Free for academic non-profit institutions. Other users need a Commercial license

Aliases for DPAGT1 Gene

Aliases for DPAGT1 Gene

  • Dolichyl-Phosphate N-Acetylglucosaminephosphotransferase 1 2 3 5
  • Dolichyl-Phosphate (UDP-N-Acetylglucosamine) N-Acetylglucosaminephosphotransferase 1 (GlcNAc-1-P Transferase) 2 3
  • UDP-N-Acetylglucosamine--Dolichyl-Phosphate N-Acetylglucosaminephosphotransferase 1 2 3
  • N-Acetylglucosamine-1-Phosphate Transferase 3 4
  • GlcNAc-1-P Transferase 1 2 3
  • DPAGT2 3 4
  • G1PT 3 4
  • GPT 3 4
  • Dolichyl-Phosphate (UDP-N-Acetylglucosamine) N-Acetylglucosaminephosphotransferase 1 (GlcNAc-1-P Tra 3
  • UDP-N-Acetylglucosamine--Dolichyl-Phosphate N-Acetylglucosaminephosphotransferase 3
  • UDP-GlcNAc:Dolichyl-Phosphate N-Acetylglucosaminephosphotransferase 3
  • Dolichyl-Phosphate Alpha-N-Acetylglucosaminyltransferase 3
  • GlcNAc-1-P Transferase 4
  • EC 2.7.8.15 4
  • 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 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 for DPAGT1 Gene

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

Gene Wiki entry for DPAGT1 Gene

Additional gene information for DPAGT1 Gene

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

Genomics for DPAGT1 Gene

GeneHancer (GH) Regulatory Elements for DPAGT1 Gene

Promoters and enhancers for DPAGT1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11J119106 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 663.4 +0.4 352 3.9 HDGF PKNOX1 CLOCK FOXA2 SMAD1 ARNT ARID4B SIN3A DMAP1 POLR2B DPAGT1 C2CD2L HINFP CCDC84 ARCN1 VPS11 ENSG00000254909 UBE4A RPL23AP64 ENSG00000254428
GH11J119100 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 650.4 +6.2 6164 3.9 HDGF PKNOX1 SMAD1 FOXA2 ARNT ARID4B SIN3A DMAP1 IRF4 YY1 C2CD2L DPAGT1 HINFP NLRX1 VPS11 CCDC84 KMT2A RNF26 ABCG4 ARCN1
GH11J118906 Promoter/Enhancer 2.9 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 32.5 +189.5 189538 24.6 CLOCK MLX ZFP64 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 BCL9L UPK2 ARCN1 DPAGT1 CCDC84 RNF26 UBE4A ENSG00000254909 VPS11 KMT2A
GH11J119090 Promoter/Enhancer 2 Ensembl ENCODE dbSUPER 29.3 +14.7 14659 5.9 DMAP1 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 NFYC ZFP41 GLIS1 H2AFX GC11M119097 KMT2A HINFP UBE4A RPL5P30 ARCN1 BCL9L VPS11 CCDC84
GH11J119066 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 24 +40.6 40645 2.2 HDGF PKNOX1 CLOCK MLX ARNT ZFP64 ARID4B SIN3A DMAP1 YY1 VPS11 ENSG00000272186 HYOU1 DPAGT1 HMBS ARCN1 H2AFX C2CD2L KMT2A ENSG00000254909
- 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 UCSC Golden Path with GeneCards custom track

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

Genomic Locations for DPAGT1 Gene

Genomic Locations for DPAGT1 Gene
chr11:119,096,503-119,108,331
(GRCh38/hg38)
Size:
11,829 bases
Orientation:
Minus strand
chr11:118,967,213-118,979,041
(GRCh37/hg19)
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

    Three dimensional structures from OCA and Proteopedia for DPAGT1 Gene

    Alternative splice isoforms for DPAGT1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DPAGT1 Gene

Post-translational modifications for DPAGT1 Gene

  • Glycosylation at Asn146
  • Ubiquitination at posLast=4848
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for DPAGT1 Gene

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

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

Function for DPAGT1 Gene

Molecular function for DPAGT1 Gene

UniProtKB/Swiss-Prot Function:
Catalyzes the initial step in the synthesis of dolichol-P-P-oligosaccharides.
UniProtKB/Swiss-Prot CatalyticActivity:
UDP-N-acetyl-D-glucosamine + dolichyl phosphate = UMP + N-acetyl-D-glucosaminyl-diphosphodolichol.
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 TAS --
GO:0003976 UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity IDA 6289658
GO:0008963 phospho-N-acetylmuramoyl-pentapeptide-transferase activity IEA --
GO:0016740 transferase activity IEA --
GO:0016757 transferase activity, transferring glycosyl groups 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 Model Products

