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Q8TDX9

- PK1L1_HUMAN

UniProt

Q8TDX9 - PK1L1_HUMAN

Protein

Polycystic kidney disease protein 1-like 1

Gene

PKD1L1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 111 (01 Oct 2014)
      Sequence version 1 (01 Jun 2002)
      Previous versions | rss
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    Functioni

    Component of a ciliary calcium channel that controls calcium concentration within primary cilia without affecting cytoplasmic calcium concentration. Forms a heterodimer with PKD2L1 in primary cilia and forms a calcium-permeant ciliary channel that regulates sonic hedgehog/SHH signaling and GLI2 transcription. Does not constitute the pore-forming subunit. Also involved in left/right axis specification downstream of nodal flow: forms a complex with PKD2 in cilia to facilitate flow detection in left/right patterning.1 Publication

    GO - Molecular functioni

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

    GO - Biological processi

    1. detection of mechanical stimulus Source: RefGenome
    2. detection of nodal flow Source: BHF-UCL
    3. left/right axis specification Source: BHF-UCL
    4. single organismal cell-cell adhesion 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.5.1.3. the polycystin cation channel (pcc) family.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Polycystic kidney disease protein 1-like 1
    Alternative name(s):
    PC1-like 1 protein
    Polycystin-1L1
    Gene namesi
    Name:PKD1L1
    ORF Names:UNQ5785/PRO19563
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 7

    Organism-specific databases

    HGNCiHGNC:18053. PKD1L1.

    Subcellular locationi

    Cell projectioncilium membrane 1 Publication; Multi-pass membrane protein 1 Publication

    GO - Cellular componenti

    1. calcium channel complex Source: UniProtKB
    2. ciliary membrane Source: UniProtKB-SubCell
    3. cilium Source: BHF-UCL
    4. membrane Source: UniProtKB
    5. nonmotile primary cilium Source: UniProtKB

    Keywords - Cellular componenti

    Cell membrane, Cell projection, Cilium, Membrane

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA38282.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 28492849Polycystic kidney disease protein 1-like 1PRO_0000164358Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi8 – 81N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi295 – 2951N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi338 – 3381N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi376 – 3761N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi447 – 4471N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi482 – 4821N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi514 – 5141N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi605 – 6051N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi657 – 6571N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi751 – 7511N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi875 – 8751N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi926 – 9261N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi937 – 9371N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi1233 – 12331N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi1301 – 13011N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi1306 – 13061N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi1572 – 15721N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi1681 – 16811N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi1716 – 17161N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi2426 – 24261N-linked (GlcNAc...)Sequence Analysis

    Keywords - PTMi

    Glycoprotein

    Proteomic databases

    PaxDbiQ8TDX9.
    PRIDEiQ8TDX9.

    PTM databases

    PhosphoSiteiQ8TDX9.

    Expressioni

    Tissue specificityi

    Detected in testis and in fetal and adult heart.

    Gene expression databases

    BgeeiQ8TDX9.
    CleanExiHS_PKD1L1.
    GenevestigatoriQ8TDX9.

    Organism-specific databases

    HPAiHPA020422.
    HPA022424.

    Interactioni

    Subunit structurei

    Heterodimer; heterodimerizes with PKD2 proteins to form a calcium channel. Interacts with PKD2L1; to form ciliary calcium channel. Interacts with PKD2.1 Publication

    Protein-protein interaction databases

    MINTiMINT-5002126.
    STRINGi9606.ENSP00000289672.

