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MGP006598

UniProt Annotations

Entry Information
Gene NameALG10B, alpha-1,2-glucosyltransferase
Protein EntryAG10B_HUMAN
UniProt IDQ5I7T1
SpeciesHuman
Comments
Comment typeDescription
Catalytic ActivityDolichyl beta-D-glucosyl phosphate + 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 = D- Glc-alpha-(1->2)-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.
CautionPubMed:15280551 reports a Val-447 variant, however there is evidence that the right variant is Val-446. {ECO:0000305}.
FunctionPutative alpha-1,2-glucosyltransferase, which adds the third 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(2)Man(9)GlcNAc(2)-PP-Dol. When coupled to KCNH2 may reduce KCNH2 sensitivity to classic proarrhythmic drug blockade, possibly by mediating glycosylation of KCNH2. {ECO:0000269|PubMed:14525949}.
PathwayProtein modification; protein glycosylation.
PolymorphismGenetic variations in ALG10B may reduce susceptibility to acquired long QT syndrome.
SimilarityBelongs to the ALG10 glucosyltransferase family. {ECO:0000305}.
Subcellular LocationCell membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}.
SubunitInteracts with KCNH1 and KCNH2. {ECO:0000250}.
Tissue SpecificityHighly expressed in heart, placenta, liver, kidney and pancreas. Weakly expressed in lung, skeletal muscle and brain. {ECO:0000269|PubMed:14525949}.
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