B4GAT1 - beta-1,4-glucuronyltransferase 1 Gene

Homo sapiens

Also known as iGAT; iGNT; B3GNT1; B3GNT6; B3GN-T1; MDDGA13; BETA3GNTI

Gene ID: 11041 | Gene type: protein coding

About B4GAT1

Cytogenetic location: 11q13.2 Genomic coordinates (GRCh38): 11:66,345,374-66,347,629 (from NCBI)

This gene has 1 transcript (splice variant), 196 orthologues, 5 paralogues and is associated with 2 phenotypes. Broad expression in brain (RPKM 72.1), adrenal (RPKM 23.3) and 22 other tissues.

Summary

This gene encodes a member of the beta-1,3-N-acetylglucosaminyltransferase family. This Enzyme is a type II transmembrane protein. It is essential for the synthesis of poly-N-acetyllactosamine, a determinant for the blood group i antigen. [provided by RefSeq, Jul 2008]

B4GAT1 Products(1)

mRNA	Protein	Name
NM_006876.3	NP_006867.1	beta-1,4-glucuronyltransferase 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
NOT enables N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity	IDA IDA: Inferred from direct assay	25279697	GOA
enables glucuronosyltransferase activity	IDA IDA: Inferred from direct assay	25279697	GOA
enables glucuronosyltransferase activity	IMP IMP: Inferred from mutant phenotype	23359570	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	19587235	GOA

Biological Process GO Annotation	Evidence	Reference	Source
NOT involved in poly-N-acetyllactosamine biosynthetic process	IDA IDA: Inferred from direct assay	25279697	GOA
involved in protein O-linked mannosylation	IDA IDA: Inferred from direct assay	25279697	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in Golgi apparatus	IDA IDA: Inferred from direct assay	25279699	GOA
located in Golgi apparatus	IMP IMP: Inferred from mutant phenotype	23359570	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

B4GAT1 Protein Structure

Glyco_transf_49

0
100
200
300
415 a.a.

Protein Preferred Names

Protein Names

beta-1,4-glucuronyltransferase 1

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

B4GAT1 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	B4GAT1	O43505	LARGE1	Homo sapiens	O95461-1	Anti Tag CoIP	19587235
Intra	B4GAT1	O43505	LARGE2	Homo sapiens	Q8N3Y3	Anti Tag CoIP	28514442
Intra	B4GAT1	O43505	LARGE2	Homo sapiens	Q8N3Y3	Anti Tag CoIP	19587235

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant B4GAT1 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P7627	B3GNT1 Protein, Human (HEK293, His)	O43505 (D43-C415)	≥95%

Related Diseases

Diseases

Alias

Muscular Dystrophy-Dystroglycanopathy , Type A, 13

MDDGA13	Muscular Dystrophy-Dystroglycanopathy , Type A13
Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease, B3gnt1-Related	Muscular Dystrophy-Dystroglycanopathy Congenital With Brain And Eye Anomalies A13
Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease B3gnt1-Related	Dystrophy, Muscular, Dystroglycanopathy , Type A13

Walker-Warburg Syndrome

Hard Syndrome	Walker-Warburg Congenital Muscular Dystrophy
Cerebroocular Dysplasia-Muscular Dystrophy Syndrome	Cod-Md Syndrome
Chemke Syndrome	Hydrocephalus, Agyria And Retinal Dysplasia
Cerebroocular Dysgenesis	Cerebroocular Dysplasia Muscular Dystrophy Syndrome
Hard +/- E Syndrome	Pagon Syndrome
Warburg Syndrome	Hydrocephalus, Agyria, And Retinal Dysplasia
Mddga	Muscular Dystrophy-Dystroglycanopathy , Type A
Muscular Dystrophy-Dystroglycanopathy [With Brain And Eye Anomalies], Type A	Hydrocephalus-Agyria-Retinal Dysplasia Syndrome
Wws	Dystrophy, Muscular, Dystroglycanopathy, Type A

Muscular Dystrophy-Dystroglycanopathy , Type A, 1

Hard Syndrome	MDDGA1
Cerebroocular Dysplasia-Muscular Dystrophy Syndrome	Cod-Md Syndrome
Muscular Dystrophy-Dystroglycanopathy , Type A1	Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease, Pomt1-Related
Hydrocephalus, Agyria, And Retinal Dysplasia	Muscular Dystrophy-Dystroglycanopathy Congenital With Brain And Eye Anomalies A1
Cerebroocular Dysgenesis	Cod
Hard +/- E Syndrome	Hydrocephalus-Agyria-Retinal Dysplasia
Meb	Muscle-Eye-Brain Disease
Muscle-Eye-Brain Disease Pomt1-Related	Muscular Dystrophy Due To Defective Glycosylation Of Dystroglycan 1a
Walker-Warburg Syndrome	Walker-Warburg Syndrome Pomt1-Related
Warburg Syndrome	Wws
Dystrophy, Muscular, Dystroglycanopathy , Type A1	Walker-Warburg Congenital Muscular Dystrophy
Muscle Eye Brain Disease

Cobblestone Lissencephaly

Lissencephaly Type 2

Lissencephaly, Cobblestone

Muscle Eye Brain Disease

Muscle-Eye-Brain Disease	Muscle-Eye-Brain Syndrome
Meb	Muscular Dystrophy-Dystroglycanopathy Congenital With Brain And Eye Anomalies A3
Meb Syndrome	Santavuori Congenital Muscular Dystrophy

Muscular Dystrophy-Dystroglycanopathy

Cmd Due To Dystroglycanopathy	Congenital Muscular Dystrophy Due To Dystroglycanopathy
Mddg	Dystrophy, Muscular, Dystroglycanopathy

Lissencephaly

Pachygyria	Broad Gyri Of Cerebrum
Large Gyri Of Cerebrum	Macrogyria

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-E70179	β-1,4-Glucuronyltransferase 1		/	Unkown
HY-RS01326	B4GAT1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	B4GAT1	VGNC	VGNC:60066
Mus musculus	B4GAT1	MGD	MGI:1919680
Rattus norvegicus	B4GAT1	RGD	RGD:1309541
Bos taurus	B4GAT1	VGNC	VGNC:26395
Macaca mulatta	B4GAT1	VGNC	VGNC:70078
Canis familiaris	B4GAT1	VGNC	VGNC:38355

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