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beta-1,4-glucuronyltransferase 1

Summary

Gene Symbol

B4GAT1

Aliases

B3GN-T1
BETA3GNTI
IGnT
N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase
iGAT

Organism

Homo sapiens (human)

External Links

NCBI Gene

11041

GGDB ID

gg115

HGNC

15685

mRNA

NM_006876

map

11q13.1

Protein

NP_006867

OMIM

605517

KEGG Gene ID

hsa:11041

PubChem

11041

Alliance of Genome Resources

HGNC:15685

Annotation

Keyword

Congenital muscular dystrophy
Disease variant
Dystroglycanopathy
Glycoprotein
Glycosyltransferase
Golgi apparatus
Lissencephaly
Manganese
Metal-binding
Reference proteome
Signal-anchor
Transmembrane helix

Proteins

Displaying 1 entry
UniProt	Protein Name
O43505	I-beta-1,3-N-acetylglucosaminyltransferase N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase Poly-N-acetyllactosamine extension enzyme UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1

Annotation information from UniProt.

Gene Ontology (GO)

Displaying **all 4** entries
GO Term	Evidence Code	PMID
poly-N-acetyllactosamine biosynthetic process	IDA	25279697 25279699
axon guidance	IEA
keratan sulfate biosynthetic process	TAS
protein O-linked mannosylation	IBA IDA	25279697 25279699

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 [inference]

keratan sulfate biosynthetic process

poly-N-acetyllactosamine biosynthetic process

glycosaminoglycan metabolic process [inference]

glycosaminoglycan biosynthetic process [inference]

keratan sulfate biosynthetic process

mucopolysaccharide metabolic process [inference]

keratan sulfate metabolic process [inference]

keratan sulfate biosynthetic process

poly-N-acetyllactosamine metabolic process [inference]

poly-N-acetyllactosamine biosynthetic process

protein metabolic process [inference]

protein modification process [inference]

protein glycosylation [inference]

protein O-linked glycosylation [inference]

protein O-linked mannosylation

protein mannosylation [inference]

protein O-linked mannosylation

organonitrogen compound biosynthetic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process [inference]

keratan sulfate biosynthetic process

poly-N-acetyllactosamine biosynthetic process

biosynthetic process [inference]

cellular biosynthetic process [inference]

macromolecule biosynthetic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process [inference]

keratan sulfate biosynthetic process

poly-N-acetyllactosamine biosynthetic process

sulfur compound biosynthetic process [inference]

keratan sulfate biosynthetic process

organic substance biosynthetic process [inference]

macromolecule biosynthetic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process [inference]

keratan sulfate biosynthetic process

poly-N-acetyllactosamine biosynthetic process

carbohydrate derivative biosynthetic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process [inference]

keratan sulfate biosynthetic process

poly-N-acetyllactosamine biosynthetic process

organonitrogen compound biosynthetic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process [inference]

keratan sulfate biosynthetic process

poly-N-acetyllactosamine biosynthetic process

cellular metabolic process [inference]

sulfur compound metabolic process [inference]

keratan sulfate metabolic process [inference]

keratan sulfate biosynthetic process

sulfur compound biosynthetic process [inference]

keratan sulfate biosynthetic process

cellular biosynthetic process [inference]

macromolecule biosynthetic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process [inference]

keratan sulfate biosynthetic process

poly-N-acetyllactosamine biosynthetic process

sulfur compound biosynthetic process [inference]

keratan sulfate biosynthetic process

primary metabolic process [inference]

protein metabolic process [inference]

protein modification process [inference]

protein glycosylation [inference]

protein O-linked glycosylation [inference]

protein O-linked mannosylation

protein mannosylation [inference]

protein O-linked mannosylation

glycosylation [inference]

macromolecule glycosylation [inference]

protein glycosylation [inference]

protein O-linked glycosylation [inference]

protein O-linked mannosylation

protein mannosylation [inference]

protein O-linked mannosylation

mannosylation [inference]

protein mannosylation [inference]

protein O-linked mannosylation

organic substance metabolic process [inference]

macromolecule metabolic process [inference]

aminoglycan metabolic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process [inference]

keratan sulfate biosynthetic process

poly-N-acetyllactosamine biosynthetic process

glycosaminoglycan metabolic process [inference]

glycosaminoglycan biosynthetic process [inference]

keratan sulfate biosynthetic process

mucopolysaccharide metabolic process [inference]

keratan sulfate metabolic process [inference]

keratan sulfate biosynthetic process

poly-N-acetyllactosamine metabolic process [inference]

