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Q8NET8 (TRPV3_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 95. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Transient receptor potential cation channel subfamily V member 3

Short name=TrpV3
Alternative name(s):
Vanilloid receptor-like 3
Short name=VRL-3
Gene names
Name:TRPV3
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length790 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Putative receptor-activated non-selective calcium permeant cation channel. It is activated by innocuous (warm) temperatures and shows an increased response at noxious temperatures greater than 39 degrees Celsius. Activation exhibits an outward rectification. May associate with TRPV1 and may modulate its activity. Is a negative regulator of hair growth and cycling: TRPV3-coupled signaling suppresses keratinocyte proliferation in hair follicles and induces apoptosis and premature hair follicle regression (catagen). Ref.1 Ref.2 Ref.4

Subunit structure

May form a heteromeric channel with TRPV1. Interacts with TRPV1. Ref.1

Subcellular location

Membrane; Multi-pass membrane protein.

Tissue specificity

Abundantly expressed in CNS. Widely expressed at low levels. Detected in dorsal root ganglion (at protein level). Expressed in the keratinocyte layers of the outer root sheath and, to lesser extent, to the matrix of the hair follicles (at protein level). Ref.1 Ref.2 Ref.4

Involvement in disease

Olmsted syndrome (OLMS) [MIM:614594]: A rare congenital disorder characterized by bilateral mutilating palmoplantar keratoderma and periorificial keratotic plaques with severe itching at all lesions. Diffuse alopecia, constriction of digits, and onychodystrophy have also been reported. Infections and squamous cell carcinomas can arise on the keratotic areas. The digital constriction may progress to autoamputation of fingers and toes.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.5 Ref.6

Sequence similarities

Belongs to the transient receptor (TC 1.A.4) family. TrpV subfamily. TRPV3 sub-subfamily. [View classification]

Contains 3 ANK repeats.

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q8NET8-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
Isoform 2 (identifier: Q8NET8-2)

Also known as: A;

The sequence of this isoform differs from the canonical sequence as follows:
     759-759: T → TA
Isoform 3 (identifier: Q8NET8-3)

Also known as: B;

The sequence of this isoform differs from the canonical sequence as follows:
     760-765: DFNKIQ → GTVAVR
     766-790: Missing.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 790790Transient receptor potential cation channel subfamily V member 3
PRO_0000215345

Regions

Topological domain1 – 439439Cytoplasmic Potential
Transmembrane440 – 46021Helical; Potential
Topological domain461 – 48727Extracellular Potential
Transmembrane488 – 50821Helical; Potential
Topological domain509 – 52315Cytoplasmic Potential
Transmembrane524 – 54421Helical; Potential
Topological domain5451Extracellular Potential
Transmembrane546 – 56621Helical; Potential
Topological domain567 – 58923Cytoplasmic Potential
Transmembrane590 – 61021Helical; Potential
Intramembrane621 – 63717Pore-forming; Potential
Transmembrane650 – 67021Helical; Potential
Topological domain671 – 790120Cytoplasmic Potential
Repeat214 – 24330ANK 1
Repeat261 – 29131ANK 2
Repeat340 – 36930ANK 3

Natural variations

Alternative sequence7591T → TA in isoform 2.
VSP_013433
Alternative sequence760 – 7656DFNKIQ → GTVAVR in isoform 3.
VSP_013434
Alternative sequence766 – 79025Missing in isoform 3.
VSP_013435
Natural variant251I → V. Ref.1
Corresponds to variant rs322965 [ dbSNP | Ensembl ].
VAR_052388
Natural variant1171R → G. Ref.1
Corresponds to variant rs322937 [ dbSNP | Ensembl ].
VAR_052389
Natural variant5731G → C in OLMS; gain of function mutation; results in constitutive channel activation. Ref.5
Corresponds to variant rs199473704 [ dbSNP | Ensembl ].
VAR_067920
Natural variant5731G → S in OLMS; gain of function mutation; results in constitutive channel activation. Ref.5 Ref.6
Corresponds to variant rs199473704 [ dbSNP | Ensembl ].
VAR_067921
Natural variant6921W → G in OLMS; gain of function mutation; results in constitutive channel activation. Ref.5
Corresponds to variant rs199473705 [ dbSNP | Ensembl ].
VAR_067922
Natural variant7741T → I.
Corresponds to variant rs7212634 [ dbSNP | Ensembl ].
VAR_052390

Experimental info

Sequence conflict2831E → G in AAM80558. Ref.3
Sequence conflict2831E → G in AAM80559. Ref.3

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified April 26, 2005. Version 2.
Checksum: 31EB9973C015B611

FASTA79090,636
        10         20         30         40         50         60 
MKAHPKEMVP LMGKRVAAPS GNPAILPEKR PAEITPTKKS AHFFLEIEGF EPNPTVAKTS 

        70         80         90        100        110        120 
PPVFSKPMDS NIRQCISGNC DDMDSPQSPQ DDVTETPSNP NSPSAQLAKE EQRRKKRRLK 

       130        140        150        160        170        180 
KRIFAAVSEG CVEELVELLV ELQELCRRRH DEDVPDFLMH KLTASDTGKT CLMKALLNIN 

       190        200        210        220        230        240 
PNTKEIVRIL LAFAEENDIL GRFINAEYTE EAYEGQTALN IAIERRQGDI AALLIAAGAD 

       250        260        270        280        290        300 
VNAHAKGAFF NPKYQHEGFY FGETPLALAA CTNQPEIVQL LMEHEQTDIT SRDSRGNNIL 

       310        320        330        340        350        360 
HALVTVAEDF KTQNDFVKRM YDMILLRSGN WELETTRNND GLTPLQLAAK MGKAEILKYI 

       370        380        390        400        410        420 
LSREIKEKRL RSLSRKFTDW AYGPVSSSLY DLTNVDTTTD NSVLEITVYN TNIDNRHEML 

       430        440        450        460        470        480 
TLEPLHTLLH MKWKKFAKHM FFLSFCFYFF YNITLTLVSY YRPREEEAIP HPLALTHKMG 

       490        500        510        520        530        540 
WLQLLGRMFV LIWAMCISVK EGIAIFLLRP SDLQSILSDA WFHFVFFIQA VLVILSVFLY 

       550        560        570        580        590        600 
LFAYKEYLAC LVLAMALGWA NMLYYTRGFQ SMGMYSVMIQ KVILHDVLKF LFVYIVFLLG 

       610        620        630        640        650        660 
FGVALASLIE KCPKDNKDCS SYGSFSDAVL ELFKLTIGLG DLNIQQNSKY PILFLFLLIT 

       670        680        690        700        710        720 
YVILTFVLLL NMLIALMGET VENVSKESER IWRLQRARTI LEFEKMLPEW LRSRFRMGEL 

       730        740        750        760        770        780 
CKVAEDDFRL CLRINEVKWT EWKTHVSFLN EDPGPVRRTD FNKIQDSSRN NSKTTLNAFE 

       790 
EVEEFPETSV 

« Hide

Isoform 2 (A) [UniParc].

Checksum: 264D20FFF12791C4
Show »

FASTA79190,707
Isoform 3 (B) [UniParc].

Checksum: 710D3545A7107B73
Show »

FASTA76587,661

References

[1]"TRPV3 is a temperature-sensitive vanilloid receptor-like protein."
Smith G.D., Gunthorpe M.J., Kelsell R.E., Hayes P.D., Reilly P., Facer P., Wright J.E., Jerman J.C., Walhin J.-P., Ooi L., Egerton J., Charles K.J., Smart D., Randall A.D., Anand P., Davis J.B.
Nature 418:186-190(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, TISSUE SPECIFICITY, INTERACTION WITH TRPV1, VARIANTS VAL-25 AND GLY-117.
[2]"TRPV3 is a calcium-permeable temperature-sensitive cation channel."
Xu H., Ramsey I.S., Kotecha S.A., Moran M.M., Chong J.A., Lawson D., Ge P., Lilly J., Silos-Santiago I., Xie Y., DiStefano P.S., Curtis R., Clapham D.E.
Nature 418:181-186(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, TISSUE SPECIFICITY.
[3]"Human TRPV3, a new member of the vanilloid receptor family."
Poea-Guyon S., Renard S., Chalon P., Kaghad M., Caput D., Besnard F.
Submitted (JUN-2002) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 2 AND 3).
[4]"Activation of transient receptor potential vanilloid-3 inhibits human hair growth."
Borbiro I., Lisztes E., Toth B.I., Czifra G., Olah A., Szollosi A.G., Szentandrassy N., Nanasi P.P., Peter Z., Paus R., Kovacs L., Biro T.
J. Invest. Dermatol. 131:1605-1614(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION AS NEGATIVE REGULATOR OF HAIR GROWTH, TISSUE SPECIFICITY.
[5]"Exome sequencing reveals mutations in TRPV3 as a cause of Olmsted syndrome."
Lin Z., Chen Q., Lee M., Cao X., Zhang J., Ma D., Chen L., Hu X., Wang H., Wang X., Zhang P., Liu X., Guan L., Tang Y., Yang H., Tu P., Bu D., Zhu X. expand/collapse author list , Wang K., Li R., Yang Y.
Am. J. Hum. Genet. 90:558-564(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS OLMS SER-573; CYS-573 AND GLY-692, CHARACTERIZATION OF VARIANTS OLMS SER-573; CYS-573 AND GLY-692.
[6]"Recurrent heterozygous missense mutation, p.Gly573Ser, in the TRPV3 gene in an Indian boy with sporadic Olmsted syndrome."
Lai-Cheong J.E., Sethuraman G., Ramam M., Stone K., Simpson M.A., McGrath J.A.
Br. J. Dermatol. 167:440-442(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT OLMS SER-573.
+Additional computationally mapped references.