    Structurei

    3D structure databases

    ProteinModelPortaliQ8TDX9.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 17481748ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini1770 – 1956187CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini1978 – 199215ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini2014 – 2135122CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini2157 – 217418ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini2196 – 228186CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini2303 – 2522220ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini2544 – 256219CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini2584 – 261633ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini2638 – 26469CytoplasmicSequence Analysis
    Topological domaini2668 – 271144ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini2733 – 2849117CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei1749 – 176921HelicalSequence AnalysisAdd
    BLAST
    Transmembranei1957 – 197721HelicalSequence AnalysisAdd
    BLAST
    Transmembranei1993 – 201321HelicalSequence AnalysisAdd
    BLAST
    Transmembranei2136 – 215621HelicalSequence AnalysisAdd
    BLAST
    Transmembranei2175 – 219521HelicalSequence AnalysisAdd
    BLAST
    Transmembranei2282 – 230221HelicalSequence AnalysisAdd
    BLAST
    Transmembranei2523 – 254321HelicalSequence AnalysisAdd
    BLAST
    Transmembranei2563 – 258321HelicalSequence AnalysisAdd
    BLAST
    Transmembranei2617 – 263721HelicalSequence AnalysisAdd
    BLAST
    Transmembranei2647 – 266721HelicalSequence AnalysisAdd
    BLAST
    Transmembranei2712 – 273221HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini508 – 59083PKD 1PROSITE-ProRule annotationAdd
    BLAST
    Domaini592 – 67382PKD 2PROSITE-ProRule annotationAdd
    BLAST
    Domaini674 – 1571898REJPROSITE-ProRule annotationAdd
    BLAST
    Domaini1688 – 173447GPSAdd
    BLAST
    Domaini1796 – 1913118PLATPROSITE-ProRule annotationAdd
    BLAST

    Sequence similaritiesi

    Belongs to the polycystin family.Curated
    Contains 1 GPS domain.Curated
    Contains 2 PKD domains.PROSITE-ProRule annotation
    Contains 1 PLAT domain.PROSITE-ProRule annotation
    Contains 1 REJ domain.PROSITE-ProRule annotation

    Keywords - Domaini

    Repeat, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG235534.
    HOGENOMiHOG000115551.
    HOVERGENiHBG053602.
    InParanoidiQ8TDX9.
    KOiK04987.
    OMAiHTFILSA.
    OrthoDBiEOG7WHH8K.
    PhylomeDBiQ8TDX9.
    TreeFamiTF316484.

    Family and domain databases

    Gene3Di2.60.40.670. 1 hit.
    2.60.60.20. 1 hit.
    InterProiIPR008976. Lipase_LipOase.
    IPR022409. PKD/Chitinase_dom.
    IPR002859. PKD/REJ-like.
    IPR013122. PKD1_2_channel.
    IPR000601. PKD_dom.
    IPR001024. PLAT/LH2_dom.
    IPR014010. REJ-like.
    [Graphical view]
    PfamiPF00801. PKD. 1 hit.
    PF08016. PKD_channel. 1 hit.
    PF01477. PLAT. 1 hit.
    PF02010. REJ. 1 hit.
    [Graphical view]
    SMARTiSM00089. PKD. 2 hits.
    [Graphical view]
    SUPFAMiSSF49299. SSF49299. 1 hit.
    SSF49723. SSF49723. 1 hit.
    PROSITEiPS50093. PKD. 1 hit.
    PS50095. PLAT. 1 hit.
    PS51111. REJ. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q8TDX9-1) [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

