Homo sapiens Gene: B3GAT3
Summary
InnateDB Gene IDBG-51329.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol B3GAT3
Gene Name beta-1,3-glucuronyltransferase 3 (glucuronosyltransferase I)
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000149541
Encoded Proteins
beta-1,3-glucuronyltransferase 3 (glucuronosyltransferase I)
beta-1,3-glucuronyltransferase 3 (glucuronosyltransferase I)
beta-1,3-glucuronyltransferase 3 (glucuronosyltransferase I)
beta-1,3-glucuronyltransferase 3 (glucuronosyltransferase I)
beta-1,3-glucuronyltransferase 3 (glucuronosyltransferase I)
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary The protein encoded by this gene is a member of the glucuronyltransferase gene family, enzymes that exhibit strict acceptor specificity, recognizing nonreducing terminal sugars and their anomeric linkages. This gene product catalyzes the formation of the glycosaminoglycan-protein linkage by way of a glucuronyl transfer reaction in the final step of the biosynthesis of the linkage region of proteoglycans. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 11:62615296-62622175
Strand Reverse strand
Band q12.3
Transcripts
ENST00000265471 ENSP00000265471
ENST00000531383 ENSP00000431359
ENST00000532585 ENSP00000432604
ENST00000534026 ENSP00000432474
ENST00000533303
ENST00000534715 ENSP00000432854
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 5 experimentally validated interaction(s) in this database.
Experimentally validated
Total 5 [view]
Protein-Protein 5 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0015018 galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity
GO:0015020 glucuronosyltransferase activity
GO:0046872 metal ion binding
Biological Process
GO:0005975 carbohydrate metabolic process
GO:0006024 glycosaminoglycan biosynthetic process
GO:0006486 protein glycosylation
GO:0008152 metabolic process
GO:0015012 heparan sulfate proteoglycan biosynthetic process
GO:0030203 glycosaminoglycan metabolic process
GO:0030204 chondroitin sulfate metabolic process
GO:0044281 small molecule metabolic process
GO:0050650 chondroitin sulfate proteoglycan biosynthetic process
GO:0050651 dermatan sulfate proteoglycan biosynthetic process
Cellular Component
GO:0000139 Golgi membrane
GO:0005794 Golgi apparatus
GO:0005801 cis-Golgi network
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0070062 extracellular vesicular exosome
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Pathways
NETPATH
REACTOME
A tetrasaccharide linker sequence is required for GAG synthesis pathway
Mucopolysaccharidoses pathway
Myoclonic epilepsy of Lafora pathway
Defective B4GALT7 causes EDS, progeroid type pathway
Defective CHST6 causes MCDC1 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
MPS IX - Natowicz syndrome pathway
Defective EXT1 causes exostoses 1, TRPS2 and CHDS pathway
Defective CHST14 causes EDS, musculocontractural type pathway
Heparan sulfate/heparin (HS-GAG) metabolism 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
Chondroitin sulfate/dermatan sulfate metabolism 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
Glycosaminoglycan biosynthesis pathway
INOH
PID NCI
Cross-References
SwissProt
TrEMBL G3V150
UniProt Splice Variant
Entrez Gene 26229
UniGene Hs.502759
RefSeq NM_001288722 NM_001288723 NM_001288721 NM_012200
HUGO HGNC:923
OMIM 606374
CCDS CCDS8025
HPRD 07564
IMGT
EMBL AP001458 CH471076
GenPept EAW74042
RNA Seq Atlas 26229