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MGP005848

UniProt Annotations

Entry Information
Gene NameALG8, alpha-1,3-glucosyltransferase
Protein EntryALG8_HUMAN
UniProt IDQ9BVK2
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9BVK2-1; Sequence=Displayed; Name=2; IsoId=Q9BVK2-2; Sequence=VSP_046291; Note=No experimental confirmation available.;
Catalytic ActivityDolichyl beta-D-glucosyl phosphate + 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 = D-Glc-alpha- (1->3)-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 1H (CDG1H) [MIM:608104]: 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:15235028}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionAdds the second 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 Glc(1)Man(9)GlcNAc(2)-PP-Dol (By similarity). {ECO:0000250}.
PathwayProtein modification; protein glycosylation.
Sequence CautionSequence=CAA12176.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};
SimilarityBelongs to the ALG6/ALG8 glucosyltransferase family. {ECO:0000305}.
Subcellular LocationEndoplasmic reticulum membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}.
Web ResourceName=GGDB; Note=GlycoGene database; URL="http://jcggdb.jp/rcmg/ggdb/Homolog?cat=symbol&symbol=ALG8";
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