    MAEEAAQNIS DDQERCLQAA CCLSFGGELS VSTDKSWGLH LCSCSPPGGG     50
    LWVEVYANHV LLMSDGKCGC PWCALNGKAE DRESQSPSSS ASRQKNIWKT 100
    TSEAALSVVN EKTQAVVNEK TQAPLDCDNS ADRIPHKPFI IIARAWSSGG 150
    PRFHHRRLCA TGTADSTFSA LLQLQGTTSA AAPCSLKMEA SCCVLRLLCC 200
    AEDVATGLLP GTVTMETPTK VARPTQTSSQ RVPLWPISHF PTSPRSSHGL 250
    PPGIPRTPSF TASQSGSEIL YPPTQHPPVA ILARNSDNFM NPVLNCSLEV 300
    EARAPPNLGF RVHMASGEAL CLMMDFGDSS GVEMRLHNMS EAMAVTAYHQ 350
    YSKGIFFHLL HFQLDMSTYK EAETQNTTLN VYLCQSENSC LEDSDPSNLG 400
    YELISAFVTK GVYMLKAVIY NEFHGTEVEL GPYYVEIGHE AVSAFMNSSS 450
    VHEDEVLVFA DSQVNQKSTV VIHHFPSIPS YNVSFISQTQ VGDSQAWHSM 500
    TVWYKMQSVS VYTNGTVFAT DTDITFTAVT KETIPLEFEW YFGEDPPVRT 550
    TSRSIKKRLS IPQWYRVMVK ASNRMSSVVS EPHVIRVQKK IVANRLTSPS 600
    SALVNASVAF ECWINFGTDV AYLWDFGDGT VSLGSSSSSH VYSREGEFTV 650
    EVLAFNNVSA STLRQQLFIV CEPCQPPLVK NMGPGKVQIW RSQPVRLGVT 700
    FEAAVFCDIS QGLSYTWNLM DSEGLPVSLP AAVDTHRQTL ILPSHTLEYG 750
    NYTALAKVQI EGSVVYSNYC VGLEVRAQAP VSVISEGTHL FFSRTTSSPI 800
    VLRGTQSFDP DDPGATLRYH WECATAGSPA HPCFDSSTAH QLDAAAPTVS 850
    FEAQWLSDSY DQFLVMLRVS SGGRNSSETR VFLSPYPDSA FRFVHISWVS 900
    FKDTFVNWND ELSLQAMCED CSEIPNLSYS WDLFLVNATE KNRIEVPFCR 950
    VVGLLGSLGL GAISESSQLN LLPTEPGTAD PDATTTPFSR EPSPVTLGQP 1000
    ATSAPRGTPT EPMTGVYWIP PAGDSAVLGE APEEGSLDLE PGPQSKGSLM 1050
    TGRSERSQPT HSPDPHLSDF EAYYSDIQEA IPSGGRQPAK DTSFPGSGPS 1100
    LSAEESPGDG DNLVDPSLSA GRAEPVLMID WPKALLGRAV FQGYSSSGIT 1150
    EQTVTIKPYS LSSGETYVLQ VSVASKHGLL GKAQLYLTVN PAPRDMACQV 1200
    QPHHGLEAHT VFSVFCMSGK PDFHYEFSYQ IGNTSKHTLY HGRDTQYYFV 1250
    LPAGEHLDNY KVMVSTEITD GKGSKVQPCT VVVTVLPRYH GNDCLGEDLY 1300
    NSSLKNLSTL QLMGSYTEIR NYITVITRIL SRLSKEDKTA SCNQWSRIQD 1350
    ALISSVCRLA FVDQEEMIGS VLMLRDLVSF SNKLGFMSAV LILKYTRALL 1400
    AQGQFSGPFV IDKGVRLELI GLISRVWEVS EQENSKEEVY RHEEGITVIS 1450
    DLLLGCLSLN HVSTGQMEFR TLLHYNLQSS VQSLGSVQVH LPGDLAGHSP 1500
    AGAETQSPCY ISQLILFKKN PYPGSQAPGQ IGGVVGLNLY TCSSRRPINR 1550
    QWLRKPVMVE FGEEDGLDNR RNKTTFVLLR DKVNLHQFTE LSENPQESLQ 1600
    IEIEFSKPVT RAFPVMLLVR FSEKPTPSDF LVKQIYFWDE SIVQIYIPAA 1650
    SQKDASVGYL SLLDADYDRK PPNRYLAKAV NYTVHFQWIR CLFWDKREWK 1700
    SERFSPQPGT SPEKVNCSYH RLAAFALLRR KLKASFEVSD ISKLQSHPEN 1750
    LLPSIFIMGS VILYGFLVAK SRQVDHHEKK KAGYIFLQEA SLPGHQLYAV 1800
    VIDTGFRAPA RLTSKVYIVL CGDNGLSETK ELSCPEKPLF ERNSRHTFIL 1850
    SAPAQLGLLR KIRLWHDSRG PSPGWFISHV MVKELHTGQG WFFPAQCWLS 1900
    AGRHDGRVER ELTCLQGGLG FRKLFYCKFT EYLEDFHVWL SVYSRPSSSR 1950
    YLHTPRLTVS FSLLCVYACL TALVAAGGQE QPHLDVSPTL GSFRVGLLCT 2000
    LLASPGAQLL SLLFRLSKEA PGSARVEPHS PLRGGAQTEA PHGPNSWGRI 2050
    PDAQEPRKQP ASAILSGSGR AQRKAASDNG TACPAPKLQV HGADHSRTSL 2100
    MGKSHCCPPH TQAPSSGLEG LMPQWSRALQ PWWSSAVWAI CGTASLACSL 2150
    GTGFLAYRFG QEQCVQWLHL LSLSVVCCIF ITQPLMVCLM ALGFAWKRRA 2200
    DNHFFTESLC EATRDLDSEL AERSWTRLPF SSSCSIPDCA GEVEKVLAAR 2250
    QQARHLRWAH PPSKAQLRGT RQRMRRESRT RAALRDISMD ILMLLLLLCV 2300
    IYGRFSQDEY SLNQAIRKEF TRNARNCLGG LRNIADWWDW SLTTLLDGLY 2350
    PGGTPSARVP GAQPGALGGK CYLIGSSVIR QLKVFPRHLC KPPRPFSALI 2400
    EDSIPTCSPE VGGPENPYLI DPENQNVTLN GPGGCGTRED CVLSLGRTRT 2450
    EAHTALSRLR ASMWIDRSTR AVSVHFTLYN PPTQLFTSVS LRVEILPTGS 2500
    LVPSSLVESF SIFRSDSALQ YHLMLPQLVF LALSLIHLCV QLYRMMDKGV 2550
    LSYWRKPRNW LELSVVGVSL TYYAVSGHLV TLAGDVTNQF HRGLCRAFMD 2600
    LTLMASWNQR ARWLRGILLF LFTLKCVYLP GIQNTMASCS SMMRHSLPSI 2650
    FVAGLVGALM LAALSHLHRF LLSMWVLPPG TFTDAFPGLL FHFPRRSQKD 2700
    CLLGLSKSDQ RAMACYFGIL LIVSATLCFG MLRGFLMTLP QKRKSFQSKS 2750
    FVRLKDVTAY MWEKVLTFLR LETPKLEEAE MVENHNYYLD EFANLLDELL 2800
    MKINGLSDSL QLPLLEKTSN NTGEARTEES PLVDISSYQA AEPADIKDF 2849

