LMPD Database

LMP012356

UniProt Annotations

Entry Information
Gene NameALG6, alpha-1,3-glucosyltransferase
Protein Entry
UniProt IDQ9Y672
SpeciesHuman
Comments
Comment typeDescription
Catalytic ActivityDolichyl beta-D-glucosyl phosphate + D-Man- alpha-(1->2)-D-Man-alpha-(1->2)-D-Man-alpha-(1->3)-[D-Man-alpha- (1->2)-D-Man-alpha-(1->3)-(D-Man-alpha-(1->2)-D-Man-alpha-(1->6))- D-Man-alpha-(1->6)]-D-Man-beta-(1->4)-D-GlcNAc-beta-(1->4)-D- GlcNAc-diphosphodolichol = D-Glc-alpha-(1->3)-D-Man-alpha-(1->2)- D-Man-alpha-(1->2)-D-Man-alpha-(1->3)-[D-Man-alpha-(1->2)-D-Man- alpha-(1->3)-(D-Man-alpha-(1->2)-D-Man-alpha-(1->6))-D-Man-alpha- (1->6)]-D-Man-beta-(1->4)-D-GlcNAc-beta-(1->4)-D-GlcNAc- diphosphodolichol + dolichyl phosphate.
DiseaseCongenital disorder of glycosylation 1C (CDG1C) [MIM:603147]: 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. {ECO:0000269|PubMed:10359825, ECO:0000269|PubMed:10914684, ECO:0000269|PubMed:10924277, ECO:0000269|PubMed:11106564, ECO:0000269|PubMed:11134235, ECO:0000269|PubMed:12357336, ECO:0000269|PubMed:14517965}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionAdds the first glucose residue to the lipid-linked oligosaccharide precursor for N-linked glycosylation. Transfers glucose from dolichyl phosphate glucose (Dol-P-Glc) onto the lipid-linked oligosaccharide Man(9)GlcNAc(2)-PP-Dol.
PathwayProtein modification; protein glycosylation.
SimilarityBelongs to the ALG6/ALG8 glucosyltransferase family
Subcellular LocationEndoplasmic reticulum membrane {ECO:0000305}; Multi-pass membrane protein
Web ResourceName=GGDB; Note=GlycoGene database; URL="http://jcggdb.jp/rcmg/ggdb/Homolog?cat=symbol&symbol=ALG6";