LMPD Database

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LMP002663

UniProt Annotations

Entry Information
Gene Namebeta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group)
Protein EntryB3KTQ4_HUMAN
UniProt IDQ8TDY1
SpeciesHuman
Comments
Comment typeDescription
Catalytic ActivityUDP-N-acetyl-alpha-D-galactosamine + alpha-D- galactosyl-(1->4)-beta-D-galactosyl-(1->4)-beta-D-glucosyl- (1<->1)-ceramide = UDP + N-acetyl-beta-D-galactosaminyl-(1->3)- alpha-D-galactosyl-(1->4)-beta-D-galactosyl-(1->4)-beta-D- glucosyl-(1<->1)-ceramide.
CofactorName=Mg(2+); Xref=ChEBI
FunctionTransfers N-acetylgalactosamine onto globotriaosylceramide.
PathwayProtein modification; protein glycosylation.
PolymorphismB3GALNT1 activity is responsible for the globoside blood group system (GLOB), which is defined by the P antigen [MIM
PolymorphismGenetic variation in B3GALNT1 is responsible for the blood group P1PK system [MIM
SimilarityBelongs to the glycosyltransferase 31 family.
Subcellular LocationGolgi apparatus membrane; Single-pass type II membrane protein.
Tissue SpecificityHigher expression in heart and brain, and to a lesser extent in lung, placenta, kidney and testis. Lower expression in liver, spleen and stomach. No expression in skeletal muscle.
Web ResourceName=dbRBC/BGMUT; Note=Blood group antigen gene mutation database; URL="http://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.cgi?cmd=bgmut/systems_info&system=p";
Web ResourceName=Functional Glycomics Gateway - GTase; Note=Beta-1,3-galactosyltransferase 3; URL="http://www.functionalglycomics.org/glycomics/molecule/jsp/glycoEnzyme/viewGlycoEnzyme.jsp?gbpId=gt_hum_451";
Web ResourceName=GGDB; Note=GlycoGene database; URL="http://jcggdb.jp/rcmg/ggdb/Homolog?cat=symbol&symbol=B3GALNT1";
Web ResourceName=SeattleSNPs; URL="http://pga.gs.washington.edu/data/b3galt3/";