    Note: No experimental confirmation available.

    Length:2,849
    Mass (Da):315,435
    Last modified:June 1, 2002 - v1
    Checksum:iA0E60E88E7DDAA75
    GO
    Isoform 2 (identifier: Q8TDX9-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         2563-2573: LSVVGVSLTYY → VASLVSFSFEK
         2574-2849: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:2,573
    Mass (Da):284,308
    Checksum:i2009B3589823C438
    GO

    Sequence cautioni

    The sequence AAQ89117.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti312 – 3121V → F.
    Corresponds to variant rs2686817 [ dbSNP | Ensembl ].
    VAR_024566
    Natural varianti812 – 8121D → N.
    Corresponds to variant rs17131915 [ dbSNP | Ensembl ].
    VAR_050552
    Natural varianti879 – 8791T → A.
    Corresponds to variant rs11972142 [ dbSNP | Ensembl ].
    VAR_050553
    Natural varianti894 – 8941V → I.
    Corresponds to variant rs56100904 [ dbSNP | Ensembl ].
    VAR_061522
    Natural varianti906 – 9061V → I.1 Publication
    VAR_065825
    Natural varianti1053 – 10531R → P.
    Corresponds to variant rs10274334 [ dbSNP | Ensembl ].
    VAR_024567
    Natural varianti1272 – 12721K → E.
    Corresponds to variant rs1470859 [ dbSNP | Ensembl ].
    VAR_024568
    Natural varianti2057 – 20571R → H.
    Corresponds to variant rs17131834 [ dbSNP | Ensembl ].
    VAR_061523
    Natural varianti2410 – 24101E → K.
    Corresponds to variant rs2290386 [ dbSNP | Ensembl ].
    VAR_021944
    Natural varianti2603 – 26031L → F.
    Corresponds to variant rs59848490 [ dbSNP | Ensembl ].
    VAR_061524
    Natural varianti2685 – 26851A → T.
    Corresponds to variant rs13231277 [ dbSNP | Ensembl ].
    VAR_050554

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei2563 – 257311LSVVGVSLTYY → VASLVSFSFEK in isoform 2. 1 PublicationVSP_013215Add
    BLAST
    Alternative sequencei2574 – 2849276Missing in isoform 2. 1 PublicationVSP_013216Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB061683 mRNA. Translation: BAB85807.1.
    AY358757 mRNA. Translation: AAQ89117.1. Different initiation.
    CCDSiCCDS34633.1. [Q8TDX9-1]
    RefSeqiNP_612152.1. NM_138295.3. [Q8TDX9-1]
    UniGeneiHs.195979.

