Human Gene TRPV1 (ENST00000572705.2) from GENCODE V44
  Description: Homo sapiens transient receptor potential cation channel subfamily V member 1 (TRPV1), transcript variant 1, mRNA. (from RefSeq NM_080704)
RefSeq Summary (NM_080704): Capsaicin, the main pungent ingredient in hot chili peppers, elicits a sensation of burning pain by selectively activating sensory neurons that convey information about noxious stimuli to the central nervous system. The protein encoded by this gene is a receptor for capsaicin and is a non-selective cation channel that is structurally related to members of the TRP family of ion channels. This receptor is also activated by increases in temperature in the noxious range, suggesting that it functions as a transducer of painful thermal stimuli in vivo. Four transcript variants encoding the same protein, but with different 5' UTR sequence, have been described for this gene. [provided by RefSeq, Jul 2008].
Gencode Transcript: ENST00000572705.2
Gencode Gene: ENSG00000196689.13
Transcript (Including UTRs)
   Position: hg38 chr17:3,565,446-3,609,411 Size: 43,966 Total Exon Count: 17 Strand: -
Coding Region
   Position: hg38 chr17:3,566,815-3,592,350 Size: 25,536 Coding Exon Count: 15 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr17:3,565,446-3,609,411)mRNA (may differ from genome)Protein (839 aa)
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-  Comments and Description Text from UniProtKB
  ID: TRPV1_HUMAN
DESCRIPTION: RecName: Full=Transient receptor potential cation channel subfamily V member 1; Short=TrpV1; AltName: Full=Capsaicin receptor; AltName: Full=Osm-9-like TRP channel 1; Short=OTRPC1; AltName: Full=Vanilloid receptor 1;
FUNCTION: Receptor-activated non-selective calcium permeant cation channel involved in detection of noxious chemical and thermal stimuli. Seems to mediate proton influx and may be involved in intracellular acidosis in nociceptive neurons. May be involved in mediation of inflammatory pain and hyperalgesia. Sensitized by a phosphatidylinositol second messenger system activated by receptor tyrosine kinases, which involves PKC isozymes and PCL. Acts as ionotropic endocannabinoid receptor with central neuromodulatory effects. Triggers a form of long-term depression (TRPV1-LTD) mediated by the endocannabinoid anandamine in the hippocampus and nucleus accumbens by affecting AMPA receptors endocytosis (By similarity).
ENZYME REGULATION: Channel activity is activated via the interaction with PIRT and phosphatidylinositol 4,5-bisphosphate (PIP2). Both PIRT and PIP2 are required to activate channel activity (By similarity).
SUBUNIT: Self-associates. Probably homotetramer. May also form a heteromeric channel with TRPV3. Interacts with calmodulin, PIRT, PRKCM and CSK. Interacts with PRKCG and NTRK1, probably by forming a trimeric complex (By similarity).
SUBCELLULAR LOCATION: Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein (By similarity). Cell projection, dendritic spine membrane; Multi-pass membrane protein (By similarity).
TISSUE SPECIFICITY: Widely expressed at low levels. Expression is elevated in dorsal root ganglia. In skin, expressed in cutaneous sensory nerve fibers, mast cells, epidermal keratinocytes, dermal blood vessels, the inner root sheet and the infundibulum of hair follicles, differentiated sebocytes, sweat gland ducts, and the secretory portion of eccrine sweat glands (at protein level).
DOMAIN: The association domain (AD) is necessary for self- association (By similarity).
PTM: Phosphorylation by PKA reverses capsaicin-induced dephosphorylation at multiple sites, probably including Ser-117 as a major phosphorylation site. Phoshphorylation by CAMKII seems to regulate binding to vanilloids. Phosphorylated and modulated by PRKCE, PRKCM and probably PRKCZ. Dephosphorylation by calcineurin seems to lead to receptor desensitization and phosphorylation by CAMKII recovers activity (By similarity).
MISCELLANEOUS: Responses evoked by low pH and heat, and capsaicin can be antagonized by capsazepine.
SIMILARITY: Belongs to the transient receptor (TC 1.A.4) family. TrpV subfamily. TRPV1 sub-subfamily.
SIMILARITY: Contains 6 ANK repeats.
SEQUENCE CAUTION: Sequence=AAG43467.1; Type=Frameshift; Positions=498;

