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A2A259

- PK2L1_MOUSE

UniProt

A2A259 - PK2L1_MOUSE

Protein

Polycystic kidney disease 2-like 1 protein

Gene

Pkd2l1

Organism
Mus musculus (Mouse)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 59 (01 Oct 2014)
      Sequence version 1 (20 Feb 2007)
      Previous versions | rss
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    Functioni

    Pore-forming subunit of a ciliary calcium channel that controls calcium concentration within primary cilia without affecting cytoplasmic calcium concentration. Forms a heterodimer with PKD1L1 in primary cilia and forms a calcium-permeant ciliary channel that regulates sonic hedgehog/SHH signaling and GLI2 transcription. May act as a sour taste receptor by forming a calcium channel with PKD1L3 in gustatory cells; however, its contribution to sour taste perception is unclear in vivo and may be indirect. May play a role in the perception of carbonation taste.8 Publications

    Enzyme regulationi

    The calcium channel is gated following an off-response property by acid: gated open after the removal of acid stimulus, but not during acid application.1 Publication

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Calcium bindingi643 – 65412PROSITE-ProRule annotationAdd
    BLAST

    GO - Molecular functioni

    1. calcium-activated potassium channel activity Source: Ensembl
    2. calcium channel activity Source: UniProtKB
    3. calcium ion binding Source: BHF-UCL
    4. cation channel activity Source: MGI
    5. identical protein binding Source: BHF-UCL
    6. protein binding Source: BHF-UCL
    7. sodium channel activity Source: Ensembl

    GO - Biological processi

    1. cation transport Source: BHF-UCL
    2. cellular response to acidic pH Source: BHF-UCL
    3. detection of chemical stimulus involved in sensory perception of sour taste Source: BHF-UCL
    4. detection of mechanical stimulus Source: RefGenome
    5. protein homotrimerization Source: UniProtKB
    6. smoothened signaling pathway Source: UniProtKB

    Keywords - Molecular functioni

    Calcium channel, Ion channel

    Keywords - Biological processi

    Calcium transport, Ion transport, Transport

    Keywords - Ligandi

    Calcium

    Protein family/group databases

    TCDBi1.A.5.2.2. the polycystin cation channel (pcc) family.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Polycystic kidney disease 2-like 1 protein
    Alternative name(s):
    Polycystin-2 homolog
    Gene namesi
    Name:Pkd2l1
    Synonyms:Trpp3
    OrganismiMus musculus (Mouse)
    Taxonomic identifieri10090 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus
    ProteomesiUP000000589: Chromosome 19

    Organism-specific databases

    MGIiMGI:1352448. Pkd2l1.

    Subcellular locationi

    Cell projectioncilium membrane By similarity; Multi-pass membrane protein By similarity. Cell membrane; Multi-pass membrane protein. Endoplasmic reticulum
    Note: Interaction with PKD1 or PKD1L3 is required for localization to the cell membrane.

    GO - Cellular componenti

    1. calcium channel complex Source: UniProtKB
    2. ciliary membrane Source: UniProtKB-SubCell
    3. endoplasmic reticulum Source: MGI
    4. nonmotile primary cilium Source: UniProtKB
    5. plasma membrane Source: MGI

    Keywords - Cellular componenti

    Cell membrane, Cell projection, Cilium, Endoplasmic reticulum, Membrane

    Pathology & Biotechi

    Disruption phenotypei

    Intestinal malrotation in 50% of animals, while other organs do not show major organ laterality defects Intestinal malformations are associated with SHH pathway defects during early development (PubMed:24336288). Partial reduction of chorda tympani nerve response to sour stimuli, without affecting sweet, salty, bitter, and umami perception (PubMed:21625513).2 Publications

    Mutagenesis

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Mutagenesisi523 – 5231D → E: Little or no effect on calcium channel activity. 1 Publication
    Mutagenesisi523 – 5231D → N: Impaired calcium channel activity. 1 Publication
    Mutagenesisi525 – 5251D → N: Little or no effect on calcium channel activity. 1 Publication
    Mutagenesisi530 – 5301D → N: Little or no effect on calcium channel activity. 1 Publication
    Mutagenesisi568 – 5681K → A: Induces localization to the cell surface when expressed in absence of PKD1. 1 Publication
    Mutagenesisi576 – 5761D → A: Induces localization to the endoplasmic reticulum when expressed in absence of PKD1. 1 Publication

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 760760Polycystic kidney disease 2-like 1 proteinPRO_0000425551Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi177 – 1771N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi207 – 2071N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi241 – 2411N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi505 – 5051N-linked (GlcNAc...)Sequence Analysis

    Keywords - PTMi

    Glycoprotein

    Proteomic databases

    PRIDEiA2A259.

