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beta-1,3-galactosyltransferase 6

Summary

Gene Symbol

B3GALT6

Aliases

beta-1,3-galactosyltransferase-6
beta3GalT6

Organism

Homo sapiens (human)

External Links

NCBI Gene

126792

GGDB ID

gg074

HGNC

17978

mRNA

NM_080605

map

1p36.33

Protein

NP_542172

OMIM

615291

KEGG Gene ID

hsa:126792

PubChem

126792

Alliance of Genome Resources

HGNC:17978

Annotation

Keyword

Disease variant
Dwarfism
Ehlers-Danlos syndrome
Glycoprotein
Glycosyltransferase
Golgi apparatus
Manganese
Reference proteome
Signal-anchor
Transmembrane helix

Proteins

Displaying 1 entry
UniProt	Protein Name
Q96L58	GAG GalTII Galactosyltransferase II Galactosylxylosylprotein 3-beta-galactosyltransferase UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6

Annotation information from UniProt.

Gene Ontology (GO)

Displaying entries **1 - 5** of 10 in total

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GO Term	Evidence Code	PMID
glycosaminoglycan biosynthetic process	IMP	11551958
glycosaminoglycan biosynthetic process	IBA
protein O-linked glycosylation	IBA
heparan sulfate proteoglycan biosynthetic process	IMP	23664118
heparan sulfate proteoglycan biosynthetic process	IEA

GO Hierarchy

biological process

metabolic process [inference]

nitrogen compound metabolic process [inference]

organonitrogen compound metabolic process [inference]

aminoglycan metabolic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process

chondroitin sulfate biosynthetic process

glycosaminoglycan metabolic process

glycosaminoglycan biosynthetic process

chondroitin sulfate biosynthetic process

mucopolysaccharide metabolic process [inference]

chondroitin sulfate metabolic process [inference]

chondroitin sulfate biosynthetic process

protein metabolic process [inference]

glycoprotein metabolic process [inference]

proteoglycan metabolic process [inference]

proteoglycan biosynthetic process

chondroitin sulfate proteoglycan metabolic process [inference]

chondroitin sulfate proteoglycan biosynthetic process

dermatan sulfate proteoglycan metabolic process [inference]

dermatan sulfate proteoglycan biosynthetic process

glycoprotein biosynthetic process [inference]

proteoglycan biosynthetic process

protein modification process [inference]

protein glycosylation [inference]

protein O-linked glycosylation

organonitrogen compound biosynthetic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process

chondroitin sulfate biosynthetic process

glycoprotein biosynthetic process [inference]

proteoglycan biosynthetic process

biosynthetic process [inference]

cellular biosynthetic process [inference]

macromolecule biosynthetic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process

chondroitin sulfate biosynthetic process

glycoprotein biosynthetic process [inference]

proteoglycan biosynthetic process

sulfur compound biosynthetic process [inference]

organic substance biosynthetic process [inference]

macromolecule biosynthetic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process

chondroitin sulfate biosynthetic process

glycoprotein biosynthetic process [inference]

proteoglycan biosynthetic process

carbohydrate derivative biosynthetic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process

chondroitin sulfate biosynthetic process

glycoprotein biosynthetic process [inference]

proteoglycan biosynthetic process

organonitrogen compound biosynthetic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process

chondroitin sulfate biosynthetic process

glycoprotein biosynthetic process [inference]

proteoglycan biosynthetic process

cellular metabolic process [inference]

sulfur compound metabolic process [inference]

chondroitin sulfate metabolic process [inference]

chondroitin sulfate biosynthetic process

sulfur compound biosynthetic process [inference]

cellular biosynthetic process [inference]

macromolecule biosynthetic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process

chondroitin sulfate biosynthetic process

glycoprotein biosynthetic process [inference]

proteoglycan biosynthetic process

sulfur compound biosynthetic process [inference]

primary metabolic process [inference]

protein metabolic process [inference]

glycoprotein metabolic process [inference]

proteoglycan metabolic process [inference]

