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    Unc93b1 unc-93 homolog B1, TLR signaling regulator [ Mus musculus (house mouse) ]

    Gene ID: 54445, updated on 2-Nov-2024

    Summary

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    Official Symbol
    Unc93b1provided by MGI
    Official Full Name
    unc-93 homolog B1, TLR signaling regulatorprovided by MGI
    Primary source
    MGI:MGI:1859307
    See related
    Ensembl:ENSMUSG00000036908 AllianceGenome:MGI:1859307
    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
    Unc93b; Unc-93B1
    Summary
    Enables Toll-like receptor binding activity. Involved in endolysosomal toll-like receptor signaling pathway and intracellular protein transport. Acts upstream of or within several processes, including T cell antigen processing and presentation; antigen processing and presentation of exogenous peptide antigen via MHC class II; and positive regulation of cytokine production. Located in cytoplasmic vesicle; endoplasmic reticulum; and lysosome. Is expressed in brain; cerebral cortex; liver; lung; and spleen. Human ortholog(s) of this gene implicated in brain disease. Orthologous to human UNC93B1 (unc-93 homolog B1, TLR signaling regulator). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in spleen adult (RPKM 325.1), mammary gland adult (RPKM 128.7) and 15 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Unc93b1 in Genome Data Viewer
    Location:
    19 A; 19 3.65 cM
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 19 NC_000085.7 (3985222..3999340)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 19 NC_000085.6 (3935158..3949340)

    Chromosome 19 - NC_000085.7Genomic Context describing neighboring genes Neighboring gene NADH:ubiquinone oxidoreductase core subunit S8 Neighboring gene aldehyde dehydrogenase 3 family, member B1 Neighboring gene predicted gene, 42059 Neighboring gene STARR-positive B cell enhancer ABC_E7624 Neighboring gene STARR-seq mESC enhancer starr_45335 Neighboring gene aldehyde dehydrogenase 3 family, member B3 Neighboring gene aldehyde dehydrogenase 3 family, member B2 Neighboring gene STARR-positive B cell enhancer ABC_E7625 Neighboring gene predicted gene, 52386

    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 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. UNC93B1 mediates innate inflammation and antiviral defense in the liver during acute murine cytomegalovirus infection. Crane MJ, et al. PLoS One, 2012. PMID 22723955, Free PMC Article
    2. UNC93B1 mediates differential trafficking of endosomal TLRs. Lee BL, et al. Elife, 2013 Feb 19. PMID 23426999, Free PMC Article
    3. Double-stranded RNA of intestinal commensal but not pathogenic bacteria triggers production of protective interferon-β. Kawashima T, et al. Immunity, 2013 Jun 27. PMID 23791646
    4. No antigen-presentation defect in Unc93b1(3d/3d) (3d) mice. Deguine J, et al. Nat Immunol, 2013 Nov. PMID 24145778, Free PMC Article
    5. Respond to "No antigen-presentation defect in Unc93b1(3d/3d) (3d) mice". Tabeta K, et al. Nat Immunol, 2013 Nov. PMID 24145779

