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    B3gat1 beta-1,3-glucuronyltransferase 1 [ Mus musculus (house mouse) ]

    Gene ID: 76898, updated on 27-Nov-2024

    Summary

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    Official Symbol
    B3gat1provided by MGI
    Official Full Name
    beta-1,3-glucuronyltransferase 1provided by MGI
    Primary source
    MGI:MGI:1924148
    See related
    Ensembl:ENSMUSG00000045994 AllianceGenome:MGI:1924148
    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
    Hnk1; Glcatp; GlcAT-P; 0710007K08Rik
    Summary
    Enables galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity. Involved in glycosaminoglycan biosynthetic process. Predicted to be located in endoplasmic reticulum membrane. Predicted to be active in Golgi membrane. Is expressed in several structures, including nervous system and neural retina. Orthologous to human B3GAT1 (beta-1,3-glucuronyltransferase 1). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in CNS E18 (RPKM 70.4), whole brain E14.5 (RPKM 54.3) and 5 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See B3gat1 in Genome Data Viewer
    Location:
    9 A4; 9 11.49 cM
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 9 NC_000075.7 (26644813..26672646)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 9 NC_000075.6 (26733723..26761350)

    Chromosome 9 - NC_000075.7Genomic Context describing neighboring genes Neighboring gene squamous cell carcinoma antigen recognized by T-cells 3 pseudogene Neighboring gene predicted gene, 30313 Neighboring gene STARR-seq mESC enhancer starr_23611 Neighboring gene STARR-seq mESC enhancer starr_23613 Neighboring gene galactosidase, beta 1-like 2 Neighboring gene galactosidase, beta 1 like 3

    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. HNK-1 (human natural killer-1) glyco-epitope is essential for normal spine morphogenesis in developing hippocampal neurons. Morita I, et al. Neuroscience, 2009 Dec 29. PMID 19796667
    2. Reactivity of anti-HNK-1 antibodies to branched O-mannose glycans associated with demyelination. Sakuda K, et al. Biochem Biophys Res Commun, 2017 May 27. PMID 28427937
    3. Mice deficient in nervous system-specific carbohydrate epitope HNK-1 exhibit impaired synaptic plasticity and spatial learning. Yamamoto S, et al. J Biol Chem, 2002 Jul 26. PMID 12032138
    4. Glycomimetic improves recovery after femoral injury in a non-human primate. Irintchev A, et al. J Neurotrauma, 2011 Jul. PMID 21463132
    5. Endoglin expression in early development is associated with vasculogenesis and angiogenesis. Jonker L, et al. Mech Dev, 2002 Jan. PMID 11744382

    See all (53) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Cellular glycan modification by B3GAT1 broadly restricts influenza virus infection.
      Title: Cellular glycan modification by B3GAT1 broadly restricts influenza virus infection.
    2. We then examined several HNK-1-related antibodies, including the Cat-315 antibody, for reactions with HNK-1-capped core M2 glycans. Finally, we confirmed the increased HNK-1 epitope expression in demyelinated brains of cuprizone-fed mice.
      Title: Reactivity of anti-HNK-1 antibodies to branched O-mannose glycans associated with demyelination.
    3. Results could lead to discovery of new roles of the human natural killer-1 (HNK-1) epitope in neural plasticity.
      Title: A Sulfated Glycosaminoglycan Linkage Region is a Novel Type of Human Natural Killer-1 (HNK-1) Epitope Expressed on Aggrecan in Perineuronal Nets.
    4. Alpha-Klotho expression is associated with expression of the non-sulfated HNK-1 epitope.
      Title: α-Klotho mice demonstrate increased expression of the non-sulfated N-glycan form of the HNK-1 glyco-epitope in kidney tissue.
    5. A linear HNK-1 mimetic peptide demonstrates potential as an efficient, feasible, and safe adjunct treatment for nerve injuries requiring surgical repair in cynomolgus monkeys.
      Title: Glycomimetic improves recovery after femoral injury in a non-human primate.
    6. the specific enzyme complex of beta4GalT-II with GlcAT-P plays an important role in the biosynthesis of HNK-1 carbohydrate.
      Title: Specific enzyme complex of beta-1,4-galactosyltransferase-II and glucuronyltransferase-P facilitates biosynthesis of N-linked human natural killer-1 (HNK-1) carbohydrate.
    7. HNK-1 epitope-carrying tenascin-C spliced variant regulates the proliferation of mouse embryonic neural stem cells.
      Title: HNK-1 epitope-carrying tenascin-C spliced variant regulates the proliferation of mouse embryonic neural stem cells.
    8. HNK-1 epitope on GluR2 regulates cell surface stability of GluR2 by modulating the interaction with N-cadherin
      Title: HNK-1 glyco-epitope regulates the stability of the glutamate receptor subunit GluR2 on the neuronal cell surface.
    9. TonEBP activation by calcium controls {beta}1,3-glucuronosyltransferase-I expression, a key regulator of glycosaminoglycan synthesis in cells of the intervertebral disc
      Title: Activation of TonEBP by calcium controls {beta}1,3-glucuronosyltransferase-I expression, a key regulator of glycosaminoglycan synthesis in cells of the intervertebral disc.
    10. the localization of HNK-1 carbohydrate was restricted partially in the brain of GlcAT-P-deficient mice
      Title: Distributions of glucuronyltransferases, GlcAT-P and GlcAT-S, and their target substrate, the HNK-1 carbohydrate epitope in the adult mouse brain with or without a targeted deletion of the GlcAT-P gene.
    Submit: New GeneRIF Correction See all GeneRIFs (13)