-  Primer design for this transcript
 

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-  MalaCards Disease Associations
  MalaCards Gene Search: TRPV1
Diseases sorted by gene-association score: irritable bowel syndrome (32), bladder disease (31), somatoform disorder (29), interstitial cystitis (29), burning mouth syndrome (29), dyspepsia (29), cystitis (29), bone cancer (28), gastrointestinal system disease (26), pulpitis (25), pain agnosia (25), agnosia (25), diabetic neuropathy (25), specific developmental disorder (24), disease of mental health (23), bone inflammation disease (21), functional gastric disease (21), nasal cavity disease (21), pain disorder (21), nose disease (21), dental pulp disease (20), dentin sensitivity (20), diverticulitis of colon (19), physical urticaria (19), sciatic neuropathy (19), trigeminal nerve disease (18), lesion of sciatic nerve (18), mononeuritis of lower limb (18), silent myocardial infarction (18), herpes zoster (18), peripheral nervous system disease (16), respiratory system disease (16), acquired metabolic disease (15), hypersensitivity reaction disease (14), glucose metabolism disease (14), aspiration pneumonia (14), upper respiratory tract disease (14), connective tissue cancer (14), pancreas disease (14), lacrimal apparatus disease (13), achromatopsia 3 (13), cardiovascular organ benign neoplasm (13), benign perivascular tumor (13), intestinal disease (13), cutaneous porphyria (13), bronchial disease (13), ureterolithiasis (13), sick building syndrome (12), immune system disease (11), speech and communication disorders (11), esophageal disease (11), cystinosis (11), glomangioma (11), achromatopsia 2 (10), hypotrichosis 1 (10), gastroesophageal reflux (10), polycystic kidney disease 3 (9), trigeminal neuralgia (9), female reproductive system disease (9), adenoid hypertrophy (8), opioid abuse (8), cough variant asthma (8), paroxysmal extreme pain disorder (8), autoimmune encephalitis (8), nervous system benign neoplasm (8), stomach disease (8), reproductive system disease (7), chronic rhinitis (7), nervous system disease (7), migraine with or without aura 1 (7), neuroma (7), toxic encephalopathy (7), morphine dependence (7), overnutrition (7), urinary system disease (6), insensitivity to pain, congenital (6), neurogenic bladder (6), rosacea (6), familial hemiplegic migraine (6), central nervous system disease (5), polycystic liver disease (5), bone resorption disease (5), polycystic kidney disease 2 (5), mouth disease (4), asthma (4), opiate dependence (4), syndromic x-linked intellectual disability (4), bone remodeling disease (4), hair disease (4), rhinitis (4), ischemia (3), allergic hypersensitivity disease (2), cranial nerve disease (1), focal epilepsy (1), male reproductive organ cancer (1), cell type cancer (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 0.61 RPKM in Artery - Tibial
Total median expression: 5.94 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -81.40275-0.296 Picture PostScript Text
3' UTR -454.301369-0.332 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR002110 - Ankyrin_rpt
IPR020683 - Ankyrin_rpt-contain_dom
IPR004729 - TRP_channel
IPR008347 - TRPV1-4_channel
IPR024863 - TRPV1_channel
IPR024862 - TRPV_channel

Pfam Domains:
PF00023 - Ankyrin repeat

ModBase Predicted Comparative 3D Structure on Q8NER1
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0004888 transmembrane signaling receptor activity
GO:0005216 ion channel activity
GO:0005230 extracellular ligand-gated ion channel activity
GO:0005231 excitatory extracellular ligand-gated ion channel activity
GO:0005261 cation channel activity
GO:0005262 calcium channel activity
GO:0005516 calmodulin binding
GO:0005524 ATP binding
GO:0008324 cation transmembrane transporter activity
GO:0015276 ligand-gated ion channel activity
GO:0015278 calcium-release channel activity
GO:0017081 chloride channel regulator activity
GO:0035091 phosphatidylinositol binding
GO:0042802 identical protein binding
GO:0046872 metal ion binding
GO:0051219 phosphoprotein binding
GO:0097603 temperature-gated ion channel activity