  • Taconic Biosciences Mouse Models for DPAGT1

CRISPR Products

miRNA for DPAGT1 Gene

miRTarBase miRNAs that target DPAGT1

Inhibitory RNA Products

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

Clone Products

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
endoplasmic reticulum 5
plasma membrane 4
golgi apparatus 2
extracellular 1
mitochondrion 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 IBA,TAS --
GO:0016020 membrane IDA,IEA 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 IMP,IEA 19549906
GO:0006488 dolichol-linked oligosaccharide biosynthetic process TAS,IEA --
GO:0006489 dolichyl diphosphate biosynthetic process IBA --
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

(8) 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 Competitive, Inhibitor 0

(7) 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
  • (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

Unigene Clusters for DPAGT1 Gene

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

CRISPR Products

Inhibitory RNA Products

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

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP 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

NURSA nuclear receptor signaling pathways regulating expression of DPAGT1 Gene:

DPAGT1

SOURCE GeneReport for Unigene cluster for DPAGT1 Gene:

Hs.524081

Evidence on tissue expression from TISSUES for DPAGT1 Gene

  • Nervous system(4.3)
  • Lung(4.2)
  • Muscle(2.8)
  • Liver(2.6)
  • Intestine(2.2)
  • Kidney(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 34 33
  • 99.84 (n)
OneToOne
dog
(Canis familiaris)
Mammalia DPAGT1 34 33
  • 92.57 (n)
OneToOne
cow
(Bos Taurus)
Mammalia DPAGT1 34 33
  • 92.24 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Dpagt1 33
  • 90.44 (n)
mouse
(Mus musculus)
Mammalia Dpagt1 16 34 33
  • 89.95 (n)
oppossum
(Monodelphis domestica)
Mammalia DPAGT1 34
  • 88 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DPAGT1 34
  • 64 (a)
OneToOne
chicken
(Gallus gallus)
Aves DPAGT1 34 33
  • 75.69 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DPAGT1 34
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100487779 33
  • 73.73 (n)
zebrafish
(Danio rerio)
Actinopterygii dpagt1 34 33
  • 69.55 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008131 33
  • 58.83 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG5287 34 35 33
  • 58.82 (n)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea CELE_Y60A3A.14 33
  • 54.23 (n)
Y60A3A.14 34 35
  • 48 (a)
OneToMany
T08D2.2 34 35
  • 46 (a)
OneToMany
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFL037W 33
  • 53.03 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ALG7 36 34 33
  • 50.36 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F06776g 33
  • 50.09 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G57220 33
  • 52.96 (n)
rice
(Oryza sativa)
Liliopsida Os07g0661100 33
  • 54.21 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU10762 33
  • 54.03 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6031 34
  • 52 (a)
OneToOne
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes gpt2 33
  • 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 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

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 Variation AA Info Type
rs138544311 uncertain-significance, likely-benign, not specified, Acute intermittent porphyria, Congenital disorder of glycosylation type 1J, Congenital myasthenic syndrome 13 119,097,475(-) A/C 3_prime_UTR_variant, coding_sequence_variant, intron_variant, missense_variant, non_coding_transcript_variant
rs141116509 uncertain-significance, Congenital disorder of glycosylation 119,102,004(-) A/G 5_prime_UTR_variant, genic_upstream_transcript_variant, non_coding_transcript_variant, upstream_transcript_variant
rs186992584 uncertain-significance, Congenital disorder of glycosylation 119,101,701(-) G/A 5_prime_UTR_variant, non_coding_transcript_variant
rs201656540 uncertain-significance, likely-benign, Congenital disorder of glycosylation, not specified 119,097,555(-) C/T intron_variant
rs28934876 pathogenic, Congenital disorder of glycosylation type 1J, Congenital disorder of glycosylation 1J (CDG1J) [MIM:608093] 119,100,396(-) T/C 5_prime_UTR_variant, coding_sequence_variant, missense_variant, non_coding_transcript_variant

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

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

(17) MalaCards diseases for DPAGT1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

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}. 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.

Additional Disease Information for DPAGT1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 HH (Human mutation 2003) 3 4 22 58
  2. 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 58
  3. 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 58
  4. Structure, expression, and regulation of UDP-GlcNAc: dolichol phosphate GlcNAc-1-phosphate transferase (DPAGT1). (PMID: 19519349) Bretthauer RK (Current drug targets 2009) 3 22 58
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58

Products for DPAGT1 Gene

Sources for DPAGT1 Gene

Content
Loading form....