proteoglycan biosynthetic process

chondroitin sulfate proteoglycan metabolic process [inference]

chondroitin sulfate proteoglycan biosynthetic process

dermatan sulfate proteoglycan metabolic process [inference]

dermatan sulfate proteoglycan biosynthetic process

glycoprotein biosynthetic process [inference]

proteoglycan biosynthetic process

protein modification process [inference]

protein glycosylation [inference]

protein O-linked glycosylation

glycosylation [inference]

macromolecule glycosylation [inference]

protein glycosylation [inference]

protein O-linked glycosylation

organic substance metabolic process [inference]

macromolecule metabolic process [inference]

aminoglycan metabolic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process

chondroitin sulfate biosynthetic process

glycosaminoglycan metabolic process

glycosaminoglycan biosynthetic process

chondroitin sulfate biosynthetic process

mucopolysaccharide metabolic process [inference]

chondroitin sulfate metabolic process [inference]

chondroitin sulfate biosynthetic process

macromolecule biosynthetic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process

chondroitin sulfate biosynthetic process

glycoprotein biosynthetic process [inference]

proteoglycan biosynthetic process

protein metabolic process [inference]

glycoprotein metabolic process [inference]

proteoglycan metabolic process [inference]

proteoglycan biosynthetic process

chondroitin sulfate proteoglycan metabolic process [inference]

chondroitin sulfate proteoglycan biosynthetic process

dermatan sulfate proteoglycan metabolic process [inference]

dermatan sulfate proteoglycan biosynthetic process

glycoprotein biosynthetic process [inference]

proteoglycan biosynthetic process

protein modification process [inference]

protein glycosylation [inference]

protein O-linked glycosylation

macromolecule modification [inference]

protein modification process [inference]

protein glycosylation [inference]

protein O-linked glycosylation

macromolecule glycosylation [inference]

protein glycosylation [inference]

protein O-linked glycosylation

carbohydrate derivative metabolic process [inference]

aminoglycan metabolic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process

chondroitin sulfate biosynthetic process

glycosaminoglycan metabolic process

glycosaminoglycan biosynthetic process

chondroitin sulfate biosynthetic process

mucopolysaccharide metabolic process [inference]

chondroitin sulfate metabolic process [inference]

chondroitin sulfate biosynthetic process

glycoprotein metabolic process [inference]

proteoglycan metabolic process [inference]

proteoglycan biosynthetic process

chondroitin sulfate proteoglycan metabolic process [inference]

chondroitin sulfate proteoglycan biosynthetic process

dermatan sulfate proteoglycan metabolic process [inference]

dermatan sulfate proteoglycan biosynthetic process

glycoprotein biosynthetic process [inference]

proteoglycan biosynthetic process

carbohydrate derivative biosynthetic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process

chondroitin sulfate biosynthetic process

glycoprotein biosynthetic process [inference]

proteoglycan biosynthetic process

organonitrogen compound metabolic process [inference]

aminoglycan metabolic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process

chondroitin sulfate biosynthetic process

glycosaminoglycan metabolic process

glycosaminoglycan biosynthetic process

chondroitin sulfate biosynthetic process

mucopolysaccharide metabolic process [inference]

chondroitin sulfate metabolic process [inference]

chondroitin sulfate biosynthetic process

protein metabolic process [inference]

glycoprotein metabolic process [inference]

proteoglycan metabolic process [inference]

proteoglycan biosynthetic process

chondroitin sulfate proteoglycan metabolic process [inference]

chondroitin sulfate proteoglycan biosynthetic process

dermatan sulfate proteoglycan metabolic process [inference]

dermatan sulfate proteoglycan biosynthetic process

glycoprotein biosynthetic process [inference]

proteoglycan biosynthetic process

protein modification process [inference]

protein glycosylation [inference]

protein O-linked glycosylation

organonitrogen compound biosynthetic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process

chondroitin sulfate biosynthetic process

glycoprotein biosynthetic process [inference]

