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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 entry **6 - 6** of 6 in total

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GO Term	Evidence Code	PMID
protein O-linked glycosylation via mannose	IBA

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

Displaying entries **1 - 5** of 8 in total

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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

Displaying entries **1 - 5** of 8 in total

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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.

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	G58896AZ	Cer	G70874WW	Cer	9405606
UDP-GlcNAc	G00055MO	R	G29487JS	R	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

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
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

Displaying **all 8** entries
Species	Gene ID	Alliance of Genome Resources
Danio rerio	101669768	ZFIN:ZDB-GENE-121001-5
Mus musculus	108902	MGI:1919680
Xenopus tropicalis	100170600	Xenbase:XB-GENE-1007367
Xenopus laevis	108713949	Xenbase:XB-GENE-17339030
Caenorhabditis elegans	182795	WB:WBGene00015982
Rattus norvegicus	293667	RGD:1309541
Caenorhabditis elegans	3565692	WB:WBGene00010694
Drosophila melanogaster	37861	FB:FBgn0041706

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

LM-GlycoRepo

All Resources

Other Information

Tools

Search Tools

Guidelines

Summary

External Links

Annotation

GlycoGene Database (GGDB)

KEGG BRITE Database

PubChem Disease

LIPID MAPS Gene / Proteome Database

International Collaboration

Acknowledgements