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    DPAGT1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 [ Homo sapiens (human) ]

    Gene ID: 1798, updated on 11-Apr-2024

    Summary

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    Official Symbol
    DPAGT1provided by HGNC
    Official Full Name
    dolichyl-phosphate N-acetylglucosaminephosphotransferase 1provided by HGNC
    Primary source
    HGNC:HGNC:2995
    See related
    Ensembl:ENSG00000172269 MIM:191350; AllianceGenome:HGNC:2995
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    GPT; ALG7; DGPT; G1PT; UAGT; UGAT; CDG1J; CMS13; DPAGT; CDG-Ij; CMSTA2; DPAGT2; D11S366
    Summary
    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]
    Expression
    Ubiquitous expression in thyroid (RPKM 9.9), urinary bladder (RPKM 8.6) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    11q23.3
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (119093874..119101853, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (119114257..119122234, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (118967220..118972563, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5619 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5620 Neighboring gene VPS11 core subunit of CORVET and HOPS complexes Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:118955192-118955889 Neighboring gene hydroxymethylbilane synthase Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:118963458-118963970 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:118965105-118965668 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:118965669-118966232 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:118966233-118966796 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:118966797-118967358 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr11:118972216-118973415 Neighboring gene H2A.X variant histone Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3968 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3969 Neighboring gene C2CD2 like Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3970 Neighboring gene histone H4 transcription factor

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Novel DPAGT1 Gene Mutation in Two Twins with Congenital Myasthenic Syndrome and a Review of the Literature. Cheli M, et al. J Neuromuscul Dis, 2023. PMID 37005892
    2. Congenital glycosylation disorder: a novel presentation of coexisting anterior and posterior segment pathology and its implications in pediatric cataract management. Etzel JD, et al. J AAPOS, 2019 Oct. PMID 31153949
    3. Congenital myasthenia and congenital disorders of glycosylation caused by mutations in the DPAGT1 gene. Ibáñez-Micó S, et al. Neurologia (Engl Ed), 2019 Mar. PMID 28712839
    4. DPAGT1-CDG: Functional analysis of disease-causing pathogenic mutations and role of endoplasmic reticulum stress. Yuste-Checa P, et al. PLoS One, 2017. PMID 28662078, Free PMC Article
    5. N-acetylglucosaminyl 1-phosphate transferase: an excellent target for developing new generation breast cancer therapeutic. Banerjee A, et al. Adv Exp Med Biol, 2015. PMID 25408354, Free PMC Article

    See all (54) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. DPAGT1-CDG: Recurrent fetal death.
      Title: DPAGT1-CDG: Recurrent fetal death.
    2. Novel DPAGT1 Gene Mutation in Two Twins with Congenital Myasthenic Syndrome and a Review of the Literature.
      Title: Novel DPAGT1 Gene Mutation in Two Twins with Congenital Myasthenic Syndrome and a Review of the Literature.
    3. LncRNA LINC00467 acted as an oncogene in esophageal squamous cell carcinoma by accelerating cell proliferation and preventing cell apoptosis via the miR-485-5p/DPAGT1 axis.
      Title: LncRNA LINC00467 acted as an oncogene in esophageal squamous cell carcinoma by accelerating cell proliferation and preventing cell apoptosis via the miR-485-5p/DPAGT1 axis.
    4. Congenital glycosylation disorder: a novel presentation of coexisting anterior and posterior segment pathology and its implications in pediatric cataract management.
      Title: Congenital glycosylation disorder: a novel presentation of coexisting anterior and posterior segment pathology and its implications in pediatric cataract management.
    5. NFAT5 promotes oral squamous cell carcinoma progression in a hyperosmotic environment.
      Title: NFAT5 promotes oral squamous cell carcinoma progression in a hyperosmotic environment.
    6. we studied serum asialotransferrin (2009), which revealed a type 1 pattern compatible with type 1 glycosylation. Diagnosis of DPAGT1-CDG was confirmed by massive sequencing, which identified 2 mutations: c.329T>C (p.Phe110Ser, which had not previously been described), and c.902G>A (p.Arg301His) in the DPAGT1 gene.
      Title: Congenital myasthenia and congenital disorders of glycosylation caused by mutations in the DPAGT1 gene.
    7. present work improves our knowledge of DPAGT1-CDG and provides bases for developing tailored splicing and folding therapies
      Title: DPAGT1-CDG: Functional analysis of disease-causing pathogenic mutations and role of endoplasmic reticulum stress.
    8. Data suggest that N-acetylglucosaminyl 1-phosphate transferase is a breast cancer therapeutic target.
      Title: N-acetylglucosaminyl 1-phosphate transferase: an excellent target for developing new generation breast cancer therapeutic.
    9. Studies show that cells coordinate DPAGT1 expression and protein N-glycosylation with canonical Wnt signaling and E-cadherin adhesion via positive and negative feedback mechanisms.
      Title: Coordinate regulation of N-glycosylation gene DPAGT1, canonical Wnt signaling and E-cadherin adhesion.
    10. prominent limb-girdle weakness and minimal craniobulbar symptoms who harbour a novel mutation in DPAGT1
      Title: Clinical features in a large Iranian family with a limb-girdle congenital myasthenic syndrome due to a mutation in DPAGT1.
    Submit: New GeneRIF Correction See all GeneRIFs (21)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity TAS
    Traceable Author Statement
    more info
    		  
