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Protein

Polycystic kidney disease protein 1-like 2

Gene

PKD1L2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: 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

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Ion channel

Keywords - Biological processi

Ion transport, Transport

Keywords - Ligandi

Lectin

Enzyme and pathway databases

BioCyciZFISH:ENSG00000140908-MONOMER.

Protein family/group databases

MEROPSiP02.040.

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
Proteomesi
  • UP000005640 Componenti: Chromosome 16

Organism-specific databases

HGNCiHGNC:21715. PKD1L2.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini18 – 1344ExtracellularSequence analysisAdd BLAST1327
Transmembranei1345 – 1365HelicalSequence analysisAdd BLAST21
Topological domaini1366 – 1552CytoplasmicSequence analysisAdd BLAST187
Transmembranei1553 – 1573HelicalSequence analysisAdd BLAST21
Topological domaini1574 – 1594ExtracellularSequence analysisAdd BLAST21
Transmembranei1595 – 1615HelicalSequence analysisAdd BLAST21
Topological domaini1616 – 1818CytoplasmicSequence analysisAdd BLAST203
Transmembranei1819 – 1839HelicalSequence analysisAdd BLAST21
Topological domaini1840 – 1865ExtracellularSequence analysisAdd BLAST26
Transmembranei1866 – 1886HelicalSequence analysisAdd BLAST21
Topological domaini1887 – 1943CytoplasmicSequence analysisAdd BLAST57
Transmembranei1944 – 1964HelicalSequence analysisAdd BLAST21
Topological domaini1965 – 2143ExtracellularSequence analysisAdd BLAST179
Transmembranei2144 – 2166HelicalSequence analysisAdd BLAST23
Topological domaini2167 – 2182CytoplasmicSequence analysisAdd BLAST16
Transmembranei2183 – 2203HelicalSequence analysisAdd BLAST21
Topological domaini2204 – 2218ExtracellularSequence analysisAdd BLAST15
Transmembranei2219 – 2239HelicalSequence analysisAdd BLAST21
Topological domaini2240 – 2270CytoplasmicSequence analysisAdd BLAST31
Transmembranei2271 – 2291HelicalSequence analysisAdd BLAST21
Topological domaini2292 – 2312ExtracellularSequence analysisAdd BLAST21
Transmembranei2313 – 2333HelicalSequence analysisAdd BLAST21
Topological domaini2334 – 2377CytoplasmicSequence analysisAdd BLAST44
Transmembranei2378 – 2398HelicalSequence analysisAdd BLAST21
Topological domaini2399 – 2459ExtracellularSequence analysisAdd BLAST61

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi114780.
OpenTargetsiENSG00000166473.
ENSG00000279362.
PharmGKBiPA134874396.

Polymorphism and mutation databases

BioMutaiPKD1L2.
DMDMi317373538.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 17Sequence analysisAdd BLAST17
ChainiPRO_000032257618 – 2459Polycystic kidney disease protein 1-like 2Add BLAST2442

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Disulfide bondi56 ↔ 152By similarity
Glycosylationi96N-linked (GlcNAc...)Sequence analysis1
Glycosylationi110N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi128 ↔ 144By similarity
Glycosylationi268N-linked (GlcNAc...)Sequence analysis1
Glycosylationi307N-linked (GlcNAc...)Sequence analysis1
Glycosylationi441N-linked (GlcNAc...)Sequence analysis1
Glycosylationi536N-linked (GlcNAc...)Sequence analysis1
Glycosylationi1176N-linked (GlcNAc...)Sequence analysis1
Glycosylationi1186N-linked (GlcNAc...)Sequence analysis1

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

EPDiQ7Z442.
PaxDbiQ7Z442.
PRIDEiQ7Z442.

PTM databases

iPTMnetiQ7Z442.
PhosphoSitePlusiQ7Z442.

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

BgeeiENSG00000166473.
CleanExiHS_PKD1L2.
ExpressionAtlasiQ7Z442. baseline and differential.
GenevisibleiQ7Z442. HS.

