Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Basket 0
(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

Q7Z442

- PK1L2_HUMAN

UniProt

Q7Z442 - PK1L2_HUMAN

Protein

Polycystic kidney disease protein 1-like 2

Gene

PKD1L2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
    • BLAST
    • Align
    • Format
    • Add to basket
    • History
      Entry version 103 (01 Oct 2014)
      Sequence version 4 (11 Jan 2011)
      Previous versions | rss
    • Help video
    • Feedback
    • Comment

    Functioni

    May function as an ion-channel regulator. May function as a G-protein-coupled receptor.1 Publication

    GO - Molecular functioni

    1. calcium ion binding Source: InterPro
    2. carbohydrate binding Source: InterPro
    3. cation channel activity Source: Ensembl
    4. sour taste receptor activity Source: Ensembl

    GO - Biological processi

    1. cellular response to acidic pH Source: Ensembl
    2. neuropeptide signaling pathway Source: InterPro

    Keywords - Molecular functioni

    Ion channel

    Keywords - Biological processi

    Ion transport, Transport

    Keywords - Ligandi

    Lectin

    Protein family/group databases

    MEROPSiT06.003.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Polycystic kidney disease protein 1-like 2
    Alternative name(s):
    PC1-like 2 protein
    Polycystin-1L2
    Gene namesi
    Name:PKD1L2
    Synonyms:KIAA1879, PC1L2
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 16

    Organism-specific databases

    HGNCiHGNC:21715. PKD1L2.

    Subcellular locationi

    GO - Cellular componenti

    1. cell surface Source: Ensembl
    2. integral component of membrane Source: UniProtKB-KW

    Keywords - Cellular componenti

    Membrane

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA134874396.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 1717Sequence AnalysisAdd
    BLAST
    Chaini18 – 24592442Polycystic kidney disease protein 1-like 2PRO_0000322576Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Disulfide bondi56 ↔ 152By similarity
    Glycosylationi96 – 961N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi110 – 1101N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi128 ↔ 144By similarity
    Glycosylationi268 – 2681N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi307 – 3071N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi441 – 4411N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi536 – 5361N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi1176 – 11761N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi1186 – 11861N-linked (GlcNAc...)Sequence Analysis

    Keywords - PTMi

    Disulfide bond, Glycoprotein

    Proteomic databases

    PaxDbiQ7Z442.
    PRIDEiQ7Z442.

    PTM databases

    PhosphoSiteiQ7Z442.

    Expressioni

    Tissue specificityi

    Expressed in all tissues tested including brain, placenta, mammary gland, testis, lung and liver. Highest expression in skeletal muscle. Isoform 2 is expressed in heart and kidney.1 Publication

    Developmental stagei

    Expressed in fetal heart.

    Gene expression databases

    BgeeiQ7Z442.
    CleanExiHS_PKD1L2.
    GenevestigatoriQ7Z442.

    Interactioni

    Subunit structurei

    May interact via its C-terminus with GNAS and GNAI1.1 Publication

    Protein-protein interaction databases

    STRINGi9606.ENSP00000337397.

    Structurei

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini18 – 13441327ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini1366 – 1552187CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini1574 – 159421ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini1616 – 1818203CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini1840 – 186526ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini1887 – 194357CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini1965 – 2143179ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini2167 – 218216CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini2204 – 221815ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini2240 – 227031CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini2292 – 231221ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini2334 – 237744CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini2399 – 245961ExtracellularSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei1345 – 136521HelicalSequence AnalysisAdd
    BLAST
    Transmembranei1553 – 157321HelicalSequence AnalysisAdd
    BLAST
    Transmembranei1595 – 161521HelicalSequence AnalysisAdd
    BLAST
    Transmembranei1819 – 183921HelicalSequence AnalysisAdd
    BLAST
    Transmembranei1866 – 188621HelicalSequence AnalysisAdd
    BLAST
    Transmembranei1944 – 196421HelicalSequence AnalysisAdd
    BLAST
    Transmembranei2144 – 216623HelicalSequence AnalysisAdd
    BLAST
    Transmembranei2183 – 220321HelicalSequence AnalysisAdd
    BLAST
    Transmembranei2219 – 223921HelicalSequence AnalysisAdd
    BLAST
    Transmembranei2271 – 229121HelicalSequence AnalysisAdd
    BLAST
    Transmembranei2313 – 233321HelicalSequence AnalysisAdd
    BLAST
    Transmembranei2378 – 239821HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini35 – 153119C-type lectinPROSITE-ProRule annotationAdd
    BLAST
    Domaini161 – 25292SUEL-type lectinPROSITE-ProRule annotationAdd
    BLAST
    Domaini422 – 1123702REJPROSITE-ProRule annotationAdd
    BLAST
    Domaini1279 – 132850GPSPROSITE-ProRule annotationAdd
    BLAST
    Domaini1390 – 1507118PLATPROSITE-ProRule annotationAdd
    BLAST

