B3GAT1

Gene Name		beta-1,3-glucuronyltransferase 1
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Gene Ontology Annotations	Cellular Component	Golgi Membrane Integral Component Of Membrane
	Molecular Function	UDP-galactose:beta-N-acetylglucosamine Beta-1,3-galactosyltransferase Activity Galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase Activity Metal Ion Binding
	Biological Process	Carbohydrate Metabolic Process Protein Glycosylation Pathogenesis Glycosaminoglycan Metabolic Process Chondroitin Sulfate Metabolic Process Small Molecule Metabolic Process
Pathways		MPS IIIB - Sanfilippo syndrome B Diseases of glycosylation Heparan sulfate/heparin (HS-GAG) metabolism Defective B4GALT7 causes EDS, progeroid type MPS I - Hurler syndrome MPS IX - Natowicz syndrome Chondroitin sulfate/dermatan sulfate metabolism Defective SLC26A2 causes chondrodysplasias Glycosaminoglycan metabolism Defective CHST14 causes EDS, musculocontractural type Defective B4GALT1 causes B4GALT1-CDG (CDG-2d) Defective PAPSS2 causes SEMD-PA MPS IIIA - Sanfilippo syndrome A Myoclonic epilepsy of Lafora Defective CHST6 causes MCDC1 Glycogen storage diseases MPS IIID - Sanfilippo syndrome D A tetrasaccharide linker sequence is required for GAG synthesis MPS IIIC - Sanfilippo syndrome C Diseases associated with glycosaminoglycan metabolism Mucopolysaccharidoses Defective EXT2 causes exostoses 2 MPS II - Hunter syndrome Defective B3GAT3 causes JDSSDHD Defective CHST3 causes SEDCJD Defective EXT1 causes exostoses 1, TRPS2 and CHDS MPS IV - Morquio syndrome A MPS IV - Morquio syndrome B Defective CHSY1 causes TPBS MPS VII - Sly syndrome Metabolism of carbohydrates MPS VI - Maroteaux-Lamy syndrome
Drugs		D-tartaric acid Uridine-5\'-Diphosphate
Diseases
GWAS
Protein-protein Interactions		2 interactors: HLA-DMA SH3GL1
Entrez ID		27087
HPRD ID		06969
Ensembl ID		ENSG00000109956
Uniprot IDs		F5H0S0 Q9P2W7
PDB IDs		1V82 1V83 1V84
Enriched GO Terms of Interacting Partners?		Peptide Antigen Assembly With MHC Class II Protein Complex MHC Class II Protein Complex Assembly Positive Thymic T Cell Selection Thymic T Cell Selection Chaperone Mediated Protein Folding Requiring Cofactor Positive T Cell Selection T Cell Selection 'de Novo' Posttranslational Protein Folding 'de Novo' Protein Folding Chaperone-mediated Protein Folding T Cell Differentiation In Thymus
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