UDP-GlcNAc-ドリコールリン酸N-アセチルグルコサミンリン酸転移酵素

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.