Dolichyl Phosphate-N-Acetylglucosaminephosphotransferase 1 (DPAGT1)

ALG7; CDG-Ij; DGPT; DPAGT; DPAGT2; G1PT; GPT; UAGT; UGAT; GlcNAc-1-P Transferase; UDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferase

SPN	O514
HGNC	2995
MGI	1196396
PubMed	22742743
RGD	735124
UniProt	Q9H3H5
Wiki	DPAGT1

DPAGT1 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. The cDNA encodes a deduced 400-amino acid protein with a calculated molecular mass of 44.7 kD. DPAGT1 contains an N-terminal signal peptide, 2 potential dolichol-binding sequences, and 4 sites for N-glycosylation. It shares 93% amino acid homology with hamster Dpagt, including 100% identity in the dolichol-binding region, and 42% homology with S. cerevisiae GlcNAc-1-P transferase.

Reference

"Cloning and functional expression of the human GlcNAc-1-P transferase, the enzyme for the committed step of the dolichol cycle, by heterologous complementation in Saccharomyces cerevisiae."
Glycobiology 8:77-85(1998) [PubMed] [Europe PMC] [Abstract]

"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

"Deficiency of UDP-GlcNAc:dolichol phosphate N-acetylglucosamine-1 phosphate transferase (DPAGT1) causes a novel congenital disorder of glycosylation type Ij."
Hum. Mutat. 22:144-150(2003) [PubMed] [Europe PMC] [Abstract]

"The consensus coding sequences of human breast and colorectal cancers."
Science 314:268-274(2006) [PubMed] [Europe PMC] [Abstract]

"Mutations in DPAGT1 cause a limb-girdle congenital myasthenic syndrome with tubular aggregates."
Am. J. Hum. Genet. 91:193-201(2012) [PubMed] [Europe PMC] [Abstract]