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B3GALT6

Summary: The enzyme encoded by this intronless gene is a beta-1,3-galactosyltransferase found in the medial Golgi apparatus, where it catalyzes the transfer of galactose from UDP-galactose to substrates containing a terminal beta-linked galactose moiety. The encoded enzyme has a particular affinity for galactose-beta-1,4-xylose found in the linker region of glycosamines. This enzyme is required for glycosaminoglycan synthesis. [provided by RefSeq, Jun 2013].

Name	OMIM ID	Ensembl ID	HGNC ID	PHARMGKB ID	Map Location
beta-1,3-galactosyltransferase 6	MIM:615291	Ensembl:ENSG00000176022	HGNC:HGNC:17978	PA25214	1p36.33

GO terms in B3GALT6

Term Type	Evidence Type	GO Term ID	GO Des.
MF	IBA	GO:0008378	galactosyltransferase activity
MF	IEA	GO:0008499	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity
MF	IBA	GO:0016758	transferase activity, transferring hexosyl groups
MF	IBA	GO:0035250	UDP-galactosyltransferase activity
MF	IDA	GO:0035250	UDP-galactosyltransferase activity
MF	TAS	GO:0047220	galactosylxylosylprotein 3-beta-galactosyltransferase activity
BP	IBA	GO:0006024	glycosaminoglycan biosynthetic process
BP	IMP	GO:0006024	glycosaminoglycan biosynthetic process
BP	IBA	GO:0006486	protein glycosylation
BP	IEA	GO:0006486	protein glycosylation
BP	IEA	GO:0015012	heparan sulfate proteoglycan biosynthetic process
BP	TAS	GO:0030203	glycosaminoglycan metabolic process
BP	IEA	GO:0030206	chondroitin sulfate biosynthetic process
CC	TAS	GO:0000139	Golgi membrane
CC	IBA	GO:0005783	endoplasmic reticulum
CC	IBA	GO:0005794	Golgi apparatus
CC	IDA	GO:0005797	Golgi medial cisterna
CC	HDA	GO:0016020	membrane
CC	IBA	GO:0016020	membrane
CC	IEA	GO:0016021	integral component of membrane
CC	IEA	GO:0032580	Golgi cisterna membrane

Gene expression in normal tissue: B3GALT6

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Gene-model tissue-cancer distribution: Bubble Plot

Gene-drug pathway distribution

Pathways in B3GALT6

Database	Pathway ID	Pathway Des.
humancyc	PWY-6557	glycoaminoglycan-protein linkage region biosynthesis
humancyc	PWY-6564	heparan sulfate biosynthesis
humancyc	PWY-6569	chondroitin sulfate biosynthesis
humancyc	PWY-6571	dermatan sulfate biosynthesis
kegg	hsa00532	Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate - Homo sapiens (human)
kegg	hsa00534	Glycosaminoglycan biosynthesis - heparan sulfate / heparin - Homo sapiens (human)
reactome	R-HSA-1430728	Metabolism
reactome	R-HSA-1630316	Glycosaminoglycan metabolism
reactome	R-HSA-1638091	Heparan sulfate/heparin (HS-GAG) metabolism
reactome	R-HSA-1643685	Disease
reactome	R-HSA-1793185	Chondroitin sulfate/dermatan sulfate metabolism
reactome	R-HSA-1971475	A tetrasaccharide linker sequence is required for GAG synthesis
reactome	R-HSA-3560782	Diseases associated with glycosaminoglycan metabolism
reactome	R-HSA-3781865	Diseases of glycosylation
reactome	R-HSA-4420332	Defective B3GALT6 causes EDSP2 and SEMDJL1
reactome	R-HSA-71387	Metabolism of carbohydrates

Gene-Drug: Aster Plot

Drug ID	Drug Name	Model Num.
iGMDRD679	Bistramide A	2
iGMDRD394	BX-795	2
iGMDRD466	Chaetocin	2
iGMDRD280	CYTOCHALASIN B	6
iGMDRD781	Sirolimus	5
iGMDRD427	ABT737	1
iGMDRD424	Tamatinib	1
iGMDRD577	BIX01294	2
iGMDRD780	PP-30	2
iGMDRD366	PI-103	2
iGMDRD562	Navitoclax	7
iGMDRD286	Nsc 632839	1
iGMDRD188	Piperlongumine	2
iGMDRD882	CIL41	2
iGMDRD886	Compound 1541A	2
iGMDRD60	Quinoclamine	1
iGMDRD255	SB225002	2
iGMDRD474	Avrainvillamide	2
iGMDRD885	Compound 110	2
iGMDRD434	BMS-536924	2

Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in B3GALT6

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