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Protein

Transient receptor potential cation channel subfamily V member 5

Gene

TRPV5

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Constitutively active calcium selective cation channel thought to be involved in Ca2+ reabsorption in kidney and intestine (PubMed:11549322, PubMed:18768590). Required for normal Ca2+ reabsorption in the kidney distal convoluted tubules (By similarity). The channel is activated by low internal calcium level and the current exhibits an inward rectification (PubMed:11549322, PubMed:18768590). A Ca2+-dependent feedback regulation includes fast channel inactivation and slow current decay (By similarity). Heteromeric assembly with TRPV6 seems to modify channel properties. TRPV5-TRPV6 heteromultimeric concatemers exhibit voltage-dependent gating (By similarity).By similarity2 Publications

Enzyme regulationi

Activated by WNK3.1 Publication

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Metal bindingi542Calcium; shared with neighboring subunitsBy similarity1

GO - Molecular functioni

  • calcium channel activity Source: UniProtKB
  • metal ion binding Source: UniProtKB-KW

GO - Biological processi

  • calcium ion homeostasis Source: UniProtKB
  • calcium ion import into cell Source: UniProtKB
  • calcium ion transmembrane transport Source: UniProtKB
  • calcium ion transport Source: UniProtKB
  • protein tetramerization Source: UniProtKB
  • regulation of urine volume Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Calcium channel, Ion channel

Keywords - Biological processi

Calcium transport, Ion transport, Transport

Keywords - Ligandi

Calcium, Calmodulin-binding, Metal-binding

Enzyme and pathway databases

BioCyciZFISH:ENSG00000127412-MONOMER.
ReactomeiR-HSA-3295583. TRP channels.
SIGNORiQ9NQA5.

Protein family/group databases

TCDBi1.A.4.2.10. the transient receptor potential ca(2+) channel (trp-cc) family.

Names & Taxonomyi

Protein namesi
Recommended name:
Transient receptor potential cation channel subfamily V member 5
Short name:
TrpV5
Alternative name(s):
Calcium transport protein 2
Short name:
CaT2
Epithelial calcium channel 1
Short name:
ECaC
Short name:
ECaC1
Osm-9-like TRP channel 3
Short name:
OTRPC3
Gene namesi
Name:TRPV5
Synonyms:ECAC1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 7

Organism-specific databases

HGNCiHGNC:3145. TRPV5.

Subcellular locationi

  • Apical cell membrane 1 Publication; Multi-pass membrane protein 1 Publication

  • Note: Colocalized with S100A10 and ANAX2 along the apical domain of kidney distal tubular cells (By similarity). The expression of the glycosylated form in the cell membrane is increased in the presence of WNK3 (PubMed:18768590).By similarity1 Publication

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 327CytoplasmicSequence analysisAdd BLAST327
Transmembranei328 – 348HelicalSequence analysisAdd BLAST21
Topological domaini349 – 387ExtracellularSequence analysisAdd BLAST39
Transmembranei388 – 408HelicalSequence analysisAdd BLAST21
Topological domaini409 – 419CytoplasmicSequence analysisAdd BLAST11
Transmembranei420 – 440HelicalSequence analysisAdd BLAST21
Topological domaini441 – 448ExtracellularSequence analysis8
Transmembranei449 – 469HelicalSequence analysisAdd BLAST21
Topological domaini470 – 492CytoplasmicSequence analysisAdd BLAST23
Transmembranei493 – 513HelicalSequence analysisAdd BLAST21
Intramembranei524 – 544Pore-formingCuratedAdd BLAST21
Transmembranei557 – 577HelicalSequence analysisAdd BLAST21
Topological domaini578 – 729CytoplasmicSequence analysisAdd BLAST152

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi358N → Q: Loss of glycosylation. 1 Publication1

Organism-specific databases

DisGeNETi56302.
PharmGKBiPA35045.

Chemistry databases

GuidetoPHARMACOLOGYi511.

