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DPAGT1 Gene

protein-coding   GIFtS: 67
GCID: GC11M118973

Dolichyl-Phosphate (UDP-N-Acetylglucosamine) N-Acetylglucosaminephosphotransferase...


(Previous symbols: DPAGT2, DPAGT)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Dolichyl-Phosphate (UDP-N-Acetylglucosamine)
N-Acetylglucosaminephosphotransferase 1 (GlcNAc-1-P Transferase)1 2
     ALG72
DPAGT21 2 3 5     CDG-Ij2
DPAGT1 2     D11S3662
G1PT2 3     UAGT2
GPT2 3     UGAT2
GlcNAc-1-P Transferase2 3     Dolichyl-Phosphate (UDP-N-Acetylglucosamine)
N-Acetylglucosaminephosphotransferase 1 (GlcNAc-1-P Tra2
N-Acetylglucosamine-1-Phosphate Transferase2 3     Dolichyl-Phosphate Alpha-N-Acetylglucosaminyltransferase2
EC 2.7.8.153 8     UDP-GlcNAc:Dolichyl-Phosphate N-Acetylglucosaminephosphotransferase2
CDG1J2 5     UDP-N-Acetylglucosamine--Dolichyl-Phosphate
N-Acetylglucosaminephosphotransferase2
CMSTA22 5     EC 2.7.88
DGPT2 5     

External Ids:    HGNC: 29951   Entrez Gene: 17982   Ensembl: ENSG000001722697   OMIM: 1913505   UniProtKB: Q9H3H53   

Export aliases for DPAGT1 gene to outside databases

Previous GC identifers: GC11M135549 GC11M120479 GC11M119001 GC11M118504 GC11M118472 GC11M114906


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)) is a protein-coding gene. Diseases associated with DPAGT1 include congenital myasthenic syndrome with tubular aggregates 2, and congenital disorder of glycosylation type 1j. GO annotations related to this gene include transferase activity, transferring glycosyl groups and phospho-N-acetylmuramoyl-pentapeptide-transferase activity.

UniProtKB/Swiss-Prot: GPT_HUMAN, Q9H3H5
Function: Catalyzes the initial step in the synthesis of dolichol-P-P-oligosaccharides

Gene Wiki entry for DPAGT1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000011.10  NT_033899.9  NC_018922.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the DPAGT1 gene promoter:
         c-Fos   p53   AP-1   ATF-2   c-Jun   GATA-1   YY1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidDPAGT1 promoter sequence
   Search Chromatin IP Primers for DPAGT1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat DPAGT1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 11q23.3   Ensembl cytogenetic band:  11q23.3   HGNC cytogenetic band: 11q23.3

DPAGT1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DPAGT1 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11M118973:  view genomic region     (about GC identifiers)

Start:
118,967,213 bp from pter      End:
118,979,041 bp from pter
Size:
11,829 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: GPT_HUMAN, Q9H3H5 (See protein sequence)
Recommended Name: UDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferase  
Size: 408 amino acids; 46090 Da
Secondary accessions: O15216 Q86WV9 Q9BWE6
Alternative splicing: 3 isoforms:  Q9H3H5-1   Q9H3H5-2   Q9H3H5-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for DPAGT1: NX_Q9H3H5

Explore proteomics data for DPAGT1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys48
  • Glycosylation2 at Asn146
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for DPAGT1 (Q9H3H5) (see all 9)
     NMTLINL  FAVVGIL  AVVGILGHFSKT  GFVATVTLIPAFR 


    See DPAGT1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001373.2  
    ENSEMBL proteins: 
     ENSP00000386597   ENSP00000346142   ENSP00000376579   ENSP00000402019   ENSP00000406591  
     ENSP00000404036  
    Reactome Protein details: Q9H3H5

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR000715 Glycosyl_transferase_4

    Graphical View of Domain Structure for InterPro Entry Q9H3H5

    ProtoNet protein and cluster: Q9H3H5

    UniProtKB/Swiss-Prot: GPT_HUMAN, Q9H3H5
    Similarity: Belongs to the glycosyltransferase 4 family