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni2340 – 236223Channel pore-regionAdd
    BLAST
    Regioni2379 – 245981Interaction with GNAS and GNAI1Add
    BLAST

    Motif

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Motifi2024 – 203512Polycystin motifAdd
    BLAST
    Motifi2119 – 212911Polycystin motifAdd
    BLAST

    Sequence similaritiesi

    Belongs to the polycystin family.Curated
    Contains 1 C-type lectin domain.PROSITE-ProRule annotation
    Contains 1 GPS domain.PROSITE-ProRule annotation
    Contains 1 PLAT domain.PROSITE-ProRule annotation
    Contains 1 REJ domain.PROSITE-ProRule annotation
    Contains 1 SUEL-type lectin domain.PROSITE-ProRule annotation

    Keywords - Domaini

    Signal, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG12793.
    HOVERGENiHBG108252.
    KOiK04988.
    OMAiARGNIMK.
    OrthoDBiEOG7BW0HJ.
    PhylomeDBiQ7Z442.

    Family and domain databases

    Gene3Di2.60.60.20. 1 hit.
    3.10.100.10. 1 hit.
    InterProiIPR001304. C-type_lectin.
    IPR016186. C-type_lectin-like.
    IPR016187. C-type_lectin_fold.
    IPR000203. GPS.
    IPR000922. Lectin_gal-bd_dom.
    IPR008976. Lipase_LipOase.
    IPR002859. PKD/REJ-like.
    IPR013122. PKD1_2_channel.
    IPR003915. PKD_2.
    IPR001024. PLAT/LH2_dom.
    IPR014010. REJ-like.
    [Graphical view]
    PfamiPF02140. Gal_Lectin. 1 hit.
    PF01825. GPS. 1 hit.
    PF00059. Lectin_C. 1 hit.
    PF08016. PKD_channel. 1 hit.
    PF01477. PLAT. 1 hit.
    PF02010. REJ. 1 hit.
    [Graphical view]
    PRINTSiPR01433. POLYCYSTIN2.
    SMARTiSM00034. CLECT. 1 hit.
    SM00303. GPS. 1 hit.
    SM00308. LH2. 1 hit.
    [Graphical view]
    SUPFAMiSSF49723. SSF49723. 1 hit.
    SSF56436. SSF56436. 1 hit.
    PROSITEiPS50041. C_TYPE_LECTIN_2. 1 hit.
    PS50221. GPS. 1 hit.
    PS50095. PLAT. 1 hit.
    PS51111. REJ. 1 hit.
    PS50228. SUEL_LECTIN. 1 hit.
    [Graphical view]

    Sequences (5)i

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    This entry describes 5 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q7Z442-1) [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

    MSAVGLVLLV LALRLRATTV KPEEGSFCSN SQVAFRDACY EFVPLGRTFR     50
    DAQSWCEGQG GHLVFIQDEG TQWFLQKHIS QDREWWIGLT WNLARNGTTE 100
    GPGTWLDTSN VTYSNWHGGQ AAAAPDTCGH IGRGPSSEWV TSDCAQTFAF 150
    MCEFRVGQSL ACEGLNATVH CGLGQVIQVQ DAVYGRQNPH FCTQDAGRPS 200
    DLEQGCSWAN VKEEVAGQCQ ELQSCQVAAD ETYFGNLCPT QGSYLWVQYQ 250
    CREALQLMVS SESFIFDNVT ISLTWLLSPY IGNLSCIIST GDSHTFDPYN 300
    PPSVSSNVTH QFTSPGEFTV FAECTTSEWH VTAQRQVTVR DKMETLSVTA 350
    CSGLSQSGAG PLCQAVFGDP LWIQVELDGG TGVTYTVLLG DITLAESTTQ 400
    KGSLPYNLIL DRETQKLMGP GRHRLEIQAT GNTTTSTISR NITVHLVELL 450
    SGLQASWASD HLELGQDLLI TISLAQGTPE ELTFEVAGLN ATFSHEQVSF 500
    GEPFGICRLA VPVEGTFLVT MLVRNAFSNL SLEIGNITIT APSGLQEPSG 550
    MNAEGKSKDK GDMEVYIQPG PYVDPFTTVT LGWPDNDKEL RFQWSCGSCW 600
    ALWSSCVERQ LLRTDQRELV VPASCLPPPD SAVTLRLAVL RGQELENRAE 650
    QCLYVSAPWE LRPRVSCERN CRPVNASKDI LLRVTMGEDS PVAMFSWYLD 700
    NTPTEQAEPL LDACRLRGFW PRSLTLLQSN TSTLLLNSSF LQSRGEVIRI 750
    RATALTRHAY GEDTYVISTV PPREVPACTI APEEGTVLTS FAIFCNASTA 800
    LGPLEFCFCL ESGSCLHCGP EPALPSVYLP LGEENNDFVL TVVISATNRA 850
    GDTQQTQAMA KVALGDTCVE DVAFQAAVSE KIPTALQGEG GPEQLLQLAK 900
    AVSSMLNQEH ESQGSGQSLS IDVRQKVREH VLGSLSAVTT GLEDVQRVQE 950
    LAEVLREVTC RSKELTPSAQ WEASLALQHA SEALLTVSAK ARPEDQRRQA 1000
    ATRDLFQAVG SVLEASLSNR PEEPAEASSS QIATVLRLLR VMEHVQTTLL 1050
    LGKLPGGLPA MLATPSISVY TNRIQPWSWQ GSSLRPDAAD SATFMLPAAS 1100
    SLSSLEGGQE PVDIKIMSFP KSPFPARSHF DVSGTVGGLR VTSPSGQLIP 1150
    VKNLSENIEI LLPRHSQRHS QPTVLNLTSP EALWVNVTSG EATLGIQLHW 1200
    RPDIALTLSL GYGYHPNKSS YDAQTHLVPM VAPDELPTWI LSPQDLRFGE 1250
    GVYYLTVVPE SDLEPAPGRD LTVGITTFLS HCVFWDEVQE TWDDSGCQVG 1300
    PRTSPYQTHC LCNHLTFFGS TFLVMSNAIN IHQTAELFAT FEDNPVVVTT 1350
    VGCLCVVYVL VVIWARRKDA QDQAKVKVTV LEDNDPFAQY HYLVTVYTGH 1400
    RRGAATSSKV TVTLYGLDGE REPHHLADPD TPVFERGAVD AFLLSTLFPL 1450
    GELRSLRLWH DNSGDRPSWY VSRVLVYDLV MDRKWYFLCN SWLSINVGDC 1500
    VLDKVFPVAT EQDRKQFSHL FFMKTSAGFQ DGHIWYSIFS RCARSSFTRV 1550
    QRVSCCFSLL LCTMLTSIMF WGVPKDPAEQ KMDLGKIEFT WQEVMIGLES 1600
    SILMFPINLL IVQIFQNTRP RVAKEQNTGK WDRGSPNLTP SPQPMEDGLL 1650
    TPEAVTKDVS RIVSSLFKAL KVPSPALGWD SVNLMDINSL LALVEDVIYP 1700
    QNTSGQVFWE EAKKREDPVT LTLGSSEMKE KSQCPKPKAA RSGPWKDSAY 1750
    RQCLYLQLEH VEQELRLVGP RGFSQPHSHA QALRQLQTLK GGLGVQPGTW 1800
    APAHASALQV SKPPQGLPWW CILVGWLLVA ATSGVAAFFT MLYGLHYGRA 1850
    SSLRWLISMA VSFVESMFVT QPLKVLGFAA FFALVLKRVD DEEDTVAPLP 1900
    GHLLGPDPYA LFRARRNSSR DVYQPPLTAA IEKMKTTHLK EQKAFALIRE 1950
    ILAYLGFLWM LLLVAYGQRD PSAYHLNRHL QHSFTRGFSG VLGFREFFKW 2000
    ANTTLVSNLY GHPPGFITDG NSKLVGSAQI RQVRVQESSC PLAQQPQAYL 2050
    NGCRAPYSLD AEDMADYGEG WNATTLSEWQ YQSQDQRQGY PIWGKLTVYR 2100
    GGGYVVPLGT DRQKHVKILR YLFDNTWLDA LTRAVFVEST VYNANVNLFC 2150
    IVTLTLETSA LGTFFTHAAL QSLRLYPFTD GWHPFVVAAE LIYFLFLLYY 2200
    MVVQGKRMSK ETWGYFCSKW NLLELAIILA SWSALAVFVK RAVLAERDLQ 2250
    RCRNHREEGI SFSETAAADA ALGYIIAFLV LLSTVKLWHL LRLNPKMNMI 2300
    TAALRRAWGD ISGFMIVILT MLLAYSIASN LIFGWKLRSY KTLFDAAETM 2350
    VSLQLGIFNY EEVLDYSPVL GSFLIGSCIV FMTFVVLNLF ISVILVAFSE 2400
    EQKYYQLSEE GEIVDLLLMK ILSFLGIKSK REEPGSSREQ PGSLSQTRHS 2450
    RPAQALPKD 2459
    Length:2,459
    Mass (Da):272,575
    Last modified:January 11, 2011 - v4
    Checksum:iA650C27B51715962
    GO
    Isoform 2 (identifier: Q7Z442-2) [UniParc]FASTAAdd to Basket

