Homo sapiens Gene: B4GALT3
Summary
InnateDB Gene IDBG-104210.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol B4GALT3
Gene Name UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 3
Synonyms beta4Gal-T3
Species Homo sapiens
Ensembl Gene ENSG00000158850
Encoded Proteins
UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 3
UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 3
UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 3
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene is one of seven beta-1,4-galactosyltransferase (beta4GalT) genes. They encode type II membrane-bound glycoproteins that appear to have exclusive specificity for the donor substrate UDP-galactose; all transfer galactose in a beta1,4 linkage to similar acceptor sugars: GlcNAc, Glc, and Xyl. Each beta4GalT has a distinct function in the biosynthesis of different glycoconjugates and saccharide structures. As type II membrane proteins, they have an N-terminal hydrophobic signal sequence that directs the protein to the Golgi apparatus and which then remains uncleaved to function as a transmembrane anchor. By sequence similarity, the beta4GalTs form four groups: beta4GalT1 and beta4GalT2, beta4GalT3 and beta4GalT4, beta4GalT5 and beta4GalT6, and beta4GalT7. This gene encodes an enzyme that may be mainly involved in the synthesis of the first N-acetyllactosamine unit of poly-N-acetyllactosamine chains. Multiple alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Dec 2010]
Gene Information
Type Protein coding
Genomic Location Chromosome 1:161171310-161177968
Strand Reverse strand
Band q23.3
Transcripts
ENST00000319769 ENSP00000320965
ENST00000367998 ENSP00000356977
ENST00000470882
ENST00000486938
ENST00000466504
ENST00000465740
ENST00000493164
ENST00000496313
ENST00000487004
ENST00000482288
ENST00000460415
ENST00000467863
ENST00000622395 ENSP00000480428
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 3 experimentally validated interaction(s) in this database.
Experimentally validated
Total 3 [view]
Protein-Protein 3 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0003831 beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity
GO:0003945 N-acetyllactosamine synthase activity
GO:0008378 galactosyltransferase activity
GO:0046872 metal ion binding
Biological Process
GO:0005975 carbohydrate metabolic process
GO:0018146 keratan sulfate biosynthetic process
GO:0018279 protein N-linked glycosylation via asparagine
GO:0030203 glycosaminoglycan metabolic process
GO:0042339 keratan sulfate metabolic process
GO:0043687 post-translational protein modification
GO:0044267 cellular protein metabolic process
GO:0044281 small molecule metabolic process
Cellular Component
GO:0000139 Golgi membrane
GO:0005737 cytoplasm
GO:0005794 Golgi apparatus
GO:0016021 integral component of membrane
GO:0032580 Golgi cisterna membrane
GO:0070062 extracellular vesicular exosome
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Pathways
NETPATH
REACTOME
N-Glycan antennae elongation pathway
Transport to the Golgi and subsequent modification pathway
Asparagine N-linked glycosylation pathway
Keratan sulfate biosynthesis pathway
Mucopolysaccharidoses pathway
Post-translational protein modification pathway
Myoclonic epilepsy of Lafora pathway
Defective B4GALT7 causes EDS, progeroid type pathway
Defective CHST6 causes MCDC1 pathway
Keratan sulfate/keratin metabolism pathway
MPS VI - Maroteaux-Lamy syndrome pathway
Defective PAPSS2 causes SEMD-PA pathway
Metabolism of carbohydrates pathway
MPS IIID - Sanfilippo syndrome D pathway
N-glycan antennae elongation in the medial/trans-Golgi pathway
Defective SLC26A2 causes chondrodysplasias pathway
MPS IX - Natowicz syndrome pathway
Defective EXT1 causes exostoses 1, TRPS2 and CHDS pathway
Metabolism of proteins pathway
Defective CHST14 causes EDS, musculocontractural type pathway
MPS IV - Morquio syndrome B pathway
Defective B3GAT3 causes JDSSDHD pathway
Defective CHST3 causes SEDCJD pathway
MPS IV - Morquio syndrome A pathway
Defective EXT2 causes exostoses 2 pathway
Diseases associated with glycosaminoglycan metabolism pathway
MPS II - Hunter syndrome pathway
Defective B4GALT1 causes B4GALT1-CDG (CDG-2d) pathway
Glycosaminoglycan metabolism pathway
Diseases of glycosylation pathway
MPS VII - Sly syndrome pathway
Defective CHSY1 causes TPBS pathway
Metabolism pathway
MPS I - Hurler syndrome pathway
MPS IIIA - Sanfilippo syndrome A pathway
MPS IIIC - Sanfilippo syndrome C pathway
Disease pathway
Glycogen storage diseases pathway
MPS IIIB - Sanfilippo syndrome B pathway
KEGG
N-Glycan biosynthesis pathway
Glycosphingolipid biosynthesis pathway
Glycosaminoglycan biosynthesis pathway
Other types of O-glycan biosynthesis pathway
INOH
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.321231 Hs.666594
RefSeq NM_001199873 NM_001199874 NM_003779 XM_005245566
HUGO
OMIM
CCDS CCDS1222
HPRD 04929
IMGT
EMBL
GenPept
RNA Seq Atlas