    Expressioni

    Tissue specificityi

    Expressed in all 4 taste areas in taste buds: circumvallate papillae, foliate papillae, fungiform papillae and palate. Expressed in cells distinct from those mediating sweet, umami and bitter taste (at protein level). Expressed in type III taste cells (at protein level).4 Publications

    Gene expression databases

    GenevestigatoriA2A259.

    Interactioni

    Subunit structurei

    Homotrimer; trimerization is independent of calcium-binding. Calcium channels are probably composed of 3 subunit of PKD2L1 and 1 subunit of some PKD1 protein (PKD1, PKD1L1, PKD1L2 or PKDL3). Interacts with PKD1L1; to form ciliary calcium channel. Interacts with PKD1L3, to form putative sour taste receptor. Interacts with PKD1. Interacts with GNB2L1; inhibits the channel activity possibly by impairing localization to the cell membrane.2 Publications

    Structurei

    3D structure databases

    ProteinModelPortaliA2A259.
    SMRiA2A259. Positions 597-672, 698-739.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 103103CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini125 – 313189ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini335 – 34713CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini369 – 38517ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini407 – 47670CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini498 – 53942ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini561 – 760200CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei104 – 12421HelicalSequence AnalysisAdd
    BLAST
    Transmembranei314 – 33421HelicalSequence AnalysisAdd
    BLAST
    Transmembranei348 – 36821HelicalSequence AnalysisAdd
    BLAST
    Transmembranei386 – 40621HelicalSequence AnalysisAdd
    BLAST
    Transmembranei477 – 49721HelicalSequence AnalysisAdd
    BLAST
    Transmembranei540 – 56021HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini630 – 66536EF-handPROSITE-ProRule annotationAdd
    BLAST

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni701 – 76060Required for protein homotrimerizationBy similarityAdd
    BLAST

    Coiled coil

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Coiled coili559 – 58022Sequence AnalysisAdd
    BLAST
    Coiled coili650 – 68233Sequence AnalysisAdd
    BLAST

    Motif

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Motifi195 – 20713Polycystin motifAdd
    BLAST

    Domaini

    The EF-hand domain probably mediates calcium-binding. It is not required for channel activation By similarity.By similarity

    Sequence similaritiesi

    Belongs to the polycystin family.Curated
    Contains 1 EF-hand domain.PROSITE-ProRule annotation

    Keywords - Domaini

    Coiled coil, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG325704.
    GeneTreeiENSGT00700000104221.
    HOGENOMiHOG000230858.
    HOVERGENiHBG014945.
    InParanoidiA2A259.
    KOiK04990.
    OMAiFSTFVKC.
    OrthoDBiEOG7N8ZTW.
    PhylomeDBiA2A259.
    TreeFamiTF316484.

    Family and domain databases

    Gene3Di1.10.238.10. 1 hit.
    InterProiIPR011992. EF-hand-dom_pair.
    IPR002048. EF_hand_dom.
    IPR013122. PKD1_2_channel.
    IPR003915. PKD_2.
    [Graphical view]
    PfamiPF08016. PKD_channel. 1 hit.
    [Graphical view]
    PRINTSiPR01433. POLYCYSTIN2.
    PROSITEiPS50222. EF_HAND_2. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    A2A259-1 [UniParc]FASTAAdd to Basket