    Also known as: Long isoform

    The sequence of this isoform differs from the canonical sequence as follows:
         1-685: Missing.

    Show »
    Length:1,774
    Mass (Da):197,454
    Checksum:iA09FA86FF9883B17
    GO
    Isoform 3 (identifier: Q7Z442-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         971-991: WEASLALQHASEALLTVSAKA → GSCMGDSWEGAPPAAHVSHAR
         992-2459: Missing.

    Show »
    Length:991
    Mass (Da):107,943
    Checksum:iD0ED4E4407E96514
    GO
    Isoform 4 (identifier: Q7Z442-4) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-685: Missing.
         971-991: WEASLALQHASEALLTVSAKA → GSCMGDSWEGAPPAAHVSHAR
         992-2459: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:306
    Mass (Da):32,823
    Checksum:iD4A87793F6B42B31
    GO
    Isoform 6 (identifier: Q7Z442-6) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-685: Missing.
         754-812: Missing.
         928-984: REHVLGSLSA...LALQHASEAL → PVGSWGAPFI...SLVFWVSDIK
         985-2459: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:240
    Mass (Da):26,012
    Checksum:iC20F77C3BBD8C521
    GO

    Sequence cautioni

    The sequence BAB67772.1 differs from that shown. Reason: Intron retention.
    The sequence AAQ73173.1 differs from that shown. Reason: Frameshift at positions 2113 and 2117.
    The sequence BAC05222.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti783 – 7831E → G in BAC05222. (PubMed:14702039)Curated
    Sequence conflicti1421 – 14211R → S in AAO32796. (PubMed:12782129)Curated
    Sequence conflicti1774 – 17741S → P in BAB67772. (PubMed:11572484)Curated
    Sequence conflicti1776 – 17761P → H in BAB67772. (PubMed:11572484)Curated
    Sequence conflicti2049 – 20491Y → S in AAQ73173. (PubMed:15203210)Curated
    Sequence conflicti2078 – 20781E → A in AAQ73173. (PubMed:15203210)Curated
    Sequence conflicti2202 – 22021V → G in AAQ73173. (PubMed:15203210)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti20 – 201V → A.
    Corresponds to variant rs9924530 [ dbSNP | Ensembl ].
    VAR_039427
    Natural varianti73 – 731W → R.1 Publication
    Corresponds to variant rs9924371 [ dbSNP | Ensembl ].
    VAR_039428
    Natural varianti77 – 771K → N.1 Publication
    Corresponds to variant rs9934272 [ dbSNP | Ensembl ].
    VAR_039429
    Natural varianti120 – 1201Q → L.
    Corresponds to variant rs7191351 [ dbSNP | Ensembl ].
    VAR_039430
    Natural varianti129 – 1291G → D.
    Corresponds to variant rs7185774 [ dbSNP | Ensembl ].
    VAR_039431
    Natural varianti156 – 1561V → I.
    Corresponds to variant rs35528333 [ dbSNP | Ensembl ].
    VAR_039432
    Natural varianti162 – 1621C → S.
    Corresponds to variant rs35970134 [ dbSNP | Ensembl ].
    VAR_039433
    Natural varianti169 – 1691V → M.
    Corresponds to variant rs36099350 [ dbSNP | Ensembl ].
    VAR_039434
    Natural varianti173 – 1731L → S.
    Corresponds to variant rs8060294 [ dbSNP | Ensembl ].
    VAR_039435
    Natural varianti183 – 1831V → I.1 Publication
    Corresponds to variant rs12933806 [ dbSNP | Ensembl ].
    VAR_039436
    Natural varianti205 – 2051G → R.
    Corresponds to variant rs34719852 [ dbSNP | Ensembl ].
    VAR_039437
    Natural varianti221 – 2211E → G.
    Corresponds to variant rs6564838 [ dbSNP | Ensembl ].
    VAR_039438
    Natural varianti252 – 2521R → W.
    Corresponds to variant rs6420424 [ dbSNP | Ensembl ].
    VAR_039439
    Natural varianti301 – 3011P → A.1 Publication
    Corresponds to variant rs11150370 [ dbSNP | Ensembl ].
    VAR_039440
    Natural varianti407 – 4071N → S.
    Corresponds to variant rs9937169 [ dbSNP | Ensembl ].
    VAR_039441
    Natural varianti416 – 4161K → Q.
    Corresponds to variant rs7194871 [ dbSNP | Ensembl ].
    VAR_039442
    Natural varianti462 – 4621L → V.
    Corresponds to variant rs9934856 [ dbSNP | Ensembl ].
    VAR_039443
    Natural varianti512 – 5121P → L.
