B4GAT1 beta-1,4-glucuronyltransferase 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: B4GAT1provided by HGNC
Official Full Name: beta-1,4-glucuronyltransferase 1provided by HGNC
Primary source: HGNC:HGNC:15685
See related: Ensembl:ENSG00000174684 MIM:605517; AllianceGenome:HGNC:15685
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: iGAT; iGNT; B3GNT1; B3GNT6; B3GN-T1; MDDGA13; BETA3GNTI
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]
Expression: Broad expression in brain (RPKM 72.1), adrenal (RPKM 23.3) and 22 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 11q13.2

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (66345374..66347629, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (66339037..66341292, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (66112845..66115100, complement)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

B4GAT1 is involved in the initiation of the LARGE-dependent repeating disaccharide that is necessary for extracellular matrix protein binding to O-mannosylated alpha-dystroglycan.
Title: B4GAT1 is the priming enzyme for the LARGE-dependent functional glycosylation of α-dystroglycan.
report describes the first truncating mutation in B3GNT1 and confirms that this gene, which plays a role in alphaDG glycosylation, is a bona fide disease gene in Walker-Warburg syndrome
Title: A truncating mutation in B3GNT1 causes severe Walker-Warburg syndrome.
These functional studies identify an important role of B3GNT1 in the synthesis of the uncharacterized laminin-binding glycan of alpha-dystroglycan and implicate B3GNT1 as a novel causative gene for Walker-Warburg syndrome.
Title: Missense mutations in β-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker-Warburg syndrome.
These results identify a previously undescribed role of carbohydrate-dependent cell-basement membrane interaction in tumor suppression and its control by beta3GnT1 and LARGE.
Title: Tumor suppressor function of laminin-binding alpha-dystroglycan requires a distinct beta3-N-acetylglucosaminyltransferase.
These results demonstrate that B3GNT1 and B4GALT1 physically associate in vitro and in cultured cells, providing insight into possible mechanisms for regulation of polyLacNAc production.
Title: Association of beta-1,3-N-acetylglucosaminyltransferase 1 and beta-1,4-galactosyltransferase 1, trans-Golgi enzymes involved in coupled poly-N-acetyllactosamine synthesis.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 MedGen: C3809042 OMIM: 615287 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Nef	nef	The yeast two-hybrid screen identifies the HIV-1 Nef interacting human protein UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) in cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

STS-W44699 (e-PCR)
- UniSTS:81113

WI-20154 (e-PCR)
- UniSTS:8169

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
NOT enables N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity	IDA Inferred from Direct Assay more info	PubMed
enables N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity	TAS Traceable Author Statement more info
enables glucuronosyltransferase activity	IBA Inferred from Biological aspect of Ancestor more info
enables glucuronosyltransferase activity	IDA Inferred from Direct Assay more info	PubMed
enables glucuronosyltransferase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in axon guidance	IEA Inferred from Electronic Annotation more info
involved_in keratan sulfate biosynthetic process	TAS Traceable Author Statement more info
NOT involved_in poly-N-acetyllactosamine biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in protein O-linked mannosylation	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein O-linked mannosylation	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
is_active_in Golgi apparatus	IBA Inferred from Biological aspect of Ancestor more info
located_in Golgi apparatus	IDA Inferred from Direct Assay more info	PubMed
located_in Golgi apparatus	IMP Inferred from Mutant Phenotype more info	PubMed
located_in Golgi membrane	NAS Non-traceable Author Statement more info	PubMed
located_in Golgi membrane	TAS Traceable Author Statement more info
located_in extracellular exosome	HDA more info	PubMed

General protein information

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Preferred Names: beta-1,4-glucuronyltransferase 1

Names: N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase; UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1; UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6; beta-1,3-N-acetylglucosaminyltransferase bGnT-6; i-beta-1,3-N-acetylglucosaminyltransferase; poly-N-acetyllactosamine extension enzyme

NP_006867.1

EC 2.4.1.149

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.