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Q7Z442 (PK1L2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 102. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Polycystic kidney disease protein 1-like 2
Alternative name(s):
PC1-like 2 protein
Polycystin-1L2
Gene names
Name:PKD1L2
Synonyms:KIAA1879, PC1L2
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length2459 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

May function as an ion-channel regulator. May function as a G-protein-coupled receptor. Ref.3

Subunit structure

May interact via its C-terminus with GNAS and GNAI1. Ref.3

Subcellular location

Membrane; Multi-pass membrane protein Potential.

Tissue specificity

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. Ref.1

Developmental stage

Expressed in fetal heart.

Sequence similarities

Belongs to the polycystin family.

Contains 1 C-type lectin domain.

Contains 1 GPS domain.

Contains 1 PLAT domain.

Contains 1 REJ domain.

Contains 1 SUEL-type lectin domain.

Sequence caution

The sequence AAQ73173.1 differs from that shown. Reason: Frameshift at positions 2113 and 2117.

The sequence BAB67772.1 differs from that shown. Reason: Intron retention.

The sequence BAC05222.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

The sequence BAD18529.1 differs from that shown. Reason: Erroneous translation. Wrong CDS prediction.

Alternative products

This entry describes 5 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q7Z442-1)

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.
Isoform 2 (identifier: Q7Z442-2)

Also known as: Long isoform;

The sequence of this isoform differs from the canonical sequence as follows:
     1-685: Missing.
Isoform 3 (identifier: Q7Z442-3)

The sequence of this isoform differs from the canonical sequence as follows:
     971-991: WEASLALQHASEALLTVSAKA → GSCMGDSWEGAPPAAHVSHAR
     992-2459: Missing.
Isoform 4 (identifier: Q7Z442-4)

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.
Isoform 6 (identifier: Q7Z442-6)

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.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 1717 Potential
Chain18 – 24592442Polycystic kidney disease protein 1-like 2
PRO_0000322576

Regions

Topological domain18 – 13441327Extracellular Potential
Transmembrane1345 – 136521Helical; Potential
Topological domain1366 – 1552187Cytoplasmic Potential
Transmembrane1553 – 157321Helical; Potential
Topological domain1574 – 159421Extracellular Potential
Transmembrane1595 – 161521Helical; Potential
Topological domain1616 – 1818203Cytoplasmic Potential
Transmembrane1819 – 183921Helical; Potential
Topological domain1840 – 186526Extracellular Potential
Transmembrane1866 – 188621Helical; Potential
Topological domain1887 – 194357Cytoplasmic Potential
Transmembrane1944 – 196421Helical; Potential
Topological domain1965 – 2143179Extracellular Potential
Transmembrane2144 – 216623Helical; Potential
Topological domain2167 – 218216Cytoplasmic Potential
Transmembrane2183 – 220321Helical; Potential
Topological domain2204 – 221815Extracellular Potential
Transmembrane2219 – 223921Helical; Potential
Topological domain2240 – 227031Cytoplasmic Potential
Transmembrane2271 – 229121Helical; Potential
Topological domain2292 – 231221Extracellular Potential
Transmembrane2313 – 233321Helical; Potential
Topological domain2334 – 237744Cytoplasmic Potential
Transmembrane2378 – 239821Helical; Potential
Topological domain2399 – 245961Extracellular Potential
Domain35 – 153119C-type lectin
Domain161 – 25292SUEL-type lectin
Domain422 – 1123702REJ
Domain1279 – 132850GPS
Domain1390 – 1507118PLAT
Region2340 – 236223Channel pore-region
Region2379 – 245981Interaction with GNAS and GNAI1
Motif2024 – 203512Polycystin motif
Motif2119 – 212911Polycystin motif

Amino acid modifications

Glycosylation961N-linked (GlcNAc...) Potential
Glycosylation1101N-linked (GlcNAc...) Potential
Glycosylation2681N-linked (GlcNAc...) Potential
Glycosylation3071N-linked (GlcNAc...) Potential
Glycosylation4411N-linked (GlcNAc...) Potential
Glycosylation5361N-linked (GlcNAc...) Potential
Glycosylation11761N-linked (GlcNAc...) Potential
Glycosylation11861N-linked (GlcNAc...) Potential
Disulfide bond56 ↔ 152 By similarity
Disulfide bond128 ↔ 144 By similarity