    Corresponds to variant rs7205673 [ dbSNP | Ensembl ].
    VAR_039444
    Natural varianti636 – 6361R → H.
    Corresponds to variant rs13339342 [ dbSNP | Ensembl ].
    VAR_039445
    Natural varianti711 – 7111L → P.4 Publications
    Corresponds to variant rs4889261 [ dbSNP | Ensembl ].
    VAR_039446
    Natural varianti785 – 7851G → C.
    Corresponds to variant rs9935113 [ dbSNP | Ensembl ].
    VAR_039447
    Natural varianti849 – 8491R → H.
    Corresponds to variant rs1869349 [ dbSNP | Ensembl ].
    VAR_039448
    Natural varianti863 – 8631A → V.2 Publications
    Corresponds to variant rs12596941 [ dbSNP | Ensembl ].
    VAR_039449
    Natural varianti919 – 9191L → M.
    Corresponds to variant rs745211 [ dbSNP | Ensembl ].
    VAR_039450
    Natural varianti998 – 9981R → C.
    Corresponds to variant rs34504526 [ dbSNP | Ensembl ].
    VAR_061525
    Natural varianti999 – 9991Q → H.
    Corresponds to variant rs35292101 [ dbSNP | Ensembl ].
    VAR_061526
    Natural varianti1036 – 10361L → P.
    Corresponds to variant rs12597040 [ dbSNP | Ensembl ].
    VAR_039451
    Natural varianti1042 – 10421M → V.
    Corresponds to variant rs12931227 [ dbSNP | Ensembl ].
    VAR_039452
    Natural varianti1048 – 10481T → A.
    Corresponds to variant rs12931217 [ dbSNP | Ensembl ].
    VAR_056705
    Natural varianti1081 – 10811G → V.
    Corresponds to variant rs16954794 [ dbSNP | Ensembl ].
    VAR_056706
    Natural varianti1251 – 12511G → W.
    Corresponds to variant rs734824 [ dbSNP | Ensembl ].
    VAR_056707
    Natural varianti1326 – 13261S → P.2 Publications
    Corresponds to variant rs1453324 [ dbSNP | Ensembl ].
    VAR_056708
    Natural varianti1330 – 13301N → D.2 Publications
    Corresponds to variant rs1453325 [ dbSNP | Ensembl ].
    VAR_061527
    Natural varianti1331 – 13311I → V.1 Publication
    Corresponds to variant rs9938333 [ dbSNP | Ensembl ].
    VAR_061528
    Natural varianti1335 – 13351A → D.
    Corresponds to variant rs1453326 [ dbSNP | Ensembl ].
    VAR_056709
    Natural varianti1406 – 14061T → M.
    Corresponds to variant rs8050904 [ dbSNP | Ensembl ].
    VAR_056710
    Natural varianti1527 – 15271A → V.
    Corresponds to variant rs16954775 [ dbSNP | Ensembl ].
    VAR_056711
    Natural varianti1616 – 16161Q → R.
    Corresponds to variant rs9921827 [ dbSNP | Ensembl ].
    VAR_056712
    Natural varianti1645 – 16451M → V.
    Corresponds to variant rs9921748 [ dbSNP | Ensembl ].
    VAR_056713
    Natural varianti1665 – 16651S → Y.
    Corresponds to variant rs7192948 [ dbSNP | Ensembl ].
    VAR_056714
    Natural varianti1701 – 17011Q → H.
    Corresponds to variant rs7194136 [ dbSNP | Ensembl ].
    VAR_056715
    Natural varianti1739 – 17391A → V.
    Corresponds to variant rs35941327 [ dbSNP | Ensembl ].
    VAR_061529
    Natural varianti1848 – 18481G → R.
    Corresponds to variant rs4889244 [ dbSNP | Ensembl ].
    VAR_056716
    Natural varianti1867 – 18671M → V.1 Publication
    Corresponds to variant rs12918619 [ dbSNP | Ensembl ].
    VAR_056717
    Natural varianti2036 – 20361Q → R.1 Publication
    Corresponds to variant rs16954722 [ dbSNP | Ensembl ].
    VAR_056718
    Natural varianti2046 – 20461P → L.1 Publication
    Corresponds to variant rs7206183 [ dbSNP | Ensembl ].
    VAR_056719
    Natural varianti2055 – 20551A → T.1 Publication
    Corresponds to variant rs16954717 [ dbSNP | Ensembl ].
    VAR_056720
    Natural varianti2119 – 21191L → I.
    Corresponds to variant rs8050204 [ dbSNP | Ensembl ].
    VAR_059551
    Natural varianti2139 – 21391S → F.3 Publications
    Corresponds to variant rs4889241 [ dbSNP | Ensembl ].
    VAR_059552
    Natural varianti2209 – 22091S → R.2 Publications
    Corresponds to variant rs4889238 [ dbSNP | Ensembl ].
    VAR_061530
    Natural varianti2315 – 23151M → I.2 Publications
    Corresponds to variant rs8054182 [ dbSNP | Ensembl ].
    VAR_059553