Biological Process:
GO:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0001659 temperature homeostasis
GO:0001660 fever generation
GO:0001774 microglial cell activation
GO:0002024 diet induced thermogenesis
GO:0002790 peptide secretion
GO:0006629 lipid metabolic process
GO:0006811 ion transport
GO:0006816 calcium ion transport
GO:0006954 inflammatory response
GO:0007166 cell surface receptor signaling pathway
GO:0007204 positive regulation of cytosolic calcium ion concentration
GO:0007635 chemosensory behavior
GO:0009268 response to pH
GO:0009408 response to heat
GO:0010243 response to organonitrogen compound
GO:0014047 glutamate secretion
GO:0014832 urinary bladder smooth muscle contraction
GO:0019233 sensory perception of pain
GO:0034220 ion transmembrane transport
GO:0034605 cellular response to heat
GO:0043065 positive regulation of apoptotic process
GO:0043434 response to peptide hormone
GO:0045429 positive regulation of nitric oxide biosynthetic process
GO:0048265 response to pain
GO:0048266 behavioral response to pain
GO:0050954 sensory perception of mechanical stimulus
GO:0050955 thermoception
GO:0050960 detection of temperature stimulus involved in thermoception
GO:0050965 detection of temperature stimulus involved in sensory perception of pain
GO:0050968 detection of chemical stimulus involved in sensory perception of pain
GO:0051209 release of sequestered calcium ion into cytosol
GO:0051289 protein homotetramerization
GO:0055085 transmembrane transport
GO:0060079 excitatory postsynaptic potential
GO:0060083 smooth muscle contraction involved in micturition
GO:0060454 positive regulation of gastric acid secretion
GO:0070588 calcium ion transmembrane transport
GO:0071312 cellular response to alkaloid
GO:0071318 cellular response to ATP
GO:0071345 cellular response to cytokine stimulus
GO:0071356 cellular response to tumor necrosis factor
GO:0071363 cellular response to growth factor stimulus
GO:0071468 cellular response to acidic pH
GO:0071502 cellular response to temperature stimulus
GO:0090212 negative regulation of establishment of blood-brain barrier
GO:0098703 calcium ion import across plasma membrane
GO:1901594 response to capsazepine
GO:1990090 cellular response to nerve growth factor stimulus

Cellular Component:
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0009897 external side of plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0030054 cell junction
GO:0030425 dendrite
GO:0031226 intrinsic component of plasma membrane
GO:0032591 dendritic spine membrane
GO:0042995 cell projection
GO:0043005 neuron projection
GO:0043025 neuronal cell body
GO:0045202 synapse
GO:0045211 postsynaptic membrane