    Variation

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    Alleles

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

    Pathways from PubChem

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    General gene information

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    Markers

    Homology

    Clone Names

    • KIAA4235

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables galactosylgalactosylxylosylprotein 3-beta-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
    involved_in carbohydrate metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cellular response to hypoxia IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in chondroitin sulfate proteoglycan biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in glycosaminoglycan biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in protein glycosylation IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of visual learning IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in Golgi apparatus ISO
    Inferred from Sequence Orthology
    more info
    		 PubMed 
    is_active_in Golgi membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in Golgi membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in Golgi membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in endoplasmic reticulum membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in endoplasmic reticulum membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in intracellular membrane-bounded organelle ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 1
    Names
    UDP-GlcUA:glycoprotein beta-1,3-glucuronyltransferase
    glcUAT-P
    glucuronosyltransferase P
    NP_001297695.1
    NP_084068.1
    XP_006510737.1
    XP_030100573.1

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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_001310766.1 → NP_001297695.1  galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 1 isoform 1

      See identical proteins and their annotated locations for NP_001297695.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AK044599, AK082739, BC034655, BY626420
      Consensus CDS
      CCDS80970.1
      UniProtKB/TrEMBL
      Q5DTF9
      Related
      ENSMUSP00000124067.2, ENSMUST00000160899.8
      Conserved Domains (1) summary
      cd00218
      Location:97 → 329
      GlcAT-I; Beta1,3-glucuronyltransferase I (GlcAT-I) is involved in the initial steps of proteoglycan synthesis

    2. NM_029792.1 → NP_084068.1  galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 1 isoform 2

      See identical proteins and their annotated locations for NP_084068.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and uses a downstream start codon compared to variant 1. It encodes isoform 2, which has a shorter N-terminus compared to isoform 1.
      Source sequence(s)
      BC034655
      Consensus CDS
      CCDS22936.1
      UniProtKB/Swiss-Prot
      Q6PIG8, Q8BXN8, Q8R531, Q9CW73
      UniProtKB/TrEMBL
      Q5DTF9
      Related
      ENSMUSP00000125700.2, ENSMUST00000161115.8
      Conserved Domains (1) summary
      pfam03360
      Location:105 → 315
      Glyco_transf_43; Glycosyltransferase family 43

    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_000075.7 Reference GRCm39 C57BL/6J

      Range
      26644813..26672646
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006510674.3 → XP_006510737.1  galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 1 isoform X1

      See identical proteins and their annotated locations for XP_006510737.1

      UniProtKB/Swiss-Prot
      Q6PIG8, Q8BXN8, Q8R531, Q9CW73
      UniProtKB/TrEMBL
      Q5DTF9
      Related
      ENSMUSP00000124752.3, ENSMUST00000161431.3
      Conserved Domains (1) summary
      pfam03360
      Location:105 → 315
      Glyco_transf_43; Glycosyltransferase family 43

    2. XM_030244713.1 → XP_030100573.1  galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 1 isoform X2

      UniProtKB/TrEMBL
      Q8BLT8, Q8R1V2
      Conserved Domains (1) summary
      cd00218
      Location:27 → 259
      GlcAT-I; Beta1,3-glucuronyltransferase I (GlcAT-I) is involved in the initial steps of proteoglycan synthesis
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9CW73.3 GenPept UniProtKB/Swiss-Prot:Q9CW73

    Gene LinkOut

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

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