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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

DPAGT1 Gene

protein-coding   GIFtS: 63
GCID: GC11M119001

dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase...


(Previous symbols: DPAGT2, DPAGT)
 Explore 19 diseases affiliated with
DPAGT1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for DPAGT1    

Aliases
for DPAGT1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Dolichyl-Phosphate (UDP-N-Acetylglucosamine)
N-Acetylglucosaminephosphotransferase 1 (GlcNAc-1-P Transferase)1 2
     EC 2.7.8.153 8
DPAGT21 2 3 5     CDG1J2 5
GPT1 2 3     CMSTA22
DGPT1 2 5     UAGT2
ALG71 2     UGAT2
CDG-Ij1 2     Dolichyl-Phosphate (UDP-N-Acetylglucosamine)
N-Acetylglucosaminephosphotransferase 1 (GlcNAc-1-P Tra2
D11S3661 2     Dolichyl-Phosphate Alpha-N-Acetylglucosaminyltransferase2
DPAGT1 2     UDP-GlcNAc:Dolichyl-Phosphate N-Acetylglucosaminephosphotransferase2
G1PT2 3     UDP-N-Acetylglucosamine--Dolichyl-Phosphate
N-Acetylglucosaminephosphotransferase2
GlcNAc-1-P Transferase2 3     EC 2.7.88
N-Acetylglucosamine-1-Phosphate Transferase2 3     

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 GC11M118504 GC11M118472 GC11M114906


Summaries
for DPAGT1 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for DPAGT1:
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)

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

Gene Wiki entry for DPAGT1


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000011.9  NC_018922.1  NT_033899.8  
Regulatory elements:
   SABiosciences 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 plasmid: DPAGT1 promoter sequence
   Search SABiosciences Chromatin IP Primers for DPAGT1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 GC11M119001:  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

Proteins
for DPAGT1 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: GPT_HUMAN, Q9H3H5 (See protein sequence)
Recommended Name: UDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferase  
Size: 408 amino acids; 46090 Da
Subcellular location: Endoplasmic reticulum membrane; Multi-pass membrane protein
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9H3H5

    • 4/9 DME Specific Peptides for DPAGT1 (Q9H3H5) (see all 9)
     NMTLINL  FAVVGIL  AVVGILGHFSKT  GFVATVTLIPAFR 

    DPAGT1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_001373.2  
    ENSEMBL proteins: 
     ENSP00000386597   ENSP00000346142   ENSP00000376579   ENSP00000402019   ENSP00000406591  
     ENSP00000404036  
    Reactome Protein details: Q9H3H5
    Human Recombinant Protein Products: 
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    Uscn Proteins for DPAGT1

    Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005624membrane fraction ----
    GO:0005789endoplasmic reticulum membrane TAS--
    GO:0005792microsome ----
    GO:0016020membrane IDA8179616
    GO:0016021integral to membrane ISS--


    DPAGT1 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for DPAGT1

    Protein Domains /
    Families
    for DPAGT1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    DPAGT1 for domains           About GeneDecksing

    1 InterPro domain/family:
     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


    Function
    for DPAGT1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: 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

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat DPAGT1
    4 QIAGEN miScript miRNA Assays for microRNAs that regulate DPAGT1:
    hsa-miR-502-5p hsa-miR-4251 hsa-miR-589* hsa-miR-34a*
    SwitchGear 3'UTR luciferase reporter plasmid: DPAGT1 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    Clone
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    Cell Line
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    In Situ Assay
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    Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    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


    1 GenomeRNAi human phenotype for DPAGT1:
     Synthetic lethal with Ras 

    Animal Models:
         Mouse knock-out Dpagt1tm1Jxm for DPAGT1
         3 MGI mutant phenotypes (inferred from 3 alleles) (MGI details for Dpagt1):
     embryogenesis  mortality/aging  normal 

    DPAGT1 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for DPAGT1 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Asparagine N-linked glycosylation
    		Asparagine N-linked glycosylation1.00
    		Post-translational protein modification0.44
    		N-Glycan biosynthesis0.52
    		Metabolism of proteins0.15
    2Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
    		Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein1.00
    		dolichyl-diphosphooligosaccharide biosynthesis0.33
    3Metabolism
    		Metabolic pathways0.38

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    1 BioSystems Pathway for DPAGT1 
        dolichyl-diphosphooligosaccharide biosynthesis

