Homo sapiens Gene: B3GNT1
Summary
InnateDB Gene IDBG-58923.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol B3GNT1
Gene Name UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1
Synonyms B3GN-T1; B3GNT6; BETA3GNTI; iGAT; iGNT; MDDGA13;
Species Homo sapiens
Ensembl Gene ENSG00000174684
Encoded Proteins
UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes a member of the beta-1,3-N-acetylglucosaminyltransferase family. This enzyme is a type II transmembrane protein. It is essential for the synthesis of poly-N-acetyllactosamine, a determinant for the blood group i antigen. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 11:66345372-66347692
Strand Reverse strand
Band q13.2
Transcripts
ENST00000311181 ENSP00000309096
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 6 experimentally validated interaction(s) in this database.
Experimentally validated
Total 6 [view]
Protein-Protein 5 [view]
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0008532 N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity
Biological Process
GO:0005975 carbohydrate metabolic process
GO:0006486 protein glycosylation
GO:0007411 axon guidance
GO:0018146 keratan sulfate biosynthetic process
GO:0030203 glycosaminoglycan metabolic process
GO:0030311 poly-N-acetyllactosamine biosynthetic process
GO:0042339 keratan sulfate metabolic process
GO:0044281 small molecule metabolic process
Cellular Component
GO:0000139 Golgi membrane
GO:0030173 integral component of Golgi membrane
GO:0070062 extracellular vesicular exosome
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
Mucopolysaccharidoses 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
Keratan sulfate biosynthesis pathway
MPS IIID - Sanfilippo syndrome D pathway
Defective SLC26A2 causes chondrodysplasias pathway
MPS IX - Natowicz syndrome pathway
Defective EXT1 causes exostoses 1, TRPS2 and CHDS 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
Glycosaminoglycan biosynthesis pathway
Glycosphingolipid biosynthesis pathway
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt O43505
TrEMBL A0A024R5F9 B4DGI0
UniProt Splice Variant
Entrez Gene 11041
UniGene Hs.730314 Hs.8526
RefSeq NM_006876
HUGO HGNC:15685
OMIM 605517
CCDS CCDS8136
HPRD
IMGT
EMBL AF029893 AK294604 BC021965 CH471076 DQ066422
GenPept AAC39538 AAH21965 AAY46155 BAG57791 EAW74517 EAW74518
RNA Seq Atlas 11041