LMPD Database

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LMP012351

UniProt Annotations

Entry Information
Gene NameALG3, alpha-1,3- mannosyltransferase
Protein Entry
UniProt IDQ92685
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q92685-1; Sequence=Displayed; Name=2; IsoId=Q92685-2; Sequence=VSP_042738; Note=No experimental confirmation available.;
Catalytic ActivityDolichyl beta-D-mannosyl phosphate + D-Man- alpha-(1->2)-D-Man-alpha-(1->2)-D-Man-alpha-(1->3)-(D-Man-alpha- (1->6))-D-Man-beta-(1->4)-D-GlcNAc-beta-(1->4)-D-GlcNAc- diphosphodolichol = D-Man-alpha-(1->2)-D-Man-alpha-(1->2)-D-Man- alpha-(1->3)-(D-Man-alpha-(1->3)-D-Man-alpha-(1->6))-D-Man-beta- (1->4)-D-GlcNAc-beta-(1->4)-D-GlcNAc-diphosphodolichol + dolichyl phosphate.
DiseaseCongenital disorder of glycosylation 1D (CDG1D) [MIM:601110]: 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:10581255, ECO:0000269|PubMed:15840742}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionAdds the first Dol-P-Man derived mannose in an alpha-1,3 linkage to Man5GlcNAc2-PP-Dol
PathwayProtein modification; protein glycosylation.
SimilarityBelongs to the glycosyltransferase 58 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=ALG3";