Interactioni

Subunit structurei

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

Protein-protein interaction databases

BioGridi125342. 1 interactor.
IntActiQ7Z442. 1 interactor.
STRINGi9606.ENSP00000469432.

Structurei

3D structure databases

ProteinModelPortaliQ7Z442.
SMRiQ7Z442.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini35 – 153C-type lectinPROSITE-ProRule annotationAdd BLAST119
Domaini161 – 252SUEL-type lectinPROSITE-ProRule annotationAdd BLAST92
Domaini422 – 1123REJPROSITE-ProRule annotationAdd BLAST702
Domaini1279 – 1328GPSPROSITE-ProRule annotationAdd BLAST50
Domaini1390 – 1507PLATPROSITE-ProRule annotationAdd BLAST118

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni2340 – 2362Channel pore-regionAdd BLAST23
Regioni2379 – 2459Interaction with GNAS and GNAI11 PublicationAdd BLAST81

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi2024 – 2035Polycystin motifAdd BLAST12
Motifi2119 – 2129Polycystin motifAdd BLAST11

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

eggNOGiENOG410JFZI. Eukaryota.
ENOG410Z7Z0. LUCA.
GeneTreeiENSGT00860000134877.
HOVERGENiHBG108252.
InParanoidiQ7Z442.
KOiK04988.
PhylomeDBiQ7Z442.

Family and domain databases

Gene3Di2.60.60.20. 1 hit.
3.10.100.10. 1 hit.
InterProiIPR001304. C-type_lectin-like.
IPR016186. C-type_lectin-like/link.
IPR016187. CTDL_fold.
IPR000203. GPS.
IPR000922. Lectin_gal-bd_dom.
IPR002859. PKD/REJ-like.
IPR013122. PKD1_2_channel.
IPR003915. PKD_2.
IPR001024. PLAT/LH2_dom.
IPR014010. REJ_dom.
[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. AlignAdd to basket