    DPAGT1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: GPT_HUMAN, Q9H3H5
    Function: Catalyzes the initial step in the synthesis of dolichol-P-P-oligosaccharides
    Catalytic activity: UDP-N-acetyl-D-glucosamine + dolichyl phosphate = UMP +
    N-acetyl-D-glucosaminyl-diphosphodolichol

         Genatlas biochemistry entry for DPAGT1:
    dolichyl-phosphate alpha-N-acetylglucosamyltransferase (see D11S366)

         Enzyme Numbers (IUBMB): EC 2.7.8.151 2 EC 2.7.82

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003975UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity IMP12872255
    GO:0008963phospho-N-acetylmuramoyl-pentapeptide-transferase activity IEA--
    GO:0016757transferase activity, transferring glycosyl groups IEA--
         
    DPAGT1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for DPAGT1:
     Synthetic lethal with Ras 

         3 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Dpagt1):
     embryogenesis  mortality/aging  normal 

    DPAGT1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Dpagt1tm1Jxm for DPAGT1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for DPAGT1
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    hsa-mir-98-5p (MIRT027764)

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    4 qRT-PCR Assays for microRNAs that regulate DPAGT1:
    hsa-miR-502-5p hsa-miR-4251 hsa-miR-589* hsa-miR-34a*
    SwitchGear 3'UTR luciferase reporter plasmidDPAGT1 3' UTR sequence
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    GPT_HUMAN, Q9H3H5: Endoplasmic reticulum membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    plasma membrane3
    golgi apparatus2
    lysosome1
    mitochondrion1
    vacuole1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005789endoplasmic reticulum membrane TAS--
    GO:0016020membrane IDA8179616
    GO:0016021integral component of membrane ISS--
    GO:0030176integral component of endoplasmic reticulum membrane NAS12872255
    GO:0043231intracellular membrane-bounded organelle IDA12872255

    DPAGT1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for DPAGT1 About    
    See pathways by source

    SuperPathContained pathways About
    1Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
    Asparagine N-linked glycosylation0.49
    Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein0.38
    N-Glycan biosynthesis0.49
    Metabolism of proteins0.30
    Post-translational protein modification0.43
    dolichyl-diphosphooligosaccharide biosynthesis0.00
    2Metabolism
    Metabolic pathways0.38

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for DPAGT1
        dolichyl-diphosphooligosaccharide biosynthesis


    1 Reactome Pathway for DPAGT1
        Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein


    2 Kegg Pathways  (Kegg details for DPAGT1):
        N-Glycan biosynthesis
    Metabolic pathways

    UniProtKB/Swiss-Prot: GPT_HUMAN, Q9H3H5
    Pathway: Protein modification; protein glycosylation


    DPAGT1 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for DPAGT1
    Interactions:

        Search GeneGlobe Interaction Network for DPAGT1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for DPAGT1 (Q9H3H53 ENSP000003461424) via UniProtKB, MINT, STRING, and/or I2D (see all 44)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    PHGDHO431753, ENSP000003584174I2D: score=5 STRING: ENSP00000358417
    HMGCRP040353, ENSP000002879364I2D: score=2 STRING: ENSP00000287936
    ALG6Q9Y6723, ENSP000003601494I2D: score=1 STRING: ENSP00000360149
    SOD1P004413, ENSP000002701424I2D: score=1 STRING: ENSP00000270142
    VPS53Q5VIR63, ENSP000004014354I2D: score=1 STRING: ENSP00000401435
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006047UDP-N-acetylglucosamine metabolic process IEA--
    GO:0006487protein N-linked glycosylation IMP19549906
    GO:0006488dolichol-linked oligosaccharide biosynthetic process TAS--
    GO:0018279protein N-linked glycosylation via asparagine TAS--
    GO:0019348dolichol metabolic process ----

    DPAGT1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for DPAGT1 (GPT)

