ID A3LT2_HUMAN Reviewed; 340 AA.
AC U3KPV4;
DT 06-JUL-2016, integrated into UniProtKB/Swiss-Prot.
DT 13-NOV-2013, sequence version 1.
DT 30-NOV-2016, entry version 22.
DE RecName: Full=Alpha-1,3-galactosyltransferase 2 {ECO:0000312|HGNC:HGNC:30005};
DE EC=2.4.1.87 {ECO:0000305|PubMed:23378701};
DE AltName: Full=Isoglobotriaosylceramide synthase;
DE Short=iGb3 synthase {ECO:0000303|PubMed:18630988};
DE Short=iGb3S {ECO:0000303|PubMed:18630988};
GN Name=A3GALT2 {ECO:0000312|HGNC:HGNC:30005};
GN Synonyms=A3GALT2P {ECO:0000312|HGNC:HGNC:30005},
GN IGBS3S {ECO:0000303|PubMed:18630988};
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC Catarrhini; Hominidae; Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16710414; DOI=10.1038/nature04727;
RA Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D.,
RA Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A.,
RA Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F.,
RA McDonald L., Evans R., Phillips K., Atkinson A., Cooper R., Jones C.,
RA Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P.,
RA Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K.,
RA Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G.,
RA Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D.,
RA Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G.,
RA Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J.,
RA Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H.,
RA Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L.,
RA Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J.,
RA Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R.,
RA Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D.,
RA Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G.,
RA Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M.,
RA Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J.,
RA Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M.,
RA Loveland J., Lovell J., Lush M.J., Lyne R., Martin S.,
RA Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S.,
RA Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N.,
RA Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V.,
RA Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J.,
RA Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E.,
RA Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C.,
RA Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z.,
RA Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E.,
RA Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A.,
RA Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R.,
RA Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V.,
RA Beck S., Rogers J., Bentley D.R.;
RT "The DNA sequence and biological annotation of human chromosome 1.";
RL Nature 441:315-321(2006).
RN [2]
RP MISCELLANEOUS.
RX PubMed=18630988; DOI=10.1371/journal.pbio.0060172;
RA Christiansen D., Milland J., Mouhtouris E., Vaughan H., Pellicci D.G.,
RA McConville M.J., Godfrey D.I., Sandrin M.S.;
RT "Humans lack iGb3 due to the absence of functional iGb3-synthase:
RT implications for NKT cell development and transplantation.";
RL PLoS Biol. 6:E172-E172(2008).
RN [3]
RP TISSUE SPECIFICITY, AND FUNCTION.
RX PubMed=23378701; DOI=10.1080/07328303.2012.741637;
RA Tahiri F., Li Y., Hawke D., Ganiko L., Almeida I., Levery S., Zhou D.;
RT "Lack of iGb3 and isoglobo-Series glycosphingolipids in pig organs
RT used for xenotransplantation: implications for natural killer T-cell
RT biology.";
RL J. Carbohydr. Chem. 32:44-67(2013).
CC -!- FUNCTION: Synthesizes the galactose-alpha(1,3)-galactose group on
CC the glycosphingolipid isoglobotrihexosylceramide or isogloboside 3
CC (iGb3) by catalyzing the transfer of galactose from UDP-Galactose
CC to its acceptor molecule Gal-beta-1,4-Glc-ceramide. Can also
CC catalyze the addition of galactose to iGb3 itself to form
CC polygalactose structures. {ECO:0000305|PubMed:23378701}.
CC -!- CATALYTIC ACTIVITY: UDP-alpha-D-galactose + beta-D-galactosyl-
CC (1->4)-beta-N-acetyl-D-glucosaminyl-R = UDP + alpha-D-galactosyl-
CC (1->3)-beta-D-galactosyl-(1->4)-beta-N-acetylglucosaminyl-R.
CC {ECO:0000250|UniProtKB:Q3V1N9}.
CC -!- COFACTOR:
CC Name=Mn(2+); Xref=ChEBI:CHEBI:29035; Evidence={ECO:0000250};
CC -!- SUBCELLULAR LOCATION: Golgi apparatus, Golgi stack membrane
CC {ECO:0000250|UniProtKB:A0A4Z3}; Single-pass type II membrane
CC protein {ECO:0000250|UniProtKB:A0A4Z3}. Note=Also found in
CC numerous large vesicles throughout the cytoplasm of the soma.
CC {ECO:0000250|UniProtKB:A0A4Z3}.
CC -!- TISSUE SPECIFICITY: Expressed in thymus and monocyte derived
CC dendritic cells. {ECO:0000269|PubMed:23378701}.
CC -!- DOMAIN: The conserved DXD motif is involved in cofactor binding.
CC The manganese ion interacts with the beta-phosphate group of UDP
CC and may also have a role in catalysis (By similarity).
CC {ECO:0000250}.
CC -!- SIMILARITY: Belongs to the glycosyltransferase 6 family.
CC {ECO:0000305}.