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 685685Missing in isoform 2, isoform 4 and isoform 6. 3 PublicationsVSP_031942Add
    BLAST
    Alternative sequencei754 – 81259Missing in isoform 6. 1 PublicationVSP_031944Add
    BLAST
    Alternative sequencei928 – 98457REHVL…ASEAL → PVGSWGAPFIPFLWGPRVCV RPFGLWIKVHGSGEKPVVSP KRLTPPPSLVFWVSDIK in isoform 6. 1 PublicationVSP_031945Add
    BLAST
    Alternative sequencei971 – 99121WEASL…VSAKA → GSCMGDSWEGAPPAAHVSHA R in isoform 3 and isoform 4. 2 PublicationsVSP_031946Add
    BLAST
    Alternative sequencei985 – 24591475Missing in isoform 6. 1 PublicationVSP_031947Add
    BLAST
    Alternative sequencei992 – 24591468Missing in isoform 3 and isoform 4. 2 PublicationsVSP_031948Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY164483 mRNA. Translation: AAO32796.1.
    AY371495 mRNA. Translation: AAQ73173.1. Frameshift.
    AB067466 mRNA. Translation: BAB67772.1. Sequence problems.
    AK098052 mRNA. Translation: BAC05222.1. Different initiation.
    AK127266 mRNA. Translation: BAC86906.1.
    AK131378 mRNA. Translation: BAD18529.1. Sequence problems.
    AC092718 Genomic DNA. No translation available.
    AC131888 Genomic DNA. No translation available.
    BC004562 mRNA. Translation: AAH04562.1.
    BC014157 mRNA. Translation: AAH14157.1.
    CCDSiCCDS61998.1. [Q7Z442-2]
    CCDS61999.1. [Q7Z442-4]
    RefSeqiNP_001070248.1. NM_001076780.1. [Q7Z442-3]
    NP_001265352.1. NM_001278423.1. [Q7Z442-4]
    NP_001265354.1. NM_001278425.1.
    NP_443124.3. NM_052892.3.
    UniGeneiHs.413525.

