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Q8NET8

- TRPV3_HUMAN

UniProt

Q8NET8 - TRPV3_HUMAN

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Protein

Transient receptor potential cation channel subfamily V member 3

Gene

TRPV3

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- 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

  1. calcium channel activity Source: UniProtKB-KW

GO - Biological processi

  1. calcium ion transmembrane transport Source: Reactome
  2. ion transmembrane transport Source: Reactome
  3. negative regulation of hair cycle Source: UniProtKB
  4. positive regulation of calcium ion import Source: Ensembl
  5. response to heat Source: Ensembl
  6. transmembrane transport Source: Reactome
Complete GO annotation...

Keywords - Molecular functioni

Calcium channel, Ion channel

Keywords - Biological processi

Calcium transport, Ion transport, Transport

Keywords - Ligandi

Calcium

Enzyme and pathway databases

ReactomeiREACT_169333. 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
ProteomesiUP000005640: Chromosome 17

Organism-specific databases

HGNCiHGNC:18084. TRPV3.

Subcellular locationi

GO - Cellular componenti

  1. integral component of membrane Source: UniProtKB-KW
  2. plasma membrane Source: Reactome
  3. receptor complex Source: MGI
Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

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.2 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti573 – 5731G → C in OLMS; gain of function mutation; results in constitutive channel activation. 1 Publication
Corresponds to variant rs199473704 [ dbSNP | Ensembl ].
VAR_067920
Natural varianti573 – 5731G → S in OLMS; gain of function mutation; results in constitutive channel activation. 2 Publications
Corresponds to variant rs199473704 [ dbSNP | Ensembl ].
VAR_067921
Natural varianti692 – 6921W → G in OLMS; gain of function mutation; results in constitutive channel activation. 1 Publication
Corresponds to variant rs199473705 [ dbSNP | Ensembl ].
VAR_067922

Keywords - Diseasei

Disease mutation, Palmoplantar keratoderma

Organism-specific databases

MIMi614594. phenotype.
Orphaneti659. Mutilating palmoplantar keratoderma with periorificial keratotic plaques.
PharmGKBiPA38481.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 790790Transient receptor potential cation channel subfamily V member 3PRO_0000215345Add
BLAST

Proteomic databases

PaxDbiQ8NET8.
PRIDEiQ8NET8.

PTM databases

PhosphoSiteiQ8NET8.

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

BgeeiQ8NET8.
CleanExiHS_TRPV3.
ExpressionAtlasiQ8NET8. baseline and differential.
GenevestigatoriQ8NET8.

Interactioni

Subunit structurei

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

Protein-protein interaction databases

BioGridi127821. 1 interaction.
STRINGi9606.ENSP00000301365.

Structurei

3D structure databases

ProteinModelPortaliQ8NET8.
SMRiQ8NET8. Positions 118-712.
ModBaseiSearch...
MobiDBiSearch...

Topological domain

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 439439CytoplasmicSequence AnalysisAdd
BLAST
Topological domaini461 – 48727ExtracellularSequence AnalysisAdd
BLAST
Topological domaini509 – 52315CytoplasmicSequence AnalysisAdd
BLAST
Topological domaini545 – 5451ExtracellularSequence Analysis
Topological domaini567 – 58923CytoplasmicSequence AnalysisAdd
BLAST
Topological domaini671 – 790120CytoplasmicSequence AnalysisAdd
BLAST

Intramembrane

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Intramembranei621 – 63717Pore-formingSequence AnalysisAdd
BLAST

Transmembrane

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei440 – 46021HelicalSequence AnalysisAdd
BLAST
Transmembranei488 – 50821HelicalSequence AnalysisAdd
BLAST
Transmembranei524 – 54421HelicalSequence AnalysisAdd
BLAST
Transmembranei546 – 56621HelicalSequence AnalysisAdd
BLAST
Transmembranei590 – 61021HelicalSequence AnalysisAdd
BLAST
Transmembranei650 – 67021HelicalSequence AnalysisAdd
BLAST