proteoglycan biosynthetic process

organic substance biosynthetic process [inference]

macromolecule biosynthetic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process

chondroitin sulfate biosynthetic process

glycoprotein biosynthetic process [inference]

proteoglycan biosynthetic process

carbohydrate derivative biosynthetic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process

chondroitin sulfate biosynthetic process

glycoprotein biosynthetic process [inference]

proteoglycan biosynthetic process

organonitrogen compound biosynthetic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process

chondroitin sulfate biosynthetic process

glycoprotein biosynthetic process [inference]

proteoglycan biosynthetic process

cellular process [inference]

cellular metabolic process [inference]

sulfur compound metabolic process [inference]

chondroitin sulfate metabolic process [inference]

chondroitin sulfate biosynthetic process

sulfur compound biosynthetic process [inference]

cellular biosynthetic process [inference]

macromolecule biosynthetic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process

chondroitin sulfate biosynthetic process

glycoprotein biosynthetic process [inference]

proteoglycan biosynthetic process

sulfur compound biosynthetic process [inference]

Displaying entries **1 - 5** of 6 in total

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GO Term	Evidence Code	PMID
Golgi membrane	TAS
Golgi membrane	IBA
Golgi apparatus	IMP	29443383
Golgi medial cisterna	IDA	11551958
membrane	HDA	19946888

GO Hierarchy

cellular component

cellular anatomical entity [inference]

membrane

organelle membrane [inference]

Golgi cisterna membrane

bounding membrane of organelle [inference]

Golgi membrane

organelle subcompartment [inference]

Golgi apparatus subcompartment [inference]

Golgi cisterna [inference]

Golgi medial cisterna

organelle [inference]

membrane-bounded organelle [inference]

intracellular membrane-bounded organelle [inference]

Golgi apparatus

intracellular organelle [inference]

intracellular membrane-bounded organelle [inference]

Golgi apparatus

Displaying **all 4** entries
GO Term	Evidence Code	PMID
UDP-galactosyltransferase activity	IDA	11551958
galactosylxylosylprotein 3-beta-galactosyltransferase activity	TAS
galactosylxylosylprotein 3-beta-galactosyltransferase activity	IMP	29443383
galactosylxylosylprotein 3-beta-galactosyltransferase activity	IBA

GO Hierarchy

molecular function

catalytic activity [inference]

transferase activity [inference]

glycosyltransferase activity [inference]

UDP-glycosyltransferase activity [inference]

UDP-galactosyltransferase activity

galactosylxylosylprotein 3-beta-galactosyltransferase activity

hexosyltransferase activity [inference]

galactosyltransferase activity [inference]

UDP-galactosyltransferase activity

galactosylxylosylprotein 3-beta-galactosyltransferase activity

catalytic activity, acting on a protein [inference]

catalytic activity, acting on a glycoprotein [inference]

galactosylxylosylprotein 3-beta-galactosyltransferase activity

Gene Ontology information from NCBI Gene and UniProt.

OrthoDB (Group)

Group level

Eukaryota

Group Name

Ubiquitin-conjugating enzyme, E2

Functional Category

M: Cell wall/membrane/envelope biogenesis
O: Posttranslational modification, protein turnover, chaperones
T: Signal transduction mechanisms

Displaying 1 entry
Gene Ontology
transferase activity

Displaying **all 2** entries
InterPro
Ubiquitin-conjugating enzyme E2
Ubiquitin-conjugating enzyme/RWD-like

GlycoGene Database (GGDB)

GGDB ID

gg074

Gene Symbol

B3GALT6

Reactions

Displaying 1 entry
Donor	Acceptor	Reducing terminal(Acceptor)	Product	Reducing terminal(Product)	Reference
UDP-Gal	G78098IA	Benzyl	G87877ES	Benzyl	11551958