-  Descriptions from all associated GenBank mRNAs
  AF196175 - Homo sapiens capsaicin receptor mRNA, complete cds.
AL136801 - Homo sapiens mRNA; cDNA DKFZp434K0220 (from clone DKFZp434K0220).
AF196176 - Homo sapiens capsaicin receptor variant mRNA, complete cds.
JD363402 - Sequence 344426 from Patent EP1572962.
JD502018 - Sequence 483042 from Patent EP1572962.
JD363065 - Sequence 344089 from Patent EP1572962.
JD535314 - Sequence 516338 from Patent EP1572962.
JD480637 - Sequence 461661 from Patent EP1572962.
JD544278 - Sequence 525302 from Patent EP1572962.
JD544453 - Sequence 525477 from Patent EP1572962.
JD075829 - Sequence 56853 from Patent EP1572962.
JD403952 - Sequence 384976 from Patent EP1572962.
BC132820 - Homo sapiens transient receptor potential cation channel, subfamily V, member 1, mRNA (cDNA clone MGC:164451 IMAGE:40146842), complete cds.
BC136633 - Homo sapiens transient receptor potential cation channel, subfamily V, member 1, mRNA (cDNA clone MGC:168246 IMAGE:9020623), complete cds.
JD303414 - Sequence 284438 from Patent EP1572962.
JD490749 - Sequence 471773 from Patent EP1572962.
JD356700 - Sequence 337724 from Patent EP1572962.
JD346633 - Sequence 327657 from Patent EP1572962.
JD285580 - Sequence 266604 from Patent EP1572962.
JD506178 - Sequence 487202 from Patent EP1572962.
JD080219 - Sequence 61243 from Patent EP1572962.
JD336406 - Sequence 317430 from Patent EP1572962.
JD312152 - Sequence 293176 from Patent EP1572962.
AJ272063 - Homo sapiens mRNA for vanilloid receptor 1 (VR1 gene).
JD505184 - Sequence 486208 from Patent EP1572962.
JD450622 - Sequence 431646 from Patent EP1572962.
JD357842 - Sequence 338866 from Patent EP1572962.
JD183540 - Sequence 164564 from Patent EP1572962.
JD158430 - Sequence 139454 from Patent EP1572962.
JD416717 - Sequence 397741 from Patent EP1572962.
JD464491 - Sequence 445515 from Patent EP1572962.
JD478870 - Sequence 459894 from Patent EP1572962.
JD543468 - Sequence 524492 from Patent EP1572962.
JD300917 - Sequence 281941 from Patent EP1572962.
JD359582 - Sequence 340606 from Patent EP1572962.
JD274572 - Sequence 255596 from Patent EP1572962.
JD326106 - Sequence 307130 from Patent EP1572962.
JD172405 - Sequence 153429 from Patent EP1572962.
JD300597 - Sequence 281621 from Patent EP1572962.
JD265839 - Sequence 246863 from Patent EP1572962.
JD228698 - Sequence 209722 from Patent EP1572962.
JD492766 - Sequence 473790 from Patent EP1572962.
JD058547 - Sequence 39571 from Patent EP1572962.
JD094367 - Sequence 75391 from Patent EP1572962.
JD105760 - Sequence 86784 from Patent EP1572962.
AJ277028 - Homo sapiens mRNA for vanilloid receptor 1 (VR1 gene).
JD546683 - Sequence 527707 from Patent EP1572962.
JD039645 - Sequence 20669 from Patent EP1572962.
JD339550 - Sequence 320574 from Patent EP1572962.
DQ177332 - Homo sapiens transient receptor potential vanilloid 1a (TRPV1) mRNA, complete cds, alternatively spliced.
DQ177333 - Homo sapiens transient receptor potential vanilloid 1b (TRPV1) mRNA, complete cds, alternatively spliced.
AY131289 - Homo sapiens vanilloid receptor 1 (TRPV1) mRNA, complete cds.
AY986821 - Homo sapiens vanilloid receptor variant TRPV1b (TRPV1) mRNA, complete cds, alternatively spliced.
DQ898279 - Homo sapiens transient receptor potential cation channel subfamily V member 1 transcript variant A (TRPV1) mRNA, complete cds.
AB385217 - Synthetic construct DNA, clone: pF1KB9458, Homo sapiens TRPV1 gene for transient receptor potential cation channel subfamily V member 1, complete cds, without stop codon, in Flexi system.
AM393687 - Synthetic construct Homo sapiens clone IMAGE:100001896 for hypothetical protein (TRPV1 gene).
AF235160 - Homo sapiens vanilloid receptor subtype 1 mRNA, partial cds.
DQ583605 - Homo sapiens piRNA piR-50717, complete sequence.
JD382926 - Sequence 363950 from Patent EP1572962.
JD277956 - Sequence 258980 from Patent EP1572962.
AF163573 - Homo sapiens CARKL (CARKL) mRNA, complete cds.
AK057040 - Homo sapiens cDNA FLJ32478 fis, clone SKNMC2000877, moderately similar to Homo sapiens CARKL mRNA.
AK055609 - Homo sapiens cDNA FLJ31047 fis, clone HSYRA2000424, highly similar to Carbohydrate kinase-like protein (EC 2.7.1.-).
BC020543 - Homo sapiens sedoheptulokinase, mRNA (cDNA clone MGC:21179 IMAGE:4413491), complete cds.
BC111366 - Homo sapiens cDNA clone IMAGE:7503396.
AK057020 - Homo sapiens cDNA FLJ32458 fis, clone SKNMC1000029.
AL832420 - Homo sapiens mRNA; cDNA DKFZp762D092 (from clone DKFZp762D092).

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q8NER1 (Reactome details) participates in the following event(s):

R-HSA-3295579 TRPs transport extracellular Ca2+ to cytosol
R-HSA-3295583 TRP channels
R-HSA-2672351 Stimuli-sensing channels
R-HSA-983712 Ion channel transport
R-HSA-382551 Transport of small molecules

-  Other Names for This Gene
  Alternate Gene Symbols: A2RUA9, ENST00000572705.1, NM_080704, Q8NER1, Q9H0G9, Q9H303, Q9H304, Q9NQ74, Q9NY22, TRPV1_HUMAN, uc010vru.1, uc010vru.2, uc010vru.3, uc010vru.4, VR1
UCSC ID: ENST00000572705.2
RefSeq Accession: NM_080704
Protein: Q8NER1 (aka TRPV1_HUMAN)

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.