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Q7Z442

- PK1L2_HUMAN

UniProt

Q7Z442 - PK1L2_HUMAN

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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

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: UniProtKB-KW

GO - Biological processi

  1. ion transport Source: UniProtKB-KW
  2. neuropeptide signaling pathway Source: InterPro
Complete GO annotation...

Keywords - Molecular functioni

Ion channel

Keywords - Biological processi

Ion transport, Transport

Keywords - Ligandi

Lectin

Protein family/group databases

MEROPSiI63.001.

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

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini18 – 13441327ExtracellularSequence AnalysisAdd
BLAST
Transmembranei1345 – 136521HelicalSequence AnalysisAdd
BLAST
Topological domaini1366 – 1552187CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei1553 – 157321HelicalSequence AnalysisAdd
BLAST
Topological domaini1574 – 159421ExtracellularSequence AnalysisAdd
BLAST
Transmembranei1595 – 161521HelicalSequence AnalysisAdd
BLAST
Topological domaini1616 – 1818203CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei1819 – 183921HelicalSequence AnalysisAdd
BLAST
Topological domaini1840 – 186526ExtracellularSequence AnalysisAdd
BLAST
Transmembranei1866 – 188621HelicalSequence AnalysisAdd
BLAST
Topological domaini1887 – 194357CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei1944 – 196421HelicalSequence AnalysisAdd
BLAST
Topological domaini1965 – 2143179ExtracellularSequence AnalysisAdd
BLAST
Transmembranei2144 – 216623HelicalSequence AnalysisAdd
BLAST
Topological domaini2167 – 218216CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei2183 – 220321HelicalSequence AnalysisAdd
BLAST
Topological domaini2204 – 221815ExtracellularSequence AnalysisAdd
BLAST
Transmembranei2219 – 223921HelicalSequence AnalysisAdd
BLAST
Topological domaini2240 – 227031CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei2271 – 229121HelicalSequence AnalysisAdd
BLAST
Topological domaini2292 – 231221ExtracellularSequence AnalysisAdd
BLAST
Transmembranei2313 – 233321HelicalSequence AnalysisAdd
BLAST
Topological domaini2334 – 237744CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei2378 – 239821HelicalSequence AnalysisAdd
BLAST
Topological domaini2399 – 245961ExtracellularSequence AnalysisAdd
BLAST

GO - Cellular componenti

  1. integral component of membrane Source: UniProtKB-KW
Complete GO annotation...

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.
ExpressionAtlasiQ7Z442. baseline and differential.
GenevestigatoriQ7Z442.

Interactioni

Subunit structurei

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

Protein-protein interaction databases

STRINGi9606.ENSP00000337397.

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.
GeneTreeiENSGT00700000104221.
HOVERGENiHBG108252.
InParanoidiQ7Z442.
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

