B4gat1 beta-1,4-glucuronyltransferase 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: B4gat1provided by MGI
Official Full Name: beta-1,4-glucuronyltransferase 1provided by MGI
Primary source: MGI:MGI:1919680
See related: Ensembl:ENSMUSG00000047379 AllianceGenome:MGI:1919680
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: iGAT; iGNT; B3gnt1; B3gnt6; BETA3GNT1; 1500032M01Rik
Summary: Predicted to enable glucuronosyltransferase activity. Acts upstream of or within axon guidance and protein glycosylation. Predicted to be located in Golgi membrane. Predicted to be active in Golgi apparatus. Is expressed in several structures, including alimentary system; genitourinary system; nervous system; respiratory system; and thymus. Used to study muscular dystrophy-dystroglycanopathy type B1. Human ortholog(s) of this gene implicated in congenital muscular dystrophy-dystroglycanopathy type A13. Orthologous to human B4GAT1 (beta-1,4-glucuronyltransferase 1). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Ubiquitous expression in ovary adult (RPKM 31.2), cerebellum adult (RPKM 27.7) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 19; 19 A

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	19	NC_000085.7 (5088854..5091162)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	19	NC_000085.6 (5038826..5041134)

Chromosome 19 - NC_000085.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

A glucuronic acid beta1,4-xylose disaccharide synthesized by B4GAT1 acts as an acceptor primer that can be elongated by LARGE with the ligand-binding heteropolysaccharide.
Title: The glucuronyltransferase B4GAT1 is required for initiation of LARGE-mediated α-dystroglycan functional glycosylation.
This study demonistrated that the axonal guidance defects observed in B3gnt1 mutant mice
Title: Dystroglycan organizes axon guidance cue localization and axonal pathfinding.
Impaired sexual behavior in male mice deficient for the beta1-3 N-acetylglucosaminyltransferase-I gene.
Title: Impaired sexual behavior in male mice deficient for the beta1-3 N-acetylglucosaminyltransferase-I gene.

Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Chemically induced (ENU) (1) 1 citation
Targeted (3) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
NOT enables N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity	ISS Inferred from Sequence or Structural Similarity more info
enables glucuronosyltransferase activity	IBA Inferred from Biological aspect of Ancestor more info
enables glucuronosyltransferase activity	ISO Inferred from Sequence Orthology more info
enables glucuronosyltransferase activity	ISS Inferred from Sequence or Structural Similarity more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within axon guidance	IMP Inferred from Mutant Phenotype more info	PubMed
NOT involved_in poly-N-acetyllactosamine biosynthetic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein O-linked mannosylation	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein O-linked mannosylation	ISO Inferred from Sequence Orthology more info
involved_in protein O-linked mannosylation	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within protein glycosylation	IMP Inferred from Mutant Phenotype 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	ISO Inferred from Sequence Orthology more info
located_in Golgi apparatus	ISS Inferred from Sequence or Structural Similarity more info
located_in Golgi membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: beta-1,4-glucuronyltransferase 1

Names: I-beta-1,3-N-acetylglucosaminyltransferase; 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; poly-N-acetyllactosamine extension enzyme

NP_780592.1

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.