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Q9NQA5

- TRPV5_HUMAN

UniProt

Q9NQA5 - TRPV5_HUMAN

Protein

Transient receptor potential cation channel subfamily V member 5

Gene

TRPV5

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 118 (01 Oct 2014)
      Sequence version 2 (01 Mar 2002)
      Previous versions | rss
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    Functioni

    Constitutively active calcium selective cation channel thought to be involved in Ca2+ reabsorption in kidney and intestine. The channel is activated by low internal calcium level and the current exhibits an inward rectification. A Ca2+-dependent feedback regulation includes fast channel inactivation and slow current decay. Heteromeric assembly with TRPV6 seems to modify channel properties. TRPV5-TRPV6 heteromultimeric concatemers exhibit voltage-dependent gating By similarity.By similarity

    Enzyme regulationi

    Activated by WNK3.1 Publication

    GO - Molecular functioni

    1. calcium channel activity Source: UniProtKB
    2. protein binding Source: IntAct

    GO - Biological processi

    1. calcium ion transmembrane transport Source: Reactome
    2. calcium ion transport Source: UniProtKB
    3. calcium ion transport into cytosol Source: Ensembl
    4. ion transmembrane transport Source: Reactome
    5. protein tetramerization Source: UniProtKB
    6. transmembrane transport Source: Reactome

    Keywords - Molecular functioni

    Calcium channel, Ion channel

    Keywords - Biological processi

    Calcium transport, Ion transport, Transport

    Keywords - Ligandi

    Calcium, Calmodulin-binding

    Enzyme and pathway databases

    ReactomeiREACT_169333. TRP channels.

    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
    ProteomesiUP000005640: 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.By similarity

    GO - Cellular componenti

    1. apical plasma membrane Source: UniProtKB-SubCell
    2. integral component of plasma membrane Source: UniProtKB
    3. plasma membrane Source: Reactome

    Keywords - Cellular componenti

    Cell membrane, Membrane

    Pathology & Biotechi

    Mutagenesis

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Mutagenesisi358 – 3581N → Q: Loss of glycosylation. 1 Publication

    Organism-specific databases

    PharmGKBiPA35045.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 729729Transient receptor potential cation channel subfamily V member 5PRO_0000215350Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi358 – 3581N-linked (GlcNAc...)1 Publication

    Post-translational modificationi

    Glycosylated.1 Publication

    Keywords - PTMi

    Glycoprotein

    Proteomic databases

    PaxDbiQ9NQA5.
    PRIDEiQ9NQA5.

    PTM databases

    PhosphoSiteiQ9NQA5.

    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

    ArrayExpressiQ9NQA5.
    BgeeiQ9NQA5.
    CleanExiHS_TRPV5.
    GenevestigatoriQ9NQA5.

    Interactioni

    Subunit structurei

    Homotetramer and probably heterotetramer with TRPV6. Interacts with TRPV6. 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.By similarity

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    CALB1P059374EBI-1053443,EBI-4286943

    Protein-protein interaction databases

    BioGridi121137. 3 interactions.
    IntActiQ9NQA5. 1 interaction.
    MINTiMINT-1470011.
    STRINGi9606.ENSP00000265310.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9NQA5.
    SMRiQ9NQA5. Positions 8-614.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 327327CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini349 – 38739ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini409 – 41911CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini441 – 4488ExtracellularSequence Analysis
    Topological domaini470 – 49223CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini578 – 729152CytoplasmicSequence AnalysisAdd
    BLAST

    Intramembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Intramembranei524 – 54421Pore-formingCuratedAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei328 – 34821HelicalSequence AnalysisAdd
    BLAST
    Transmembranei388 – 40821HelicalSequence AnalysisAdd
    BLAST
    Transmembranei420 – 44021HelicalSequence AnalysisAdd
    BLAST
    Transmembranei449 – 46921HelicalSequence AnalysisAdd
    BLAST
    Transmembranei493 – 51321HelicalSequence AnalysisAdd
    BLAST
    Transmembranei557 – 57721HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Repeati44 – 7431ANK 1Add
    BLAST
    Repeati78 – 10730ANK 2Add
    BLAST
    Repeati116 – 14530ANK 3Add
    BLAST
    Repeati162 – 19130ANK 4Add
    BLAST
    Repeati239 – 26830ANK 5Add
    BLAST

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni598 – 6025Interaction with S100A10By similarity
    Regioni650 – 6534Involved in Ca(2+)-dependent inactivationBy similarity
    Regioni700 – 72930Involved in Ca(2+)-dependent inactivationBy similarityAdd
    BLAST

    Sequence similaritiesi

    Contains 5 ANK repeats.PROSITE-ProRule annotation

    Keywords - Domaini

    ANK repeat, Repeat, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG278734.
    HOGENOMiHOG000234397.
    HOVERGENiHBG061442.
    InParanoidiQ9NQA5.
    KOiK04974.
    OMAiLCEPFVG.
    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.
    PfamiPF12796. 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]

    Sequencei

    Sequence statusi: Complete.

    Q9NQA5-1 [UniParc]FASTAAdd to Basket

    « Hide

    MGGFLPKAEG PGSQLQKLLP SFLVREQDWD QHLDKLHMLQ QKRILESPLL    50
    RASKENDLSV LRQLLLDCTC DVRQRGALGE TALHIAALYD NLEAALVLME 100
    AAPELVFEPT TCEAFAGQTA LHIAVVNQNV NLVRALLTRR ASVSARATGT 150
    AFRRSPRNLI YFGEHPLSFA ACVNSEEIVR LLIEHGADIR AQDSLGNTVL 200
    HILILQPNKT FACQMYNLLL SYDGHGDHLQ PLDLVPNHQG LTPFKLAGVE 250
    GNTVMFQHLM QKRRHIQWTY GPLTSILYDL TEIDSWGEEL SFLELVVSSD 300
    KREARQILEQ TPVKELVSFK WNKYGRPYFC ILAALYLLYM ICFTTCCVYR 350
    PLKFRGGNRT HSRDITILQQ KLLQEAYETR EDIIRLVGEL VSIVGAVIIL 400
    LLEIPDIFRV GASRYFGKTI LGGPFHVIII TYASLVLVTM VMRLTNTNGE 450
    VVPMSFALVL GWCSVMYFTR GFQMLGPFTI MIQKMIFGDL MRFCWLMAVV 500
    ILGFASAFYI IFQTEDPTSL GQFYDYPMAL FTTFELFLTV IDAPANYDVD 550
    LPFMFSIVNF AFAIIATLLM LNLFIAMMGD THWRVAQERD ELWRAQVVAT 600
    TVMLERKLPR CLWPRSGICG CEFGLGDRWF LRVENHNDQN PLRVLRYVEV 650
    FKNSDKEDDQ EHPSEKQPSG AESGTLARAS LALPTSSLSR TASQSSSHRG 700
    WEILRQNTLG HLNLGLNLSE GDGEEVYHF 729
    Length:729
    Mass (Da):82,551
    Last modified:March 1, 2002 - v2
    Checksum:iA10FB80205FD0DBB
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti8 – 81A → V.1 Publication
    Corresponds to variant rs4252372 [ dbSNP | Ensembl ].
    VAR_022247
    Natural varianti154 – 1541R → H.2 Publications
    Corresponds to variant rs4236480 [ dbSNP | Ensembl ].
    VAR_022248
    Natural varianti563 – 5631A → T.1 Publication
    Corresponds to variant rs4252499 [ dbSNP | Ensembl ].
    VAR_022249
    Natural varianti712 – 7121L → F.1 Publication
    Corresponds to variant rs4252509 [ dbSNP | Ensembl ].
    VAR_022250

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AJ271207 mRNA. Translation: CAB96365.2.
    AF304464 mRNA. Translation: AAL04015.1.
    AJ487965 mRNA. Translation: CAD32312.2.
    AY206695 Genomic DNA. Translation: AAO13488.1.
    CH236959 Genomic DNA. Translation: EAL23777.1.
    CH471198 Genomic DNA. Translation: EAW51896.1.
    CCDSiCCDS5875.1.
    RefSeqiNP_062815.2. NM_019841.5.
    UniGeneiHs.283369.

