Homo sapiens Gene: B4GALT6
Summary
InnateDB Gene IDBG-2120.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol B4GALT6
Gene Name UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 6
Synonyms B4Gal-T6; beta4Gal-T6
Species Homo sapiens
Ensembl Gene ENSG00000118276
Encoded Proteins
UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 6
UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 6
UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 6
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. The enzyme encoded by this gene is a lactosylceramide synthase important for glycolipid biosynthesis. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 18:31622247-31685836
Strand Reverse strand
Band q12.1
Transcripts
ENST00000306851 ENSP00000306459
ENST00000237019 ENSP00000237019
ENST00000383131 ENSP00000372613
ENST00000578114
ENST00000579372 ENSP00000463961
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
Gene Ontology

Molecular Function
Accession GO Term
GO:0008378 galactosyltransferase activity
GO:0016757 transferase activity, transferring glycosyl groups
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:0016021 integral component of membrane
GO:0032580 Golgi cisterna membrane
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
O-linked glycosylation of mucins 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
O-linked glycosylation 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
Sphingolipid metabolism pathway
INOH
PID NCI
Cross-References
SwissProt
TrEMBL J3QQY9
UniProt Splice Variant
Entrez Gene 9331
UniGene
RefSeq NM_004775
HUGO HGNC:929
OMIM 604017
CCDS CCDS11900
HPRD 06808
IMGT
EMBL AC017100
GenPept
RNA Seq Atlas 9331