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Protein

Alpha-1,3-galactosyltransferase 2

Gene

A3GALT2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at transcript leveli

Functioni

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.1 Publication

Catalytic activityi

UDP-alpha-D-galactose + beta-D-galactosyl-(1->4)-beta-N-acetyl-D-glucosaminyl-R = UDP + alpha-D-galactosyl-(1->3)-beta-D-galactosyl-(1->4)-beta-N-acetylglucosaminyl-R.By similarity

Cofactori

Mn2+By similarity

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Metal bindingi199ManganeseBy similarity1
Metal bindingi201ManganeseBy similarity1

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionGlycosyltransferase, Transferase
LigandManganese, Metal-binding

Names & Taxonomyi

Protein namesi
Recommended name:
Alpha-1,3-galactosyltransferase 2Imported (EC:2.4.1.871 Publication)
Alternative name(s):
Isoglobotriaosylceramide synthase
Short name:
iGb3 synthase1 Publication
Short name:
iGb3S1 Publication
Gene namesi
Name:A3GALT2Imported
Synonyms:A3GALT2PImported, IGBS3S1 Publication
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

EuPathDBiHostDB:ENSG00000184389.9.
HGNCiHGNC:30005. A3GALT2.

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 12CytoplasmicCuratedAdd BLAST12
Transmembranei13 – 32Helical; Signal-anchor for type II membrane proteinSequence analysisAdd BLAST20
Topological domaini33 – 340LumenalCuratedAdd BLAST308

Keywords - Cellular componenti

Golgi apparatus, Membrane

Pathology & Biotechi

Organism-specific databases

OpenTargetsiENSG00000184389.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00004365241 – 340Alpha-1,3-galactosyltransferase 2Add BLAST340

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi58N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi100N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Glycoprotein

Expressioni

Tissue specificityi

Expressed in thymus and monocyte derived dendritic cells.1 Publication

Gene expression databases

BgeeiENSG00000184389.

Structurei

3D structure databases

ProteinModelPortaliU3KPV4.
SMRiU3KPV4.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domaini

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).By similarity

Sequence similaritiesi

Belongs to the glycosyltransferase 6 family.Curated

Keywords - Domaini

Signal-anchor, Transmembrane, Transmembrane helix

Phylogenomic databases

GeneTreeiENSGT00400000022032.
KOiK20736.
OMAiGAPIIWD.
OrthoDBiEOG091G0A87.

Family and domain databases

Gene3Di3.90.550.10. 1 hit.
InterProiView protein in InterPro
IPR005076. Glyco_trans_6.
IPR029044. Nucleotide-diphossugar_trans.
PANTHERiPTHR10462. PTHR10462. 1 hit.
PfamiView protein in Pfam
PF03414. Glyco_transf_6. 1 hit.
SUPFAMiSSF53448. SSF53448. 1 hit.

Sequencei

Sequence statusi: Complete.

U3KPV4-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MALKEGLRAW KRIFWRQILL TLGLLGLFLY GLPKFRHLEA LIPMGVCPSA
60 70 80 90 100
TMSQLRDNFT GALRPWARPE VLTCTPWGAP IIWDGSFDPD VAKQEARQQN
110 120 130 140 150
LTIGLTIFAV GRYLEKYLER FLETAEQHFM AGQSVMYYVF TELPGAVPRV
160 170 180 190 200
ALGPGRRLPV ERVARERRWQ DVSMARMRTL HAALGGLPGR EAHFMFCMDV
210 220 230 240 250
DQHFSGTFGP EALAESVAQL HSWHYHWPSW LLPFERDAHS AAAMAWGQGD
260 270 280 290 300
FYNHAAVFGG SVAALRGLTA HCAGGLDWDR ARGLEARWHD ESHLNKFFWL
310 320 330 340
HKPAKVLSPE FCWSPDIGPR AEIRRPRLLW APKGYRLLRN
Length:340
Mass (Da):38,754
Last modified:November 13, 2013 - v1
Checksum:i129B673AC0DCE037
GO

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL513327 Genomic DNA. No translation available.
CCDSiCCDS60080.1.
RefSeqiNP_001073907.1. NM_001080438.1.

Genome annotation databases

EnsembliENST00000442999; ENSP00000475261; ENSG00000184389.
GeneIDi127550.
KEGGihsa:127550.
UCSCiuc031plq.1. human.

Similar proteinsi

Entry informationi

Entry nameiA3LT2_HUMAN
AccessioniPrimary (citable) accession number: U3KPV4
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 6, 2016
Last sequence update: November 13, 2013
Last modified: September 27, 2017
This is version 28 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

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).1 Publication

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. SIMILARITY comments
    Index of protein domains and families