Contents

B3GNT1

Protein-coding gene in the species Homo sapiens

B4GAT1
Identifiers
Aliases	B4GAT1, B3GN-T1, B3GNT6, BETA3GNTI, MDDGA13, iGAT, iGNT, B3GNT1, beta-1,4-glucuronyltransferase 1
External IDs	OMIM: 605517; MGI: 1919680; HomoloGene: 38239; GeneCards: B4GAT1; OMA:B4GAT1 - orthologs
Gene location (Human) Chr. Chromosome 11 (human)[1] Band 11q13.2 Start 66,345,374 bp[1] End 66,347,629 bp[1]
Gene location (Mouse) Chr. Chromosome 19 (mouse)[2] Band 19|19 A Start 5,088,854 bp[2] End 5,091,159 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in endothelial cell middle temporal gyrus pons lateral nuclear group of thalamus superior vestibular nucleus prefrontal cortex Brodmann area 23 Brodmann area 9 Pars compacta superior frontal gyrus Top expressed in hypothalamus striatum of neuraxis hippocampus proper superior frontal gyrus primary visual cortex proximal tubule right kidney cerebellar cortex dentate gyrus of hippocampal formation granule cell mesencephalon More reference expression data BioGPS More reference expression data
Gene ontology Molecular function transferase activity glucuronosyltransferase activity metal ion binding glycosyltransferase activity N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity protein binding Cellular component integral component of membrane integral component of Golgi membrane Golgi membrane Golgi apparatus extracellular exosome membrane Biological process protein glycosylation poly-N-acetyllactosamine biosynthetic process keratan sulfate biosynthetic process protein O-linked mannosylation axon guidance protein O-linked glycosylation Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 11041 108902 Ensembl ENSG00000174684 ENSMUSG00000047379 UniProt O43505 Q8BWP8 RefSeq (mRNA) NM_006876 NM_175383 RefSeq (protein) NP_006867 NP_780592 Location (UCSC) Chr 11: 66.35 – 66.35 Mb Chr 19: 5.09 – 5.09 Mb PubMed search [3] [4]
Wikidata
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N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase is an enzyme that, in humans, is encoded by the B3GNT1 gene.^[5][6]

β-1,4-glucuronyltransferase[edit]

The B3GNT1 gene encodes a β-1,4-glucuronyltransferase, designated B4GAT1, that transfers glucuronic acid towards both α- and β-anomers of xylose.^[7] B4GAT1 is the priming enzyme for LARGE, a dual-activity glycosyltransferase that is capable of extending products of B4GAT1. Thus, B4GAT1 is involved in the initiation of the LARGE-dependent repeating disaccharide that is necessary for extracellular matrix protein binding to O-mannosylated α-dystroglycan that is lacking in secondary dystroglycanopathies.

Misidentification[edit]

The B3GNT1 gene was first reported to encode a member of the beta-1,3-N-acetylglucosaminyltransferase family and thought to be responsible for the synthesis of poly-N-acetyllactosamine,^[5] a determinant for the blood group i antigen. Thus, it was also known as iGNT.

References[edit]

Further reading[edit]

External links[edit]

• Human B3GNT6 genome location and B3GNT6 gene details page in the UCSC Genome Browser.
• Human B4GAT1 genome location and B4GAT1 gene details page in the UCSC Genome Browser.

This article on a gene on human chromosome 11 is a stub. You can help Wikipedia by expanding it.