UDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferase
EC=2.7.8.15
Alternative name(s):
GlcNAc-1-P transferase
Short name=G1PT
Short name=GPT
N-acetylglucosamine-1-phosphate transferase
Gene names
Name: DPAGT1
Synonyms: DPAGT2
Function
Catalyzes the initial step in the synthesis of dolichol-P-P-oligosaccharides.
Catalytic activity
UDP-N-acetyl-D-glucosamine + dolichyl phosphate = UMP + N-acetyl-D-glucosaminyl-diphosphodolichol.
Pathway
Protein modification; protein glycosylation.
Subcellular location
Endoplasmic reticulum membrane; Multi-pass membrane protein.
Involvement in disease
Defects in DPAGT1 are the cause of congenital disorder of glycosylation type 1J (CDG1J) [MIM:608093]. CDGs are a family of severe inherited diseases caused by a defect in protein N-glycosylation. They are characterized by under-glycosylated serum proteins. These multisystem disorders present with a wide variety of clinical features, such as disorders of 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. Ref.5
Sequence similarities
Belongs to the glycosyltransferase 4 family.
