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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 6 in total

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GO Term	Evidence Code	PMID
chondroitin sulfate biosynthetic process	IEA
proteoglycan biosynthetic process	IMP	29443383
protein O-linked glycosylation	IBA
heparan sulfate proteoglycan biosynthetic process	IEA
glycosaminoglycan metabolic process	TAS

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

heparan sulfate proteoglycan biosynthetic process

glycoprotein biosynthetic process [inference]

proteoglycan biosynthetic process

heparan sulfate 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

heparan sulfate 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

heparan sulfate 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

heparan sulfate 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

heparan sulfate 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

heparan sulfate 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

heparan sulfate 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

heparan sulfate proteoglycan biosynthetic process

glycoprotein biosynthetic process [inference]

proteoglycan biosynthetic process

heparan sulfate 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

heparan sulfate proteoglycan biosynthetic process

protein metabolic process [inference]

glycoprotein metabolic process [inference]

proteoglycan metabolic process [inference]

proteoglycan biosynthetic process

heparan sulfate proteoglycan biosynthetic process

glycoprotein biosynthetic process [inference]

proteoglycan biosynthetic process

heparan sulfate 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

heparan sulfate proteoglycan biosynthetic process

glycoprotein biosynthetic process [inference]

proteoglycan biosynthetic process

heparan sulfate 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

heparan sulfate 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

heparan sulfate proteoglycan biosynthetic process

glycoprotein biosynthetic process [inference]

proteoglycan biosynthetic process

heparan sulfate 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

heparan sulfate 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

heparan sulfate 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

heparan sulfate 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

heparan sulfate 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

heparan sulfate proteoglycan biosynthetic process

sulfur compound biosynthetic process [inference]

Displaying **all 5** entries
GO Term	Evidence Code	PMID
Golgi medial cisterna	IDA	11551958
membrane	HDA	19946888
Golgi apparatus	IMP	29443383
Golgi cisterna membrane	IEA
Golgi membrane	IBA TAS

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

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.

GlycoGene Database (GGDB)

GGDB ID

gg074

Gene Symbol

B3GALT6

Reactions

Displaying 1 entry
Donor	Acceptor	Product	Reference
UDP-Gal	G78098IA	G87877ES	11551958

Displaying **all 5** entries
Donor	Acceptor	Product	Reference
UDP-Gal	G78098IA	G87877ES	11551958
UDP-Gal	G00055MO	G35116BF	11551958
UDP-Gal	G00031MO	G70693FX	11551958
UDP-Gal	G65889KE	G95894VW	11551958
UDP-Gal	G95894VW	G59103JC	11551958

Displaying **all 5** entries
Donor	Acceptor	Reference
UDP-Gal	G16579HJ	11551958
UDP-Gal	G00056MO	11551958
UDP-Gal	G65889KE	11551958
UDP-Gal	G33476GF	11551958
UDP-Gal	G57321FI	11551958

Orthologous Gene

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

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 entries **1 - 10** of 77 in total

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DO ID	Disease Name	Source
DOID:0050387	nonpapillary renal cell carcinoma	DisGeNET
DOID:0050429	Hailey-Hailey disease	DisGeNET
DOID:0050802	Ehlers-Danlos syndrome spondylodysplastic type 2	DisGeNET DisGeNET Alliance of Genome Resources
DOID:0060249	scoliosis	DisGeNET DisGeNET
DOID:0060762	restrictive dermopathy	DisGeNET
DOID:0060862	mal de Meleda	DisGeNET
DOID:0070129	autosomal recessive cutis laxa type IID	DisGeNET
DOID:0070130	autosomal dominant cutis laxa 1	DisGeNET
DOID:0070131	autosomal dominant cutis laxa 3	DisGeNET
DOID:0070132	autosomal recessive cutis laxa type IIIA	DisGeNET

The Human Phenotype Ontology

Displaying entries **1 - 10** of **148** in total

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HPO ID	HPO Term
HP:0000007	Autosomal recessive inheritance
HP:0000126	Hydronephrosis
HP:0000175	Cleft palate
HP:0000218	High palate
HP:0000238	Hydrocephalus
HP:0000272	Malar flattening
HP:0000300	Oval face
HP:0000343	Long philtrum
HP:0000347	Micrognathia
HP:0000358	Posteriorly rotated ears

Displaying **all 4** entries
Disease ID	Disease Name
OMIM:615349	Ehlers-Danlos syndrome, spondylodysplastic type, 2
ORPHA:536467	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

Displaying entries **1 - 10** of 62 in total

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Species	Gene ID	Alliance of Genome Resources	Orthologous MAtrix
Caenorhabditis elegans	173635	WB:WBGene00005020
Drosophila melanogaster	35848	FB:FBgn0033315
Ciona intestinalis	778996		CIOIN04134
Callorhinchus milii	103187433		CALMI36742
Latimeria chalumnae	102355255		LATCH20271
Danio rerio	572324	ZFIN:ZDB-GENE-101104-13
Astyanax mexicanus	103027814		ASTMX05530
Ictalurus punctatus	108255271		ICTPU16205
Electrophorus electricus	113585544		ELEEL35973
Salmo salar	106582684		SALSA101841

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

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Other Information

Tools

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Summary

External Links

Annotation

GlycoGene Database (GGDB)

KEGG BRITE Database

PubChem Disease

International Collaboration

Acknowledgements