Gene/Proteome Database (LMPD)

LMPD ID
LMP002663
Gene ID
8706
Species
Homo sapiens (Human)
Gene Name
beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group)
Gene Symbol
B3GALNT1
Synonyms
B3GALT3; GLCT3; GLOB; Gb4Cer; P; P1; beta3Gal-T3; galT3
Chromosome
3
Map Location
3q25
EC Number
2.4.1.79
Summary
This gene is a member of the beta-1,3-galactosyltransferase (beta3GalT) gene family. This family encodes type II membrane-bound glycoproteins with diverse enzymatic functions using different donor substrates (UDP-galactose and UDP-N-acetylglucosamine) and different acceptor sugars (N-acetylglucosamine, galactose, N-acetylgalactosamine). The beta3GalT genes are distantly related to the Drosophila Brainiac gene and have the protein coding sequence contained in a single exon. The beta3GalT proteins also contain conserved sequences not found in the beta4GalT or alpha3GalT proteins. The carbohydrate chains synthesized by these enzymes are designated as type 1, whereas beta4GalT enzymes synthesize type 2 carbohydrate chains. The ratio of type 1:type 2 chains changes during embryogenesis. By sequence similarity, the beta3GalT genes fall into at least two groups: beta3GalT4 and 4 other beta3GalT genes (beta3GalT1-3, beta3GalT5). The encoded protein of this gene does not use N-acetylglucosamine as an acceptor sugar at all. Multiple transcript variants that are alternatively spliced in the 5' UTR have been described; they all encode the same protein. [provided by RefSeq, Jul 2008]
Orthologs
View orthologs and multiple alignments for B3GALNT1

Proteins

UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 1
Refseq ID NP_149357
Protein GI 15451875
UniProt ID Q8TDY1
mRNA ID NM_033167
Length 331
RefSeq Status REVIEWED
MASALWTVLPSRMSLRSLKWSLLLLSLLSFFVMWYLSLPHYNVIERVNWMYFYEYEPIYRQDFHFTLREHSNCSHQNPFLVILVTSHPSDVKARQAIRVTWGEKKSWWGYEVLTFFLLGQEAEKEDKMLALSLEDEHLLYGDIIRQDFLDTYNNLTLKTIMAFRWVTEFCPNAKYVMKTDTDVFINTGNLVKYLLNLNHSEKFFTGYPLIDNYSYRGFYQKTHISYQEYPFKVFPPYCSGLGYIMSRDLVPRIYEMMGHVKPIKFEDVYVGICLNLLKVNIHIPEDTNLFFLYRIHLDVCQLRRVIAAHGFSSKEIITFWQVMLRNTTCHY
UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 1
Refseq ID NP_001033717
Protein GI 84452146
UniProt ID Q8TDY1
mRNA ID NM_001038628
Length 331
RefSeq Status REVIEWED
Protein sequence is identical to GI:15451875 (mRNA isoform)
UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 1
Refseq ID NP_003772
Protein GI 4502343
UniProt ID Q8TDY1
mRNA ID NM_003781
Length 331
RefSeq Status REVIEWED
Protein sequence is identical to GI:15451875 (mRNA isoform)
UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 1
Refseq ID NP_149359
Protein GI 15451879
UniProt ID Q8TDY1
mRNA ID NM_033169
Length 331
RefSeq Status REVIEWED
Protein sequence is identical to GI:15451875 (mRNA isoform)
UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 1
Refseq ID NP_149358
Protein GI 15451877
UniProt ID Q8TDY1
mRNA ID NM_033168
Length 331
RefSeq Status REVIEWED
Protein sequence is identical to GI:15451875 (mRNA isoform)

Gene Information

Entrez Gene ID
8706
Gene Name
beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group)
Gene Symbol
B3GALNT1
Species
Homo sapiens

Gene Ontology (GO Annotations)

GO ID Source Type Description
GO:0005794 IEA:UniProtKB-KW C Golgi apparatus
GO:0016021 IEA:UniProtKB-KW C integral component of membrane
GO:0008499 TAS:ProtInc F UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity
GO:0047273 IEA:UniProtKB-EC F galactosylgalactosylglucosylceramide beta-D-acetylgalactosaminyltransferase activity
GO:0009312 IEA:Ensembl P oligosaccharide biosynthetic process
GO:0006486 TAS:ProtInc P protein glycosylation

KEGG Pathway Links

KEGG Pathway ID Description
hsa00603 Glycosphingolipid biosynthesis - globo series
ko00603 Glycosphingolipid biosynthesis - globo series
hsa01100 Metabolic pathways

Domain Information

InterPro Annotations

Accession Description
IPR002659 Glycosyl transferase, family 31

UniProt Annotations

Entry Information

Gene Name
beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group)
Protein Entry
B3KTQ4_HUMAN
UniProt ID
Q8TDY1
Species
Human

Comments

Comment Type Description
Catalytic Activity UDP-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.
Cofactor Name=Mg(2+); Xref=ChEBI
Function Transfers N-acetylgalactosamine onto globotriaosylceramide.
Pathway Protein modification; protein glycosylation.
Polymorphism B3GALNT1 activity is responsible for the globoside blood group system (GLOB), which is defined by the P antigen [MIM
Polymorphism Genetic variation in B3GALNT1 is responsible for the blood group P1PK system [MIM
Similarity Belongs to the glycosyltransferase 31 family.
Subcellular Location Golgi apparatus membrane; Single-pass type II membrane protein.
Tissue Specificity Higher 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 Resource Name=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 Resource Name=GGDB; Note=GlycoGene database; URL="http://jcggdb.jp/rcmg/ggdb/Homolog?cat=symbol&symbol=B3GALNT1";
Web Resource Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/b3galt3/";
Web Resource Name=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";

Identical and Related Proteins

Unique RefSeq proteins for LMP002663 (as displayed in Record Overview)

Protein GI Database Accession Length Protein Name
15451875 RefSeq NP_149357 331 UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 1

Identical Sequences to LMP002663 proteins

Reference Database Accession Length Protein Name
GI:15451875 GenBank AIC50185.1 331 B3GALNT1, partial [synthetic construct]
GI:15451875 RefSeq XP_006713865.1 331 PREDICTED: UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 1 isoform X8 [Homo sapiens]
GI:15451875 RefSeq XP_006713866.1 331 PREDICTED: UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 1 isoform X9 [Homo sapiens]
GI:15451875 RefSeq XP_006713867.1 331 PREDICTED: UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 1 isoform X10 [Homo sapiens]
GI:15451875 RefSeq XP_006713868.1 331 PREDICTED: UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 1 isoform X11 [Homo sapiens]
GI:15451875 RefSeq XP_006713869.1 331 PREDICTED: UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 1 isoform X12 [Homo sapiens]

Related Sequences to LMP002663 proteins

Reference Database Accession Length Protein Name
GI:15451875 GenBank EAW78622.1 363 UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 3 (Globoside blood group), isoform CRA_b [Homo sapiens]
GI:15451875 GenBank JAA05340.1 331 beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group) [Pan troglodytes]
GI:15451875 GenBank JAA05341.1 331 beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group) [Pan troglodytes]
GI:15451875 GenBank JAA05342.1 331 beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group) [Pan troglodytes]
GI:15451875 GenBank JAA42787.1 331 beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group) [Pan troglodytes]
GI:15451875 GenBank JAA42788.1 331 beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group) [Pan troglodytes]