DPAGT1

The protein encoded by this gene 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. [provided by RefSeq]

dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)

Catalyzes the initial step of dolichol-linked oligosaccharide biosynthesis in N-linked protein glycosylation pathway: transfers GlcNAc-1-P from UDP-GlcNAc onto the carrier lipid dolichyl phosphate (P-dolichol), yielding GlcNAc-P-P-dolichol.

Dolichol-linked oligosaccharide biosynthetic process Source: UniProtKB
Dolichol metabolic process Source: Ensembl
Dolichyl diphosphate biosynthetic process Source: GO_Central
Protein N-linked glycosylation Source: UniProtKB
UDP-N-acetylglucosamine metabolic process Source: Ensembl

Endoplasmic reticulum membrane

Congenital disorder of glycosylation 1J (CDG1J):
A form of congenital disorder of glycosylation, a multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. 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. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions.
Myasthenic syndrome, congenital, 13 (CMS13):
A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre-synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness. CMS13 is characterized by muscle weakness mostly affecting proximal limb muscles, minimal involvement of facial, ocular and bulbar muscles, and tubular aggregates present on muscle biopsy. Symptoms include difficulty walking and frequent falls. Younger patients show hypotonia and poor head control. Neurophysiological features indicate a disorder of neuromuscular transmission on electromyography.

Lumenal: 1-10
Helical: 11-38
Cytoplasmic: 39-58
Helical: 59-78
Lumenal: 79-91
Helical: 92-118
Cytoplasmic: 119-121
Helical: 122-143
Lumenal: 144-166
Helical: 167-186
Cytoplasmic: 187-192
Helical: 193-213
Lumenal: 214-218
Helical: 219-242
Cytoplasmic: 243-250
Helical: 251-269
Lumenal: 270-271
Helical: 272-293
Cytoplasmic: 294-375
Helical: 376-400
Lumenal: 401-408