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Details on Person UniProt:U3KPV4 A3GALT2

Class:IdReferenceGeneProduct:8934987
_chainChangeLogchain:1-340 added on Fri August 12 2016
_displayNameUniProt:U3KPV4 A3GALT2
_timestamp2025-02-21 20:05:56
chainchain:1-340
checksum129B673AC0DCE037
commentFUNCTION Synthesizes the galactose-alpha(1,3)-galactose group on the glycosphingolipid isoglobotrihexosylceramide or isogloboside 3 (iGb3) by catalyzing the transfer of galactose from UDP-Galactose to its acceptor molecule Gal-beta-1,4-Glc-ceramide. Can also catalyze the addition of galactose to iGb3 itself to form polygalactose structures.CATALYTIC ACTIVITY a beta-D-galactosyl-(1->4)-N-acetyl-beta-D-glucosaminyl derivative + UDP-alpha-D-galactose = an alpha-D-galactosyl-(1->3)-beta-D-galactosyl-(1->4)-N-acetyl-beta-D-glucosaminyl derivative + UDP + H(+)CATALYTIC ACTIVITY a beta-D-Gal-(1->4)-beta-D-Glc-(1<->1)-Cer(d18:1(4E)) + UDP-alpha-D-galactose = an isogloboside iGb3Cer (d18:1(4E)) + UDP + H(+)CATALYTIC ACTIVITY a globoside Gb3Cer + UDP-alpha-D-galactose = a globoside GalGb3Cer + UDP + H(+)COFACTOR Also found in numerous large vesicles throughout the cytoplasm of the soma.TISSUE SPECIFICITY Expressed in thymus and monocyte derived dendritic cells.DOMAIN The conserved DXD motif is involved in cofactor binding. The manganese ion interacts with the beta-phosphate group of UDP and may also have a role in catalysis (By similarity).SIMILARITY Belongs to the glycosyltransferase 6 family.CAUTION According to a report, the spliced A3GALT2 mRNA is not detected in human tissues (PubMed:18630988). The functional activity of human A3GALT2 tested by expressing a chimeric protein containing the catalytic domain of human A3GALT2 is unable to synthesize isogloboside 3 (iGb3). Futhermore mutagenesis experiments in rat, show that the mutant 'Asn-253' of human A3GALT2 completely eliminates alpha-1,3-galactosyltransferase activity (PubMed:18630988).
created[InstanceEdit:8934940] Weiser, JD
descriptionrecommendedName: fullName evidence="9"Alpha-1,3-galactosyltransferase 2 ecNumber evidence="3"2.4.1.87 alternativeName: Isoglobotriaosylceramide synthase shortName evidence="6"iGb3 synthase shortName evidence="6"iGb3S
geneNameA3GALT2
A3GALT2P
IGBS3S
identifierU3KPV4
isSequenceChangedFALSE
keywordGlycoprotein
Glycosyltransferase
Golgi apparatus
Lipid metabolism
Manganese
Membrane
Metal-binding
Reference proteome
Signal-anchor
Transferase
Transmembrane
Transmembrane helix
modified[InstanceEdit:9836292] Weiser, Joel, 2023-05-25
[InstanceEdit:9852000] Weiser, Joel, 2023-11-03
[InstanceEdit:9862192] Weiser, Joel, 2024-02-26
[InstanceEdit:9939033] Weiser, Joel, 2025-02-21
nameA3GALT2
referenceDatabase[ReferenceDatabase:2] UniProt
referenceGene[ReferenceDNASequence:8987664] ENSEMBL:ENSG00000184389 A3GALT2 [Homo sapiens]
secondaryIdentifierA3LT2_HUMAN
sequenceLength340
species[Species:48887] Homo sapiens
(referenceEntity)[EntityWithAccessionedSequence:8942179] A3GALT2 [Golgi membrane] [Homo sapiens]
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