Version 5.4
Homo sapiens Gene: B3GAT1
Summary
InnateDB Gene IDBG-76619.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol B3GAT1
Gene Name beta-1,3-glucuronyltransferase 1 (glucuronosyltransferase P)
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000109956
Encoded Proteins
IDBP-76621
beta-1,3-glucuronyltransferase 1 (glucuronosyltransferase P)
IDBP-245376
beta-1,3-glucuronyltransferase 1 (glucuronosyltransferase P)
IDBP-593718
beta-1,3-glucuronyltransferase 1 (glucuronosyltransferase P)
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary The protein encoded by this gene is a member of the glucuronyltransferase gene family. These enzymes exhibit strict acceptor specificity, recognizing nonreducing terminal sugars and their anomeric linkages. This gene product functions as the key enzyme in a glucuronyl transfer reaction during the biosynthesis of the carbohydrate epitope HNK-1 (human natural killer-1, also known as CD57 and LEU7). Alternate transcriptional splice variants have been characterized. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 11:134378504-134411918
Strand Reverse strand
Band q25
Transcripts
ENST00000312527 ENSP00000307875
ENST00000392580 ENSP00000376359
ENST00000531778
ENST00000524765 ENSP00000433847
ENST00000531510
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 4 experimentally validated interaction(s) in this database.
Experimentally validated
Total 4 [view]
Protein-Protein 3 [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:0008499 UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity
GO:0015018 galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity
GO:0046872 metal ion binding
Biological Process
GO:0005975 carbohydrate metabolic process
GO:0006486 protein glycosylation
GO:0008152 metabolic process
GO:0030203 glycosaminoglycan metabolic process
GO:0030204 chondroitin sulfate 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
ENSMUSG00000045994
View Gene Order
ENSBTAG00000027477
Not yet available
Pathways
NETPATH
REACTOME
REACT_121408
A tetrasaccharide linker sequence is required for GAG synthesis pathway
REACT_147853
Mucopolysaccharidoses pathway
REACT_200783
Myoclonic epilepsy of Lafora pathway
REACT_267711
Defective B4GALT7 causes EDS, progeroid type pathway
REACT_267713
Defective CHST6 causes MCDC1 pathway
REACT_147719
MPS VI - Maroteaux-Lamy syndrome pathway
REACT_267645
Defective PAPSS2 causes SEMD-PA pathway
REACT_474
Metabolism of carbohydrates pathway
REACT_147749
MPS IIID - Sanfilippo syndrome D pathway
REACT_267662
Defective SLC26A2 causes chondrodysplasias pathway
REACT_147739
MPS IX - Natowicz syndrome pathway
REACT_267674
Defective EXT1 causes exostoses 1, TRPS2 and CHDS pathway
REACT_267642
Defective CHST14 causes EDS, musculocontractural type pathway
REACT_121314
Heparan sulfate/heparin (HS-GAG) metabolism pathway
REACT_147798
MPS IV - Morquio syndrome B pathway
REACT_267659
Defective B3GAT3 causes JDSSDHD pathway
REACT_267708
Defective CHST3 causes SEDCJD pathway
REACT_147825
MPS IV - Morquio syndrome A pathway
REACT_267654
Defective EXT2 causes exostoses 2 pathway
REACT_267707
Diseases associated with glycosaminoglycan metabolism pathway
REACT_147734
MPS II - Hunter syndrome pathway
REACT_267635
Defective B4GALT1 causes B4GALT1-CDG (CDG-2d) pathway
REACT_121315
Glycosaminoglycan metabolism pathway
REACT_267705
Diseases of glycosylation pathway
REACT_121206
Chondroitin sulfate/dermatan sulfate metabolism pathway
REACT_147759
MPS VII - Sly syndrome pathway
REACT_267682
Defective CHSY1 causes TPBS pathway
REACT_111217
Metabolism pathway
REACT_147857
MPS I - Hurler syndrome pathway
REACT_147753
MPS IIIA - Sanfilippo syndrome A pathway
REACT_147860
MPS IIIC - Sanfilippo syndrome C pathway
REACT_116125
Disease pathway
REACT_200833
Glycogen storage diseases pathway
REACT_147788
MPS IIIB - Sanfilippo syndrome B pathway
KEGG
hsa00514
Other types of O-glycan biosynthesis pathway
INOH
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.381050
RefSeq NM_018644 NM_054025 XM_005271506 XM_005271507 XM_005271508
HUGO
OMIM
CCDS CCDS8500
HPRD 06969
IMGT
EMBL
GenPept
RNA Seq Atlas

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca