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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

JoGo

B4GAT1

TogoVar

B4GAT1

Annotation

Keyword

Congenital muscular dystrophy
Disease variant
Dystroglycanopathy
Glycoprotein
Glycosyltransferase
Golgi apparatus
Lissencephaly
Manganese
Metal-binding
Proteomics identification
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 entries **1 - 5** of 6 in total

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GO Term	Evidence Code	PMID
axon guidance
glycoprotein biosynthetic process	IEA
keratan sulfate proteoglycan biosynthetic process	TAS
poly-N-acetyllactosamine biosynthetic process	IDA
protein O-linked glycosylation via mannose	IDA

GO Hierarchy

biological process

cellular process [inference]

metabolic process [inference]

biosynthetic process [inference]

macromolecule biosynthetic process [inference]

aminoglycan biosynthetic process [inference]

poly-N-acetyllactosamine biosynthetic process

glycoprotein biosynthetic process

protein O-linked glycosylation [inference]

protein O-linked glycosylation via mannose

proteoglycan biosynthetic process [inference]

keratan sulfate proteoglycan biosynthetic process

carbohydrate derivative biosynthetic process [inference]

aminoglycan biosynthetic process [inference]

poly-N-acetyllactosamine biosynthetic process

glycoprotein biosynthetic process

protein O-linked glycosylation [inference]

protein O-linked glycosylation via mannose

proteoglycan biosynthetic process [inference]

keratan sulfate proteoglycan biosynthetic process

macromolecule metabolic process [inference]

aminoglycan metabolic process [inference]

aminoglycan biosynthetic process [inference]

poly-N-acetyllactosamine biosynthetic process

poly-N-acetyllactosamine metabolic process [inference]

poly-N-acetyllactosamine biosynthetic process

macromolecule biosynthetic process [inference]

aminoglycan biosynthetic process [inference]

poly-N-acetyllactosamine biosynthetic process

glycoprotein biosynthetic process

protein O-linked glycosylation [inference]

protein O-linked glycosylation via mannose

proteoglycan biosynthetic process [inference]

keratan sulfate proteoglycan biosynthetic process

protein metabolic process [inference]

glycoprotein metabolic process [inference]

proteoglycan metabolic process [inference]

proteoglycan biosynthetic process [inference]

keratan sulfate proteoglycan biosynthetic process

keratan sulfate proteoglycan metabolic process [inference]

keratan sulfate proteoglycan biosynthetic process

glycoprotein biosynthetic process

protein O-linked glycosylation [inference]

protein O-linked glycosylation via mannose

proteoglycan biosynthetic process [inference]

keratan sulfate proteoglycan biosynthetic process

primary metabolic process [inference]

protein metabolic process [inference]

glycoprotein metabolic process [inference]

proteoglycan metabolic process [inference]

proteoglycan biosynthetic process [inference]

keratan sulfate proteoglycan biosynthetic process

keratan sulfate proteoglycan metabolic process [inference]

keratan sulfate proteoglycan biosynthetic process

glycoprotein biosynthetic process

protein O-linked glycosylation [inference]

protein O-linked glycosylation via mannose

proteoglycan biosynthetic process [inference]

keratan sulfate proteoglycan biosynthetic process

carbohydrate derivative metabolic process [inference]

aminoglycan metabolic process [inference]

aminoglycan biosynthetic process [inference]

poly-N-acetyllactosamine biosynthetic process

poly-N-acetyllactosamine metabolic process [inference]

poly-N-acetyllactosamine biosynthetic process

glycoprotein metabolic process [inference]

proteoglycan metabolic process [inference]

proteoglycan biosynthetic process [inference]

keratan sulfate proteoglycan biosynthetic process

keratan sulfate proteoglycan metabolic process [inference]

keratan sulfate proteoglycan biosynthetic process

glycoprotein biosynthetic process

protein O-linked glycosylation [inference]

protein O-linked glycosylation via mannose

proteoglycan biosynthetic process [inference]

keratan sulfate proteoglycan biosynthetic process

carbohydrate derivative biosynthetic process [inference]

aminoglycan biosynthetic process [inference]

poly-N-acetyllactosamine biosynthetic process

glycoprotein biosynthetic process

protein O-linked glycosylation [inference]

protein O-linked glycosylation via mannose

proteoglycan biosynthetic process [inference]

keratan sulfate proteoglycan 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

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GO Term	Evidence Code	PMID
Golgi membrane	EXP
Golgi membrane	NAS
Golgi membrane	TAS
Golgi membrane	IEA
Golgi apparatus	IDA

GO Hierarchy

cellular component

cellular anatomical structure [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

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GO Term	Evidence Code	PMID
protein binding	IPI
N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity	TAS
N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity	IDA
glucuronosyltransferase activity	IDA
glucuronosyltransferase activity	IMP

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

small molecule binding [inference]

ion binding [inference]

cation binding [inference]

metal ion binding

Gene Ontology information from NCBI Gene and UniProt.

OrthoDB (Group)

Group level

Eukaryota

Group Name

Beta-1

Functional Category

E: Amino acid transport and metabolism
O: Posttranslational modification, protein turnover, chaperones
T: Signal transduction mechanisms

Displaying **all 2** entries
Gene Ontology
protein O-linked mannosylation
transferase activity

Displaying 1 entry
InterPro
Beta-1,4-glucuronyltransferase 1

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	Reducing terminal(Acceptor)	Product	Reducing terminal(Product)	Reference
UDP-GlcA	G16579HJ	R	G42293RF	R	25279697
UDP-GlcNAc	G00055MO	R	G29487JS	R	9405606

Displaying **all 3** entries
Donor	Acceptor	Reducing terminal(Acceptor)	Product	Reducing terminal(Product)	Reference
UDP-GlcA	G16579HJ	R	G42293RF	R	25279697 25279699
UDP-GlcNAc	G00055MO	R	G29487JS	R	9405606
UDP-GlcNAc	G58896AZ	Cer	G70874WW	Cer	9405606

Orthologous Gene

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

KEGG BRITE Database

Orthology

K21032

Name

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

References

25279697

Disease

Disease Ontology

Displaying 1 entry
DO ID	Disease Name	Source
DOID:0111238	congenital muscular dystrophy-dystroglycanopathy type A13	Alliance of Genome Resources

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
OMIM:615287	muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
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

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

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

LM-GlycoRepo

All Resources

Other Information

Tools

Search Tools

Guidelines

Summary

External Links

Annotation

OrthoDB (Group)

GlycoGene Database (GGDB)

KEGG BRITE Database

PubChem Disease

LIPID MAPS Gene / Proteome Database

International Collaboration

Acknowledgements