poly-N-acetyllactosamine biosynthetic process

macromolecule biosynthetic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process [inference]

keratan sulfate biosynthetic process

poly-N-acetyllactosamine biosynthetic process

protein metabolic process [inference]

protein modification process [inference]

protein glycosylation [inference]

protein O-linked glycosylation [inference]

protein O-linked mannosylation

protein mannosylation [inference]

protein O-linked mannosylation

macromolecule modification [inference]

protein modification process [inference]

protein glycosylation [inference]

protein O-linked glycosylation [inference]

protein O-linked mannosylation

protein mannosylation [inference]

protein O-linked mannosylation

macromolecule glycosylation [inference]

protein glycosylation [inference]

protein O-linked glycosylation [inference]

protein O-linked mannosylation

protein mannosylation [inference]

protein O-linked mannosylation

carbohydrate derivative metabolic process [inference]

aminoglycan metabolic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process [inference]

keratan sulfate biosynthetic process

poly-N-acetyllactosamine biosynthetic process

glycosaminoglycan metabolic process [inference]

glycosaminoglycan biosynthetic process [inference]

keratan sulfate biosynthetic process

mucopolysaccharide metabolic process [inference]

keratan sulfate metabolic process [inference]

keratan sulfate biosynthetic process

poly-N-acetyllactosamine metabolic process [inference]

poly-N-acetyllactosamine biosynthetic process

carbohydrate derivative biosynthetic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process [inference]

keratan sulfate biosynthetic process

poly-N-acetyllactosamine biosynthetic process

organonitrogen compound metabolic process [inference]

aminoglycan metabolic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process [inference]

keratan sulfate biosynthetic process

poly-N-acetyllactosamine biosynthetic process

glycosaminoglycan metabolic process [inference]

glycosaminoglycan biosynthetic process [inference]

keratan sulfate biosynthetic process

mucopolysaccharide metabolic process [inference]

keratan sulfate metabolic process [inference]

keratan sulfate biosynthetic process

poly-N-acetyllactosamine metabolic process [inference]

poly-N-acetyllactosamine biosynthetic process

protein metabolic process [inference]

protein modification process [inference]

protein glycosylation [inference]

protein O-linked glycosylation [inference]

protein O-linked mannosylation

protein mannosylation [inference]

protein O-linked mannosylation

organonitrogen compound biosynthetic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process [inference]

keratan sulfate biosynthetic process

poly-N-acetyllactosamine biosynthetic process

organic substance biosynthetic process [inference]

macromolecule biosynthetic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process [inference]

keratan sulfate biosynthetic process

poly-N-acetyllactosamine biosynthetic process

carbohydrate derivative biosynthetic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process [inference]

keratan sulfate biosynthetic process

poly-N-acetyllactosamine biosynthetic process

organonitrogen compound biosynthetic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process [inference]

keratan sulfate biosynthetic process

poly-N-acetyllactosamine biosynthetic process

cellular process [inference]

cellular metabolic process [inference]

sulfur compound metabolic process [inference]

keratan sulfate metabolic process [inference]

keratan sulfate biosynthetic process

sulfur compound biosynthetic process [inference]

keratan sulfate biosynthetic process

cellular biosynthetic process [inference]

macromolecule biosynthetic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process [inference]

keratan sulfate biosynthetic process

poly-N-acetyllactosamine biosynthetic process

sulfur compound biosynthetic process [inference]

keratan sulfate biosynthetic process

cellular component organization or biogenesis [inference]

cellular component organization [inference]

cell projection organization [inference]

plasma membrane bounded cell projection organization [inference]

neuron projection development [inference]

neuron projection guidance [inference]

axon guidance

Displaying **all 3** entries
GO Term	Evidence Code	PMID
Golgi apparatus	IBA IDA IMP	23359570 25279699
extracellular exosome	HDA	23533145
Golgi membrane	NAS TAS	9405606

GO Hierarchy

cellular component

cellular anatomical entity [inference]

membrane [inference]

organelle membrane [inference]

bounding membrane of organelle [inference]

Golgi membrane

organelle [inference]

membrane-bounded organelle [inference]

vesicle [inference]

extracellular vesicle [inference]

extracellular exosome

intracellular membrane-bounded organelle [inference]

Golgi apparatus

extracellular membrane-bounded organelle [inference]

extracellular vesicle [inference]

extracellular exosome

intracellular organelle [inference]

intracellular membrane-bounded organelle [inference]

