Homo sapiens Gene: B3GALNT1
Summary
InnateDB Gene IDBG-63670.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol B3GALNT1
Gene Name beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group)
Synonyms B3GALT3; beta3Gal-T3; galT3; Gb4Cer; GLCT3; GLOB; P; P1;
Species Homo sapiens
Ensembl Gene ENSG00000169255
Encoded Proteins
beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group)
beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group)
beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group)
beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group)
beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group)
beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group)
beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group)
beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group)
beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group)
beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group)
beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group)
beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group)
beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group)
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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]
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 3:161083883-161105384
Strand Reverse strand
Band q26.1
Transcripts
ENST00000320474 ENSP00000323479
ENST00000392781 ENSP00000376532
ENST00000392779 ENSP00000376530
ENST00000417187 ENSP00000407027
ENST00000473285 ENSP00000418226
ENST00000488170 ENSP00000420163
ENST00000468268 ENSP00000419476
ENST00000492353 ENSP00000418567
ENST00000473142 ENSP00000420604
ENST00000498216 ENSP00000417643
ENST00000484127 ENSP00000420059
ENST00000460353 ENSP00000417053
ENST00000494173 ENSP00000419127
ENST00000496295
ENST00000476999
ENST00000478383
ENST00000494818
ENST00000497487
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
Experimentally validated
Total 1 [view]
Protein-Protein 1 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0008378 galactosyltransferase activity
GO:0008499 UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity
GO:0016757 transferase activity, transferring glycosyl groups
GO:0047273 galactosylgalactosylglucosylceramide beta-D-acetylgalactosaminyltransferase activity
Biological Process
GO:0006486 protein glycosylation
GO:0009312 oligosaccharide biosynthetic process
Cellular Component
GO:0000139 Golgi membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
KEGG
Glycosphingolipid biosynthesis pathway
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.418062 Hs.606694 Hs.723510
RefSeq NM_001038628 NM_003781 NM_033167 NM_033168 NM_033169 XM_005247859 XM_005247861 XM_005247862 XM_005247864 XM_006713802 XM_006713804 XM_006713806
HUGO
OMIM
CCDS CCDS3193
HPRD 09119
IMGT
EMBL
GenPept
RNA Seq Atlas