        10         20         30         40         50
MSAVGLVLLV LALRLRATTV KPEEGSFCSN SQVAFRDACY EFVPLGRTFR
60 70 80 90 100
DAQSWCEGQG GHLVFIQDEG TQWFLQKHIS QDREWWIGLT WNLARNGTTE
110 120 130 140 150
GPGTWLDTSN VTYSNWHGGQ AAAAPDTCGH IGRGPSSEWV TSDCAQTFAF
160 170 180 190 200
MCEFRVGQSL ACEGLNATVH CGLGQVIQVQ DAVYGRQNPH FCTQDAGRPS
210 220 230 240 250
DLEQGCSWAN VKEEVAGQCQ ELQSCQVAAD ETYFGNLCPT QGSYLWVQYQ
260 270 280 290 300
CREALQLMVS SESFIFDNVT ISLTWLLSPY IGNLSCIIST GDSHTFDPYN
310 320 330 340 350
PPSVSSNVTH QFTSPGEFTV FAECTTSEWH VTAQRQVTVR DKMETLSVTA
360 370 380 390 400
CSGLSQSGAG PLCQAVFGDP LWIQVELDGG TGVTYTVLLG DITLAESTTQ
410 420 430 440 450
KGSLPYNLIL DRETQKLMGP GRHRLEIQAT GNTTTSTISR NITVHLVELL
460 470 480 490 500
SGLQASWASD HLELGQDLLI TISLAQGTPE ELTFEVAGLN ATFSHEQVSF
510 520 530 540 550
GEPFGICRLA VPVEGTFLVT MLVRNAFSNL SLEIGNITIT APSGLQEPSG
560 570 580 590 600
MNAEGKSKDK GDMEVYIQPG PYVDPFTTVT LGWPDNDKEL RFQWSCGSCW
610 620 630 640 650
ALWSSCVERQ LLRTDQRELV VPASCLPPPD SAVTLRLAVL RGQELENRAE
660 670 680 690 700
QCLYVSAPWE LRPRVSCERN CRPVNASKDI LLRVTMGEDS PVAMFSWYLD
710 720 730 740 750
NTPTEQAEPL LDACRLRGFW PRSLTLLQSN TSTLLLNSSF LQSRGEVIRI
760 770 780 790 800
RATALTRHAY GEDTYVISTV PPREVPACTI APEEGTVLTS FAIFCNASTA
810 820 830 840 850
LGPLEFCFCL ESGSCLHCGP EPALPSVYLP LGEENNDFVL TVVISATNRA
860 870 880 890 900
GDTQQTQAMA KVALGDTCVE DVAFQAAVSE KIPTALQGEG GPEQLLQLAK
910 920 930 940 950
AVSSMLNQEH ESQGSGQSLS IDVRQKVREH VLGSLSAVTT GLEDVQRVQE
960 970 980 990 1000
LAEVLREVTC RSKELTPSAQ WEASLALQHA SEALLTVSAK ARPEDQRRQA
1010 1020 1030 1040 1050
ATRDLFQAVG SVLEASLSNR PEEPAEASSS QIATVLRLLR VMEHVQTTLL
1060 1070 1080 1090 1100
LGKLPGGLPA MLATPSISVY TNRIQPWSWQ GSSLRPDAAD SATFMLPAAS
1110 1120 1130 1140 1150
SLSSLEGGQE PVDIKIMSFP KSPFPARSHF DVSGTVGGLR VTSPSGQLIP
1160 1170 1180 1190 1200
VKNLSENIEI LLPRHSQRHS QPTVLNLTSP EALWVNVTSG EATLGIQLHW
1210 1220 1230 1240 1250
RPDIALTLSL GYGYHPNKSS YDAQTHLVPM VAPDELPTWI LSPQDLRFGE
1260 1270 1280 1290 1300
GVYYLTVVPE SDLEPAPGRD LTVGITTFLS HCVFWDEVQE TWDDSGCQVG
1310 1320 1330 1340 1350
PRTSPYQTHC LCNHLTFFGS TFLVMSNAIN IHQTAELFAT FEDNPVVVTT
1360 1370 1380 1390 1400
VGCLCVVYVL VVIWARRKDA QDQAKVKVTV LEDNDPFAQY HYLVTVYTGH
1410 1420 1430 1440 1450
RRGAATSSKV TVTLYGLDGE REPHHLADPD TPVFERGAVD AFLLSTLFPL
1460 1470 1480 1490 1500
GELRSLRLWH DNSGDRPSWY VSRVLVYDLV MDRKWYFLCN SWLSINVGDC
1510 1520 1530 1540 1550
VLDKVFPVAT EQDRKQFSHL FFMKTSAGFQ DGHIWYSIFS RCARSSFTRV
1560 1570 1580 1590 1600
QRVSCCFSLL LCTMLTSIMF WGVPKDPAEQ KMDLGKIEFT WQEVMIGLES
1610 1620 1630 1640 1650
SILMFPINLL IVQIFQNTRP RVAKEQNTGK WDRGSPNLTP SPQPMEDGLL
1660 1670 1680 1690 1700
TPEAVTKDVS RIVSSLFKAL KVPSPALGWD SVNLMDINSL LALVEDVIYP
1710 1720 1730 1740 1750
QNTSGQVFWE EAKKREDPVT LTLGSSEMKE KSQCPKPKAA RSGPWKDSAY
1760 1770 1780 1790 1800
RQCLYLQLEH VEQELRLVGP RGFSQPHSHA QALRQLQTLK GGLGVQPGTW
1810 1820 1830 1840 1850
APAHASALQV SKPPQGLPWW CILVGWLLVA ATSGVAAFFT MLYGLHYGRA
1860 1870 1880 1890 1900
SSLRWLISMA VSFVESMFVT QPLKVLGFAA FFALVLKRVD DEEDTVAPLP
1910 1920 1930 1940 1950
GHLLGPDPYA LFRARRNSSR DVYQPPLTAA IEKMKTTHLK EQKAFALIRE
1960 1970 1980 1990 2000
ILAYLGFLWM LLLVAYGQRD PSAYHLNRHL QHSFTRGFSG VLGFREFFKW
2010 2020 2030 2040 2050
ANTTLVSNLY GHPPGFITDG NSKLVGSAQI RQVRVQESSC PLAQQPQAYL
2060 2070 2080 2090 2100
NGCRAPYSLD AEDMADYGEG WNATTLSEWQ YQSQDQRQGY PIWGKLTVYR
2110 2120 2130 2140 2150
GGGYVVPLGT DRQKHVKILR YLFDNTWLDA LTRAVFVEST VYNANVNLFC
2160 2170 2180 2190 2200
IVTLTLETSA LGTFFTHAAL QSLRLYPFTD GWHPFVVAAE LIYFLFLLYY
2210 2220 2230 2240 2250
MVVQGKRMSK ETWGYFCSKW NLLELAIILA SWSALAVFVK RAVLAERDLQ
2260 2270 2280 2290 2300
RCRNHREEGI SFSETAAADA ALGYIIAFLV LLSTVKLWHL LRLNPKMNMI
2310 2320 2330 2340 2350
TAALRRAWGD ISGFMIVILT MLLAYSIASN LIFGWKLRSY KTLFDAAETM
2360 2370 2380 2390 2400
VSLQLGIFNY EEVLDYSPVL GSFLIGSCIV FMTFVVLNLF ISVILVAFSE
2410 2420 2430 2440 2450
EQKYYQLSEE GEIVDLLLMK ILSFLGIKSK REEPGSSREQ PGSLSQTRHS

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

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:
EMBLi
GenBanki
DDBJi
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]
ENST00000624382; ENSP00000485105; ENSG00000279362. [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:
EMBLi
GenBanki
DDBJi
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 I63.001.

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 ]
ENST00000624382 ; ENSP00000485105 ; ENSG00000279362 . [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.
GeneTreei ENSGT00700000104221.
HOVERGENi HBG108252.
InParanoidi Q7Z442.
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.
ExpressionAtlasi Q7Z442. baseline and differential.
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

« Hide 'large scale' publications
  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: November 26, 2014
This is version 105 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