    Genome annotation databases

    EnsembliENST00000289672; ENSP00000289672; ENSG00000158683. [Q8TDX9-1]
    GeneIDi168507.
    KEGGihsa:168507.
    UCSCiuc003tny.2. human. [Q8TDX9-1]

    Polymorphism databases

    DMDMi23821932.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB061683 mRNA. Translation: BAB85807.1 .
    AY358757 mRNA. Translation: AAQ89117.1 . Different initiation.
    CCDSi CCDS34633.1. [Q8TDX9-1 ]
    RefSeqi NP_612152.1. NM_138295.3. [Q8TDX9-1 ]
    UniGenei Hs.195979.

    3D structure databases

    ProteinModelPortali Q8TDX9.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    MINTi MINT-5002126.
    STRINGi 9606.ENSP00000289672.

    Protein family/group databases

    TCDBi 1.A.5.1.3. the polycystin cation channel (pcc) family.

    PTM databases

    PhosphoSitei Q8TDX9.

    Polymorphism databases

    DMDMi 23821932.

    Proteomic databases

    PaxDbi Q8TDX9.
    PRIDEi Q8TDX9.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000289672 ; ENSP00000289672 ; ENSG00000158683 . [Q8TDX9-1 ]
    GeneIDi 168507.
    KEGGi hsa:168507.
    UCSCi uc003tny.2. human. [Q8TDX9-1 ]

    Organism-specific databases

    CTDi 168507.
    GeneCardsi GC07M047780.
    HGNCi HGNC:18053. PKD1L1.
    HPAi HPA020422.
    HPA022424.
    MIMi 609721. gene.
    neXtProti NX_Q8TDX9.
    PharmGKBi PA38282.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG235534.
    HOGENOMi HOG000115551.
    HOVERGENi HBG053602.
    InParanoidi Q8TDX9.
    KOi K04987.
    OMAi HTFILSA.
    OrthoDBi EOG7WHH8K.
    PhylomeDBi Q8TDX9.
    TreeFami TF316484.

    Miscellaneous databases

    GenomeRNAii 168507.
    NextBioi 88750.
    PROi Q8TDX9.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q8TDX9.
    CleanExi HS_PKD1L1.
    Genevestigatori Q8TDX9.

    Family and domain databases

    Gene3Di 2.60.40.670. 1 hit.
    2.60.60.20. 1 hit.
    InterProi IPR008976. Lipase_LipOase.
    IPR022409. PKD/Chitinase_dom.
    IPR002859. PKD/REJ-like.
    IPR013122. PKD1_2_channel.
    IPR000601. PKD_dom.
    IPR001024. PLAT/LH2_dom.
    IPR014010. REJ-like.
    [Graphical view ]
    Pfami PF00801. PKD. 1 hit.
    PF08016. PKD_channel. 1 hit.
    PF01477. PLAT. 1 hit.
    PF02010. REJ. 1 hit.
    [Graphical view ]
    SMARTi SM00089. PKD. 2 hits.
    [Graphical view ]
    SUPFAMi SSF49299. SSF49299. 1 hit.
    SSF49723. SSF49723. 1 hit.
    PROSITEi PS50093. PKD. 1 hit.
    PS50095. PLAT. 1 hit.
    PS51111. REJ. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "The sequence, expression, and chromosomal localization of a novel polycystic kidney disease 1-like gene, PKD1L1, in human."
      Yuasa T., Venugopal B., Weremowicz S., Morton C.C., Guo L., Zhou J.
      Genomics 79:376-386(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
      Tissue: Testis.
    2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 2247-2573 (ISOFORM 2).
    3. "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, INTERACTION WITH PKD2L1, SUBCELLULAR LOCATION.
    4. "BMPER mutation in diaphanospondylodysostosis identified by ancestral autozygosity mapping and targeted high-throughput sequencing."
      Funari V.A., Krakow D., Nevarez L., Chen Z., Funari T.L., Vatanavicharn N., Wilcox W.R., Rimoin D.L., Nelson S.F., Cohn D.H.
      Am. J. Hum. Genet. 87:532-537(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT ILE-906.

    Entry informationi

    Entry nameiPK1L1_HUMAN
    AccessioniPrimary (citable) accession number: Q8TDX9
    Secondary accession number(s): Q6UWK1
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: October 10, 2002
    Last sequence update: June 1, 2002
    Last modified: October 1, 2014
    This is version 111 of the entry and version 1 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