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 th... See more...

Aliases for DPAGT1 Gene

Aliases for DPAGT1 Gene

  • Dolichyl-Phosphate N-Acetylglucosaminephosphotransferase 1 2 3 5
  • GPT 2 3 4
  • Dolichyl-Phosphate (UDP-N-Acetylglucosamine) N-Acetylglucosaminephosphotransferase 1 (GlcNAc-1-P Transferase) 2 3
  • UDP-N-Acetylglucosamine--Dolichyl-Phosphate N-Acetylglucosaminephosphotransferase 1 2 3
  • UDP-N-Acetylglucosamine--Dolichyl-Phosphate N-Acetylglucosaminephosphotransferase 3 4
  • N-Acetylglucosamine-1-Phosphate Transferase 3 4
  • GlcNAc-1-P Transferase 1 2 3
  • EC 2.7.8.15 4 50
  • D11S366 2 3
  • CDG-Ij 2 3
  • DPAGT2 3 4
  • ALG7 2 3
  • DGPT 2 3
  • G1PT 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
  • GlcNAc-1-P Transferase 4
  • EC 2.7.8 50
  • CMSTA2 3
  • DPAGT1 5
  • CDG1J 3
  • CMS13 3
  • DPAGT 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 Congenital Disorder Of Glycosylation, Type Ij and Myasthenic Syndrome, Congenital, 13. Among its related pathways are N-Glycan biosynthesis and Metabolism of proteins. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring glycosyl groups and phospho-N-acetylmuramoyl-pentapeptide-transferase activity.

UniProtKB/Swiss-Prot Summary for DPAGT1 Gene

  • 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.

Gene Wiki entry for DPAGT1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DPAGT1 Gene

Genomics for DPAGT1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for DPAGT1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DPAGT1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DPAGT1

Top Transcription factor binding sites by QIAGEN in the DPAGT1 gene promoter:
  • AP-1
  • ATF-2
  • c-Fos
  • c-Jun
  • GATA-1
  • p53
  • YY1

Genomic Locations for DPAGT1 Gene

Latest Assembly
chr11:119,096,503-119,108,331
(GRCh38/hg38)
Size:
11,829 bases
Orientation:
Minus strand

Previous Assembly
chr11:118,967,220-118,972,563
(GRCh37/hg19 by Entrez Gene)
Size:
5,344 bases
Orientation:
Minus strand

chr11:118,967,213-118,979,041
(GRCh37/hg19 by Ensembl)
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
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    • Homodimer.

    Three dimensional structures from OCA and Proteopedia for DPAGT1 Gene

    Alternative splice isoforms for DPAGT1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DPAGT1 Gene

Selected DME Specific Peptides for DPAGT1 Gene

Q9H3H5:
  • KTGKLEMSYSKFKTK
  • GFVATVTLIPAFR
  • HFIAARLCGQDLNK
  • LSFLGTFILKVAE
  • AVVGILGHFSKT
  • ILGLHLDLGILYYVYMGLLAVFCTNAINILAGINGLEAG
  • HERNLTLLLLLLQ
  • FAVVGIL
  • NMTLINL

Post-translational modifications for DPAGT1 Gene

  • Glycosylation at Asn146
  • Ubiquitination at Lys48
  • Modification sites at PhosphoSitePlus

Domains & Families for DPAGT1 Gene

Gene Families for DPAGT1 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted membrane proteins

Protein Domains for DPAGT1 Gene

Suggested Antigen Peptide Sequences for DPAGT1 Gene

GenScript: Design optimal peptide antigens:
  • N-acetylglucosamine-1-phosphate transferase (GPT_HUMAN)

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

Function for DPAGT1 Gene

Molecular function for DPAGT1 Gene

UniProtKB/Swiss-Prot Function:
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.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=dolichyl phosphate + UDP-N-acetyl-alpha-D-glucosamine = N-acetyl-alpha-D-glucosaminyl-diphosphodolichol + UMP; Xref=Rhea:RHEA:13289, Rhea:RHEA-COMP:9517, Rhea:RHEA-COMP:9519, ChEBI:CHEBI:57683, ChEBI:CHEBI:57705, ChEBI:CHEBI:57865, ChEBI:CHEBI:58427; EC=2.7.8.15; Evidence={ECO:0000269|PubMed:29459785, ECO:0000269|PubMed:30388443, ECO:0000269|PubMed:9451016};.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=4.5 uM for UDP-N-acetylglucosamine {ECO:0000269|PubMed:30388443}; KM=36 uM for dolichol phosphate {ECO:0000269|PubMed:30388443}; Note=kcat is 0.21 min(-1) with UDP-N-acetylglucosamine. kcat is 0.20 min(-1) with dolichol phosphate. {ECO:0000269|PubMed:30388443};
UniProtKB/Swiss-Prot EnzymeRegulation:
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).
GENATLAS Biochemistry:
dolichyl-phosphate alpha-N-acetylglucosamyltransferase (see D11S366)