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati214 – 24330ANK 1Add
BLAST
Repeati261 – 29131ANK 2Add
BLAST
Repeati340 – 36930ANK 3Add
BLAST

Sequence similaritiesi

Contains 3 ANK repeats.PROSITE-ProRule annotation

Keywords - Domaini

ANK repeat, Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG278734.
GeneTreeiENSGT00550000074425.
HOGENOMiHOG000234630.
HOVERGENiHBG054085.
InParanoidiQ8NET8.
KOiK04972.
OMAiHEMLTLE.
OrthoDBiEOG7PCJG6.
PhylomeDBiQ8NET8.
TreeFamiTF314711.

Family and domain databases

Gene3Di1.25.40.20. 1 hit.
InterProiIPR002110. Ankyrin_rpt.
IPR020683. Ankyrin_rpt-contain_dom.
IPR005821. Ion_trans_dom.
IPR008347. TRPV1-4_channel.
IPR024866. TRPV3_channel.
[Graphical view]
PANTHERiPTHR10582:SF6. PTHR10582:SF6. 1 hit.
PfamiPF00023. Ank. 2 hits.
PF12796. Ank_2. 1 hit.
PF00520. Ion_trans. 1 hit.
[Graphical view]
PRINTSiPR01768. TRPVRECEPTOR.
SMARTiSM00248. ANK. 4 hits.
[Graphical view]
SUPFAMiSSF48403. SSF48403. 1 hit.
PROSITEiPS50297. ANK_REP_REGION. 1 hit.
PS50088. ANK_REPEAT. 2 hits.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. Align

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)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti283 – 2831E → G in AAM80558. 1 PublicationCurated
Sequence conflicti283 – 2831E → G in AAM80559. 1 PublicationCurated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti25 – 251I → V.1 Publication
Corresponds to variant rs322965 [ dbSNP | Ensembl ].
VAR_052388
Natural varianti117 – 1171R → G.1 Publication
Corresponds to variant rs322937 [ dbSNP | Ensembl ].
VAR_052389
Natural varianti573 – 5731G → C in OLMS; gain of function mutation; results in constitutive channel activation. 1 Publication
Corresponds to variant rs199473704 [ dbSNP | Ensembl ].
VAR_067920
Natural varianti573 – 5731G → S in OLMS; gain of function mutation; results in constitutive channel activation. 2 Publications
Corresponds to variant rs199473704 [ dbSNP | Ensembl ].
VAR_067921
Natural varianti692 – 6921W → G in OLMS; gain of function mutation; results in constitutive channel activation. 1 Publication
Corresponds to variant rs199473705 [ dbSNP | Ensembl ].
VAR_067922
Natural varianti774 – 7741T → I.
Corresponds to variant rs7212634 [ dbSNP | Ensembl ].
VAR_052390

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei759 – 7591T → TA in isoform 2. 1 PublicationVSP_013433
Alternative sequencei760 – 7656DFNKIQ → GTVAVR in isoform 3. 1 PublicationVSP_013434
Alternative sequencei766 – 79025Missing in isoform 3. 1 PublicationVSP_013435Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.3. human. [Q8NET8-2]
uc002fvt.2. human. [Q8NET8-1]
uc002fvu.3. human. [Q8NET8-3]

Polymorphism databases

DMDMi62901456.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Web resourcesi

Transient receptor potential cation channel, subfamily V, member 3 (TRPV3)

Leiden Open Variation Database (LOVD)

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AJ487035 mRNA. Translation: CAD31711.2 .
AF514998 mRNA. Translation: AAM54027.1 .
AY118267 mRNA. Translation: AAM80558.1 .
AY118268 mRNA. Translation: AAM80559.1 .
CCDSi CCDS11029.1. [Q8NET8-1 ]
CCDS58500.1. [Q8NET8-2 ]
RefSeqi NP_659505.1. NM_145068.3. [Q8NET8-1 ]
UniGenei Hs.446255.

3D structure databases

ProteinModelPortali Q8NET8.
SMRi Q8NET8. Positions 118-712.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 127821. 1 interaction.
STRINGi 9606.ENSP00000301365.