Polymorphism and mutation databases

BioMutaiTRPV5.
DMDMi62901471.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002153501 – 729Transient receptor potential cation channel subfamily V member 5Add BLAST729

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi358N-linked (GlcNAc...)1 Publication1
Modified residuei685PhosphothreonineBy similarity1
Modified residuei689PhosphoserineBy similarity1

Post-translational modificationi

Glycosylated.1 Publication

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

EPDiQ9NQA5.
MaxQBiQ9NQA5.
PaxDbiQ9NQA5.
PeptideAtlasiQ9NQA5.
PRIDEiQ9NQA5.

PTM databases

iPTMnetiQ9NQA5.
PhosphoSitePlusiQ9NQA5.
SwissPalmiQ9NQA5.

Expressioni

Tissue specificityi

Expressed at high levels in kidney, small intestine and pancreas, and at lower levels in testis, prostate, placenta, brain, colon and rectum.2 Publications

Gene expression databases

BgeeiENSG00000127412.
CleanExiHS_TRPV5.
ExpressionAtlasiQ9NQA5. baseline and differential.
GenevisibleiQ9NQA5. HS.

Organism-specific databases

HPAiHPA063175.

Interactioni

Subunit structurei

Homotetramer and probably heterotetramer with TRPV6. Interacts with TRPV6 (By similarity). Interacts with S100A10 and probably with the ANAX2-S100A10 heterotetramer. The interaction with S100A10 is required for the trafficking to the plasma membrane. Interacts with calmodulin. Interacts with BSPRY, which results in its inactivation.By similarity

Binary interactionsi

WithEntry#Exp.IntActNotes
CALB1P059374EBI-751281,EBI-4286943

Protein-protein interaction databases

BioGridi121137. 20 interactors.
IntActiQ9NQA5. 2 interactors.
MINTiMINT-1470011.
STRINGi9606.ENSP00000265310.

Structurei

3D structure databases

ProteinModelPortaliQ9NQA5.
SMRiQ9NQA5.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati44 – 74ANK 1Sequence analysisAdd BLAST31
Repeati78 – 107ANK 2Sequence analysisAdd BLAST30
Repeati116 – 145ANK 3Sequence analysisAdd BLAST30
Repeati162 – 191ANK 4Sequence analysisAdd BLAST30
Repeati195 – 228ANK 5Sequence analysisAdd BLAST34
Repeati239 – 268ANK 6Sequence analysisAdd BLAST30

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni598 – 602Interaction with S100A10By similarity5
Regioni650 – 653Involved in Ca(2+)-dependent inactivationBy similarity4
Regioni700 – 729Involved in Ca(2+)-dependent inactivationBy similarityAdd BLAST30

Sequence similaritiesi

Contains 6 ANK repeats.PROSITE-ProRule annotation

Keywords - Domaini

ANK repeat, Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG3676. Eukaryota.
ENOG4110DG4. LUCA.
HOGENOMiHOG000207344.
HOVERGENiHBG061442.
InParanoidiQ9NQA5.
KOiK04974.
PhylomeDBiQ9NQA5.
TreeFamiTF314711.