Enzyme Numbers (IUBMB) for DPAGT1 Gene

Phenotypes From GWAS Catalog for DPAGT1 Gene

Gene Ontology (GO) - Molecular Function for DPAGT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003975 UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity IEA,TAS --
GO:0003976 UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity IDA 6289658
GO:0005515 protein binding IPI 32814053
GO:0008963 phospho-N-acetylmuramoyl-pentapeptide-transferase activity IEA --
GO:0016740 transferase activity IEA --
genes like me logo Genes that share ontologies with DPAGT1: view
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 Models for research

  • Taconic Biosciences Mouse Models for DPAGT1

miRNA for DPAGT1 Gene

miRTarBase miRNAs that target DPAGT1

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DPAGT1

Clone products for research

No data available for 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DPAGT1 gene
Compartment Confidence
plasma membrane 3
endoplasmic reticulum 2
cytosol 2
golgi apparatus 2
extracellular 1
cytoskeleton 1
mitochondrion 1
nucleus 1
lysosome 1

Gene Ontology (GO) - Cellular Components for DPAGT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane IEA,TAS --
GO:0016020 membrane IEA,IDA 8179616
GO:0016021 integral component of membrane IEA,ISS --
GO:0030176 integral component of endoplasmic reticulum membrane NAS 12872255
genes like me logo Genes that share ontologies with DPAGT1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for DPAGT1 Gene

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:0006047 UDP-N-acetylglucosamine metabolic process IEA --
GO:0006486 protein glycosylation IEA --
GO:0006487 protein N-linked glycosylation IEA,IMP 19549906
GO:0006488 dolichol-linked oligosaccharide biosynthetic process IEA,TAS --
GO:0006489 dolichyl diphosphate biosynthetic process IBA 21873635
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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Uridine monophosphate Experimental Pharma 0
dolichol phosphate Pharma 0

(6) 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
  • N-[(2S,3R,4R,5S,6R)-4,5-Dihydroxy-2-{[hydroxy({[hydroxy({[(6E)-3,7,11-trimethyldodeca-6,10-dien-1-yl]oxy})phosphoryl]oxy})phosphoryl]oxy}-6-(hydroxymethyl)oxan-3-yl]ethanimidate
Uridine diphosphate-N-acetylglucosamine
  • (2R,3R,4R,5S,6R)-3-(Acetylamino)-4,5-dihydroxy-6-(hydroxymethyl)tetrahydro-2H-pyran-2-yl [(2R,3S,4R,5R)-5-(2,4-dioxo-3,4-dihydropyrimidin-1(2H)-yl)-3,4-dihydroxytetrahydrofuran-2-yl]methyl dihydrogen diphosphate (non-preferred name)
  • UDP-GlcNAc
  • UDP-N-Acetyl-D-glucosamine
  • UDP-N-Acetylglucosamine
  • URIDINE-diphosphATE-N-acetylglucosamine
528-04-1
genes like me logo Genes that share compounds with DPAGT1: view

Transcripts for DPAGT1 Gene

mRNA/cDNA for DPAGT1 Gene

2 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
19 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DPAGT1

Clone products for research

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

Expression for DPAGT1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for DPAGT1 Gene



Protein tissue co-expression partners for DPAGT1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DPAGT1

SOURCE GeneReport for Unigene cluster for DPAGT1 Gene:

Hs.524081

Evidence on tissue expression from TISSUES for DPAGT1 Gene

  • Lung(4.2)
  • Nervous system(4.2)
  • Intestine(2.7)
  • Kidney(2.3)
  • Muscle(2.1)
  • Skin(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for DPAGT1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • neck
  • skull
Thorax:
  • breast
  • heart
  • lung
  • rib
  • rib cage
Abdomen:
  • kidney
Pelvis:
  • pelvis
Limb:
  • ankle
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • shoulder
  • toe
  • upper limb
  • wrist
General:
  • blood vessel
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with DPAGT1: view

