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Protein

Transient receptor potential cation channel subfamily V member 3

Gene

TRPV3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

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).3 Publications

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionCalcium channel, Ion channel
Biological processCalcium transport, Ion transport, Transport
LigandCalcium

Enzyme and pathway databases

ReactomeiR-HSA-3295583 TRP channels

Protein family/group databases

TCDBi1.A.4.2.9 the transient receptor potential ca(2+) channel (trp-cc) family

Names & Taxonomyi

Protein namesi
Recommended 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 namesi
Name:TRPV3
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

EuPathDBiHostDB:ENSG00000167723.14
HGNCiHGNC:18084 TRPV3
MIMi607066 gene
neXtProtiNX_Q8NET8

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 439CytoplasmicSequence analysisAdd BLAST439
Transmembranei440 – 460HelicalSequence analysisAdd BLAST21
Topological domaini461 – 487ExtracellularSequence analysisAdd BLAST27
Transmembranei488 – 508HelicalSequence analysisAdd BLAST21
Topological domaini509 – 523CytoplasmicSequence analysisAdd BLAST15
Transmembranei524 – 544HelicalSequence analysisAdd BLAST21
Topological domaini545ExtracellularSequence analysis1
Transmembranei546 – 566HelicalSequence analysisAdd BLAST21
Topological domaini567 – 589CytoplasmicSequence analysisAdd BLAST23
Transmembranei590 – 610HelicalSequence analysisAdd BLAST21
Intramembranei621 – 637Pore-formingSequence analysisAdd BLAST17
Transmembranei650 – 670HelicalSequence analysisAdd BLAST21
Topological domaini671 – 790CytoplasmicSequence analysisAdd BLAST120

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

Olmsted syndrome (OLMS)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:614594
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_067920573G → C in OLMS; gain of function mutation; results in constitutive channel activation. 1 PublicationCorresponds to variant dbSNP:rs199473704EnsemblClinVar.1
Natural variantiVAR_067921573G → S in OLMS; gain of function mutation; results in constitutive channel activation. 2 PublicationsCorresponds to variant dbSNP:rs199473704EnsemblClinVar.1
Natural variantiVAR_067922692W → G in OLMS; gain of function mutation; results in constitutive channel activation. 1 PublicationCorresponds to variant dbSNP:rs199473705EnsemblClinVar.1
Palmoplantar keratoderma, non-epidermolytic, focal 2 (FNEPPK2)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA dermatological disorder characterized by non-epidermolytic, abnormal thickening of the skin on the palms and soles. Focal palmoplantar keratoderma consists of localized areas of hyperkeratosis located mainly on pressure points and sites of recurrent friction.
See also OMIM:616400
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_073832580Q → P in FNEPPK2; gain of function mutation. 1 PublicationCorresponds to variant dbSNP:rs786205869EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Palmoplantar keratoderma

Organism-specific databases

DisGeNETi162514
MalaCardsiTRPV3
MIMi614594 phenotype
616400 phenotype
OpenTargetsiENSG00000167723
Orphaneti659 Mutilating palmoplantar keratoderma with periorificial keratotic plaques
PharmGKBiPA38481

Chemistry databases

ChEMBLiCHEMBL5522
DrugBankiDB00825 Menthol
GuidetoPHARMACOLOGYi509

Polymorphism and mutation databases

BioMutaiTRPV3
DMDMi62901456

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002153451 – 790Transient receptor potential cation channel subfamily V member 3Add BLAST790

Proteomic databases

PaxDbiQ8NET8
PeptideAtlasiQ8NET8
PRIDEiQ8NET8

PTM databases

iPTMnetiQ8NET8
PhosphoSitePlusiQ8NET8

Expressioni

Tissue specificityi

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).3 Publications

Gene expression databases

BgeeiENSG00000167723
CleanExiHS_TRPV3
ExpressionAtlasiQ8NET8 baseline and differential
GenevisibleiQ8NET8 HS

Organism-specific databases

HPAiHPA069550

Interactioni

Subunit structurei

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

Protein-protein interaction databases

BioGridi127821, 4 interactors
STRINGi9606.ENSP00000461518

Chemistry databases

BindingDBiQ8NET8

Structurei

3D structure databases

ProteinModelPortaliQ8NET8
SMRiQ8NET8
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati214 – 243ANK 1Add BLAST30
Repeati261 – 291ANK 2Add BLAST31
Repeati340 – 369ANK 3Add BLAST30

Sequence similaritiesi

Keywords - Domaini

ANK repeat, Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG3676 Eukaryota
ENOG4110DG4 LUCA
GeneTreeiENSGT00550000074425
HOGENOMiHOG000234630
HOVERGENiHBG054085
InParanoidiQ8NET8
KOiK04972
OMAiKHEGFYF
OrthoDBiEOG091G020O
PhylomeDBiQ8NET8
TreeFamiTF314711

Family and domain databases

CDDicd00204 ANK, 1 hit
Gene3Di1.25.40.20, 1 hit
InterProiView protein in InterPro
IPR002110 Ankyrin_rpt
IPR020683 Ankyrin_rpt-contain_dom
IPR036770 Ankyrin_rpt-contain_sf
IPR005821 Ion_trans_dom
IPR024862 TRPV
IPR008347 TRPV1-4_channel
IPR024866 TRPV3_channel
PANTHERiPTHR10582 PTHR10582, 1 hit
PTHR10582:SF6 PTHR10582:SF6, 1 hit
PfamiView protein in Pfam
PF12796 Ank_2, 1 hit
PF00520 Ion_trans, 1 hit
PRINTSiPR01768 TRPVRECEPTOR
SMARTiView protein in SMART
SM00248 ANK, 4 hits
SUPFAMiSSF48403 SSF48403, 1 hit
PROSITEiView protein in PROSITE
PS50297 ANK_REP_REGION, 1 hit
PS50088 ANK_REPEAT, 2 hits

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q8NET8-1) [UniParc]FASTAAdd to basket

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.

« Hide

        10         20         30         40         50
MKAHPKEMVP LMGKRVAAPS GNPAILPEKR PAEITPTKKS AHFFLEIEGF
60 70 80 90 100
EPNPTVAKTS PPVFSKPMDS NIRQCISGNC DDMDSPQSPQ DDVTETPSNP
110 120 130 140 150
NSPSAQLAKE EQRRKKRRLK KRIFAAVSEG CVEELVELLV ELQELCRRRH
160 170 180 190 200
DEDVPDFLMH KLTASDTGKT CLMKALLNIN PNTKEIVRIL LAFAEENDIL
210 220 230 240 250
GRFINAEYTE EAYEGQTALN IAIERRQGDI AALLIAAGAD VNAHAKGAFF
260 270 280 290 300
NPKYQHEGFY FGETPLALAA CTNQPEIVQL LMEHEQTDIT SRDSRGNNIL
310 320 330 340 350
HALVTVAEDF KTQNDFVKRM YDMILLRSGN WELETTRNND GLTPLQLAAK
360 370 380 390 400
MGKAEILKYI LSREIKEKRL RSLSRKFTDW AYGPVSSSLY DLTNVDTTTD
410 420 430 440 450
NSVLEITVYN TNIDNRHEML TLEPLHTLLH MKWKKFAKHM FFLSFCFYFF
460 470 480 490 500
YNITLTLVSY YRPREEEAIP HPLALTHKMG WLQLLGRMFV LIWAMCISVK
510 520 530 540 550
EGIAIFLLRP SDLQSILSDA WFHFVFFIQA VLVILSVFLY LFAYKEYLAC
560 570 580 590 600
LVLAMALGWA NMLYYTRGFQ SMGMYSVMIQ KVILHDVLKF LFVYIVFLLG
610 620 630 640 650
FGVALASLIE KCPKDNKDCS SYGSFSDAVL ELFKLTIGLG DLNIQQNSKY
660 670 680 690 700
PILFLFLLIT YVILTFVLLL NMLIALMGET VENVSKESER IWRLQRARTI
710 720 730 740 750
LEFEKMLPEW LRSRFRMGEL CKVAEDDFRL CLRINEVKWT EWKTHVSFLN
760 770 780 790
EDPGPVRRTD FNKIQDSSRN NSKTTLNAFE EVEEFPETSV
Length:790
Mass (Da):90,636
Last modified:April 26, 2005 - v2
Checksum:i31EB9973C015B611
GO
Isoform 2 (identifier: Q8NET8-2) [UniParc]FASTAAdd to basket
Also known as: A

