TLR5 Gene (Toll Like Receptor 5)
Key innate immune sensor for bacterial flagellin, linked to infection susceptibility and autoimmune disease
Gene Information Card
| Symbol | TLR5 |
|---|---|
| Full Name | Toll Like Receptor 5 |
| Gene Type | protein coding |
| Chromosomal Location | 1q41-q42 |
| NCBI Gene ID | 7100 ncbi.nlm.nih.gov/gene/7100 |
| Ensembl ID | ENSG00000187554 |
| UniProt ID | O60602 |
| OMIM ID | 603031 |
| HGNC ID | 11849 |
| Aliases | SLEB1, TIL3 |
Description
The TLR5 gene encodes Toll-like receptor 5, a transmembrane protein of the Toll-like receptor family that recognizes bacterial flagellin. It is expressed on the cell surface of immune and epithelial cells, triggering innate immune responses via NF-kB and MAPK signaling pathways. TLR5 plays a critical role in host defense against flagellated bacteria and has been implicated in various inflammatory and autoimmune conditions.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Systemic lupus erythematosus (SLE) | TLR5 variants (e.g., R392X) reduce flagellin sensing, altering immune regulation and increasing autoimmunity risk. | ClinVar, OMIM |
| Legionnaires' disease | Loss-of-function TLR5 mutations impair recognition of Legionella pneumophila flagellin, increasing susceptibility. | ClinVar, PubMed (via OMIM) |
| Crohn's disease | TLR5 polymorphisms may modulate intestinal inflammatory responses to flagellated microbiota. | ClinVar, OMIM |
| Urinary tract infection | Reduced TLR5 function may impair bladder epithelial response to uropathogenic E. coli. | ClinVar, PubMed (via OMIM) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 5.2 | Low |
| Small intestine | 4.8 | Low |
| Colon | 4.5 | Low |
| Spleen | 3.9 | Low |
| Blood | 2.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| THP-1 (monocyte) | 3.5 | Moderate expression |
| A549 (lung epithelial) | 2.8 | Low expression |
| HeLa (cervical) | 1.2 | Very low |
| MCF7 (breast) | 0.8 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| R392X | Nonsense | ~10% in Caucasian populations | Truncated protein lacking cytoplasmic domain; loss of function, dominant-negative effect |
| F616L | Missense | Rare | Reduced flagellin-induced signaling |
| L616F | Missense | Rare | Impaired receptor trafficking |
| c.1174C>T | Nonsense | ~5% in Asian populations | Premature stop; loss of function |
Mutation functional classification
Loss of Function (LOF)
R392X and other nonsense mutations lead to truncated TLR5 lacking the TIR domain, abolishing signal transduction.
Gain of Function (GOF)
No clear gain-of-function mutations reported; some variants may enhance signaling but evidence is limited.
Dominant Negative (DN)
R392X exerts a dominant-negative effect by heterodimerizing with wild-type TLR5, inhibiting normal signaling.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Toll-like receptor signaling pathway (KEGG: hsa04620)
• NF-kappa B signaling pathway (KEGG: hsa04064)
• Innate Immune System (Reactome: R-HSA-168249)
• MyD88-dependent cascade (Reactome: R-HSA-166058)
Protein Summary
TLR5 is a type I transmembrane glycoprotein composed of an extracellular leucine-rich repeat (LRR) domain that binds flagellin, a transmembrane domain, and a cytoplasmic Toll/interleukin-1 receptor (TIR) domain. Upon flagellin binding, TLR5 recruits the adaptor protein MyD88, initiating a signaling cascade that activates NF-kB and MAP kinases, leading to pro-inflammatory cytokine production. The protein is expressed on the basolateral surface of intestinal epithelial cells and on certain immune cells, playing a sentinel role against invasive flagellated bacteria.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TLR5 Knockout HEK293 Cell Line | EDJ-KQ5938 | Human | 7100 | Details Get a Quote |
| TLR5 Knockout HeLa Cell Line | EDJ-KQ54667 | Human | 7100 | Details Get a Quote |
| TLR5 Knockout A-549 Cell Line | EDJ-KQ63150 | Human | 7100 | Details Get a Quote |
| TLR5 Knockout HCT 116 Cell Line | EDJ-KQ71623 | Human | 7100 | Details Get a Quote |
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