DPAGT1 (dolichyl-phosphate N-acetylglucosaminephosphotransferase 1)

2009-10-01  

Identity

HGNC
LOCATION
11q23.3
LOCUSID
ALIAS
ALG7,CDG-Ij,CDG1J,CMS13,CMSTA2,D11S366,DGPT,DPAGT,DPAGT2,G1PT,GPT,UAGT,UGAT

Other Information

Locus ID:

NCBI: 1798
MIM: 191350
HGNC: 2995
Ensembl: ENSG00000172269

Variants:

dbSNP: 1798
ClinVar: 1798
TCGA: ENSG00000172269
COSMIC: DPAGT1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000172269ENST00000354202Q9H3H5
ENSG00000172269ENST00000354202A0A024R3H8
ENSG00000172269ENST00000392834F8W681
ENSG00000172269ENST00000409993Q9H3H5
ENSG00000172269ENST00000409993A0A024R3H8
ENSG00000172269ENST00000414373F8WE55
ENSG00000172269ENST00000442480H7C2L6
ENSG00000172269ENST00000636404A0A1B0GV58
ENSG00000172269ENST00000638850A0A1W2PQH0
ENSG00000172269ENST00000639704A0A1W2PPC6
ENSG00000172269ENST00000640102A0A1W2PQD1
ENSG00000172269ENST00000640747A0A1W2PRR6

Expression (GTEx)

0
10
20
30
40
50
60

Pathways

PathwaySourceExternal ID
N-Glycan biosynthesisKEGGko00510
N-Glycan biosynthesisKEGGhsa00510
Metabolic pathwaysKEGGhsa01100
N-glycan precursor biosynthesisKEGGhsa_M00055
N-glycan precursor biosynthesisKEGGM00055
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
Asparagine N-linked glycosylationREACTOMER-HSA-446203
Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent proteinREACTOMER-HSA-446193

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
227427432012Mutations in DPAGT1 cause a limb-girdle congenital myasthenic syndrome with tubular aggregates.39
195499062009Overexpression of DPAGT1 leads to aberrant N-glycosylation of E-cadherin and cellular discohesion in oral cancer.25
237036142013N-glycosylation induces the CTHRC1 protein and drives oral cancer cell migration.19
206932882010N-glycosylation gene DPAGT1 is a target of the Wnt/beta-catenin signaling pathway.16
223049302012Congenital disorder of glycosylation type Ij (CDG-Ij, DPAGT1-CDG): extending the clinical and molecular spectrum of a rare disease.16
195193492009Structure, expression, and regulation of UDP-GlcNAc: dolichol phosphate GlcNAc-1-phosphate transferase (DPAGT1).13
223413072012Aberrant amplification of the crosstalk between canonical Wnt signaling and N-glycosylation gene DPAGT1 promotes oral cancer.13
231789392013Coordinate regulation of N-glycosylation gene DPAGT1, canonical Wnt signaling and E-cadherin adhesion.8
232785752012Identification of DPAGT1 as a new gene in which mutations cause a congenital myasthenic syndrome.7
232499532013A compound heterozygous mutation in DPAGT1 results in a congenital disorder of glycosylation with a relatively mild phenotype.6

Citation

Dessen P

DPAGT1 (dolichyl-phosphate N-acetylglucosaminephosphotransferase 1)

Atlas Genet Cytogenet Oncol Haematol. 2009-10-01

Online version: http://atlasgeneticsoncology.org/gene/51157/dpagt1