B4GAT1 - beta-1,4-glucuronyltransferase 1 Gene

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

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 11041

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 Références 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 Références 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 Références 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

Glyco_transf_49: Glycosyl-transferase for dystroglycan (94 - 409)

  • 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
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Références
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. Nom du produit Accession Pureté
HY-P7627 B3GNT1 Protein, Human (HEK293, His) O43505 (D43-C415) ≥ 95%, as determined by reducing SDS-PAGE.

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

Pre-clinical Phase

Bioactive Molecules (2)
Cat. No. Nom du produit
Effect
Pureté
Rare Diseases
HY-E70179 β-1,4-Glucuronyltransferase 1 / Unkown
HY-RS01326 B4GAT1 Human Pre-designed siRNA Set A Pre-designed Set / 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
Others B4GAT1 NCBI