    Genome annotation databases

    EnsembliENST00000337114; ENSP00000337397; ENSG00000166473. [Q7Z442-3]
    ENST00000527937; ENSP00000432818; ENSG00000166473. [Q7Z442-6]
    ENST00000531391; ENSP00000436309; ENSG00000166473. [Q7Z442-4]
    GeneIDi114780.
    KEGGihsa:114780.
    UCSCiuc002fgi.3. human. [Q7Z442-4]
    uc002fgj.3. human. [Q7Z442-3]
    uc002fgk.1. human. [Q7Z442-6]

    Polymorphism databases

    DMDMi317373538.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY164483 mRNA. Translation: AAO32796.1 .
    AY371495 mRNA. Translation: AAQ73173.1 . Frameshift.
    AB067466 mRNA. Translation: BAB67772.1 . Sequence problems.
    AK098052 mRNA. Translation: BAC05222.1 . Different initiation.
    AK127266 mRNA. Translation: BAC86906.1 .
    AK131378 mRNA. Translation: BAD18529.1 . Sequence problems.
    AC092718 Genomic DNA. No translation available.
    AC131888 Genomic DNA. No translation available.
    BC004562 mRNA. Translation: AAH04562.1 .
    BC014157 mRNA. Translation: AAH14157.1 .
    CCDSi CCDS61998.1. [Q7Z442-2 ]
    CCDS61999.1. [Q7Z442-4 ]
    RefSeqi NP_001070248.1. NM_001076780.1. [Q7Z442-3 ]
    NP_001265352.1. NM_001278423.1. [Q7Z442-4 ]
    NP_001265354.1. NM_001278425.1.
    NP_443124.3. NM_052892.3.
    UniGenei Hs.413525.

    3D structure databases

    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    STRINGi 9606.ENSP00000337397.

    Protein family/group databases

    MEROPSi T06.003.

    PTM databases

    PhosphoSitei Q7Z442.

    Polymorphism databases

    DMDMi 317373538.

    Proteomic databases

    PaxDbi Q7Z442.
    PRIDEi Q7Z442.

    Protocols and materials databases

    DNASUi 114780.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000337114 ; ENSP00000337397 ; ENSG00000166473 . [Q7Z442-3 ]
    ENST00000527937 ; ENSP00000432818 ; ENSG00000166473 . [Q7Z442-6 ]
    ENST00000531391 ; ENSP00000436309 ; ENSG00000166473 . [Q7Z442-4 ]
    GeneIDi 114780.
    KEGGi hsa:114780.
    UCSCi uc002fgi.3. human. [Q7Z442-4 ]
    uc002fgj.3. human. [Q7Z442-3 ]
    uc002fgk.1. human. [Q7Z442-6 ]

    Organism-specific databases

    CTDi 114780.
    GeneCardsi GC16M081135.
    H-InvDB HIX0013271.
    HGNCi HGNC:21715. PKD1L2.
    MIMi 607894. gene.
    neXtProti NX_Q7Z442.
    PharmGKBi PA134874396.
    HUGEi Search...
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG12793.
    HOVERGENi HBG108252.
    KOi K04988.
    OMAi ARGNIMK.
    OrthoDBi EOG7BW0HJ.
    PhylomeDBi Q7Z442.

    Miscellaneous databases

    GenomeRNAii 114780.
    NextBioi 79149.
    PROi Q7Z442.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q7Z442.
    CleanExi HS_PKD1L2.
    Genevestigatori Q7Z442.

