B3glct beta-3-glucosyltransferase [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: B3glctprovided by MGI
Official Full Name: beta-3-glucosyltransferaseprovided by MGI
Primary source: MGI:MGI:2685903
See related: Ensembl:ENSMUSG00000051950 AllianceGenome:MGI:2685903
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: Gm1057; B3galtl; beta3Glc-T
Summary: Enables glycosyltransferase activity. Involved in protein O-linked fucosylation. Acts upstream of or within several processes, including cilium assembly; protein secretion; and roof of mouth development. Is active in endoplasmic reticulum membrane. Is expressed in cornea; hyaloid vascular plexus; lens; lens vesicle; and retina. Used to study Peters plus syndrome. Human ortholog(s) of this gene implicated in Peters plus syndrome. Orthologous to human B3GLCT (beta 3-glucosyltransferase). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in limb E14.5 (RPKM 4.9), CNS E18 (RPKM 4.4) and 27 other tissues See more
Orthologs: human all
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Genomic context

Location:: 5 G3; 5 89.18 cM

Exon count:: 17

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	5	NC_000071.7 (149601565..149686064)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	5	NC_000071.6 (149678100..149762599)

Chromosome 5 - NC_000071.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data 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?

Hydrocephalus in mouse B3glct mutants is likely caused by defects in multiple B3GLCT substrates in ependymal cells and subcommissural organ.
Title: Hydrocephalus in mouse B3glct mutants is likely caused by defects in multiple B3GLCT substrates in ependymal cells and subcommissural organ.
Results provide compelling evidence that ADAMTS9 and ADAMTS20 were differentially sensitive to B3GLCT inactivation and suggest that the developmental defects in PTRPLS result from disruption of a subset of highly sensitive POFUT2/B3GLCT targets such as ADAMTS20.
Title: ADAMTS9 and ADAMTS20 are differentially affected by loss of B3GLCT in mouse model of Peters plus syndrome.

Submit: New GeneRIF Correction

Variation

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Alleles

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

Targeted (7) 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
enables acetylglucosaminyltransferase activity	IBA Inferred from Biological aspect of Ancestor more info
enables glycosyltransferase activity	IDA Inferred from Direct Assay more info	PubMed
enables glycosyltransferase activity	IEA Inferred from Electronic Annotation more info
enables molecular_function	ND No biological Data available more info

Process	Evidence Code	Pubs
involved_in biological_process	ND No biological Data available more info
acts_upstream_of_or_within brain development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within camera-type eye development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cilium assembly	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cilium organization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cranial skeletal system development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in fucose metabolic process	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within limb development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein O-linked fucosylation	IDA Inferred from Direct Assay more info	PubMed
involved_in protein glycosylation	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within protein secretion	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within roof of mouth development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within skeletal system development	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in cellular_component	ND No biological Data available more info
located_in endoplasmic reticulum membrane	IEA Inferred from Electronic Annotation more info
is_active_in endoplasmic reticulum membrane	IMP Inferred from Mutant Phenotype more info	PubMed

General protein information

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Preferred Names: beta-1,3-glucosyltransferase

Names: beta 1,3-galactosyltransferase-like; beta-3-glycosyltransferase-like

NP_001074673.1

EC 2.4.1.122

XP_030110487.1

EC 2.4.1.122

XP_030110488.1

EC 2.4.1.122

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.

mRNA and Protein(s)

NM_001081204.2 → NP_001074673.1 beta-1,3-glucosyltransferase precursor

See identical proteins and their annotated locations for NP_001074673.1

Status: VALIDATED

Source sequence(s)

AC114342

Consensus CDS

CCDS39410.1

UniProtKB/Swiss-Prot

E9QMK8, Q0PCR7, Q149S5, Q8BHT6

Related

ENSMUSP00000097972.4, ENSMUST00000100404.6

Conserved Domains (1) summary

cl21608
Location:255 → 457

Galactosyl_T; Galactosyltransferase

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000071.7 Reference GRCm39 C57BL/6J

Range

149601565..149686064

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_030254627.1 → XP_030110487.1 beta-1,3-glucosyltransferase isoform X1

Conserved Domains (1) summary

cl21608
Location:348 → 550

Galactosyl_T; Galactosyltransferase
XM_030254628.2 → XP_030110488.1 beta-1,3-glucosyltransferase isoform X2

Conserved Domains (1) summary

cl21608
Location:348 → 367

Galactosyl_T; Galactosyltransferase