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26 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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TLR1
toll like receptor 1
Chromosome 4 · 4p14
NCBI Gene: 7096Ensembl: ENSG00000174125.10HGNC: HGNC:11847UniProt: Q15399
224PubMed Papers
20Diseases
0Drugs
2Pathogenic Variants
FUNCTIONAL ROLE
Receptor
RESEARCH IMPACT
Trending
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
toll-like receptor TLR1:TLR2 signaling pathwaypositive regulation of toll-like receptor 2 signaling pathwaydetection of triacyl bacterial lipopeptidepositive regulation of interleukin-8 productionasthmaresponse to stimulusallergic rhinitisallergic disease
✦AI Summary

TLR1 is a pattern recognition receptor that functions as a key component of innate immunity by recognizing bacterial lipopeptides. It forms heterodimeric complexes with TLR2 to detect diacylated and triacylated lipopeptides from microbial pathogens 1. Upon ligand engagement, TLR1:TLR2 complexes assemble into an activation cluster with CD14 at the cell surface, which then translocates to the Golgi apparatus via lipid-raft dependent mechanisms 2. This triggers MyD88 and TRAF6-dependent signaling cascades leading to NF-κB activation, inflammatory cytokine production (including IL-6, IL-8, and TNF), and orchestrated innate immune responses 3. TLR1 is located on the plasma membrane where it senses extracellular pathogen-associated molecular patterns 4. Recent evidence demonstrates that TLR1 recognizes non-canonical lipid ligands, such as diacyl phosphatidylethanolamine from Akkermansia muciniphila, which can modulate immune tone at low concentrations 5. Clinically, TLR1 genetic polymorphisms have been associated with gastric cancer susceptibility; carriers of the TLR1 rs4833095 TC genotype demonstrated increased gastric cancer risk in European populations 6. Additionally, TLR1 shows potential causal involvement in breast cancer risk based on Mendelian randomization analyses 7, suggesting roles beyond infection defense.

Sources cited
1
TLR1 cooperates with TLR2 to recognize diacylated and triacylated lipopeptides from bacterial sources
PMID: 21078852
2
TLR1:TLR2:CD14 activation cluster forms at the cell surface and translocates to the Golgi via lipid-raft dependent pathways
PMID: 16880211
3
TLR1 is a plasma membrane receptor recognizing pathogen-associated molecular patterns and activating innate immunity through MyD88-dependent signaling
PMID: 25845562
4
TLR1 is a plasma membrane TLR that recognizes extracellular pathogen components
PMID: 34595581
5
TLR1 recognizes diacyl phosphatidylethanolamine from A. muciniphila and mediates immunomodulatory effects including low-dose immune regulation
PMID: 35896748
6
TLR1 rs4833095 TC genotype is associated with increased gastric cancer risk in European populations
PMID: 30574617
7
TLR1 shows potential causal role in breast cancer risk based on Mendelian randomization analyses
PMID: 37996402
Disease Associationsⓘ20
asthmaOpen Targets
0.60Moderate
response to stimulusOpen Targets
0.55Moderate
allergic rhinitisOpen Targets
0.55Moderate
allergic diseaseOpen Targets
0.53Moderate
childhood onset asthmaOpen Targets
0.50Moderate
respiratory system diseaseOpen Targets
0.49Moderate
rosaceaOpen Targets
0.47Moderate
seasonal allergic rhinitisOpen Targets
0.46Moderate
Eczematoid dermatitisOpen Targets
0.44Moderate
lower respiratory tract diseaseOpen Targets
0.44Moderate
rheumatoid arthritisOpen Targets
0.43Moderate
leprosyOpen Targets
0.40Moderate
breast carcinomaOpen Targets
0.39Weak
inborn error of immunityOpen Targets
0.37Weak
Lyme diseaseOpen Targets
0.37Weak
WheezingOpen Targets
0.36Weak
immune system diseaseOpen Targets
0.36Weak
Abnormal thrombosisOpen Targets
0.35Weak
rhinitisOpen Targets
0.35Weak
Chronic Obstructive AsthmaOpen Targets
0.35Weak
Pathogenic Variants2
NM_003263.4(TLR1):c.2036T>C (p.Ile679Thr)Pathogenic
Rheumatoid arthritis
☆☆☆☆2020→ Residue 679
NM_003263.4(TLR1):c.1324T>C (p.Cys442Arg)Pathogenic
Rheumatoid arthritis
☆☆☆☆2020→ Residue 442
View on ClinVar ↗
Related Genes
SCARB1Protein interaction100%SCARB2Protein interaction100%HSPA9Protein interaction100%CLEC7AProtein interaction100%IL6Protein interaction99%NOD2Protein interaction98%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
39%
Brain
25%
Ovary
22%
Heart
12%
Liver
10%
Gene Interaction Network
Click a node to explore
TLR1SCARB1SCARB2HSPA9CLEC7AIL6NOD2
PROTEIN STRUCTURE
Preparing viewer…
PDB7NUW · 1.90 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.35LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.99 [0.74–1.35]
RankingsWhere TLR1 stands among ~20K protein-coding genes
  • #1,825of 20,598
    Most Researched224 · top 10%
  • #4,235of 5,498
    Most Pathogenic Variants2
  • #14,101of 17,882
    Most Constrained (LOEUF)1.35
Genes detectedTLR1
Sources retrieved26 papers
Response time—
📄 Sources
26â–¼
1
Akkermansia muciniphila phospholipid induces homeostatic immune responses.
PMID: 35896748
Nature · 2022
1.00
2
Evaluation of circulating plasma proteins in breast cancer using Mendelian randomisation.
PMID: 37996402
Nat Commun · 2023
0.90
3
Toll-like receptors.
PMID: 25845562
Curr Protoc Immunol · 2015
0.80
4
Toll-Like Receptors in Adaptive Immunity.
PMID: 34510306
Handb Exp Pharmacol · 2022
0.72
5
TLR10 and Its Role in Immunity.
PMID: 34595581
Handb Exp Pharmacol · 2022
0.70