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

    Gene ID: 381694, updated on 27-Nov-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
    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

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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. O-fucosylation of thrombospondin type I repeats is dispensable for trafficking thrombospondin 1 to platelet secretory granules. Berardinelli SJ, et al. Glycobiology, 2023 May 17. PMID 36721988, Free PMC Article
    3. 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
    4. 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
    5. 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

    See all (22) 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 IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    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 
    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
    		  
    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
    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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