Literature summary for 2.7.8.15 extracted from

Yuste-Checa, P.; Vega, A.I.; Martin-Higueras, C.; Medrano, C.; Gamez, A.; Desviat, L.R.; Ugarte, M.; Perez-Cerda, C.; Perez, B.
DPAGT1-CDG functional analysis of disease-causing pathogenic mutations and role of endoplasmic reticulum stress (2017), PLoS ONE, 12, e0179456 .

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Cloned(Commentary)

Cloned (Comment)	Organism
gene GPAGT1, genotyping, quantitative RT-PCR enzyme expression analysis, transient recombinant expression of enzyme mutations in COS-7 cells	Homo sapiens

Protein Variants

Protein Variants	Comment	Organism
F110S	naturally occuring mutation in gene DPAGT1, c.329T>C, patient with hypotonia, muscle weakness, hypoacusia, psychomotor retardation, the mutation affects splicing and enzyme protein	Homo sapiens
L120M	naturally occuring mutation in gene DPAGT1, c.358C>A, patient with hypotonia phenotype, the mutation affects splicing and enzyme protein	Homo sapiens
L385R	naturally occuring mutation in gene DPAGT1, c.1154T>G, patients with foetal hypokinesia, facial dysmorphism, hypertrichosis, hypotonia, papilar atrophy, bilateral cochlear impairment, the mutation affects splicing and enzyme protein	Homo sapiens
additional information	analysis of DPAGT1 transcriptional profiles and GTP levels in patient-derived fibroblasts. The enzyme mutations affect the splicing process, the stability of GTP, or the ability of this protein to correctly localise in the endoplasmic reticulum membrane, role of endoplasmic reticulum stress, detailed overview	Homo sapiens
R301C	naturally occuring mutation in gene DPAGT1, c.901C>T, the mutation affects splicing and enzyme protein	Homo sapiens
R301H	naturally occuring mutation in gene DPAGT1, c.902G>A, the mutation affects splicing and enzyme protein	Homo sapiens
V264G	naturally occuring mutation in gene DPAGT1, c.791T>G, the mutation affects splicing and enzyme protein	Homo sapiens

Localization

Localization	Comment	Organism	GeneOntology No.	Textmining
endoplasmic reticulum membrane	integral membrane protein	Homo sapiens	5789	-

Natural Substrates/ Products (Substrates)

Natural Substrates	Organism	Comment (Nat. Sub.)	Natural Products	Comment (Nat. Pro.)	Rev.	Reac.
UDP-N-acetyl-alpha-D-glucosamine + dolichyl phosphate	Homo sapiens	-	UMP + N-acetyl-alpha-D-glucosaminyl-diphosphodolichol	-	?

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	Q9H3H5	-	-

Substrates and Products (Substrate)

Substrates	Comment Substrates	Organism	Products	Comment (Products)	Rev.	Reac.
UDP-N-acetyl-alpha-D-glucosamine + dolichyl phosphate	-	Homo sapiens	UMP + N-acetyl-alpha-D-glucosaminyl-diphosphodolichol	-	?

Synonyms

Synonyms	Comment	Organism
DPAGT1	-	Homo sapiens
GPT	-	Homo sapiens
UDP-N-acetylglucosamine-dolichylphosphate N-acetylglucosamine phosphotransferase	-	Homo sapiens

General Information

General Information	Comment	Organism
malfunction	pathogenic mutations in DPAGT1 are manifested as two possible phenotypes: congenital disorder of glycosylation DPAGT1-CDG (also known as CDG-Ij), and limb-girdle congenital myasthenic syndrome (CMS) with tubular aggregates, analysis of DPAGT1 transcriptional profiles and GTP levels in patient-derived fibroblast. enzyme mutations affect the splicing process, the stability of GTP, or the ability of this protein to correctly localise in the endoplasmic reticulum membrane	Homo sapiens
metabolism	UDP-N-acetylglucosamine-dolichylphosphate N-acetylglucosamine phosphotransferase (GPT) is involved in an initial step in the N-glycosylation pathway	Homo sapiens
physiological function	the endoplasmic reticulum (ER)-resident transmembrane protein catalyses the transfer of N-acetylglucosamine from cytosolic UDP-N-acetylglucosamine to dolichol-phosphate, which is also located in the ER membrane. The result is the formation of dolichol-diphosphate-N-acetylglucosamine, the carrier of the sugars that are finally attached to proteins in glycosylation	Homo sapiens

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Release 2023.1 (January 2023)