Gene Gene information from NCBI Gene database.
Entrez ID 1798
Gene name Dolichyl-phosphate N-acetylglucosaminephosphotransferase 1
Gene symbol DPAGT1
Synonyms (NCBI Gene)
ALG7CDG-IjCDG1JCMS13CMSTA2D11S366DGPTDPAGTDPAGT2G1PTGPTUAGTUGAT
Chromosome 11
Chromosome location 11q23.3
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
SNPs SNP information provided by dbSNP.
5
SNP ID Visualize variation Clinical significance Consequence
rs138544311 A>C Likely-benign, conflicting-interpretations-of-pathogenicity, not-provided Coding sequence variant, intron variant, missense variant, 3 prime UTR variant, non coding transcript variant
rs387907245 A>C Pathogenic Missense variant, coding sequence variant, intron variant
rs397515321 ->G Pathogenic Coding sequence variant, frameshift variant, non coding transcript variant
rs772988029 G>A Likely-pathogenic Coding sequence variant, intron variant, missense variant
rs1450090350 A>G Likely-pathogenic Non coding transcript variant, coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
223
miRTarBase ID miRNA Experiments Reference
MIRT027764 hsa-miR-98-5p Microarray 19088304
MIRT943610 hsa-let-7a CLIP-seq
MIRT943611 hsa-let-7b CLIP-seq
MIRT943612 hsa-let-7c CLIP-seq
MIRT943613 hsa-let-7d CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
27
GO ID Ontology Definition Evidence Reference
GO:0003975 Function UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity IBA
GO:0003975 Function UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity IDA 8179616, 29459785
GO:0003975 Function UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity IEA
GO:0003975 Function UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity IMP 12872255
GO:0003975 Function UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity TAS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
191350 2995 ENSG00000172269
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9H3H5
Protein name UDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferase (EC 2.7.8.15) (GlcNAc-1-P transferase) (G1PT) (GPT) (N-acetylglucosamine-1-phosphate transferase)
Protein function UDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferase that operates in the biosynthetic pathway of dolichol-linked oligosaccharides, the glycan precursors employed in protein asparagine (N)-glycosylation. The assembly
PDB 5LEV , 5O5E , 6BW5 , 6BW6 , 6FM9 , 6FWZ , 6JQ3
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00953 Glycos_transf_4 98 270 Glycosyl transferase family 4 Family
Sequence
MWAFSELPMPLLINLIVSLLGFVATVTLIPAFRGHFIAARLCGQDLNKTSRQQIPESQGV
ISGAVFLIILFCFIPFPFLNCFVKEQCKAFPHHEFVALIGALLAICCMIFLGFADDVLNL
RWRHKLLLPTAASLPLLMVYFTNFGNTTIVVPKPFRPILGLHLDLGILYYVYMGLLAVFC
TNAINILAGINGLEAGQSLVISASIIVFNLVELEGDCRDDHVFSLYFMIPFFFTTLGLLY
HNWYPSRVFVGDTFCYFAGMTFAVVGILGH
FSKTMLLFFMPQVFNFLYSLPQLLHIIPCP
RHRIPRLNIKTGKLEMSYSKFKTKSLSFLGTFILKVAESLQLVTVHQSETEDGEFTECNN
MTLINLLLKVLGPIHERNLTLLLLLLQILGSAITFSIRYQLVRLFYDV
Sequence length 408
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  N-Glycan biosynthesis
Metabolic pathways
  Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
Defective DPAGT1 causes DPAGT1-CDG (CDG-1j) and CMSTA2
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
529
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Abnormality of metabolism/homeostasis Likely pathogenic; Pathogenic rs768416381 RCV001814361
Congenital disorder of glycosylation Likely pathogenic; Pathogenic rs1185483085, rs768656482, rs397515327, rs1946406410, rs1210999092, rs777142166, rs1946508324, rs1946512581 RCV001291276
RCV001291076
RCV001291448
RCV001291273
RCV001291451
RCV001291400
RCV001291452
RCV001291447
Congenital myasthenic syndrome 13 Likely pathogenic; Pathogenic rs768416381, rs2134898234, rs1946485389, rs776720609, rs2134901573, rs2134903748, rs2134919748, rs1403123573, rs762750243, rs2497529439, rs2497501143, rs1057521151, rs387907243, rs376039938, rs397515321
View all (6 more)
RCV002568239
RCV001730009
RCV001808077
RCV001877426
RCV002035235
RCV002000274
RCV001951610
RCV003223489
RCV003781192
RCV003806121
RCV003813404
RCV000686050
RCV000030601
RCV000030602
RCV000030603
RCV000030604
RCV000030605
RCV000796580
RCV000687708
RCV000685069
RCV000792938
DPAGT1-congenital disorder of glycosylation Likely pathogenic; Pathogenic rs768416381, rs776720609, rs2134901573, rs2134903748, rs2134919748, rs2134910617, rs2497528475, rs762750243, rs2497529439, rs2497501143, rs1057521151, rs387907243, rs376039938, rs397515321, rs397514586
View all (9 more)
RCV003987875
RCV001877426
RCV002035235
RCV002000274
RCV001951610
RCV002249031
RCV003237327
RCV003781192
RCV003806121
RCV003813404
RCV000686050
RCV001852609
RCV001224025
RCV003764646
RCV000032992
RCV000032993
RCV000796580
RCV000687708
RCV000685069
RCV000792938
RCV000055659
RCV000055661
RCV000988759
RCV000995756
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Adrenocortical carcinoma, hereditary Conflicting classifications of pathogenicity rs112355069 RCV005901424
Clear cell carcinoma of kidney Uncertain significance rs376322200 RCV005902017
DPAGT1-related disorder Likely benign; Conflicting classifications of pathogenicity; Benign rs1371529040, rs377263230, rs199873583, rs191573465, rs199994118 RCV003978499
RCV003967867
RCV003912721
RCV004758709
RCV003965388
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Alcohol Related Disorders Associate 23249953
Brain Diseases Associate 23249953
Breast Neoplasms Associate 37463446
Carcinoma Squamous Cell Stimulate 19549906
Congenital disorder of glycosylation type 1J Associate 23591138
Congenital Disorders of Glycosylation Associate 23249953, 26805780, 33407696
Epilepsy Associate 23249953
Facial Dysmorphism with Multiple Malformations Associate 23249953
Intellectual Disability Associate 23249953, 24759841
Lymphoma B Cell Associate 24069324