Chemistry

BindingDBi Q8NET8.
ChEMBLi CHEMBL5522.
DrugBanki DB00825. Menthol.
GuidetoPHARMACOLOGYi 509.

Protein family/group databases

TCDBi 1.A.4.2.9. the transient receptor potential ca(2+) channel (trp-cc) family.

PTM databases

PhosphoSitei Q8NET8.

Polymorphism databases

DMDMi 62901456.

Proteomic databases

PaxDbi Q8NET8.
PRIDEi Q8NET8.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000301365 ; ENSP00000301365 ; ENSG00000167723 . [Q8NET8-2 ]
ENST00000572519 ; ENSP00000460215 ; ENSG00000167723 . [Q8NET8-3 ]
ENST00000576742 ; ENSP00000461518 ; ENSG00000167723 . [Q8NET8-1 ]
GeneIDi 162514.
KEGGi hsa:162514.
UCSCi uc002fvr.3. human. [Q8NET8-2 ]
uc002fvt.2. human. [Q8NET8-1 ]
uc002fvu.3. human. [Q8NET8-3 ]

Organism-specific databases

CTDi 162514.
GeneCardsi GC17M003413.
H-InvDB HIX0013427.
HGNCi HGNC:18084. TRPV3.
MIMi 607066. gene.
614594. phenotype.
neXtProti NX_Q8NET8.
Orphaneti 659. Mutilating palmoplantar keratoderma with periorificial keratotic plaques.
PharmGKBi PA38481.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG278734.
GeneTreei ENSGT00550000074425.
HOGENOMi HOG000234630.
HOVERGENi HBG054085.
InParanoidi Q8NET8.
KOi K04972.
OMAi HEMLTLE.
OrthoDBi EOG7PCJG6.
PhylomeDBi Q8NET8.
TreeFami TF314711.

Enzyme and pathway databases

Reactomei REACT_169333. TRP channels.

Miscellaneous databases

GeneWikii TRPV3.
GenomeRNAii 162514.
NextBioi 88185.
PROi Q8NET8.
SOURCEi Search...

Gene expression databases

Bgeei Q8NET8.
CleanExi HS_TRPV3.
ExpressionAtlasi Q8NET8. baseline and differential.
Genevestigatori Q8NET8.

Family and domain databases

Gene3Di 1.25.40.20. 1 hit.
InterProi IPR002110. Ankyrin_rpt.
IPR020683. Ankyrin_rpt-contain_dom.
IPR005821. Ion_trans_dom.
IPR008347. TRPV1-4_channel.
IPR024866. TRPV3_channel.
[Graphical view ]
PANTHERi PTHR10582:SF6. PTHR10582:SF6. 1 hit.
Pfami PF00023. Ank. 2 hits.
PF12796. Ank_2. 1 hit.
PF00520. Ion_trans. 1 hit.
[Graphical view ]
PRINTSi PR01768. TRPVRECEPTOR.
SMARTi SM00248. ANK. 4 hits.
[Graphical view ]
SUPFAMi SSF48403. SSF48403. 1 hit.
PROSITEi PS50297. ANK_REP_REGION. 1 hit.
PS50088. ANK_REPEAT. 2 hits.
[Graphical view ]
ProtoNeti Search...

Publicationsi

  1. Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, TISSUE SPECIFICITY, INTERACTION WITH TRPV1, VARIANTS VAL-25 AND GLY-117.
  2. 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. Cited for: FUNCTION AS NEGATIVE REGULATOR OF HAIR GROWTH, TISSUE SPECIFICITY.
  5. 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.

Entry informationi

Entry nameiTRPV3_HUMAN
AccessioniPrimary (citable) accession number: Q8NET8
Secondary accession number(s): Q8NDW7, Q8NET9, Q8NFH2
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 26, 2005
Last sequence update: April 26, 2005
Last modified: October 29, 2014
This is version 101 of the entry and version 2 of the sequence. [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

Documents

  1. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3