Family and domain databases

Gene3Di1.25.40.20. 2 hits.
InterProiIPR002110. Ankyrin_rpt.
IPR020683. Ankyrin_rpt-contain_dom.
IPR005821. Ion_trans_dom.
IPR004729. TRP_channel.
IPR008346. TRPV5.
IPR008344. TRPV5/TRPV6.
[Graphical view]
PANTHERiPTHR10582:SF11. PTHR10582:SF11. 1 hit.
PfamiPF00023. Ank. 1 hit.
PF12796. Ank_2. 1 hit.
PF00520. Ion_trans. 1 hit.
[Graphical view]
PRINTSiPR01415. ANKYRIN.
PR01765. ECACCHANNEL.
PR01767. ECACCHANNEL2.
SMARTiSM00248. ANK. 5 hits.
[Graphical view]
SUPFAMiSSF48403. SSF48403. 1 hit.
TIGRFAMsiTIGR00870. trp. 1 hit.
PROSITEiPS50297. ANK_REP_REGION. 1 hit.
PS50088. ANK_REPEAT. 2 hits.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9NQA5-1) [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
MGGFLPKAEG PGSQLQKLLP SFLVREQDWD QHLDKLHMLQ QKRILESPLL
60 70 80 90 100
RASKENDLSV LRQLLLDCTC DVRQRGALGE TALHIAALYD NLEAALVLME
110 120 130 140 150
AAPELVFEPT TCEAFAGQTA LHIAVVNQNV NLVRALLTRR ASVSARATGT
160 170 180 190 200
AFRRSPRNLI YFGEHPLSFA ACVNSEEIVR LLIEHGADIR AQDSLGNTVL
210 220 230 240 250
HILILQPNKT FACQMYNLLL SYDGHGDHLQ PLDLVPNHQG LTPFKLAGVE
260 270 280 290 300
GNTVMFQHLM QKRRHIQWTY GPLTSILYDL TEIDSWGEEL SFLELVVSSD
310 320 330 340 350
KREARQILEQ TPVKELVSFK WNKYGRPYFC ILAALYLLYM ICFTTCCVYR
360 370 380 390 400
PLKFRGGNRT HSRDITILQQ KLLQEAYETR EDIIRLVGEL VSIVGAVIIL
410 420 430 440 450
LLEIPDIFRV GASRYFGKTI LGGPFHVIII TYASLVLVTM VMRLTNTNGE
460 470 480 490 500
VVPMSFALVL GWCSVMYFTR GFQMLGPFTI MIQKMIFGDL MRFCWLMAVV
510 520 530 540 550
ILGFASAFYI IFQTEDPTSL GQFYDYPMAL FTTFELFLTV IDAPANYDVD
560 570 580 590 600
LPFMFSIVNF AFAIIATLLM LNLFIAMMGD THWRVAQERD ELWRAQVVAT
610 620 630 640 650
TVMLERKLPR CLWPRSGICG CEFGLGDRWF LRVENHNDQN PLRVLRYVEV
660 670 680 690 700
FKNSDKEDDQ EHPSEKQPSG AESGTLARAS LALPTSSLSR TASQSSSHRG
710 720
WEILRQNTLG HLNLGLNLSE GDGEEVYHF
Length:729
Mass (Da):82,551
Last modified:March 1, 2002 - v2
Checksum:iA10FB80205FD0DBB
GO
Isoform 2 (identifier: Q9NQA5-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     375-381: EAYETRE → VILLRRG
     382-729: Missing.

Note: No experimental confirmation available.
Show »
Length:381
Mass (Da):43,186
Checksum:iB84D5AF87D134ECC
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0222478A → V.1 PublicationCorresponds to variant rs4252372dbSNPEnsembl.1
Natural variantiVAR_022248154R → H.3 PublicationsCorresponds to variant rs4236480dbSNPEnsembl.1
Natural variantiVAR_022249563A → T.1 PublicationCorresponds to variant rs4252499dbSNPEnsembl.1
Natural variantiVAR_022250712L → F.1 PublicationCorresponds to variant rs4252509dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_057199375 – 381EAYETRE → VILLRRG in isoform 2. 1 Publication7
Alternative sequenceiVSP_057200382 – 729Missing in isoform 2. 1 PublicationAdd BLAST348

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ271207 mRNA. Translation: CAB96365.2.
AF304464 mRNA. Translation: AAL04015.1.
AJ487965 mRNA. Translation: CAD32312.2.
AY206695 Genomic DNA. Translation: AAO13488.1.
AC245427 Genomic DNA. No translation available.
CH236959 Genomic DNA. Translation: EAL23777.1.
CH471198 Genomic DNA. Translation: EAW51896.1.
BC034740 mRNA. Translation: AAH34740.1.
CCDSiCCDS5875.1. [Q9NQA5-1]
RefSeqiNP_062815.3. NM_019841.6.
UniGeneiHs.283369.