    5 HMDB Compounds for DPAGT1    About this table
    CompoundSynonyms CAS #PubMed Ids
    Dolichol phosphatedolichol-phosphate (see all 6)34457-14-2--
    Dolichol-20Dolichol (C100) (see all 5)2067-66-5--
    N-Acetyl-D-glucosaminyldiphosphodolicholN-Acetyl-D-glucosaminyl-diphosphodolichol ----
    Uridine 5'-monophosphate5'-UMP (see all 12)58-97-9--
    Uridine diphosphate-N-acetylglucosamineN-[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 (see all 30)528-04-1--

    10 Novoseek inferred chemical compound relationships for DPAGT1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    glcnac-pp-dolichol 96.2 3 9162053 (1), 8034669 (1), 8940049 (1)
    dolichol 78.9 6 7945372 (2), 9451016 (1), 12495819 (1)
    mycophenolic acid 59.8 3 10683329 (1), 9621002 (1)
    tunicamycin 57 4 10517826 (3), 8034669 (1)
    6 thioguanine 46.3 2 9000174 (1)
    asparagine 25 3 1668306 (1), 12495819 (1)
    copper 8.85 1 9819469 (1)
    cholesterol 4.07 2 10396871 (1), 8025308 (1)
    creatinine 0 2 19034824 (1), 9203045 (1)
    ascorbic acid 0 1 8025308 (1)



    DPAGT1 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for DPAGT1 gene (2 alternative transcripts): 
    NM_001382.3  NM_203316.1  

    Unigene Cluster for DPAGT1:

    Dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)
    Hs.524081  [show with all ESTs]
    Unigene Representative Sequence: NM_001382
    15 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000409993 ENST00000354202(uc001pvi.3 uc001pvj.3 uc010rza.2)
    ENST00000392834 ENST00000461999(uc001pvm.1) ENST00000481084(uc001pvk.3)
    ENST00000414373 ENST00000442480 ENST00000525456 ENST00000524658 ENST00000530052
    ENST00000533687 ENST00000445653 ENST00000460183 ENST00000472016 ENST00000432443

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    hsa-miR-502-5p hsa-miR-4251 hsa-miR-589* hsa-miR-34a*
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    Additional mRNA sequence: 

    AK225994.1 AK301973.1 AK312783.1 BC000325.2 BC047771.1 BT006802.1 

    20 DOTS entries:

    DT.92440232  DT.100845818  DT.456051  DT.97789042  DT.97812731  DT.100845813  DT.100845817  DT.100805825 
    DT.100832971  DT.120710468  DT.95262319  DT.100695257  DT.100770718  DT.100845819  DT.120710434  DT.120710440 
    DT.120710474  DT.92440230  DT.95262317  DT.100845816 

    Selected AceView cDNA sequences (see all 248):

    AA833740 BQ021836 BE349533 AU100537 AK095718 BP345792 BQ222362 BF219746 
    BI818671 AA610074 BP374742 CB153587 AA378787 AW806678 BM982950 CA487273 
    BI833618 BP352947 AA628836 CA455106 BX280030 BM840624 BQ677730 AA962457 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for DPAGT1 (see all 11)    About this scheme

    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:                                                                          -     -     -     -     -     -     -                                             

    ExUns: 11b
    SP1:      
    SP2:      
    SP3:      
    SP4:      
    SP5:      


    ECgene alternative splicing isoforms for DPAGT1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    DPAGT1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTCTCAATGG
    DPAGT1 Expression
    About this image

