Homo sapiens Gene: B3GNT4
Summary
InnateDB Gene IDBG-62254.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol B3GNT4
Gene Name UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000176383
Encoded Proteins
UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4
UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4
UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes a member of the beta-1,3-N-acetylglucosaminyltransferase protein family. The encoded enzyme is involved in the biosynthesis of poly-N-acetyllactosamine chains and prefers lacto-N-neotetraose as a substrate. It is a type II transmembrane protein. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 12:122203543-122208952
Strand Forward strand
Band q24.31
Transcripts
ENST00000324189 ENSP00000319636
ENST00000546192 ENSP00000438840
ENST00000545141
ENST00000537991
ENST00000538257
ENST00000535274 ENSP00000444534
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:0016757 transferase activity, transferring glycosyl groups
Biological Process
GO:0005975 carbohydrate metabolic process
GO:0006486 protein glycosylation
GO:0016266 O-glycan processing
GO:0018146 keratan sulfate biosynthetic process
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:0016020 membrane
GO:0016021 integral component of membrane
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Pathways
NETPATH
REACTOME
O-linked glycosylation of mucins 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
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
Glycosphingolipid biosynthesis pathway
INOH
PID NCI
Cross-References
SwissProt Q9C0J1
TrEMBL A0A024RBT1
UniProt Splice Variant
Entrez Gene 79369
UniGene Hs.363315
RefSeq NM_030765
HUGO HGNC:15683
OMIM 605864
CCDS CCDS9227
HPRD 12058
IMGT
EMBL AB049586 AF321825 AJ130848 AJ278962 AK095746 AL834452 AY358940 BC031399 CH471054
GenPept AAH31399 AAL37219 AAQ89299 BAB21532 BAC04622 CAC45045 CAC82375 CAD39112 EAW98308 EAW98309
RNA Seq Atlas 79369