57 (n)
  • 95.59 (a)
DPAGT1 36
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Dpagt1 35
  • 89.95 (n)
  • 94.12 (a)
Dpagt1 16
Dpagt1 36
  • 94 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia DPAGT1 35
  • 99.84 (n)
  • 99.75 (a)
DPAGT1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Dpagt1 35
  • 90.44 (n)
  • 93.63 (a)
oppossum
(Monodelphis domestica)
Mammalia DPAGT1 36
  • 88 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DPAGT1 36
  • 64 (a)
OneToOne
chicken
(Gallus gallus)
Aves DPAGT1 35
  • 75.69 (n)
  • 83.46 (a)
DPAGT1 36
  • 78 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DPAGT1 36
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100487779 35
  • 73.73 (n)
  • 83.77 (a)
zebrafish
(Danio rerio)
Actinopterygii dpagt1 35
  • 69.55 (n)
  • 77.48 (a)
dpagt1 36
  • 76 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG5287 37
  • 55 (a)
CG5287 35
  • 58.82 (n)
  • 57.03 (a)
CG5287 36
  • 54 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008131 35
  • 58.83 (n)
  • 56.25 (a)
worm
(Caenorhabditis elegans)
Secernentea T08D2.2 37
  • 51 (a)
Y60A3A.14 37
  • 50 (a)
CELE_Y60A3A.14 35
  • 54.23 (n)
  • 52.79 (a)
T08D2.2 36
  • 46 (a)
OneToMany
Y60A3A.14 36
  • 48 (a)
OneToMany
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFL037W 35
  • 53.03 (n)
  • 45.94 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F06776g 35
  • 50.09 (n)
  • 44.17 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ALG7 35
  • 50.36 (n)
  • 44.59 (a)
ALG7 36
  • 38 (a)
OneToOne
ALG7 38
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G57220 35
  • 52.96 (n)
  • 51.71 (a)
rice
(Oryza sativa)
Liliopsida Os07g0661100 35
  • 54.21 (n)
  • 48.82 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU10762 35
  • 54.03 (n)
  • 46.43 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes gpt2 35
  • 49 (n)
  • 47.01 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6031 36
  • 52 (a)
OneToOne
Species with no ortholog for DPAGT1:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for DPAGT1 Gene

ENSEMBL:
Gene Tree for DPAGT1 (if available)
TreeFam:
Gene Tree for DPAGT1 (if available)

Paralogs for DPAGT1 Gene

No data available for Paralogs for DPAGT1 Gene

Variants for DPAGT1 Gene

Sequence variations from dbSNP and Humsavar for DPAGT1 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
VAR_011391 -
rs28934876 Congenital disorder of glycosylation 1J (CDG1J) 119,100,396(-) GTACT(A/G)TGTCT nc-transcript-variant, reference, missense
VAR_036422 A breast cancer sample
VAR_068810 Myasthenic syndrome, congenital, 13 (CMS13)
VAR_068811 Myasthenic syndrome, congenital, 13 (CMS13)

Structural Variations from Database of Genomic Variants (DGV) for DPAGT1 Gene

Variant ID Type Subtype PubMed ID
nsv898416 CNV Loss 21882294

Variation tolerance for DPAGT1 Gene

Residual Variation Intolerance Score: 17.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.61; 65.38% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for DPAGT1 Gene

HapMap Linkage Disequilibrium report
DPAGT1
Human Gene Mutation Database (HGMD)
DPAGT1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DPAGT1 Gene

Disorders for DPAGT1 Gene

MalaCards: The human disease database

(8) MalaCards diseases for DPAGT1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
myasthenic syndrome, congenital, 13, with tubular aggregates
  • myasthenic syndrome, congenital, with tubular aggregates 2
congenital disorder of glycosylation, type ij
  • congenital disorder of glycosylation 1j
congenital myasthenic syndromes with glycosylation defect
congenital myasthenic syndrome
  • familial infantile myasthenia 1
neuromuscular junction disease
  • neuromuscular junction diseases
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

GPT_HUMAN
  • 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. {ECO:0000269 PubMed:12872255}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Myasthenic syndrome, congenital, 13 (CMS13) [MIM:614750]: A 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. {ECO:0000269 PubMed:22742743}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for DPAGT1

Genetic Association Database (GAD)
DPAGT1
Human Genome Epidemiology (HuGE) Navigator
DPAGT1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DPAGT1
genes like me logo Genes that share disorders with DPAGT1: view

No data available for Genatlas for DPAGT1 Gene

Publications for DPAGT1 Gene

  1. Deficiency of UDP-GlcNAc:dolichol phosphate N-acetylglucosamine-1 phosphate transferase (DPAGT1) causes a novel congenital disorder of glycosylation type Ij. (PMID: 12872255) Wu X. … Freeze H.H. (Hum. Mutat. 2003) 3 4 23 67
  2. Structure, expression, and regulation of UDP-GlcNAc: dolichol phosphate GlcNAc-1-phosphate transferase (DPAGT1). (PMID: 19519349) Bretthauer R.K. (Curr Drug Targets 2009) 3 23
  3. Genomic structure of the human UDP-GlcNAc:dolichol-P GlcNAc-1-P transferase gene. (PMID: 12592703) Regis S. … Filocamo M. (DNA Seq. 2002) 3 23
  4. 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. (PMID: 9451016) Eckert V. … Schwarz R.T. (Glycobiology 1998) 3 23
  5. Major defect of carbohydrate-deficient-glycoprotein syndrome is not found in the synthesis of dolichyl phosphate or N-acetylglucosaminyl-pyrophosphoryl-dolichol. (PMID: 8179616) Yasugi E. … Oshima M. (Biochem. Biophys. Res. Commun. 1994) 3 23

Products for DPAGT1 Gene

Sources for DPAGT1 Gene

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