    DPAGT1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    DPAGT1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.524081
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for DPAGT1 gene from Selected species (see all 24)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Dpagt11 , 5 dolichyl-phosphate (UDP-N-acetylglucosamine) acetylglucosaminephosphotransferase more1, 5 89.95(n)1
    94.12(a)1
      9 (24.84 cM)5
    134781  NM_007875.21  NP_031901.21 
     443268455 
    chicken
    (Gallus gallus)
    Aves DPAGT11 dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase more 75.69(n)
    83.46(a)
      419699  XM_417845.4  XP_417845.2 
    lizard
    (Anolis carolinensis)
    Reptilia DPAGT16
    dolichyl-phosphate (UDP-N-acetylglucosamine) N-ace...
    81(a)
    1 ↔ 1
    GL344481.1(13316-19775)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia LOC1004877791 UDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferase-like 73.73(n)
    83.77(a)
      100487779  XM_002935005.2  XP_002935051.2 
    zebrafish
    (Danio rerio)
    Actinopterygii dpagt11 dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase more 69.55(n)
    77.48(a)
      566539  NM_001089411.1  NP_001082880.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG52871 , 3
    UDP-N-acetylglucosamine-dolichyl-phosphate
    more3
    CG52871
    55(a)3
    58.82(n)1
    57.03(a)1
      34A83
    347111  NM_135764.41  NP_609608.11 
    worm
    (Caenorhabditis elegans)
    Secernentea T08D2.23
    CELE_Y60A3A.141
    CELE_Y60A3A.141 51(a)
    (best of 2)3
    54.23(n)1
    52.79(a)1
      X(116218-123951)3
    1904361  NM_075458.21  NP_507859.21 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes ALG7(YBR243C)4
    ALG71
    UDP-N-acetyl-glucosamine-1-P transferase, transfers more4
    ALG71
    50.36(n)1
    44.59(a)1
      2(706793-705447)4
    8525451, 4  NP_009802.31  NP_009802.14 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT3G572201 AT3G57220 52.96(n)
    51.71(a)
      824889  NM_115582.2  NP_191281.1 
    rice
    (Oryza sativa)
    Liliopsida NM_186018.12   -- 68.99(n)    NM_186018.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for DPAGT1 (see all 207)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs289348761,2,,4
    CCongenital disorder of glycosylation 1J (CDG1J)4 pathogenic1118835700(-) GTACTA/GTGTCT 2 Y C mis1 ese30--------
    VAR_0688144
    Myasthenic syndrome, congenital, with tubular aggregates, 2 (CMSTA2)4--see VAR_0688142 G S mis40--------
    VAR_0688124
    Myasthenic syndrome, congenital, with tubular aggregates, 2 (CMSTA2)4--see VAR_0688122 L M mis40--------
    VAR_0364224
    A breast cancer sample4--see VAR_0364222 M I mis40--------
    VAR_0688154
    Myasthenic syndrome, congenital, with tubular aggregates, 2 (CMSTA2)4--see VAR_0688152 V G mis40--------
    VAR_0688114
    Myasthenic syndrome, congenital, with tubular aggregates, 2 (CMSTA2)4--see VAR_0688112 V I mis40--------
    VAR_0688104
    Myasthenic syndrome, congenital, with tubular aggregates, 2 (CMSTA2)4--see VAR_0688102 M I mis40--------
    VAR_0688134
    Myasthenic syndrome, congenital, with tubular aggregates, 2 (CMSTA2)4--see VAR_0688132 G S mis40--------
    rs105442711,2
    C--114908409(+) TGGGT-/AGAGAGA 1 -- int10--------
    rs105958041,2
    C--114913043(+) ttttt-/T/TTT 
            
    gagac
    1 -- us2k11NA 2

    HapMap Linkage Disequilibrium report for DPAGT1 (118967213 - 118979041 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for DPAGT1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv898416CNV Loss21882294

    Human Gene Mutation Database (HGMD): DPAGT1
    Locus Specific Mutation Databases (LSDB): DPAGT1

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing DPAGT1
    DNA2.0 Custom Variant and Variant Library Synthesis for DPAGT1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 191350   
    OMIM disorders: 608093  614750  
    UniProtKB/Swiss-Prot: GPT_HUMAN, Q9H3H5
  • 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. Note=The disease is caused by mutations affecting the gene represented in this
    entry
  • 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. Note=The disease is caused by
    mutations affecting the gene represented in this entry

