TRPV3

Protein identityUniProt · HPA

UniProt accession

Q8NET8

Gene

TRPV3

Ensembl

ENSG00000167723

Chromosome

17

Canonical length

790 aa

Protein class

Disease related genes, FDA approved drug targets, Human disease related genes, Predicted membrane proteins, Transporters

Subcellular location

Plasma membrane,Centrosome,Cytosol

Quaternary structure

Homopentamer

OverviewNCBI Gene

This gene product belongs to a family of nonselective cation channels that function in a variety of processes, including temperature sensation and vasoregulation. The thermosensitive members of this family are expressed in subsets of sensory neurons that terminate in the skin, and are activated at distinct physiological temperatures. This channel is activated at temperatures between 22 and 40 degrees C. This gene lies in close proximity to another family member gene on chromosome 17, and the two encoded proteins are thought to associate with each other to form heteromeric channels. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]

Canonical amino-acid sequenceUniProt

790 residues, UniProt reviewed canonical sequence.

>Q8NET8|TRPV3
     1  MKAHPKEMVP LMGKRVAAPS GNPAILPEKR PAEITPTKKS AHFFLEIEGF EPNPTVAKTS
    61  PPVFSKPMDS NIRQCISGNC DDMDSPQSPQ DDVTETPSNP NSPSAQLAKE EQRRKKRRLK
   121  KRIFAAVSEG CVEELVELLV ELQELCRRRH DEDVPDFLMH KLTASDTGKT CLMKALLNIN
   181  PNTKEIVRIL LAFAEENDIL GRFINAEYTE EAYEGQTALN IAIERRQGDI AALLIAAGAD
   241  VNAHAKGAFF NPKYQHEGFY FGETPLALAA CTNQPEIVQL LMEHEQTDIT SRDSRGNNIL
   301  HALVTVAEDF KTQNDFVKRM YDMILLRSGN WELETTRNND GLTPLQLAAK MGKAEILKYI
   361  LSREIKEKRL RSLSRKFTDW AYGPVSSSLY DLTNVDTTTD NSVLEITVYN TNIDNRHEML
   421  TLEPLHTLLH MKWKKFAKHM FFLSFCFYFF YNITLTLVSY YRPREEEAIP HPLALTHKMG
   481  WLQLLGRMFV LIWAMCISVK EGIAIFLLRP SDLQSILSDA WFHFVFFIQA VLVILSVFLY
   541  LFAYKEYLAC LVLAMALGWA NMLYYTRGFQ SMGMYSVMIQ KVILHDVLKF LFVYIVFLLG
   601  FGVALASLIE KCPKDNKDCS SYGSFSDAVL ELFKLTIGLG DLNIQQNSKY PILFLFLLIT
   661  YVILTFVLLL NMLIALMGET VENVSKESER IWRLQRARTI LEFEKMLPEW LRSRFRMGEL
   721  CKVAEDDFRL CLRINEVKWT EWKTHVSFLN EDPGPVRRTD FNKIQDSSRN NSKTTLNAFE
   781  EVEEFPETSV

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against TRPV3 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Cell surface

Secreted

No

Transmembrane segments

6

Mean surface accessibility (rSASA)

0.35

Highest tissue expression

5 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about TRPV3.

Disease | AllUniProt

Conditions TRPV3 is implicated in, by any mechanism.

• Olmsted syndrome 1 (OLMS1) MIM:614594
• Palmoplantar keratoderma, non-epidermolytic, focal 2 (FNEPPK2) MIM:616400

Disease | GeneticClinVar

10 pathogenic / likely-pathogenic of 487 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Olmsted syndrome 1
• Isolated focal non-epidermolytic palmoplantar keratoderma

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1.15

gnomAD pLI

0

gnomAD missense Z

0.17

DepMap mean gene effect

0.13

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• actin filament organization
• calcium ion import across plasma membrane
• calcium ion transmembrane transport
• osmosensory signaling pathway
• positive regulation of calcium ion import
• response to temperature stimulus
• negative regulation of hair cycle

Molecular functions

• calcium channel activity
• identical protein binding
• metal ion binding
• sodium channel activity

Cellular components

• cilium
• cytoplasm
• lysosome
• plasma membrane
• receptor complex

Protein domainsUniProt · Pfam · InterPro

• Ankyrin repeat
• Ion transport domain
• Transient receptor potential cation channel subfamily V member 1-4
• Transient receptor potential cation channel subfamily V
• Ankyrin repeat-containing domain superfamily
• Ankyrin repeat
• Ion transport protein
• Ankyrin repeats (3 copies)

KeywordsUniProt

• ANK repeat
• Calcium
• Calcium channel
• Calcium transport
• Cell membrane
• Cytoplasm
• Ion channel
• Ion transport
• Lysosome
• Membrane
• Metal-binding
• Palmoplantar keratoderma
• Repeat
• Sodium
• Transmembrane
• Transmembrane helix
• Transport

InteractionsUniProt · HPA

Protein binding partners of TRPV3 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• SNX11
• TRPV1