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    MNSMESPKNQ ELQTLGNRAW DNPAYSDPPS PNRTLRICTV SSVALPETQP    50
    KKPEVRCQEK TQRTLVSSCC LHICRSIRGL WGTTLTENTA ENRELYVKTT 100
    LRELVVYIVF LVDICLLTYG MTSSSAYYYT KVMSELFLHT PSDSGVSFQT 150
    ISSMSDFWDF AQGPLLDSLY WTKWYNNQSL GRGSHSFIYY ENLLLGAPRL 200
    RQLRVRNDSC VVHEDFREDI LNCYDVYSPD KEDQLPFGPQ NGTAWTYHSQ 250
    NELGGSSHWG RLTSYSGGGY YLDLPGSRQA SAEALQGLQE GLWLDRGTRV 300
    VFIDFSVYNA NINLFCILRL VVEFPATGGT IPSWQIRTVK LIRYVNNWDF 350
    FIVGCEVVFC VFIFYYVVEE ILEIHLHRLR YLSSVWNILD LVVILLSIVA 400
    VGFHIFRTLE VNRLMGKLLQ QPDTYADFEF LAFWQTQYNN MNAVNLFFAW 450
    IKIFKYISFN KTMTQLSSTL ARCAKDILGF AIMFFIVFFA YAQLGYLLFG 500
    TQVENFSTFV KCIFTQFRII LGDFDYNAID NANRILGPVY FVTYVFFVFF 550
    VLLNMFLAII NDTYSEVKEE LAGQKDQLQL SDFLKQSYNK TLLRLRLRKE 600
    RVSDVQKVLK GGEPEIQFED FTSTLRELGH EEHEITAAFT RFDQDGDHIL 650
    DEEEQEQMRQ GLEEERVTLN AEIENLGRSV GHSPPGELGA EAARGQSWVS 700
    GEEFDMLTRR VLQLQCVLEG VVSQIDAVGS KLKMLERKGE LAPSPGMGEP 750
    AVWENLYNPS 760
    Length:760
    Mass (Da):87,234
    Last modified:February 20, 2007 - v1
    Checksum:i4C76777051CFC2EF
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti114 – 1141I → V in AAK58371. 1 PublicationCurated
    Sequence conflicti114 – 1141I → V in AAI16324. (PubMed:15489334)Curated
    Sequence conflicti114 – 1141I → V in AAI16298. (PubMed:15489334)Curated
    Sequence conflicti202 – 2032QL → HV in AAK58371. 1 PublicationCurated
    Sequence conflicti438 – 4381Y → D in AAK58371. 1 PublicationCurated
    Sequence conflicti482 – 4821I → V in AAK58371. 1 PublicationCurated
    Sequence conflicti756 – 7561L → P in AAI16324. (PubMed:15489334)Curated
    Sequence conflicti756 – 7561L → P in AAI16298. (PubMed:15489334)Curated

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB290927 mRNA. Translation: BAF45380.1.
    AF271381 mRNA. Translation: AAK58371.1.
    AC125101 Genomic DNA. No translation available.
    BC116297 mRNA. Translation: AAI16298.1.
    BC116323 mRNA. Translation: AAI16324.2.
    CCDSiCCDS29846.1.
    RefSeqiNP_852087.2. NM_181422.3.
    UniGeneiMm.308481.

    Genome annotation databases

    EnsembliENSMUST00000042026; ENSMUSP00000045675; ENSMUSG00000037578.
    GeneIDi329064.
    KEGGimmu:329064.
    UCSCiuc008hpm.2. mouse.

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB290927 mRNA. Translation: BAF45380.1 .
    AF271381 mRNA. Translation: AAK58371.1 .
    AC125101 Genomic DNA. No translation available.
    BC116297 mRNA. Translation: AAI16298.1 .
    BC116323 mRNA. Translation: AAI16324.2 .
    CCDSi CCDS29846.1.
    RefSeqi NP_852087.2. NM_181422.3.
    UniGenei Mm.308481.

    3D structure databases

    ProteinModelPortali A2A259.
    SMRi A2A259. Positions 597-672, 698-739.
    ModBasei Search...
    MobiDBi Search...

    Protein family/group databases

    TCDBi 1.A.5.2.2. the polycystin cation channel (pcc) family.

    Proteomic databases

    PRIDEi A2A259.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENSMUST00000042026 ; ENSMUSP00000045675 ; ENSMUSG00000037578 .
    GeneIDi 329064.
    KEGGi mmu:329064.
    UCSCi uc008hpm.2. mouse.

    Organism-specific databases

    CTDi 9033.
    MGIi MGI:1352448. Pkd2l1.

    Phylogenomic databases

    eggNOGi NOG325704.
    GeneTreei ENSGT00700000104221.
    HOGENOMi HOG000230858.
    HOVERGENi HBG014945.
    InParanoidi A2A259.
    KOi K04990.
    OMAi FSTFVKC.
    OrthoDBi EOG7N8ZTW.
    PhylomeDBi A2A259.
    TreeFami TF316484.

    Miscellaneous databases

    NextBioi 398558.
    PROi A2A259.
    SOURCEi Search...

    Gene expression databases

    Genevestigatori A2A259.

