DPAGT1

DPAGT1
Identifiers
Aliases	DPAGT1, ALG7, CDG-Ij, CDG1J, CMSTA2, D11S366, DGPT, DPAGT, DPAGT2, G1PT, GPT, UAGT, UGAT, CMS13, dolichyl-phosphate N-acetylglucosaminephosphotransferase 1
External IDs	OMIM: 191350; MGI: 1196396; HomoloGene: 1058; GeneCards: DPAGT1; OMA:DPAGT1 - orthologs
Gene location (Human)
Chr.	Chromosome 11 (human)
End	119,108,331 bp
Gene location (Mouse)
Chr.	Chromosome 9 (mouse)
End	44,245,197 bp
RNA expression pattern
	Top expressed in
	mucosa of transverse colon; ; body of pancreas; ; right adrenal gland; ; right adrenal cortex; ; stromal cell of endometrium; ; left adrenal gland; ; left adrenal cortex; ; right lobe of liver; ; right uterine tube; ; rectum;
	Top expressed in
	yolk sac; ; seminal vesicula; ; tail of embryo; ; genital tubercle; ; muscle of thigh; ; lacrimal gland; ; decidua; ; parotid gland; ; ankle joint; ; facial motor nucleus;
	More reference expression data
	; ;
	More reference expression data
Gene ontology
Molecular function	transferase activity; UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity; phospho-N-acetylmuramoyl-pentapeptide-transferase activity; glycosyltransferase activity; UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity; metal ion binding;
Cellular component	integral component of endoplasmic reticulum membrane; endoplasmic reticulum membrane; membrane; intracellular membrane-bounded organelle; endoplasmic reticulum; integral component of membrane;
Biological process	protein glycosylation; dolichol-linked oligosaccharide biosynthetic process; dolichol metabolic process; protein complex oligomerization; UDP-N-acetylglucosamine metabolic process; protein N-linked glycosylation; dolichyl diphosphate biosynthetic process;
	Sources:Amigo / QuickGO
Orthologs
	1798
	13478
	ENSG00000172269
	ENSMUSG00000032123
	Q9H3H5
	P42867
	NM_001382; NM_203316
	NM_007875; NM_001364464
	NP_001373
	NP_031901; NP_001351393
	Wikidata
View/Edit Human	View/Edit Mouse

UDP-N-acetylglucosamine—dolichyl-phosphate N-acetylglucosaminephosphotransferase is an enzyme that in humans is encoded by the DPAGT1 gene.

Mutations in DPAGT1 cause myasthenia.

The protein encoded by this gene is an enzyme that catalyzes the first step in the dolichol-linked oligosaccharide pathway (also see Genetic 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. Alternatively spliced transcript variants encoding different isoforms have been identified.