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

Summary

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

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_000085.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
UNC93B1 variants underlie TLR7-dependent autoimmunity.
Title: UNC93B1 variants underlie TLR7-dependent autoimmunity.
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.
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.
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.
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.
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.
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.
Describe a mechanism for differential sorting of endosomal toll like receptors by UNC93B1.
Title: UNC93B1 mediates differential trafficking of endosomal TLRs.
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)

Chemically induced (ENU) (2) 1 citation
Endonuclease-mediated (6) 1 citation
Targeted (3) 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 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)

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
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
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
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