  • Selected diseases for DPAGT1 (see all 24):    
    About MalaCards
    congenital myasthenic syndrome with tubular aggregates 2    congenital disorder of glycosylation type 1j    congenital disorder of glycosylation, type ij    exotropia
    congenital disorder of glycosylation    congenital disorder of glycosylation, type it    acute intermittent porphyria    congenital myasthenic syndrome
    hepatic encephalopathy    porphyria    vaccinia    cerebrovascular disease
    hypotonia    glycogen storage disease    oral cancer    breast and colorectal cancer
    chronic lymphocytic leukemia    malaria    hepatitis    multiple myeloma

    3 diseases from the University of Copenhagen DISEASES database for DPAGT1:
    Congenital disorder of glycosylation     Congenital myasthenic syndrome     Exotropia

    DPAGT1 for disorders           About GeneDecksing

    2 Novoseek inferred disease relationships for DPAGT1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    smoking habit 14.2 2 2214298 (1), 10396871 (1)
    bleeding 0 2 2214298 (1), 19034824 (1)

    GeneTests: DPAGT1
    GeneReviews: DPAGT1
    Genetic Association Database (GAD): DPAGT1
    Human Genome Epidemiology (HuGE) Navigator: DPAGT1 (3 documents)

    Export disorders for DPAGT1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for DPAGT1 gene, integrated from 10 sources (see all 101):
    (articles sorted by number of sources associating them with DPAGT1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Deficiency of UDP-GlcNAc:dolichol phosphate N-acetylglucosamine-1 phosphate transferase (DPAGT1) causes a novel congenital disorder of glycosylation type Ij. (PubMed id 12872255)1, 2, 9 Wu X.... Freeze H.H. (Hum. Mutat. 2003)
    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. (PubMed id 9451016)1, 2, 9 Eckert V....Schwarz R.T. (Glycobiology 1998)
    3. Mutations in DPAGT1 cause a limb-girdle congenital myasthenic syndrome with tubular aggregates. (PubMed id 22742743)1, 2 Belaya K.... Beeson D. (Am. J. Hum. Genet. 2012)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    5. A sequence-tagged site map of human chromosome 11. (PubMed id 8244387)1, 3 Smith M.W....Lin Y. (Genomics 1993)
    6. Structure, expression, and regulation of UDP-GlcNAc: dolichol phosphate GlcNAc-1-phosphate transferase (DPAGT1). (PubMed id 19519349)1, 9 Bretthauer R.K. (Curr Drug Targets 2009)
    7. Genomic structure of the human UDP-GlcNAc:dolichol-P GlcNAc-1-P transferase gene. (PubMed id 12592703)1, 9 Regis S....Filocamo M. (DNA Seq. 2002)
    8. Major defect of carbohydrate-deficient-glycoprotein syndrome is not found in the synthesis of dolichyl phosphate or N-acetylglucosaminyl-pyrophosphoryl-dolichol. (PubMed id 8179616)1, 9 Yasugi E....Oshima M. (Biochem. Biophys. Res. Commun. 1994)
    9. A compound heterozygous mutation in DPAGT1 results in a congenital disorder of glycosylation with a relatively mild phenotype. (PubMed id 23249953)1 Iqbal Z....Riazuddin S. (Eur. J. Hum. Genet. 2013)
    10. Coordinate regulation of N-glycosylation gene DPAGT1, canonical Wnt signaling and E-cadherin adhesion. (PubMed id 23178939)1 Sengupta P.K....Kukuruzinska M.A. (J. Cell. Sci. 2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 1798 HGNC: 2995 AceView: DPAGT1 Ensembl:ENSG00000172269 euGenes: HUgn1798
    ECgene: DPAGT1 Kegg: 1798 H-InvDB: DPAGT1

    (According to HUGE)
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for DPAGT1 Pharmacogenomics, SNPs, Pathways
    GGDBhttp://jcggdb.jp/rcmg/ggdb/Homolog?cat=symbol&symbol=DPAGT1
    Functional Glycomics Gateway - GTasehttp://www.functionalglycomics.org/glycomics/molecule/jsp/glycoEnzyme/viewGlycoEnzyme.jsp?gbpId=gt_hum_543

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for DPAGT1 gene:
    Search GeneIP for patents involving DPAGT1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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