CC -!- CAUTION: According to a report, the spliced A3GALT2 mRNA is not
CC detected in human tissues (PubMed:18630988). The functional
CC activity of human A3GALT2 tested by expressing a chimeric protein
CC containing the catalytic domain of human A3GALT2 is unable to
CC synthesize isogloboside 3 (iGb3). Futhermore mutagenesis
CC experiments in rat, show that the mutant 'Asn-253' of human
CC A3GALT2 completely eliminates alpha-1,3-galactosyltransferase
CC activity (PubMed:18630988). {ECO:0000303|PubMed:18630988}.
DR EMBL; AL513327; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR CCDS; CCDS60080.1; -.
DR RefSeq; NP_001073907.1; NM_001080438.1.
DR ProteinModelPortal; U3KPV4; -.
DR SMR; U3KPV4; -.
DR Ensembl; ENST00000442999; ENSP00000475261; ENSG00000184389.
DR GeneID; 127550; -.
DR KEGG; hsa:127550; -.
DR UCSC; uc031plq.1; human.
DR CTD; 127550; -.
DR HGNC; HGNC:30005; A3GALT2.
DR OpenTargets; ENSG00000184389; -.
DR GeneTree; ENSGT00400000022032; -.
DR KO; K20736; -.
DR OMA; RPWARPE; -.
DR OrthoDB; EOG091G0A87; -.
DR GenomeRNAi; 127550; -.
DR PRO; PR:U3KPV4; -.
DR Proteomes; UP000005640; Chromosome 1.
DR GO; GO:0005794; C:Golgi apparatus; IBA:GO_Central.
DR GO; GO:0032580; C:Golgi cisterna membrane; IEA:UniProtKB-SubCell.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0031982; C:vesicle; IBA:GO_Central.
DR GO; GO:0046872; F:metal ion binding; IEA:UniProtKB-KW.
DR GO; GO:0047276; F:N-acetyllactosaminide 3-alpha-galactosyltransferase activity; IEA:UniProtKB-EC.
DR GO; GO:0016757; F:transferase activity, transferring glycosyl groups; IBA:GO_Central.
DR GO; GO:0005975; P:carbohydrate metabolic process; IEA:InterPro.
DR GO; GO:0009247; P:glycolipid biosynthetic process; IBA:GO_Central.
DR GO; GO:0006688; P:glycosphingolipid biosynthetic process; IEA:Ensembl.
DR GO; GO:0030259; P:lipid glycosylation; IBA:GO_Central.
DR Gene3D; 3.90.550.10; -; 1.
DR InterPro; IPR005076; Glyco_trans_6.
DR InterPro; IPR029044; Nucleotide-diphossugar_trans.
DR PANTHER; PTHR10462; PTHR10462; 1.
DR Pfam; PF03414; Glyco_transf_6; 1.
DR SUPFAM; SSF53448; SSF53448; 1.
PE 2: Evidence at transcript level;
KW Complete proteome; Glycoprotein; Glycosyltransferase; Golgi apparatus;
KW Manganese; Membrane; Metal-binding; Reference proteome; Signal-anchor;
KW Transferase; Transmembrane; Transmembrane helix.
FT CHAIN 1 340 Alpha-1,3-galactosyltransferase 2.
FT /FTId=PRO_0000436524.
FT TOPO_DOM 1 12 Cytoplasmic. {ECO:0000305}.
FT TRANSMEM 13 32 Helical; Signal-anchor for type II
FT membrane protein. {ECO:0000255}.
FT TOPO_DOM 33 340 Lumenal. {ECO:0000305}.
FT METAL 199 199 Manganese. {ECO:0000250}.
FT METAL 201 201 Manganese. {ECO:0000250}.
FT CARBOHYD 58 58 N-linked (GlcNAc...). {ECO:0000255}.
FT CARBOHYD 100 100 N-linked (GlcNAc...). {ECO:0000255}.
CC --------------------------------------------------------------------------
CC The following FT lines are automated annotations from the MyHits database.
CC --------------------------------------------------------------------------
FT MYHIT 66 340 ipfam:Glyco_transf_6 [T]
SQ SEQUENCE 340 AA; 38754 MW; 129B673AC0DCE037 CRC64;
MALKEGLRAW KRIFWRQILL TLGLLGLFLY GLPKFRHLEA LIPMGVCPSA TMSQLRDNFT
GALRPWARPE VLTCTPWGAP IIWDGSFDPD VAKQEARQQN LTIGLTIFAV GRYLEKYLER
FLETAEQHFM AGQSVMYYVF TELPGAVPRV ALGPGRRLPV ERVARERRWQ DVSMARMRTL
HAALGGLPGR EAHFMFCMDV DQHFSGTFGP EALAESVAQL HSWHYHWPSW LLPFERDAHS
AAAMAWGQGD FYNHAAVFGG SVAALRGLTA HCAGGLDWDR ARGLEARWHD ESHLNKFFWL
HKPAKVLSPE FCWSPDIGPR AEIRRPRLLW APKGYRLLRN
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