Web resources

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AJ487035 mRNA. Translation: CAD31711.2.
AF514998 mRNA. Translation: AAM54027.1.
AY118267 mRNA. Translation: AAM80558.1.
AY118268 mRNA. Translation: AAM80559.1.
RefSeqNP_659505.1. NM_145068.3.
UniGeneHs.446255.

3D structure databases

ProteinModelPortalQ8NET8.
SMRQ8NET8. Positions 120-413.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid127821. 1 interaction.
STRING9606.ENSP00000301365.

Chemistry

BindingDBQ8NET8.
ChEMBLCHEMBL5522.
DrugBankDB00825. Menthol.
GuidetoPHARMACOLOGY509.

Protein family/group databases

TCDB1.A.4.2.9. the transient receptor potential ca(2+) channel (trp-cc) family.

PTM databases

PhosphoSiteQ8NET8.

Polymorphism databases

DMDM62901456.

Proteomic databases

PaxDbQ8NET8.
PRIDEQ8NET8.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000301365; ENSP00000301365; ENSG00000167723. [Q8NET8-2]
ENST00000572519; ENSP00000460215; ENSG00000167723. [Q8NET8-3]
ENST00000576742; ENSP00000461518; ENSG00000167723. [Q8NET8-1]
GeneID162514.
KEGGhsa:162514.
UCSCuc002fvr.3. human. [Q8NET8-2]
uc002fvt.2. human. [Q8NET8-1]
uc002fvu.3. human. [Q8NET8-3]

Organism-specific databases

CTD162514.
GeneCardsGC17M003363.
H-InvDBHIX0013427.
HGNCHGNC:18084. TRPV3.
MIM607066. gene.
614594. phenotype.
neXtProtNX_Q8NET8.
Orphanet659. Mutilating palmoplantar keratoderma with periorificial keratotic plaques.
PharmGKBPA38481.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG278734.
HOGENOMHOG000234630.
HOVERGENHBG054085.
KOK04972.
OMAHEMLTLE.
OrthoDBEOG7PCJG6.
PhylomeDBQ8NET8.
TreeFamTF314711.

Enzyme and pathway databases

ReactomeREACT_15518. Transmembrane transport of small molecules.

Gene expression databases

ArrayExpressQ8NET8.
BgeeQ8NET8.
CleanExHS_TRPV3.
GenevestigatorQ8NET8.

Family and domain databases

Gene3D1.25.40.20. 1 hit.
InterProIPR002110. Ankyrin_rpt.
IPR020683. Ankyrin_rpt-contain_dom.
IPR005821. Ion_trans_dom.
IPR024862. TRPV.
IPR008347. TRPV1-4_channel.
IPR024866. TRPV3_channel.
[Graphical view]
PANTHERPTHR10582. PTHR10582. 1 hit.
PTHR10582:SF6. PTHR10582:SF6. 1 hit.
PfamPF00023. Ank. 2 hits.
PF12796. Ank_2. 1 hit.
PF00520. Ion_trans. 1 hit.
[Graphical view]
PRINTSPR01768. TRPVRECEPTOR.
SMARTSM00248. ANK. 4 hits.
[Graphical view]
SUPFAMSSF48403. SSF48403. 1 hit.
PROSITEPS50297. ANK_REP_REGION. 1 hit.
PS50088. ANK_REPEAT. 2 hits.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiTRPV3.
GenomeRNAi162514.
NextBio88185.
PROQ8NET8.
SOURCESearch...

Entry information

Entry nameTRPV3_HUMAN
AccessionPrimary (citable) accession number: Q8NET8
Secondary accession number(s): Q8NDW7, Q8NET9, Q8NFH2
Entry history
Integrated into UniProtKB/Swiss-Prot: April 26, 2005
Last sequence update: April 26, 2005
Last modified: April 16, 2014
This is version 95 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 17

Human chromosome 17: entries, gene names and cross-references to MIM