    Family and domain databases

    Gene3Di 1.10.238.10. 1 hit.
    InterProi IPR011992. EF-hand-dom_pair.
    IPR002048. EF_hand_dom.
    IPR013122. PKD1_2_channel.
    IPR003915. PKD_2.
    [Graphical view ]
    Pfami PF08016. PKD_channel. 1 hit.
    [Graphical view ]
    PRINTSi PR01433. POLYCYSTIN2.
    PROSITEi PS50222. EF_HAND_2. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Transient receptor potential family members PKD1L3 and PKD2L1 form a candidate sour taste receptor."
      Ishimaru Y., Inada H., Kubota M., Zhuang H., Tominaga M., Matsunami H.
      Proc. Natl. Acad. Sci. U.S.A. 103:12569-12574(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], FUNCTION, SUBCELLULAR LOCATION, INTERACTION WITH PKD1L3, TISSUE SPECIFICITY.
      Strain: C57BL/6.
    2. "Cloning and gene targeting of murine Pkdl gene."
      Guo L., Zhou J.
      Submitted (MAY-2000) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
      Strain: BALB/c.
      Tissue: Brain.
    3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
      Strain: C57BL/6J.
    4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    5. Cited for: FUNCTION, SUBCELLULAR LOCATION, INTERACTION WITH PKD1, MUTAGENESIS OF LYS-568 AND ASP-576.
    6. Cited for: FUNCTION, TISSUE SPECIFICITY.
    7. "The candidate sour taste receptor, PKD2L1, is expressed by type III taste cells in the mouse."
      Kataoka S., Yang R., Ishimaru Y., Matsunami H., Sevigny J., Kinnamon J.C., Finger T.E.
      Chem. Senses 33:243-254(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: TISSUE SPECIFICITY.
    8. Cited for: FUNCTION.
    9. "Activation of polycystic kidney disease-2-like 1 (PKD2L1)-PKD1L3 complex by acid in mouse taste cells."
      Kawaguchi H., Yamanaka A., Uchida K., Shibasaki K., Sokabe T., Maruyama Y., Yanagawa Y., Murakami S., Tominaga M.
      J. Biol. Chem. 285:17277-17281(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: ENZYME REGULATION.
    10. "A proton current drives action potentials in genetically identified sour taste cells."
      Chang R.B., Waters H., Liman E.R.
      Proc. Natl. Acad. Sci. U.S.A. 107:22320-22325(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION.
    11. "The single pore residue Asp523 in PKD2L1 determines Ca2+ permeation of the PKD1L3/PKD2L1 complex."
      Fujimoto C., Ishimaru Y., Katano Y., Misaka T., Yamasoba T., Asakura T., Abe K.
      Biochem. Biophys. Res. Commun. 404:946-951(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: SUBCELLULAR LOCATION, MUTAGENESIS OF ASP-523; ASP-525 AND ASP-530.
    12. Cited for: FUNCTION, TISSUE SPECIFICITY, DISRUPTION PHENOTYPE.
    13. "Primary cilia are specialized calcium signalling organelles."
      Delling M., DeCaen P.G., Doerner J.F., Febvay S., Clapham D.E.
      Nature 504:311-314(2013) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, DISRUPTION PHENOTYPE.
    14. "Direct recording and molecular identification of the calcium channel of primary cilia."
      DeCaen P.G., Delling M., Vien T.N., Clapham D.E.
      Nature 504:315-318(2013) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION.

    Entry informationi

    Entry nameiPK2L1_MOUSE
    AccessioniPrimary (citable) accession number: A2A259
    Secondary accession number(s): Q14B55, Q14B73, Q80ZH4
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: February 19, 2014
    Last sequence update: February 20, 2007
    Last modified: October 1, 2014
    This is version 59 of the entry and version 1 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program

    Miscellaneousi

    Caution

    Pkd1l3 and Pkd2l1 have been defined as sour taste receptor in gustatory cells based on a number of indirect evidences: Pkd2l1 is expressed in a subset of taste receptor cells distinct from those responsible for sweet, bitter and unami taste and genetic elimination of cells expressing Pkd2l1 reduces gustatory nerve responses to sour taste stimuli (PubMed:16891422, PubMed:16929298). However, a number of experiments have recently shown that the sour taste receptor activity is probably indirect: mice lacking Pkd2l1 only show partial defects in sour taste perception (PubMed:21625513). Moreover, the PKD1L3-PKD2L1 heteromer, when expressed in cells does not respond to acid stimuli used to evoke proton currents in taste cells (PubMed:21098668).4 Publications

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. MGD cross-references
      Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
    2. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3