    See all (117) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Large-scale mutational analysis identifies UNC93B1 variants that drive TLR-mediated autoimmunity in mice and humans.
      Title: Large-scale mutational analysis identifies UNC93B1 variants that drive TLR-mediated autoimmunity in mice and humans.
    2. UNC93B1 variants underlie TLR7-dependent autoimmunity.
      Title: UNC93B1 variants underlie TLR7-dependent autoimmunity.
    3. UNC93B1 Is Widely Expressed in the Murine CNS and Is Required for Neuroinflammation and Neuronal Injury Induced by MicroRNA let-7b.
      Title: UNC93B1 Is Widely Expressed in the Murine CNS and Is Required for Neuroinflammation and Neuronal Injury Induced by MicroRNA let-7b.
    4. Whereas TLR9 and TLR3 are released from UNC93B1, TLR7 does not dissociate from UNC93B1 in endosomes and is regulated by distinct mechanisms
      Title: Release from UNC93B1 reinforces the compartmentalized activation of select TLRs.
    5. Binding of syntenin-1 requires phosphorylation of UNC93B1 and provides a mechanism for dynamic regulation of TLR7 activation and signalling
      Title: UNC93B1 recruits syntenin-1 to dampen TLR7 signalling and prevent autoimmunity.
    6. Data show that Unc-93 homolog B1 (UNC93B1) is critical for maintaining Toll-like receptors (TLRs) expression.
      Title: The Chaperone UNC93B1 Regulates Toll-like Receptor Stability Independently of Endosomal TLR Transport.
    7. autoantibody production in systemic mercury-induced autoimmunity was dependent on the endosomal TLR transporter UNC93B1
      Title: Induction of Systemic Autoimmunity by a Xenobiotic Requires Endosomal TLR Trafficking and Signaling from the Late Endosome and Endolysosome but Not Type I IFN.
    8. Autophagy contributes to macrophage resistance to Leishmania major. Data, including data from studies in knockout mice, suggest a key resistance mechanism involves endosomal signaling via Tlr3/7/9 in macrophages; macrophages deficient for Tlr3/7/9, Unc93b1, or MyD88 fail to undergo L. major-induced autophagy. (TLR = Toll-like receptor; Unc93b1 = unc-93 homolog B1; MyD88 = myeloid differentiation primary response gene 88)
      Title: Autophagy downstream of endosomal Toll-like receptor signaling in macrophages is a key mechanism for resistance to Leishmania major infection.
    9. Describe a mechanism for differential sorting of endosomal toll like receptors by UNC93B1.
      Title: UNC93B1 mediates differential trafficking of endosomal TLRs.
    10. These observations establish a significant role for Unc93b1 in the regulation of the host inflammatory response to CVB3 infection and also reveal potential mediators of host tissue damage that merit further investigation in acute viral myocarditis.
      Title: Unc93b1 -Dependent Endosomal Toll-Like Receptor Signaling Regulates Inflammation and Mortality during Coxsackievirus B3 Infection.
    Submit: New GeneRIF Correction See all GeneRIFs (24)

    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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    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables Toll-like receptor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables Toll-like receptor binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables Toll-like receptor binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    acts_upstream_of_or_within T cell antigen processing and presentation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within antigen processing and presentation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within antigen processing and presentation of exogenous peptide antigen via MHC class II IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within cell morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in defense response to virus IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in innate immune response IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in intracellular protein transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in intracellular protein transport IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within positive regulation of interleukin-12 production IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within positive regulation of interleukin-6 production IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in toll-like receptor 3 signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in toll-like receptor 3 signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in toll-like receptor 3 signaling pathway ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in toll-like receptor 7 signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in toll-like receptor 7 signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in toll-like receptor 7 signaling pathway ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in toll-like receptor 9 signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in toll-like receptor 9 signaling pathway IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in toll-like receptor 9 signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in toll-like receptor 9 signaling pathway ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within toll-like receptor signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in early phagosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in endoplasmic reticulum ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in endosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in endosome ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in lysosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in lysosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    protein unc-93 homolog B1
    Names
    unc-93 homolog B

    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_001161428.2 → NP_001154900.2  protein unc-93 homolog B1 isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an exon in the 3' coding region, which results in a frameshift and an early stop codon, compared to variant 1. The encoded isoform (b) is shorter and has a distinct C-terminus, compared to isoform a.
      Source sequence(s)
      AC133523
      Consensus CDS
      CCDS50346.1
      UniProtKB/TrEMBL
      E9Q8P6
      Related
      ENSMUSP00000128751.3, ENSMUST00000165711.3

    2. NM_001403609.1 → NP_001390538.1  protein unc-93 homolog B1 isoform c

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an exon in the 5' coding region, compared to variant 1. The encoded isoform (c) is shorter, compared to isoform a.
      Source sequence(s)
      AC133523

    3. NM_001403610.1 → NP_001390539.1  protein unc-93 homolog B1 isoform d

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) uses an alternate splice site in the 3' coding region, compared to variant 1. The encoded isoform (d) is shorter, compared to isoform a.
      Source sequence(s)
      AC133523

    4. NM_019449.3 → NP_062322.3  protein unc-93 homolog B1 isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest variant and encodes the longest isoform (a).
      Source sequence(s)
      AC133523
      Consensus CDS
      CCDS29404.2
      UniProtKB/Swiss-Prot
      O89077, Q3TNR9, Q710D2, Q8CIK1, Q8R3D0, Q8VCW4
      Related
      ENSMUSP00000124272.3, ENSMUST00000162708.7

    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_000085.7 Reference GRCm39 C57BL/6J

      Range
      3985222..3999340
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8VCW4.2 GenPept UniProtKB/Swiss-Prot:Q8VCW4

    Gene LinkOut

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

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