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 differs from that shown. Reason: Frameshift at positions 2113 and 2117.Curated
The sequence BAB67772 differs from that shown. Intron retention.Curated
The sequence BAC05222 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAD18529 differs from that shown. Reason: Erroneous translation. Wrong CDS prediction.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti783E → G in BAC05222 (PubMed:14702039).Curated1
Sequence conflicti1421R → S in AAO32796 (PubMed:12782129).Curated1
Sequence conflicti1774S → P in BAB67772 (PubMed:11572484).Curated1
Sequence conflicti1776P → H in BAB67772 (PubMed:11572484).Curated1
Sequence conflicti2049Y → S in AAQ73173 (PubMed:15203210).Curated1
Sequence conflicti2078E → A in AAQ73173 (PubMed:15203210).Curated1
Sequence conflicti2202V → G in AAQ73173 (PubMed:15203210).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03942720V → A.Corresponds to variant rs9924530dbSNPEnsembl.1
Natural variantiVAR_03942873W → R.1 PublicationCorresponds to variant rs9924371dbSNPEnsembl.1
Natural variantiVAR_03942977K → N.1 PublicationCorresponds to variant rs9934272dbSNPEnsembl.1
Natural variantiVAR_039430120Q → L.Corresponds to variant rs7191351dbSNPEnsembl.1
Natural variantiVAR_039431129G → D.Corresponds to variant rs7185774dbSNPEnsembl.1
Natural variantiVAR_039432156V → I.Corresponds to variant rs35528333dbSNPEnsembl.1
Natural variantiVAR_039433162C → S.Corresponds to variant rs35970134dbSNPEnsembl.1
Natural variantiVAR_039434169V → M.Corresponds to variant rs36099350dbSNPEnsembl.1
Natural variantiVAR_039435173L → S.Corresponds to variant rs8060294dbSNPEnsembl.1
Natural variantiVAR_039436183V → I.1 PublicationCorresponds to variant rs12933806dbSNPEnsembl.1
Natural variantiVAR_039437205G → R.Corresponds to variant rs34719852dbSNPEnsembl.1
Natural variantiVAR_039438221E → G.Corresponds to variant rs6564838dbSNPEnsembl.1
Natural variantiVAR_039439252R → W.Corresponds to variant rs6420424dbSNPEnsembl.1
Natural variantiVAR_039440301P → A.1 PublicationCorresponds to variant rs11150370dbSNPEnsembl.1
Natural variantiVAR_039441407N → S.Corresponds to variant rs9937169dbSNPEnsembl.1
Natural variantiVAR_039442416K → Q.Corresponds to variant rs7194871dbSNPEnsembl.1
Natural variantiVAR_039443462L → V.Corresponds to variant rs9934856dbSNPEnsembl.1
Natural variantiVAR_039444512P → L.Corresponds to variant rs7205673dbSNPEnsembl.1
Natural variantiVAR_039445636R → H.Corresponds to variant rs13339342dbSNPEnsembl.1
Natural variantiVAR_039446711L → P.4 PublicationsCorresponds to variant rs4889261dbSNPEnsembl.1
Natural variantiVAR_039447785G → C.Corresponds to variant rs9935113dbSNPEnsembl.1
Natural variantiVAR_039448849R → H.Corresponds to variant rs1869349dbSNPEnsembl.1
Natural variantiVAR_039449863A → V.2 PublicationsCorresponds to variant rs12596941dbSNPEnsembl.1
Natural variantiVAR_039450919L → M.Corresponds to variant rs745211dbSNPEnsembl.1
Natural variantiVAR_061525998R → C.Corresponds to variant rs34504526dbSNPEnsembl.1
Natural variantiVAR_061526999Q → H.Corresponds to variant rs35292101dbSNPEnsembl.1
Natural variantiVAR_0394511036L → P.Corresponds to variant rs12597040dbSNPEnsembl.1
Natural variantiVAR_0394521042M → V.Corresponds to variant rs12931227dbSNPEnsembl.1
Natural variantiVAR_0567051048T → A.Corresponds to variant rs12931217dbSNPEnsembl.1
Natural variantiVAR_0567061081G → V.Corresponds to variant rs16954794dbSNPEnsembl.1
Natural variantiVAR_0567071251G → W.Corresponds to variant rs734824dbSNPEnsembl.1
Natural variantiVAR_0567081326S → P.2 PublicationsCorresponds to variant rs1453324dbSNPEnsembl.1
Natural variantiVAR_0615271330N → D.2 PublicationsCorresponds to variant rs1453325dbSNPEnsembl.1
Natural variantiVAR_0615281331I → V.1 PublicationCorresponds to variant rs9938333dbSNPEnsembl.1
Natural variantiVAR_0567091335A → D.Corresponds to variant rs1453326dbSNPEnsembl.1
Natural variantiVAR_0567101406T → M.Corresponds to variant rs8050904dbSNPEnsembl.1
Natural variantiVAR_0567111527A → V.Corresponds to variant rs16954775dbSNPEnsembl.1
Natural variantiVAR_0567121616Q → R.Corresponds to variant rs9921827dbSNPEnsembl.1
Natural variantiVAR_0567131645M → V.Corresponds to variant rs9921748dbSNPEnsembl.1
Natural variantiVAR_0567141665S → Y.Corresponds to variant rs7192948dbSNPEnsembl.1
Natural variantiVAR_0567151701Q → H.Corresponds to variant rs7194136dbSNPEnsembl.1
Natural variantiVAR_0615291739A → V.Corresponds to variant rs35941327dbSNPEnsembl.1
Natural variantiVAR_0567161848G → R.Corresponds to variant rs4889244dbSNPEnsembl.1
Natural variantiVAR_0567171867M → V.1 PublicationCorresponds to variant rs12918619dbSNPEnsembl.1
Natural variantiVAR_0567182036Q → R.1 PublicationCorresponds to variant rs16954722dbSNPEnsembl.1
Natural variantiVAR_0567192046P → L.1 PublicationCorresponds to variant rs7206183dbSNPEnsembl.1
Natural variantiVAR_0567202055A → T.1 PublicationCorresponds to variant rs16954717dbSNPEnsembl.1
Natural variantiVAR_0595512119L → I.Corresponds to variant rs8050204dbSNPEnsembl.1
Natural variantiVAR_0595522139S → F.3 PublicationsCorresponds to variant rs4889241dbSNPEnsembl.1
Natural variantiVAR_0615302209S → R.2 PublicationsCorresponds to variant rs4889238dbSNPEnsembl.1
Natural variantiVAR_0595532315M → I.2 PublicationsCorresponds to variant rs8054182dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0319421 – 685Missing in isoform 2, isoform 4 and isoform 6. 3 PublicationsAdd BLAST685
Alternative sequenceiVSP_031944754 – 812Missing in isoform 6. 1 PublicationAdd BLAST59
Alternative sequenceiVSP_031945928 – 984REHVL…ASEAL → PVGSWGAPFIPFLWGPRVCV RPFGLWIKVHGSGEKPVVSP KRLTPPPSLVFWVSDIK in isoform 6. 1 PublicationAdd BLAST57
Alternative sequenceiVSP_031946971 – 991WEASL…VSAKA → GSCMGDSWEGAPPAAHVSHA R in isoform 3 and isoform 4. 2 PublicationsAdd BLAST21
Alternative sequenceiVSP_031947985 – 2459Missing in isoform 6. 1 PublicationAdd BLAST1475
Alternative sequenceiVSP_031948992 – 2459Missing in isoform 3 and isoform 4. 2 PublicationsAdd BLAST1468