Golgi apparatus

extracellular organelle [inference]

extracellular membrane-bounded organelle [inference]

extracellular vesicle [inference]

extracellular exosome

Displaying **all 4** entries
GO Term	Evidence Code	PMID
N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity	IDA TAS	25279697 25279699
metal ion binding	IEA
protein binding	IPI	19587235 28514442
glucuronosyltransferase activity	IBA IDA IMP	23359570 25279697 25279699

GO Hierarchy

molecular function

catalytic activity [inference]

transferase activity [inference]

glycosyltransferase activity [inference]

UDP-glycosyltransferase activity [inference]

acetylglucosaminyltransferase activity [inference]

N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity

glucuronosyltransferase activity

hexosyltransferase activity [inference]

acetylglucosaminyltransferase activity [inference]

N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity

glucuronosyltransferase activity

binding [inference]

protein binding

ion binding [inference]

cation binding [inference]

metal ion binding

Gene Ontology information from NCBI Gene and UniProt.

Human Protein Atlas

ENSG00000174684

Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.

Data available from v23.0.proteinatlas.org. Image credit: Human Protein Atlas

GlycoGene Database (GGDB)

GGDB ID

gg115

Gene Symbol

B4GAT1

Reactions

Displaying **all 2** entries
Donor	Acceptor	Product	Reference
UDP-GlcNAc	G00055MO	G29487JS	9405606
UDP-GlcA	G16579HJ	G42293RF	25279697

Displaying **all 3** entries
Donor	Acceptor	Product	Reference
UDP-GlcNAc	G00055MO	G29487JS	9405606
UDP-GlcA	G16579HJ	G42293RF	25279697 25279699
UDP-GlcNAc	G58896AZ	G70874WW	9405606

Orthologous Gene

Displaying **all 2** entries
Species	Protein	mRNA
Rattus norvegicus	XP_219693	XM_219693
Mus musculus	NP_780592	NM_175383

KEGG BRITE Database

Orthology

K21032

Name

beta-1,4-glucuronyltransferase 1 [EC:2.4.1.-]

References

25279697

Disease

Disease Ontology

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DO ID	Disease Name	Source
DOID:0050453	lissencephaly	DisGeNET
DOID:0050557	congenital muscular dystrophy	DisGeNET
DOID:0050559	Fukuyama congenital muscular dystrophy	DisGeNET
DOID:0050560	Walker-Warburg syndrome	DisGeNET Alliance of Genome Resources
DOID:0050588	muscular dystrophy-dystroglycanopathy type B1	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:0050777	Joubert syndrome	DisGeNET
DOID:0060255	rippling muscle disease 2	DisGeNET
DOID:0060270	pontocerebellar hypoplasia type 2D	DisGeNET
DOID:0060276	pontocerebellar hypoplasia type 7	DisGeNET
DOID:0060277	pontocerebellar hypoplasia type 8	DisGeNET

The Human Phenotype Ontology

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HPO ID	HPO Term
HP:0000003	Multicystic kidney dysplasia
HP:0000007	Autosomal recessive inheritance
HP:0000028	Cryptorchidism
HP:0000054	Micropenis
HP:0000126	Hydronephrosis
HP:0000175	Cleft palate
HP:0000176	Submucous cleft hard palate
HP:0000193	Bifid uvula
HP:0000238	Hydrocephalus
HP:0000252	Microcephaly

Displaying **all 2** entries
Disease ID	Disease Name
ORPHA:899	muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 muscular dystrophy-dystroglycanopathy, type A
OMIM:615287	muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13

PubChem Disease

MedGen Diseases

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13

OMIM Phenotypes

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13; MDDGA13

KEGG Diseases

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

LIPID MAPS Gene / Proteome Database

LMPD ID: LMP000587
Gene Name: UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1

Ortholog

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Species	Gene ID	Alliance of Genome Resources	Orthologous MAtrix
Caenorhabditis elegans	182795	WB:WBGene00015982
Caenorhabditis elegans	183769	WB:WBGene00008290
Caenorhabditis elegans	184798	WB:WBGene00009032
Caenorhabditis elegans	184865	WB:WBGene00017723
Caenorhabditis elegans	186417	WB:WBGene00010167
Caenorhabditis elegans	188531	WB:WBGene00011779
Caenorhabditis elegans	3564773	WB:WBGene00008491
Caenorhabditis elegans	3565692	WB:WBGene00010694
Drosophila melanogaster	37861	FB:FBgn0041706
Ciona intestinalis	100183936		CIOIN15667

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

All Resources

Other Information

Tools

Search Tools

Summary

External Links

Annotation

GlycoGene Database (GGDB)

KEGG BRITE Database

PubChem Disease

LIPID MAPS Gene / Proteome Database

International Collaboration

Acknowledgements