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

Gene ID: 381694, updated on 11-Apr-2024

Summary

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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
Predicted to enable acetylglucosaminyltransferase activity. Predicted to act upstream of or within fucose metabolic process. Predicted to be located in endoplasmic reticulum and membrane. Predicted to be integral component of 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, Apr 2022]
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

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See B3glct in Genome Data Viewer
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_000071.7Genomic Context describing neighboring genes Neighboring gene heat shock 105kDa/110kDa protein 1 Neighboring gene predicted gene, 20005 Neighboring gene STARR-seq mESC enhancer starr_14940 Neighboring gene NME/NM23 nucleoside diphosphate kinase, pseudogene 1 Neighboring gene STARR-seq mESC enhancer starr_14941 Neighboring gene predicted gene, 36141 Neighboring gene predicted gene, 38587 Neighboring gene STARR-seq mESC enhancer starr_14942 Neighboring gene predicted gene, 21221

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. Molecular cloning and characterization of a novel human beta1,3-glucosyltransferase, which is localized at the endoplasmic reticulum and glucosylates O-linked fucosylglycan on thrombospondin type 1 repeat domain. Sato T, et al. Glycobiology, 2006 Dec. PMID 16899492
  2. ADAMTS9 and ADAMTS20 are differentially affected by loss of B3GLCT in mouse model of Peters plus syndrome. Holdener BC, et al. Hum Mol Genet, 2019 Dec 15. PMID 31600785, Free PMC Article
  3. Hydrocephalus in mouse B3glct mutants is likely caused by defects in multiple B3GLCT substrates in ependymal cells and subcommissural organ. Neupane S, et al. Glycobiology, 2021 Sep 9. PMID 33909046, Free PMC Article
  4. Impaired ADAMTS9 secretion: A potential mechanism for eye defects in Peters Plus Syndrome. Dubail J, et al. Sci Rep, 2016 Sep 30. PMID 27687499, Free PMC Article
  5. Single-cell transcriptomic analysis reveals diversity within mammalian spinal motor neurons. Liau ES, et al. Nat Commun, 2023 Jan 3. PMID 36596814, Free PMC Article

See all (21) citations in PubMed

GeneRIFs: Gene References Into Functions

Variation

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Alleles

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

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables acetylglucosaminyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables glycosyltransferase activity IEA
Inferred from Electronic Annotation
more info
  
enables molecular_function ND
No biological Data available
more info
  
enables transferase activity IEA
Inferred from Electronic Annotation
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 carbohydrate metabolic process IEA
Inferred from Electronic Annotation
more info
  
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 
acts_upstream_of_or_within 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 
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 IEA
Inferred from Electronic Annotation
more info
  
located_in membrane IEA
Inferred from Electronic Annotation
more info
  

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
XP_030110487.1
XP_030110488.1

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)

  1. 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

  1. NC_000071.7 Reference GRCm39 C57BL/6J

    Range
    149601565..149686064
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    Conserved Domains (1) summary
    cl21608
    Location:348 → 550
    Galactosyl_T; Galactosyltransferase

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

    Conserved Domains (1) summary
    cl21608
    Location:348 → 367
    Galactosyl_T; Galactosyltransferase
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8BHT6.3 GenPept UniProtKB/Swiss-Prot:Q8BHT6

Gene LinkOut

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