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.
CCDSiCCDS61999.1. [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.5. human. [Q7Z442-1]

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.
CCDSiCCDS61999.1. [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.

3D structure databases

ProteinModelPortaliQ7Z442.
SMRiQ7Z442.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi125342. 1 interactor.
IntActiQ7Z442. 1 interactor.
STRINGi9606.ENSP00000469432.

Protein family/group databases

MEROPSiP02.040.

PTM databases

iPTMnetiQ7Z442.
PhosphoSitePlusiQ7Z442.

Polymorphism and mutation databases

BioMutaiPKD1L2.
DMDMi317373538.

Proteomic databases

EPDiQ7Z442.
PaxDbiQ7Z442.
PRIDEiQ7Z442.

Protocols and materials databases

DNASUi114780.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000337114; ENSP00000337397; ENSG00000166473. [Q7Z442-3]
ENST00000527937; ENSP00000432818; ENSG00000166473. [Q7Z442-6]
ENST00000531391; ENSP00000436309; ENSG00000166473. [Q7Z442-4]
GeneIDi114780.
KEGGihsa:114780.
UCSCiuc002fgi.5. human. [Q7Z442-1]

Organism-specific databases

CTDi114780.
DisGeNETi114780.
GeneCardsiPKD1L2.
H-InvDBHIX0013271.
HGNCiHGNC:21715. PKD1L2.
MIMi607894. gene.
neXtProtiNX_Q7Z442.
OpenTargetsiENSG00000166473.
ENSG00000279362.
PharmGKBiPA134874396.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410JFZI. Eukaryota.
ENOG410Z7Z0. LUCA.
GeneTreeiENSGT00860000134877.
HOVERGENiHBG108252.
InParanoidiQ7Z442.
KOiK04988.
PhylomeDBiQ7Z442.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000140908-MONOMER.

Miscellaneous databases

GenomeRNAii114780.
PROiQ7Z442.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000166473.
CleanExiHS_PKD1L2.
ExpressionAtlasiQ7Z442. baseline and differential.
GenevisibleiQ7Z442. HS.

Family and domain databases

Gene3Di2.60.60.20. 1 hit.
3.10.100.10. 1 hit.
InterProiIPR001304. C-type_lectin-like.
IPR016186. C-type_lectin-like/link.
IPR016187. CTDL_fold.
IPR000203. GPS.
IPR000922. Lectin_gal-bd_dom.
IPR002859. PKD/REJ-like.
IPR013122. PKD1_2_channel.
IPR003915. PKD_2.
IPR001024. PLAT/LH2_dom.
IPR014010. REJ_dom.
[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]
ProtoNetiSearch...

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 30, 2016
This is version 128 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.