Genome annotation databases

EnsembliENST00000442623; ENSP00000406572; ENSG00000127412.
GeneIDi56302.
KEGGihsa:56302.
UCSCiuc003wbz.3. human. [Q9NQA5-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Web resourcesi

SeattleSNPs

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ271207 mRNA. Translation: CAB96365.2.
AF304464 mRNA. Translation: AAL04015.1.
AJ487965 mRNA. Translation: CAD32312.2.
AY206695 Genomic DNA. Translation: AAO13488.1.
AC245427 Genomic DNA. No translation available.
CH236959 Genomic DNA. Translation: EAL23777.1.
CH471198 Genomic DNA. Translation: EAW51896.1.
BC034740 mRNA. Translation: AAH34740.1.
CCDSiCCDS5875.1. [Q9NQA5-1]
RefSeqiNP_062815.3. NM_019841.6.
UniGeneiHs.283369.

3D structure databases

ProteinModelPortaliQ9NQA5.
SMRiQ9NQA5.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi121137. 20 interactors.
IntActiQ9NQA5. 2 interactors.
MINTiMINT-1470011.
STRINGi9606.ENSP00000265310.

Chemistry databases

GuidetoPHARMACOLOGYi511.

Protein family/group databases

TCDBi1.A.4.2.10. the transient receptor potential ca(2+) channel (trp-cc) family.

PTM databases

iPTMnetiQ9NQA5.
PhosphoSitePlusiQ9NQA5.
SwissPalmiQ9NQA5.

Polymorphism and mutation databases

BioMutaiTRPV5.
DMDMi62901471.

Proteomic databases

EPDiQ9NQA5.
MaxQBiQ9NQA5.
PaxDbiQ9NQA5.
PeptideAtlasiQ9NQA5.
PRIDEiQ9NQA5.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000442623; ENSP00000406572; ENSG00000127412.
GeneIDi56302.
KEGGihsa:56302.
UCSCiuc003wbz.3. human. [Q9NQA5-1]

Organism-specific databases

CTDi56302.
DisGeNETi56302.
GeneCardsiTRPV5.
HGNCiHGNC:3145. TRPV5.
HPAiHPA063175.
MIMi606679. gene.
neXtProtiNX_Q9NQA5.
PharmGKBiPA35045.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3676. Eukaryota.
ENOG4110DG4. LUCA.
HOGENOMiHOG000207344.
HOVERGENiHBG061442.
InParanoidiQ9NQA5.
KOiK04974.
PhylomeDBiQ9NQA5.
TreeFamiTF314711.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000127412-MONOMER.
ReactomeiR-HSA-3295583. TRP channels.
SIGNORiQ9NQA5.

Miscellaneous databases

GeneWikiiTRPV5.
GenomeRNAii56302.
PROiQ9NQA5.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000127412.
CleanExiHS_TRPV5.
ExpressionAtlasiQ9NQA5. baseline and differential.
GenevisibleiQ9NQA5. HS.

Family and domain databases

Gene3Di1.25.40.20. 2 hits.
InterProiIPR002110. Ankyrin_rpt.
IPR020683. Ankyrin_rpt-contain_dom.
IPR005821. Ion_trans_dom.
IPR004729. TRP_channel.
IPR008346. TRPV5.
IPR008344. TRPV5/TRPV6.
[Graphical view]
PANTHERiPTHR10582:SF11. PTHR10582:SF11. 1 hit.
PfamiPF00023. Ank. 1 hit.
PF12796. Ank_2. 1 hit.
PF00520. Ion_trans. 1 hit.
[Graphical view]
PRINTSiPR01415. ANKYRIN.
PR01765. ECACCHANNEL.
PR01767. ECACCHANNEL2.
SMARTiSM00248. ANK. 5 hits.
[Graphical view]
SUPFAMiSSF48403. SSF48403. 1 hit.
TIGRFAMsiTIGR00870. trp. 1 hit.
PROSITEiPS50297. ANK_REP_REGION. 1 hit.
PS50088. ANK_REPEAT. 2 hits.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiTRPV5_HUMAN
AccessioniPrimary (citable) accession number: Q9NQA5
Secondary accession number(s): A4D2H7
, E9PBZ6, Q8N4C1, Q8NDW5, Q8NDX7, Q8NDX8, Q96PM6
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 26, 2005
Last sequence update: March 1, 2002
Last modified: November 30, 2016
This is version 142 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 7
    Human chromosome 7: 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.