UNC93B1
Unc-93 Homolog B1, TLR Signaling Regulator
Gene Information Card
| Symbol | UNC93B1 |
|---|---|
| Full Name | Unc-93 Homolog B1 |
| Gene Type | Protein coding |
| Chromosomal Location | 11q13.2 |
| NCBI Gene ID | 81622 ncbi.nlm.nih.gov/gene/81622 |
| Ensembl ID | ENSG00000110057 |
| UniProt ID | Q9H1C4 |
| OMIM ID | 608204 |
| HGNC ID | 12581 |
| Aliases | UNC93, UNC93B, UNC-93B1, FLJ11196 |
Description
UNC93B1 encodes a protein that is a critical component of the endosomal Toll-like receptor (TLR) signaling pathway. It is required for the trafficking of TLR3, TLR7, TLR8, and TLR9 from the endoplasmic reticulum to endosomes, enabling proper innate immune responses to nucleic acid ligands. Mutations in UNC93B1 can lead to impaired TLR signaling and increased susceptibility to viral infections, particularly herpes simplex encephalitis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Herpes simplex encephalitis (HSE) | Loss-of-function mutations impair TLR3-mediated interferon response, increasing vulnerability to HSV-1 infection in the central nervous system. | OMIM #614850; PubMed: 17088264 |
| Systemic lupus erythematosus (SLE) | Gain-of-function variants may enhance TLR7/9 signaling, promoting autoantibody production and inflammation. | PubMed: 23584021 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lymph node | 12.5 | Medium |
| Spleen | 11.8 | Medium |
| Lung | 9.2 | Medium |
| Brain | 6.1 | Low |
| Liver | 4.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.2 | Embryonic kidney cells |
| HeLa | 10.8 | Cervical carcinoma cells |
| K562 | 8.5 | Leukemia cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1034delG (p.Gly345Valfs*2) | Frameshift | Rare | Loss of function; associated with HSE |
| c.781G>A (p.Glu261Lys) | Missense | Rare | Loss of function; impairs TLR3 trafficking |
| c.1673A>G (p.Tyr558Cys) | Missense | Rare | Gain of function; linked to SLE |
Mutation functional classification
Loss of Function (LOF)
Frameshift and missense mutations (e.g., p.Gly345Valfs*2, p.Glu261Lys) disrupt UNC93B1 protein function, leading to defective TLR3/7/8/9 trafficking and impaired interferon responses, increasing susceptibility to herpes simplex encephalitis.
Gain of Function (GOF)
Missense variants (e.g., p.Tyr558Cys) enhance TLR7/9 signaling, potentially contributing to autoimmune diseases like systemic lupus erythematosus.
Dominant Negative (DN)
No dominant-negative mutations have been reported for UNC93B1.
View complete mutation data：
Gene Ontology (GO)
| • endoplasmic reticulum membrane | • endosome membrane |
| • protein binding | • Toll-like receptor signaling pathway |
| • innate immune response | • viral process |
Pathways
• Toll-like receptor signaling pathway (KEGG: hsa04620)
• Endosomal TLR signaling (Reactome: R-HSA-168898)
Protein Summary
UNC93B1 is a 598-amino acid multi-pass transmembrane protein localized to the endoplasmic reticulum and endosomes. It acts as a chaperone for endosomal TLRs, facilitating their exit from the ER and delivery to endolysosomal compartments where they recognize nucleic acids. The protein contains 12 transmembrane domains and is essential for proper innate immune activation against viruses.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| UNC93B1 Knockout HEK293 Cell Line | EDJ-KQ8954 | Human | 81622 | Details Get a Quote |
| UNC93B1 Knockout A-549 Cell Line | EDJ-KQ36561 | Human | 81622 | Details Get a Quote |
| UNC93B1 Knockout HCT 116 Cell Line | EDJ-KQ36563 | Human | 81622 | Details Get a Quote |
| UNC93B1 Knockout HeLa Cell Line | EDJ-KQ36564 | Human | 81622 | Details Get a Quote |
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