Displaying **all 5** entries
Donor	Acceptor	Reducing terminal(Acceptor)	Product	Reducing terminal(Product)	Reference
UDP-Gal	G95894VW	naphothalenemethanol	G59103JC	naphothalenemethanol	11551958
UDP-Gal	G00055MO	naphothalenemethanol	G35116BF	naphothalenemethanol	11551958
UDP-Gal	G65889KE	naphothalenemethanol	G95894VW	naphothalenemethanol	11551958
UDP-Gal	G00031MO	naphothalenemethanol	G70693FX	naphothalenemethanol	11551958
UDP-Gal	G78098IA	Benzyl	G87877ES	Benzyl	11551958

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Donor	Acceptor	Reducing terminal(Acceptor)	Reference
UDP-Gal	G00056MO	naphothalenemethanol	11551958
UDP-Gal	G33476GF	naphothalenemethanol	11551958
UDP-Gal	G65889KE	para-nitrophenol	11551958
UDP-Gal	G57321FI	naphothalenemethanol, para-nitrophenol	11551958
UDP-Gal	G57321FI	Benzyl, para-nitrophenol	11551958

Orthologous Gene

Displaying **all 4** entries
Species	Protein	mRNA
Drosophila melanogaster	NP_610399	NM_136555
Caenorhabditis elegans	NP_494394	NM_061993
Mus musculus	NP_536693	NM_080445
Rattus norvegicus	XP_233721	NM233721

KEGG BRITE Database

Orthology

K00734

Name

galactosylxylosylprotein 3-beta-galactosyltransferase [EC:2.4.1.134]

References

11551958

Reactions

Displaying 1 entry
KEGG Reaction	Enzyme	Acceptor	Product
R05927	2.4.1.134	G78098IA	G87877ES

Rhea

RHEA:11780

UDP-α-D-galactose

H⁺ + UDP

Enzyme

2.4.1.134

PMID

Disease

Disease Ontology

Displaying **all 2** entries
DO ID	Disease Name	Source
DOID:0050802	Ehlers-Danlos syndrome spondylodysplastic type 2	Alliance of Genome Resources
DOID:0112198	spondyloepimetaphyseal dysplasia with joint laxity type 1	Alliance of Genome Resources

The Human Phenotype Ontology

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HPO ID	HPO Term
HP:0000369	Low-set ears
HP:0000410	Mixed hearing impairment
HP:0000463	Anteverted nares
HP:0000470	Short neck
HP:0000473	Torticollis
HP:0000482	Microcornea
HP:0000501	Glaucoma
HP:0000520	Proptosis
HP:0000545	Myopia
HP:0000592	Blue sclerae

Displaying **all 4** entries
Disease ID	Disease Name
ORPHA:536467	Ehlers-Danlos syndrome, spondylodysplastic type, 2
OMIM:615349	Ehlers-Danlos syndrome, spondylodysplastic type, 2
OMIM:271640	spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures
OMIM:609465	Al-Gazali syndrome

PubChem Disease

MedGen Diseases

OMIM Phenotypes

KEGG Diseases

Gene-Disease-Co-Occurrences-in-Literature (PubChem)

Ortholog

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Species	Gene ID	Alliance of Genome Resources	Orthologous MAtrix
Xenopus tropicalis	35848	Xenbase:XB-GENE-974114
Mus musculus	117592	Xenbase:XB-GENE-974114	MOUSE41324
Xenopus tropicalis	126792	Xenbase:XB-GENE-974114
Xenopus tropicalis	173635	Xenbase:XB-GENE-974114
Rattus norvegicus	298690	Xenbase:XB-GENE-974114	RATNO32369
Pan troglodytes	457187		PANTR19633
Bos taurus	522406		BOVIN08516
Xenopus tropicalis	548849	Xenbase:XB-GENE-974114
Danio rerio	572324	Xenbase:XB-GENE-974114	DANRE02788
Macaca mulatta	703713		MACMU24450

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

LM-GlycoRepo

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Other Information

Tools

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Guidelines

Summary

External Links

Annotation

OrthoDB (Group)

GlycoGene Database (GGDB)

KEGG BRITE Database

PubChem Disease

International Collaboration

Acknowledgements