Search results for DPAGT1

Showing 11 results out of 12

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Protein (7 results from a total of 8)

Identifier: R-HSA-449262
Species: Homo sapiens
Compartment: endoplasmic reticulum membrane
Primary external reference: UniProt: DPAGT1: Q9H3H5
Identifier: R-HSA-4549333
Species: Homo sapiens
Compartment: endoplasmic reticulum membrane
Primary external reference: UniProt: DPAGT1: Q9H3H5
Identifier: R-HSA-4549365
Species: Homo sapiens
Compartment: endoplasmic reticulum membrane
Primary external reference: UniProt: Q9H3H5
Identifier: R-HSA-4549318
Species: Homo sapiens
Compartment: endoplasmic reticulum membrane
Primary external reference: UniProt: Q9H3H5
Identifier: R-HSA-4549376
Species: Homo sapiens
Compartment: endoplasmic reticulum membrane
Primary external reference: UniProt: Q9H3H5
Identifier: R-HSA-4549374
Species: Homo sapiens
Compartment: endoplasmic reticulum membrane
Primary external reference: UniProt: Q9H3H5
Identifier: R-HSA-4549352
Species: Homo sapiens
Compartment: endoplasmic reticulum membrane
Primary external reference: UniProt: Q9H3H5

Set (1 results from a total of 1)

Identifier: R-HSA-4549346
Species: Homo sapiens
Compartment: endoplasmic reticulum membrane

Pathway (1 results from a total of 1)

Identifier: R-HSA-4549356
Species: Homo sapiens
UDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferase (DPAGT1) catalyses the initial committed step in the biosynthesis of dolichyl pyrophosphate-oligosaccharides. Defects in DPAGT1 cause congenital disorder of glycosylation 1j (DPAGT1-CDG, previously known as CDG-1j; MIM:608093), a multisystem disorder characterised by under-glycosylated serum glycoproteins (Wu et al. 2003, Timal et al. 2012). Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. Defects in DPAGT1 can also cause myasthenic syndrome, congenital, with tubular aggregates, 2 (CMSTA2; MIM:614750), characterised by muscle weakness of mainly the proximal limb muscles, with tubular aggregates present on muscle biopsy. Sufferers find walking difficult and fall frequently. Younger sufferers show hypotonia and poor head control. A disorder of neuromuscular transmission is detected on electromyography (Belaya et al. 2012, Finlayson et al. 2013).

Reaction (2 results from a total of 2)

Identifier: R-HSA-4549334
Species: Homo sapiens
Compartment: endoplasmic reticulum membrane, cytosol, integral component of cytoplasmic side of endoplasmic reticulum membrane
In the first committed step of N-glycan precursor (LLO) synthesis, UDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferase (DPAGT1) normally catalyses the transfer of N-acetylglucosamine (GlcNAc), via an alpha-1,3 linkage, to a molecule of dolichyl phosphate (DOLP). Defects in DPAGT1 can cause congenital disorder of glycosylation, type 1j (DPAGT1-CDG, previously called CDG1j; MIM:608093), a multisystem disorder characterised by under-glycosylated serum glycoproteins. Clinical features include defective nervous system development, psychomotor retardation, coagulation diorders and immunodeficiency. Mutations causing DPAGT1-CDG include Y170C, I69N and a G-A transition in intron 1 (not shown here) which results in degradation of the mutant mRNA (Wu et al. 2003, Timal et al. 2012). Defects in DPAGT1 can also cause myasthenic syndrome, congenital, with tubular aggregates, 2 (CMSTA2; MIM:614750 a syndrome that arises from impaired neuromuscular transmission and characterised by muscle weakness, especially of the limb-girdle. Mutations causing CMSTA2 include V117I, M108I, L120M, T234Hfs*116 and V264G (Belaya et al. 2012).
Identifier: R-HSA-446191
Species: Homo sapiens
Compartment: endoplasmic reticulum membrane, cytosol
In the first step of N glycan precursor (LLO) synthesis, N acetylglucosamine is added, via an alpha 1,3 linkage, to a molecule of dolichyl phosphate, producing N acetyl D glucosaminyl diphosphodolichol (Eckert et al. 1998). This reaction is catalyzed by DPAGT1 (ALG7 in yeast), mutations in which are associated with CDG disorder type I J (Wu et al. 2003) and with congenital myasthenic syndrome with tubular aggregates type 2 (Belaya et al. 2012). The dolichyl phosphate acts as an anchor for the LLO, so that subsequent sugar addition reactions take place on a sugar anchored in the ER membrane.
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