The sequence of this isoform differs from the canonical sequence as follows:
     759-759: T → TA

Show »
Length:791
Mass (Da):90,707
Checksum:i264D20FFF12791C4
GO
Isoform 3 (identifier: Q8NET8-3) [UniParc]FASTAAdd to basket
Also known as: B

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

Show »
Length:765
Mass (Da):87,661
Checksum:i710D3545A7107B73
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti283E → G in AAM80558 (Ref. 3) Curated1
Sequence conflicti283E → G in AAM80559 (Ref. 3) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05238825I → V1 PublicationCorresponds to variant dbSNP:rs322965EnsemblClinVar.1
Natural variantiVAR_052389117R → G1 PublicationCorresponds to variant dbSNP:rs322937EnsemblClinVar.1
Natural variantiVAR_067920573G → C in OLMS; gain of function mutation; results in constitutive channel activation. 1 PublicationCorresponds to variant dbSNP:rs199473704EnsemblClinVar.1
Natural variantiVAR_067921573G → S in OLMS; gain of function mutation; results in constitutive channel activation. 2 PublicationsCorresponds to variant dbSNP:rs199473704EnsemblClinVar.1
Natural variantiVAR_073832580Q → P in FNEPPK2; gain of function mutation. 1 PublicationCorresponds to variant dbSNP:rs786205869EnsemblClinVar.1
Natural variantiVAR_067922692W → G in OLMS; gain of function mutation; results in constitutive channel activation. 1 PublicationCorresponds to variant dbSNP:rs199473705EnsemblClinVar.1
Natural variantiVAR_052390774T → I. Corresponds to variant dbSNP:rs7212634EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_013433759T → TA in isoform 2. 1 Publication1
Alternative sequenceiVSP_013434760 – 765DFNKIQ → GTVAVR in isoform 3. 1 Publication6
Alternative sequenceiVSP_013435766 – 790Missing in isoform 3. 1 PublicationAdd BLAST25

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ487035 mRNA Translation: CAD31711.2
AF514998 mRNA Translation: AAM54027.1
AY118267 mRNA Translation: AAM80558.1
AY118268 mRNA Translation: AAM80559.1
CCDSiCCDS11029.1 [Q8NET8-1]
CCDS58500.1 [Q8NET8-2]
RefSeqiNP_659505.1, NM_145068.3 [Q8NET8-1]
UniGeneiHs.446255

Genome annotation databases

EnsembliENST00000301365; ENSP00000301365; ENSG00000167723 [Q8NET8-2]
ENST00000572519; ENSP00000460215; ENSG00000167723 [Q8NET8-3]
ENST00000576742; ENSP00000461518; ENSG00000167723 [Q8NET8-1]
GeneIDi162514
KEGGihsa:162514
UCSCiuc002fvr.4 human [Q8NET8-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiTRPV3_HUMAN
AccessioniPrimary (citable) accession number: Q8NET8
Secondary accession number(s): Q8NDW7, Q8NET9, Q8NFH2
Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 26, 2005
Last sequence update: April 26, 2005
Last modified: May 23, 2018
This is version 130 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

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