DPAGT1

Chr 11q23.3

dolichyl-phosphate N-acetylglucosaminephosphotransferase 1

Aliases:: GPT, D11S366, DGPT, ALG7, CDG-Ij
MANE:: ENST00000354202.9

OMIM: 191350 ↗NCBI: 1798 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

DPAGT1 · Q9H3H5

v62025-08-01

Predicted Aligned Error matrix for DPAGT1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

94.7/ 100

Very high

408 residues

Confidence breakdown

Very high(≥ 90)89%
Confident(70–90)8%
Low(50–70)2%
Very low(< 50)1%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Arthrogryposis
BIALLELIC, autosomal or pseudoautosomal
Congenital disorders of glycosylation
BIALLELIC, autosomal or pseudoautosomal
Congenital myaesthenic syndrome
BIALLELIC, autosomal or pseudoautosomal
DDG2P
BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomal

+3 more panels — install the extension to see the full list inline on any page.

Disease associations (Open Targets)

DPAGT1-congenital disorder of glycosylation
0.81
Congenital myasthenic syndromes
0.80
neurodegenerative disease
0.52
congenital disorder of glycosylation
0.50
hereditary disease
0.45
congenital myasthenic syndromes with glycosylation defect
0.37
congenital disorder of glycosylation type I
0.37
tubular aggregate myopathy
0.34
Abnormality of metabolism/homeostasis
0.27
lysosomal storage disease
0.18

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

UDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferase

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 of dolichol-linked oligosaccharides begins on the cytosolic side of the endoplasmic reticulum membrane and finishes in its lumen. The sequential addition of sugars to dolichol pyrophosphate produces dolichol-linked oligosaccharides containing fourteen sugars, including two GlcNAcs, nine mannoses and three glucoses. Once assembled, the oligosaccharide is transferred from the lipid to nascent proteins by oligosaccharyltransferases. Catalyzes the initial step of dolichol-linked oligosaccharide biosynthesis, transferring GlcNAc-1-P from cytosolic UDP-GlcNAc onto the carrier lipid dolichyl phosphate (P-dolichol), yielding GlcNAc-P-P-dolichol embedded in the cytoplasmic leaflet of the endoplasmic reticulum membrane