    Genome annotation databases

    EnsembliENST00000265310; ENSP00000265310; ENSG00000127412.
    GeneIDi56302.
    KEGGihsa:56302.
    UCSCiuc003wby.1. human.

    Polymorphism databases

    DMDMi62901471.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Web resourcesi

    SeattleSNPs

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AJ271207 mRNA. Translation: CAB96365.2 .
    AF304464 mRNA. Translation: AAL04015.1 .
    AJ487965 mRNA. Translation: CAD32312.2 .
    AY206695 Genomic DNA. Translation: AAO13488.1 .
    CH236959 Genomic DNA. Translation: EAL23777.1 .
    CH471198 Genomic DNA. Translation: EAW51896.1 .
    CCDSi CCDS5875.1.
    RefSeqi NP_062815.2. NM_019841.5.
    UniGenei Hs.283369.

    3D structure databases

    ProteinModelPortali Q9NQA5.
    SMRi Q9NQA5. Positions 8-614.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 121137. 3 interactions.
    IntActi Q9NQA5. 1 interaction.
    MINTi MINT-1470011.
    STRINGi 9606.ENSP00000265310.

    Chemistry

    ChEMBLi CHEMBL1628474.
    GuidetoPHARMACOLOGYi 511.

    Protein family/group databases

    TCDBi 1.A.4.2.10. the transient receptor potential ca(2+) channel (trp-cc) family.

    PTM databases

    PhosphoSitei Q9NQA5.

    Polymorphism databases

    DMDMi 62901471.

    Proteomic databases

    PaxDbi Q9NQA5.
    PRIDEi Q9NQA5.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000265310 ; ENSP00000265310 ; ENSG00000127412 .
    GeneIDi 56302.
    KEGGi hsa:56302.
    UCSCi uc003wby.1. human.

    Organism-specific databases

    CTDi 56302.
    GeneCardsi GC07M142606.
    HGNCi HGNC:3145. TRPV5.
    MIMi 606679. gene.
    neXtProti NX_Q9NQA5.
    PharmGKBi PA35045.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG278734.
    HOGENOMi HOG000234397.
    HOVERGENi HBG061442.
    InParanoidi Q9NQA5.
    KOi K04974.
    OMAi LCEPFVG.
    PhylomeDBi Q9NQA5.
    TreeFami TF314711.

    Enzyme and pathway databases

    Reactomei REACT_169333. TRP channels.

    Miscellaneous databases

    GeneWikii TRPV5.
    GenomeRNAii 56302.
    NextBioi 61971.
    PROi Q9NQA5.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9NQA5.
    Bgeei Q9NQA5.
    CleanExi HS_TRPV5.
    Genevestigatori Q9NQA5.