    4        Reactome Pathways for DPAGT1
        Asparagine N-linked glycosylation
    Metabolism of proteins
    Post-translational protein modification
    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

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for DPAGT1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 17)

    5/36 Interacting proteins for DPAGT1 (Q9H3H53 ENSP000003461424) via UniProtKB, MINT, STRING, and/or I2D (see all 36)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    PPATQ062033, ENSP000002642204I2D: score=4 STRING: ENSP00000264220
    HMGCRP040353, ENSP000002879364I2D: score=2 STRING: ENSP00000287936
    ALG6Q9Y6723, ENSP000003601494I2D: score=1 STRING: ENSP00000360149
    SOD1P004413, ENSP000002701424I2D: score=1 STRING: ENSP00000270142
    POLR2BP308763, ENSP000003127354I2D: score=4 STRING: ENSP00000312735
    About this table

    Gene Ontology (GO): 5/9 biological process terms (GO ID links to tree view) (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



    Drugs & Compounds
    for DPAGT1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    DPAGT1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for DPAGT1

    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 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)

    Search CenterWatch for drugs/clinical trials and news about DPAGT1 / GPT 

    Transcripts
    for DPAGT1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    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


    miRNA
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    hsa-miR-502-5p hsa-miR-4251 hsa-miR-589* hsa-miR-34a*
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    Inhib. RNA
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    Additional cDNA sequence: 

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

    21 DOTS entries:

    DT.92440232  DT.100845818  DT.456051  DT.97789042  DT.100845813  DT.97812731  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  DT.97787608 

    24/248 AceView cDNA sequences (see all 248):

    AU100537 BE349533 BP345792 CN482247 CB153587 BQ877709 BP368453 AA962457 
    AU107452 AA610074 BG393784 BP352947 AA628836 BG822801 BQ647280 AA557488 
    CR603487 AA806453 BI818671 BQ677730 BQ021836 BP355093 NM_203316 AK095718 

    GeneLoc Exon Structure

    5/11 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

    Expression
    for DPAGT1 gene

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    DPAGT1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CTCTCAATGG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image
    See DPAGT1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for DPAGT1

    SOURCE GeneReport for Unigene cluster: Hs.524081
        SABiosciences Custom PCR Arrays for DPAGT1
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    Orthologs
    for DPAGT1 gene

    (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)
    About This Section
    This gene was present in the common ancestor of eukaryotes.

    Orthologs for DPAGT1 gene from 9/34 species (see all 34)    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_417845.3  XP_417845.2 
    lizard
    (Anolis carolinensis)    		 Reptilia DPAGT16
    		 --
    		 82(a)
    		 1 ↔ 1
    		 GL344481.1(13337-18350)
    zebrafish
    (Danio rerio)    		 Actinopterygii dpagt11 dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase more 69.75(n)
    77.75(a)    		   566539  NM_001089411.1  NP_001082880.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta CG52871 , 3 UDP-N-acetylglucosamine-dolichyl-phosphate
    N-acetylglucosamine-1-phosphate more3
    CG52871    		 55(a)3
    58.52(n)1
    56.74(a)1    		   34A83
    347111  NM_135764.31  NP_609608.11 
    worm
    (Caenorhabditis elegans)    		 Secernentea T08D2.23
    CELE_Y60A3A.141    		 Protein Y60A3A.141 51(a)
    (best of 2)3
    53.25(n)1
    50.89(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
    Alg7p1    		 50.18(n)1
    44.71(a)1    		   2(706793-705447)4
    8525451, 4  NP_009802.31  NP_009802.14 
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons AT3G572201 UDP-N-acetylglucosamine--dolichyl-phosphate 52.96(n)
    51.6(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
    for DPAGT1 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    		  --

