Homo sapiens Gene: B3GAT3 | |||||||||||||||||||||
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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)
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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] |
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Gene Information | |||||||||||||||||||||
Type | Protein coding | ||||||||||||||||||||
Genomic Location | Chromosome 11:62615296-62622175 | ||||||||||||||||||||
Strand | Reverse strand | ||||||||||||||||||||
Band | q12.3 | ||||||||||||||||||||
Transcripts |
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Interactions | |||||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 5 experimentally validated interaction(s) in this database.
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Gene Ontology | |||||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Orthologs | |||||||||||||||||||||
Species
Mus musculus
Bos taurus
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Gene ID
Gene Order
Not yet available
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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
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KEGG |
Glycosaminoglycan biosynthesis pathway
Glycosaminoglycan biosynthesis pathway
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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 | ||||||||||||||||||||