    Family and domain databases

    Gene3Di 1.25.40.20. 2 hits.
    InterProi IPR002110. Ankyrin_rpt.
    IPR020683. Ankyrin_rpt-contain_dom.
    IPR005821. Ion_trans_dom.
    IPR004729. TRP_channel.
    IPR008346. TRPV5.
    IPR008344. TRPV5/TRPV6.
    [Graphical view ]
    PANTHERi PTHR10582:SF11. PTHR10582:SF11. 1 hit.
    Pfami PF12796. Ank_2. 1 hit.
    PF00520. Ion_trans. 1 hit.
    [Graphical view ]
    PRINTSi PR01415. ANKYRIN.
    PR01765. ECACCHANNEL.
    PR01767. ECACCHANNEL2.
    SMARTi SM00248. ANK. 5 hits.
    [Graphical view ]
    SUPFAMi SSF48403. SSF48403. 1 hit.
    TIGRFAMsi TIGR00870. trp. 1 hit.
    PROSITEi PS50297. ANK_REP_REGION. 1 hit.
    PS50088. ANK_REPEAT. 2 hits.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Molecular cloning, tissue distribution, and chromosomal mapping of the human epithelial calcium channel (ECAC1)."
      Mueller D., Hoenderop J.G., Meij I.C., van den Heuvel L.P.J., Knoers N.V., den Hollander A.I., Eggert P., Garcia-Nieto V., Claverie-Martin F., Bindels R.J.M.
      Genomics 67:48-53(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY.
    2. "Structural conservation of the genes encoding CaT1, CaT2, and related cation channels."
      Peng J.-B., Brown E.M., Hediger M.A.
      Genomics 76:99-109(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], FUNCTION, TISSUE SPECIFICITY.
    3. Kelsell R.E.
      Submitted (MAY-2002) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT HIS-154.
    4. SeattleSNPs variation discovery resource
      Submitted (DEC-2002) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS VAL-8; HIS-154; THR-563 AND PHE-712.
    5. "Human chromosome 7: DNA sequence and biology."
      Scherer S.W., Cheung J., MacDonald J.R., Osborne L.R., Nakabayashi K., Herbrick J.-A., Carson A.R., Parker-Katiraee L., Skaug J., Khaja R., Zhang J., Hudek A.K., Li M., Haddad M., Duggan G.E., Fernandez B.A., Kanematsu E., Gentles S.
      , Christopoulos C.C., Choufani S., Kwasnicka D., Zheng X.H., Lai Z., Nusskern D.R., Zhang Q., Gu Z., Lu F., Zeesman S., Nowaczyk M.J., Teshima I., Chitayat D., Shuman C., Weksberg R., Zackai E.H., Grebe T.A., Cox S.R., Kirkpatrick S.J., Rahman N., Friedman J.M., Heng H.H.Q., Pelicci P.G., Lo-Coco F., Belloni E., Shaffer L.G., Pober B., Morton C.C., Gusella J.F., Bruns G.A.P., Korf B.R., Quade B.J., Ligon A.H., Ferguson H., Higgins A.W., Leach N.T., Herrick S.R., Lemyre E., Farra C.G., Kim H.-G., Summers A.M., Gripp K.W., Roberts W., Szatmari P., Winsor E.J.T., Grzeschik K.-H., Teebi A., Minassian B.A., Kere J., Armengol L., Pujana M.A., Estivill X., Wilson M.D., Koop B.F., Tosi S., Moore G.E., Boright A.P., Zlotorynski E., Kerem B., Kroisel P.M., Petek E., Oscier D.G., Mould S.J., Doehner H., Doehner K., Rommens J.M., Vincent J.B., Venter J.C., Li P.W., Mural R.J., Adams M.D., Tsui L.-C.
      Science 300:767-772(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    7. "WNK3 positively regulates epithelial calcium channels TRPV5 and TRPV6 via a kinase-dependent pathway."
      Zhang W., Na T., Peng J.B.
      Am. J. Physiol. 295:F1472-F1484(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: GLYCOSYLATION AT ASN-358, SUBCELLULAR LOCATION, ENZYME REGULATION, MUTAGENESIS OF ASN-358.
    8. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.

    Entry informationi

    Entry nameiTRPV5_HUMAN
    AccessioniPrimary (citable) accession number: Q9NQA5
    Secondary accession number(s): A4D2H7
    , Q8NDW5, Q8NDX7, Q8NDX8, Q96PM6
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: April 26, 2005
    Last sequence update: March 1, 2002
    Last modified: October 1, 2014
    This is version 118 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

    External Data

    Dasty 3