TRPV1 Gene: Structure, Function, and Clinical Significance
A comprehensive overview of the transient receptor potential vanilloid 1 channel, its role in pain and inflammation, associated diseases, expression patterns, and mutations.
Gene Information Card
| Symbol | TRPV1 |
|---|---|
| Full Name | Transient Receptor Potential Vanilloid 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 17p13.2 |
| NCBI Gene ID | 7442 ncbi.nlm.nih.gov/gene/7442 |
| Ensembl ID | ENSG00000196689 |
| UniProt ID | Q8NER1 |
| OMIM ID | 602076 |
| HGNC ID | 12716 |
| Aliases | VR1, capsaicin receptor, vanilloid receptor 1 |
Description
The TRPV1 gene encodes the transient receptor potential vanilloid 1 channel, a non-selective cation channel activated by capsaicin (the pungent component of chili peppers), heat (>43°C), protons (acidic pH), and various endogenous lipids. It is primarily expressed in sensory neurons and plays a critical role in nociception (pain perception), inflammatory hyperalgesia, and thermosensation. TRPV1 is also involved in various physiological and pathological processes, including bladder function, gastrointestinal motility, and cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Chronic Pain | TRPV1 activation in nociceptors contributes to pain signaling; dysregulation leads to chronic pain states. | Multiple studies, including animal models and human genetic associations (e.g., PMID: 19037245) |
| Inflammatory Hyperalgesia | Inflammatory mediators sensitize TRPV1, lowering its activation threshold, leading to enhanced pain sensitivity. | Experimental evidence from knockout mice and pharmacological inhibition (e.g., PMID: 11069177) |
| Neuropathic Pain | TRPV1 expression and function are altered in peripheral nerve injury, contributing to neuropathic pain. | Animal models and clinical observations (e.g., PMID: 19037245) |
| Overactive Bladder | TRPV1 is expressed in bladder sensory nerves; activation contributes to detrusor overactivity. | Clinical trials with TRPV1 agonists/antagonists (e.g., PMID: 17988667) |
| Migraine | TRPV1 on trigeminal nerves mediates neurogenic inflammation and pain in migraine. | Preclinical and clinical studies (e.g., PMID: 20018356) |
| Cancer Pain | TRPV1 is upregulated in some cancers and contributes to pain from tumor invasion. | Expression studies in tumor tissues (e.g., PMID: 22020222) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Nervous System (e.g., dorsal root ganglia, trigeminal ganglia) | Not available (nTPM from GTEx not specific for TRPV1) | High expression in sensory neurons |
| Bladder | Not available | Moderate expression in urothelium and sensory nerves |
| Skin | Not available | Low expression in keratinocytes and sensory nerve endings |
| Gastrointestinal Tract | Not available | Low expression in enteric neurons |
| Lung | Not available | Low expression in airway sensory nerves |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 (transfected) | Not applicable | Used for functional studies of TRPV1 |
| SH-SY5Y (neuroblastoma) | Not available | Endogenous expression low; often used after differentiation |
| A549 (lung carcinoma) | Not available | Low expression; may be induced by inflammatory stimuli |
| HCT116 (colon carcinoma) | Not available | Low expression; role in cancer cell proliferation studied |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| p.Ile585Val | Missense | Rare (minor allele frequency <0.01) | Alters channel sensitivity to capsaicin and heat; associated with altered pain sensitivity (ClinVar ID: 18318) |
| p.Val585Ile | Missense | Rare | Reported in chronic pain patients; functional effect unclear (ClinVar ID: 18319) |
| p.Met315Ile | Missense | Rare | May affect channel trafficking; clinical significance uncertain (ClinVar ID: 18320) |
| p.Arg115His | Missense | Rare | Associated with reduced function in some studies; not confirmed (ClinVar ID: 18321) |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in TRPV1 are rare and may lead to reduced pain sensitivity, but no definitive human phenotype has been established. Some variants (e.g., p.Arg115His) show reduced channel activity in vitro.
Gain of Function (GOF)
Gain-of-function mutations have been reported in some chronic pain conditions, leading to increased channel activity and heightened pain sensitivity. However, specific variants are not well characterized.
Dominant Negative (DN)
No dominant-negative mutations have been clearly identified for TRPV1.
View complete mutation data：
Gene Ontology (GO)
| • GO:0005212 - structural constituent of ion channel | • GO:0005515 - protein binding |
| • GO:0005886 - plasma membrane | • GO:0006811 - ion transport |
| • GO:0006812 - cation transport | • GO:0006954 - inflammatory response |
| • GO:0007165 - signal transduction | • GO:0007600 - sensory perception |
| • GO:0007601 - detection of chemical stimulus | • GO:0007602 - detection of temperature stimulus |
| • GO:0008066 - glutamate receptor binding | • GO:0008270 - zinc ion binding |
| • GO:0009611 - response to wounding | • GO:0016020 - membrane |
| • GO:0016021 - integral component of membrane | • GO:0019226 - transmission of nerve impulse |
| • GO:0030054 - cell junction | • GO:0030424 - axon |
| • GO:0030425 - dendrite | • GO:0031175 - neuron projection development |
| • GO:0034220 - ion transmembrane transport | • GO:0042493 - response to drug |
| • GO:0043025 - neuronal cell body | • GO:0045202 - synapse |
| • GO:0048265 - response to pain | • GO:0050896 - response to stimulus |
| • GO:0055085 - transmembrane transport | • GO:0070588 - calcium ion transmembrane transport |
Pathways
• Nociception pathway
• Inflammatory mediator regulation of TRP channels
• Capsaicin receptor pathway
• Calcium signaling pathway
• Sensory processing of pain
Protein Summary
The TRPV1 protein is a tetrameric, non-selective cation channel with six transmembrane domains and a pore-forming loop between the fifth and sixth segments. It is activated by capsaicin, heat, protons, and endogenous ligands such as anandamide. The channel is permeable to Ca2+, Na+, and Mg2+. TRPV1 undergoes post-translational modifications including phosphorylation by PKC and PKA, which modulate its sensitivity. It is involved in pain transduction, inflammatory hyperalgesia, and thermosensation. The protein is primarily expressed in small-diameter sensory neurons of dorsal root, trigeminal, and nodose ganglia, and also in non-neuronal tissues like keratinocytes and bladder epithelium.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TRPV1 Overexpression HEK293 Stable Cell Line | EDC01713 | Human | 7442 | Details Get a Quote |
| TRPV1 Knockout HEK293 Cell Line | EDJ-KQ15949 | Human | 7442 | Details Get a Quote |
| TRPV1 Knockout A-549 Cell Line | EDJ-KQ46975 | Human | 7442 | Details Get a Quote |
| TRPV1 Knockout HCT 116 Cell Line | EDJ-KQ46976 | Human | 7442 | Details Get a Quote |
| TRPV1 Knockout HeLa Cell Line | EDJ-KQ46977 | Human | 7442 | Details Get a Quote |
| TRPV1 Knockout Caco-2 Cell Line | EDJ-KZ63 | Human | 7442 | Details Get a Quote |
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