    Family and domain databases

    Gene3Di 2.60.60.20. 1 hit.
    3.10.100.10. 1 hit.
    InterProi IPR001304. C-type_lectin.
    IPR016186. C-type_lectin-like.
    IPR016187. C-type_lectin_fold.
    IPR000203. GPS.
    IPR000922. Lectin_gal-bd_dom.
    IPR008976. Lipase_LipOase.
    IPR002859. PKD/REJ-like.
    IPR013122. PKD1_2_channel.
    IPR003915. PKD_2.
    IPR001024. PLAT/LH2_dom.
    IPR014010. REJ-like.
    [Graphical view ]
    Pfami PF02140. Gal_Lectin. 1 hit.
    PF01825. GPS. 1 hit.
    PF00059. Lectin_C. 1 hit.
    PF08016. PKD_channel. 1 hit.
    PF01477. PLAT. 1 hit.
    PF02010. REJ. 1 hit.
    [Graphical view ]
    PRINTSi PR01433. POLYCYSTIN2.
    SMARTi SM00034. CLECT. 1 hit.
    SM00303. GPS. 1 hit.
    SM00308. LH2. 1 hit.
    [Graphical view ]
    SUPFAMi SSF49723. SSF49723. 1 hit.
    SSF56436. SSF56436. 1 hit.
    PROSITEi PS50041. C_TYPE_LECTIN_2. 1 hit.
    PS50221. GPS. 1 hit.
    PS50095. PLAT. 1 hit.
    PS51111. REJ. 1 hit.
    PS50228. SUEL_LECTIN. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Identification of two novel polycystic kidney disease-1-like genes in human and mouse genomes."
      Li A., Tian X., Sung S.-W., Somlo S.
      Genomics 81:596-608(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), ALTERNATIVE SPLICING, TISSUE SPECIFICITY, VARIANTS ARG-73; ASN-77; ILE-183; ALA-301; PRO-711; VAL-863; PHE-2139 AND ILE-2315.
      Tissue: Testis.
    2. Erratum
      Li A., Tian X., Sung S.-W., Somlo S.
      Genomics 82:498-500(2003)
    3. "Polycystin-1L2 is a novel G-protein-binding protein."
      Yuasa T., Takakura A., Denker B.M., Venugopal B., Zhou J.
      Genomics 84:126-138(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), FUNCTION, SUBUNIT, ALTERNATIVE SPLICING, INTERACTION WITH GNAS AND GNAI1, VARIANTS PRO-1326; ASP-1330; ARG-2036; LEU-2046; THR-2055; PHE-2139 AND ARG-2209.
    4. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 6), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 474-2459 (ISOFORM 3), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 2079-2459 (ISOFORMS 1/2/3/4), VARIANTS PRO-711; PHE-2139; ARG-2209 AND ILE-2315.
      Tissue: Amygdala, Hippocampus and Kidney.
    5. "Prediction of the coding sequences of unidentified human genes. XXI. The complete sequences of 60 new cDNA clones from brain which code for large proteins."
      Nagase T., Kikuno R., Ohara O.
      DNA Res. 8:179-187(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 553-2016 (ISOFORM 1), VARIANTS PRO-711; VAL-863; PRO-1326; ASP-1330; VAL-1331 AND VAL-1867.
      Tissue: Brain.
    6. "The sequence and analysis of duplication-rich human chromosome 16."
      Martin J., Han C., Gordon L.A., Terry A., Prabhakar S., She X., Xie G., Hellsten U., Chan Y.M., Altherr M., Couronne O., Aerts A., Bajorek E., Black S., Blumer H., Branscomb E., Brown N.C., Bruno W.J.
      , Buckingham J.M., Callen D.F., Campbell C.S., Campbell M.L., Campbell E.W., Caoile C., Challacombe J.F., Chasteen L.A., Chertkov O., Chi H.C., Christensen M., Clark L.M., Cohn J.D., Denys M., Detter J.C., Dickson M., Dimitrijevic-Bussod M., Escobar J., Fawcett J.J., Flowers D., Fotopulos D., Glavina T., Gomez M., Gonzales E., Goodstein D., Goodwin L.A., Grady D.L., Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Hildebrand C.E., Huang W., Israni S., Jett J., Jewett P.B., Kadner K., Kimball H., Kobayashi A., Krawczyk M.-C., Leyba T., Longmire J.L., Lopez F., Lou Y., Lowry S., Ludeman T., Manohar C.F., Mark G.A., McMurray K.L., Meincke L.J., Morgan J., Moyzis R.K., Mundt M.O., Munk A.C., Nandkeshwar R.D., Pitluck S., Pollard M., Predki P., Parson-Quintana B., Ramirez L., Rash S., Retterer J., Ricke D.O., Robinson D.L., Rodriguez A., Salamov A., Saunders E.H., Scott D., Shough T., Stallings R.L., Stalvey M., Sutherland R.D., Tapia R., Tesmer J.G., Thayer N., Thompson L.S., Tice H., Torney D.C., Tran-Gyamfi M., Tsai M., Ulanovsky L.E., Ustaszewska A., Vo N., White P.S., Williams A.L., Wills P.L., Wu J.-R., Wu K., Yang J., DeJong P., Bruce D., Doggett N.A., Deaven L., Schmutz J., Grimwood J., Richardson P., Rokhsar D.S., Eichler E.E., Gilna P., Lucas S.M., Myers R.M., Rubin E.M., Pennacchio L.A.
      Nature 432:988-994(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    7. "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] (ISOFORM 4), VARIANT PRO-711.
      Tissue: Skin.

    Entry informationi

    Entry nameiPK1L2_HUMAN
    AccessioniPrimary (citable) accession number: Q7Z442
    Secondary accession number(s): Q6UEE1
    , Q6ZN46, Q6ZSP2, Q8N1H9, Q96CL2, Q96Q08
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: February 26, 2008
    Last sequence update: January 11, 2011
    Last modified: October 1, 2014
    This is version 103 of the entry and version 4 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 16
      Human chromosome 16: 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