LMPD Database

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LMP002758

UniProt Annotations

Entry Information
Gene Namebeta-1,4-N-acetyl-galactosaminyl transferase 1
Protein EntryB4DSP5_HUMAN
UniProt IDQ00973
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q00973-1; Sequence=Displayed; Name=2; IsoId=Q00973-2; Sequence=VSP_055039; Name=3; IsoId=Q00973-3; Sequence=VSP_055040, VSP_055041;
Catalytic ActivityUDP-N-acetyl-alpha-D-galactosamine + O-(N- acetyl-alpha-neuraminyl)-(2->3)-O-beta-D-galactopyranosyl-(1->4)- beta-D-glucopyranosyl-(1<->1)-ceramide = UDP + O-2-(acetylamino)- 2-deoxy-beta-D-galactopyranosyl-(1->4)-O-(N-acetyl-alpha- neuraminyl-(2->3))-O-beta-D-galactopyranosyl-(1->4)-beta-D- glucopyranosyl-(1<->1)-ceramide.
DiseaseSpastic paraplegia 26, autosomal recessive (SPG26) [MIM
FunctionInvolved in the biosynthesis of gangliosides GM2, GD2 and GA2.
PathwayProtein modification; protein glycosylation.
SimilarityBelongs to the glycosyltransferase 2 family.
Subcellular LocationGolgi apparatus membrane; Single-pass type II membrane protein.
SubunitHomodimer; disulfide-linked.
Web ResourceName=Functional Glycomics Gateway - GTase; Note=Beta-1,4 N-acetylgalactosaminyltransferase 1; URL="http://www.functionalglycomics.org/glycomics/molecule/jsp/glycoEnzyme/viewGlycoEnzyme.jsp?gbpId=gt_hum_480";
Web ResourceName=GGDB; Note=GlycoGene database; URL="http://jcggdb.jp/rcmg/ggdb/Homolog?cat=symbol&symbol=B4GALNT1";