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
Chimpanzee
(Pan troglodytes)
Mammalia DPAGT1 29 30
  • 99.84 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia DPAGT1 29 30
  • 92.57 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia DPAGT1 29 30
  • 92.24 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Dpagt1 29
  • 90.44 (n)
Mouse
(Mus musculus)
Mammalia Dpagt1 29 16 30
  • 89.95 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia DPAGT1 30
  • 88 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia DPAGT1 30
  • 64 (a)
OneToOne
Chicken
(Gallus gallus)
Aves DPAGT1 29 30
  • 75.69 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia DPAGT1 30
  • 81 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia LOC100487779 29
  • 73.73 (n)
Zebrafish
(Danio rerio)
Actinopterygii dpagt1 29 30
  • 69.55 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008131 29
  • 58.83 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta CG5287 29 30 31
  • 58.82 (n)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea CELE_Y60A3A.14 29
  • 54.23 (n)
Y60A3A.14 30 31
  • 48 (a)
OneToMany
T08D2.2 30 31
  • 46 (a)
OneToMany
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_AFL037W 29
  • 53.03 (n)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ALG7 29 30 32
  • 50.36 (n)
OneToOne
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F06776g 29
  • 50.09 (n)
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT3G57220 29
  • 52.96 (n)
Rice
(Oryza sativa)
Liliopsida Os07g0661100 29
  • 54.21 (n)
Bread mold
(Neurospora crassa)
Ascomycetes NCU10762 29
  • 54.03 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.6031 30
  • 52 (a)
OneToOne
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes gpt2 29
  • 49 (n)
Species where no ortholog for DPAGT1 was found in the sources mined by GeneCards:
  • 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for DPAGT1: view image
Alliance of Genome Resources:
Additional Orthologs for DPAGT1

Paralogs for DPAGT1 Gene

No data available for Paralogs for DPAGT1 Gene

Variants for DPAGT1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DPAGT1 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
1000269 Uncertain Significance: DPAGT1-CDG; Congenital myasthenic syndrome 13 119,100,663(-) A/C
NM_001382.4(DPAGT1):c.463T>G (p.Phe155Val)
MISSENSE
1001621 Uncertain Significance: DPAGT1-CDG; Congenital myasthenic syndrome 13 119,101,642(-) G/A
NM_001382.4(DPAGT1):c.14C>T (p.Ser5Leu)
MISSENSE
1009921 Uncertain Significance: DPAGT1-CDG; Congenital myasthenic syndrome 13 119,097,149(-) A/C
NM_001382.4(DPAGT1):c.1154T>G (p.Leu385Arg)
MISSENSE
1011872 Uncertain Significance: DPAGT1-CDG; Congenital myasthenic syndrome 13 119,098,436(-) A/G
NM_001382.4(DPAGT1):c.695T>C (p.Phe232Ser)
MISSENSE
1016245 Uncertain Significance: DPAGT1-CDG; Congenital myasthenic syndrome 13 119,098,416(-) G/A
NM_001382.4(DPAGT1):c.715C>T (p.Leu239Phe)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for DPAGT1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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)

Additional Variant Information for DPAGT1 Gene

Human Gene Mutation Database (HGMD)
DPAGT1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DPAGT1
Leiden Open Variation Database (LOVD)
DPAGT1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for DPAGT1 Gene

Disorders for DPAGT1 Gene

MalaCards: The human disease database

(14) MalaCards diseases for DPAGT1 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

UniProtKB/Swiss-Prot

GPT_HUMAN
  • Congenital disorder of glycosylation 1J (CDG1J) [MIM:608093]: A 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. {ECO:0000269 PubMed:12872255, ECO:0000269 PubMed:30388443}. Note=The disease is caused by variants 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, ECO:0000269 PubMed:30388443}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for DPAGT1

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with DPAGT1: view

No data available for Genatlas for DPAGT1 Gene

Publications for DPAGT1 Gene

  1. Mutations in DPAGT1 cause a limb-girdle congenital myasthenic syndrome with tubular aggregates. (PMID: 22742743) Belaya K … Beeson D (American journal of human genetics 2012) 3 4 72
  2. 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 HH (Human mutation 2003) 3 4 22
  3. 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 RT (Glycobiology 1998) 3 4 22
  4. Structures of DPAGT1 Explain Glycosylation Disease Mechanisms and Advance TB Antibiotic Design. (PMID: 30388443) Dong YY … Carpenter EP (Cell 2018) 4 72
  5. GlcNAc-1-P-transferase-tunicamycin complex structure reveals basis for inhibition of N-glycosylation. (PMID: 29459785) Yoo J … Lee SY (Nature structural & molecular biology 2018) 3 4

Products for DPAGT1 Gene

Sources for DPAGT1 Gene