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

Gene ID: 1798, updated on 27-Nov-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
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Genomic context

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See DPAGT1 in Genome Data Viewer
Location:
11q23.3
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (119093874..119101853, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (119114257..119122234, complement)
RS_2024_09 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. Structure, expression, and regulation of UDP-GlcNAc: dolichol phosphate GlcNAc-1-phosphate transferase (DPAGT1). Bretthauer RK. Curr Drug Targets, 2009 Jun. PMID 19519349
  2. Clinical features in a large Iranian family with a limb-girdle congenital myasthenic syndrome due to a mutation in DPAGT1. Basiri K, et al. Neuromuscul Disord, 2013 Jun. PMID 23591138, Free PMC Article
  3. Clinical features of congenital myasthenic syndrome due to mutations in DPAGT1. Finlayson S, et al. J Neurol Neurosurg Psychiatry, 2013 Oct. PMID 23447650, Free PMC Article
  4. Identification of DPAGT1 as a new gene in which mutations cause a congenital myasthenic syndrome. Belaya K, et al. Ann N Y Acad Sci, 2012 Dec. PMID 23278575, Free PMC Article
  5. A compound heterozygous mutation in DPAGT1 results in a congenital disorder of glycosylation with a relatively mild phenotype. Iqbal Z, et al. Eur J Hum Genet, 2013 Aug. PMID 23249953, Free PMC Article

See all (55) 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)

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 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_2024_08

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

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