    enables UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables glycosyltransferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables identical protein binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in UDP-N-acetylglucosamine metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in dolichol-linked oligosaccharide biosynthetic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in dolichol-linked oligosaccharide biosynthetic process TAS
    Traceable Author Statement
    more info
    		  
    involved_in protein N-linked glycosylation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in endoplasmic reticulum membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    UDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferase
    Names
    GlcNAc-1-P transferase 1
    N-acetylglucosamine-1-phosphate transferase
    UDP-GlcNAc:dolichyl-phosphate N-acetylglucosaminephosphotransferase
    UDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferase 1
    dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P tra
    dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)
    dolichyl-phosphate alpha-N-acetylglucosaminyltransferase
    NP_001373.2
    XP_005271479.1
    XP_011540950.1
    XP_016872783.1
    XP_016872784.1
    XP_047282464.1
    XP_047282465.1
    XP_047282466.1
    XP_054223903.1
    XP_054223904.1
    XP_054223905.1
    XP_054223906.1
    XP_054223907.1
    XP_054223908.1
    XP_054223909.1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_008918.1 RefSeqGene

      Range
      5223..10566
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001382.4 → NP_001373.2  UDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferase

      See identical proteins and their annotated locations for NP_001373.2

      Status: REVIEWED

      Source sequence(s)
      BC000325, DA023424
      Consensus CDS
      CCDS8411.1
      UniProtKB/Swiss-Prot
      O15216, Q86WV9, Q9BWE6, Q9H3H5
      UniProtKB/TrEMBL
      B3KY32
      Related
      ENSP00000346142.4, ENST00000354202.9
      Conserved Domains (1) summary
      cd06855
      Location:29 → 317
      GT_GPT_euk; UDP-GlcNAc:dolichol-P GlcNAc-1-P transferase (GPT) catalyzes the transfer of GlcNAc-1-P from UDP-GlcNAc to dolichol-P to form GlcNAc-P-P-dolichol. The reaction is the first step in the assembly of dolichol-linked oligosaccharide intermediates and is ...

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      119093874..119101853 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047426508.1 → XP_047282464.1  UDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferase isoform X2

      UniProtKB/Swiss-Prot
      O15216, Q86WV9, Q9BWE6, Q9H3H5

    2. XM_017017295.2 → XP_016872784.1  UDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferase isoform X7

    3. XM_011542648.3 → XP_011540950.1  UDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferase isoform X3

      UniProtKB/TrEMBL
      B4DXH3
      Conserved Domains (1) summary
      cd06855
      Location:1 → 210
      GT_GPT_euk; UDP-GlcNAc:dolichol-P GlcNAc-1-P transferase (GPT) catalyzes the transfer of GlcNAc-1-P from UDP-GlcNAc to dolichol-P to form GlcNAc-P-P-dolichol. The reaction is the first step in the assembly of dolichol-linked oligosaccharide intermediates and is ...

    4. XM_005271422.4 → XP_005271479.1  UDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferase isoform X1

      UniProtKB/TrEMBL
      B3KY32
      Related
      ENST00000682192.1
      Conserved Domains (1) summary
      cd06855
      Location:29 → 317
      GT_GPT_euk; UDP-GlcNAc:dolichol-P GlcNAc-1-P transferase (GPT) catalyzes the transfer of GlcNAc-1-P from UDP-GlcNAc to dolichol-P to form GlcNAc-P-P-dolichol. The reaction is the first step in the assembly of dolichol-linked oligosaccharide intermediates and is ...

    5. XM_047426510.1 → XP_047282466.1  UDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferase isoform X5

    6. XM_047426509.1 → XP_047282465.1  UDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferase isoform X4

      UniProtKB/TrEMBL
      A0A804HKZ3
      Related
      ENSP00000508129.1, ENST00000682326.1

    7. XM_017017294.3 → XP_016872783.1  UDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferase isoform X6

      UniProtKB/TrEMBL
      A0A804HI18, A0A804HL46
      Related
      ENSP00000506856.1, ENST00000682946.1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      119114257..119122234 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054367929.1 → XP_054223904.1  UDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferase isoform X2

      UniProtKB/Swiss-Prot
      O15216, Q86WV9, Q9BWE6, Q9H3H5

    2. XM_054367934.1 → XP_054223909.1  UDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferase isoform X7

    3. XM_054367930.1 → XP_054223905.1  UDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferase isoform X3

    4. XM_054367928.1 → XP_054223903.1  UDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferase isoform X1

    5. XM_054367932.1 → XP_054223907.1  UDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferase isoform X5

    6. XM_054367931.1 → XP_054223906.1  UDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferase isoform X4

      UniProtKB/TrEMBL
      A0A804HKZ3

    7. XM_054367933.1 → XP_054223908.1  UDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferase isoform X6

      UniProtKB/TrEMBL
      A0A804HI18

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_203316.1: Suppressed sequence

      Description
      NM_203316.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9H3H5.2 GenPept UniProtKB/Swiss-Prot:Q9H3H5

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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