UNC93B1 unc-93 homolog B1, TLR signaling regulator [Homo sapiens (human)] - Gene

Summary

Official Symbol: UNC93B1provided by HGNC
Official Full Name: unc-93 homolog B1, TLR signaling regulatorprovided by HGNC
Primary source: HGNC:HGNC:13481
See related: Ensembl:ENSG00000110057 MIM:608204; AllianceGenome:HGNC:13481
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: IIAE1; UNC93; UNC93B; Unc-93B1
Summary: This gene encodes a protein that is involved in innate and adaptive immune response by regulating toll-like receptor signaling. The encoded protein traffics nucleotide sensing toll-like receptors to the endolysosome from the endoplasmic reticulum. Deficiency of the encoded protein has been associated with herpes simplex encephalitis. [provided by RefSeq, Feb 2014]
Expression: Broad expression in spleen (RPKM 27.3), lung (RPKM 14.0) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 11q13.2

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (67991100..68004097, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (67994743..68007749, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (67758571..67771567, complement)

Chromosome 11 - NC_000011.10 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: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

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.
Gain-of-function human UNC93B1 variants cause systemic lupus erythematosus and chilblain lupus.
Title: Gain-of-function human UNC93B1 variants cause systemic lupus erythematosus and chilblain lupus.
Genetic variants in UNC93B1 predispose to childhood-onset systemic lupus erythematosus.
Title: Genetic variants in UNC93B1 predispose to childhood-onset systemic lupus erythematosus.
UNC93B1 variants underlie TLR7-dependent autoimmunity.
Title: UNC93B1 variants underlie TLR7-dependent autoimmunity.
UNC93B1 attenuates the cGAS-STING signaling pathway by targeting STING for autophagy-lysosome degradation.
Title: UNC93B1 attenuates the cGAS-STING signaling pathway by targeting STING for autophagy-lysosome degradation.
Dynamic control of nucleic-acid-sensing Toll-like receptors by the endosomal compartment.
Title: Dynamic control of nucleic-acid-sensing Toll-like receptors by the endosomal compartment.
Variants Affecting the C-Terminal Tail of UNC93B1 Are Not a Common Risk Factor for Systemic Lupus Erythematosus.
Title: Variants Affecting the C-Terminal Tail of UNC93B1 Are Not a Common Risk Factor for Systemic Lupus Erythematosus.
Donor UNC-93 Homolog B1 genetic polymorphism predicts survival outcomes after unrelated bone marrow transplantation.
Title: Donor UNC-93 Homolog B1 genetic polymorphism predicts survival outcomes after unrelated bone marrow transplantation.
UNC93B1 curbs cytosolic DNA signaling by promoting STING degradation.
Title: UNC93B1 curbs cytosolic DNA signaling by promoting STING degradation.
Cryo-EM structures of Toll-like receptors in complex with UNC93B1.
Title: Cryo-EM structures of Toll-like receptors in complex with UNC93B1.

Submit: New GeneRIF Correction See all GeneRIFs (27)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Herpes simplex encephalitis, susceptibility to, 1 MedGen: C2750180 OMIM: 610551 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

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 protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in T cell antigen processing and presentation	IEA Inferred from Electronic Annotation more info
involved_in antigen processing and presentation of exogenous peptide antigen via MHC class II	IEA Inferred from Electronic Annotation more info
involved_in cell morphogenesis	IEA Inferred from Electronic Annotation more info
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	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of interleukin-12 production	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of interleukin-6 production	IEA Inferred from Electronic Annotation more info
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 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 9 signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in toll-like receptor 9 signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in toll-like receptor 9 signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in toll-like receptor signaling pathway	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in Golgi membrane	TAS Traceable Author Statement more info
located_in early phagosome	ISS Inferred from Sequence or Structural Similarity more info
located_in endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum membrane	TAS Traceable Author Statement 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	ISS Inferred from Sequence or Structural Similarity more info
is_active_in lysosome	IBA Inferred from Biological aspect of Ancestor more info
located_in lysosome	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: protein unc-93 homolog B1

Names: unc-93 related protein; unc93 homolog B1

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.