    Genomic Variants
    for DPAGT1 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/150 NCBI SNPs in DPAGT1 are shown (see all 150)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 11 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs289348761,2
    		Cpathogenic118463464(-) GTACTA/GTGTCT 2 Y C mis1 ese32Minor allele frequency- G:0.00NA 4
    rs1113056301,2
    		--114906347(+) AATTCT/CTGGGC 1 -- ds50011Minor allele frequency- C:0.00CSA 1
    rs289909761,2
    		C--114906670(-) TTTCTT/-ATTGT 1 -- ut31 trp37Minor allele frequency- -:0.01NS NA 172
    rs289909751,2
    		C,F,H,--114906730(-) ATTAGT/GAAGAA 1 -- ut31 ese314Minor allele frequency- G:0.03NS NA WA 1478
    rs289909741,2
    		C,F,H,--114906892(-) CTCATA/GGGGTG 1 -- ut31 ese311Minor allele frequency- G:0.02EA NS NA 650
    rs746575391,2
    		--114906916(+) GATGGA/GGAGGG 1 -- ut311Minor allele frequency- G:0.01NA 120
    rs749926711,2
    		F,--114906998(+) GGATGC/TCAATG 1 -- ut311Minor allele frequency- T:0.03WA 118
    rs778363711,2
    		C,--114907459(+) CACCTA/GGAGGG 1 -- int10--------
    rs735626441,2
    		C,F,--114907923(+) TGGGCC/ACACTC 1 -- int12Minor allele frequency- A:0.50WA 4
    rs745185191,2
    		--114908509(+) AAGGGC/TCATCT 1 -- int11Minor allele frequency- T:0.01EA 120

    HapMap Linkage Disequilibrium report for DPAGT1 (118967213 - 118979041 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for DPAGT1: --
    Human Gene Mutation Database (HGMD): DPAGT1

    Locus Specific Mutation Databases (LSDB): DPAGT1

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    Disorders / Diseases
    for DPAGT1 gene

    (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.)
    About This Section
    DPAGT1 for disorders           About GeneDecksing

    OMIM gene information: 191350   
    OMIM disorders: 608093  
    UniProtKB/Swiss-Prot: GPT_HUMAN, Q9H3H5
  • Defects in DPAGT1 are the cause of congenital disorder of glycosylation type 1J (CDG1J) [MIM:608093]. CDGs are
    • a family of severe inherited diseases caused by a defect in protein N-glycosylation. They are characterized by
    under-glycosylated serum proteins. These multisystem disorders present with a wide variety of clinical features, such
    as disorders of 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
  • Defects in DPAGT1 are the cause of 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

    19 diseases for DPAGT1:    About MalaCards
    congenital disorder of glycosylation    congenital disorder of glycosylation type 1j    acute intermittent porphyria    glycogen storage disease
    exotropia    porphyria    chronic lymphocytic leukemia    lymphocytic leukemia
    hepatic encephalopathy    cerebrovascular disease    hypotonia    vaccinia
    oral cancer    leukemia    hepatitis    cholesterol
    immunodeficiency    malaria    alcoholism

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

    2 Novoseek 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
    Congenital Disorders of Glycosylation

    Human Genome Epidemiology (HuGE) Navigator: DPAGT1 (3 documents)

    Export disorders for DPAGT1 gene to outside databases

    Publications
    for DPAGT1 gene

    (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)
    About This Section

    PubMed articles for DPAGT1 gene, integrated from 9 sources (see all 92):
    (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. (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. (1998)
    3. Mutations in DPAGT1 cause a limb-girdle congenital myasthenic syndrome with tubular aggregates. (PubMed id 22742743)1, 2 Belaya K.... Beeson D. (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. (2004)
    5. A sequence-tagged site map of human chromosome 11. (PubMed id 8244387)1, 3 Smith M.W....Lin Y. (1993)
    6. Structure, expression, and regulation of UDP-GlcNAc: dolichol phosphate GlcNAc-1-phosphate transferase (DPAGT1). (PubMed id 19519349)1, 9 Bretthauer R.K. (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. (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. (1994)
    9. Aberrant amplification of the crosstalk between canoni cal Wnt signaling and N-glycosylation gene DPAGT1 promotes oral cancer. (PubMed id 22341307)1 Jamal B....Kukuruzinska M.A. (2012)
    10. Methods for quantification of in vivo changes in prote in ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (2012)

    External Searches for DPAGT1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
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      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing DPAGT1 gene

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

    Other Databases showing DPAGT1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing DPAGT1 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for DPAGT1 Pharmacogenomics, SNPs, Pathways
    GGDBhttp://riodb.ibase.aist.go.jp/rcmg/ggdb/
    Functional Glycomics Gateway - GTasehttp://www.functionalglycomics.org/glycomics/molecule/jsp/glycoEnzyme/viewGlycoEnzyme.jsp?gbpId=gt_hum_543

    Intellectual Property
    for DPAGT1 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		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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