Natural variations

Alternative sequence1 – 685685Missing in isoform 2, isoform 4 and isoform 6.
VSP_031942
Alternative sequence754 – 81259Missing in isoform 6.
VSP_031944
Alternative sequence928 – 98457REHVL…ASEAL → PVGSWGAPFIPFLWGPRVCV RPFGLWIKVHGSGEKPVVSP KRLTPPPSLVFWVSDIK in isoform 6.
VSP_031945
Alternative sequence971 – 99121WEASL…VSAKA → GSCMGDSWEGAPPAAHVSHA R in isoform 3 and isoform 4.
VSP_031946
Alternative sequence985 – 24591475Missing in isoform 6.
VSP_031947
Alternative sequence992 – 24591468Missing in isoform 3 and isoform 4.
VSP_031948
Natural variant201V → A.
Corresponds to variant rs9924530 [ dbSNP | Ensembl ].
VAR_039427
Natural variant731W → R. Ref.1
Corresponds to variant rs9924371 [ dbSNP | Ensembl ].
VAR_039428
Natural variant771K → N. Ref.1
Corresponds to variant rs9934272 [ dbSNP | Ensembl ].
VAR_039429
Natural variant1201Q → L.
Corresponds to variant rs7191351 [ dbSNP | Ensembl ].
VAR_039430
Natural variant1291G → D.
Corresponds to variant rs7185774 [ dbSNP | Ensembl ].
VAR_039431
Natural variant1561V → I.
Corresponds to variant rs35528333 [ dbSNP | Ensembl ].
VAR_039432
Natural variant1621C → S.
Corresponds to variant rs35970134 [ dbSNP | Ensembl ].
VAR_039433
Natural variant1691V → M.
Corresponds to variant rs36099350 [ dbSNP | Ensembl ].
VAR_039434
Natural variant1731L → S.
Corresponds to variant rs8060294 [ dbSNP | Ensembl ].
VAR_039435
Natural variant1831V → I. Ref.1
Corresponds to variant rs12933806 [ dbSNP | Ensembl ].
VAR_039436
Natural variant2051G → R.
Corresponds to variant rs34719852 [ dbSNP | Ensembl ].
VAR_039437
Natural variant2211E → G.
Corresponds to variant rs6564838 [ dbSNP | Ensembl ].
VAR_039438
Natural variant2521R → W.
Corresponds to variant rs6420424 [ dbSNP | Ensembl ].
VAR_039439
Natural variant3011P → A. Ref.1
Corresponds to variant rs11150370 [ dbSNP | Ensembl ].
VAR_039440
Natural variant4071N → S.
Corresponds to variant rs9937169 [ dbSNP | Ensembl ].
VAR_039441
Natural variant4161K → Q.
Corresponds to variant rs7194871 [ dbSNP | Ensembl ].
VAR_039442
Natural variant4621L → V.
Corresponds to variant rs9934856 [ dbSNP | Ensembl ].
VAR_039443
Natural variant5121P → L.
Corresponds to variant rs7205673 [ dbSNP | Ensembl ].
VAR_039444
Natural variant6361R → H.
Corresponds to variant rs13339342 [ dbSNP | Ensembl ].
VAR_039445
Natural variant7111L → P. Ref.1 Ref.4 Ref.5 Ref.7
Corresponds to variant rs4889261 [ dbSNP | Ensembl ].
VAR_039446
Natural variant7851G → C.
Corresponds to variant rs9935113 [ dbSNP | Ensembl ].
VAR_039447
Natural variant8491R → H.
Corresponds to variant rs1869349 [ dbSNP | Ensembl ].
VAR_039448
Natural variant8631A → V. Ref.1 Ref.5
Corresponds to variant rs12596941 [ dbSNP | Ensembl ].
VAR_039449
Natural variant9191L → M.
Corresponds to variant rs745211 [ dbSNP | Ensembl ].
VAR_039450
Natural variant9981R → C.
Corresponds to variant rs34504526 [ dbSNP | Ensembl ].
VAR_061525
Natural variant9991Q → H.
Corresponds to variant rs35292101 [ dbSNP | Ensembl ].
VAR_061526
Natural variant10361L → P.
Corresponds to variant rs12597040 [ dbSNP | Ensembl ].
VAR_039451
Natural variant10421M → V.
Corresponds to variant rs12931227 [ dbSNP | Ensembl ].
VAR_039452
Natural variant10481T → A.
Corresponds to variant rs12931217 [ dbSNP | Ensembl ].
VAR_056705
Natural variant10811G → V.
Corresponds to variant rs16954794 [ dbSNP | Ensembl ].
VAR_056706
Natural variant12511G → W.
Corresponds to variant rs734824 [ dbSNP | Ensembl ].
VAR_056707
Natural variant13261S → P. Ref.3 Ref.5
Corresponds to variant rs1453324 [ dbSNP | Ensembl ].
VAR_056708
Natural variant13301N → D. Ref.3 Ref.5
Corresponds to variant rs1453325 [ dbSNP | Ensembl ].
VAR_061527
Natural variant13311I → V. Ref.5
Corresponds to variant rs9938333 [ dbSNP | Ensembl ].
VAR_061528
Natural variant13351A → D.
Corresponds to variant rs1453326 [ dbSNP | Ensembl ].
VAR_056709
Natural variant14061T → M.
Corresponds to variant rs8050904 [ dbSNP | Ensembl ].
VAR_056710
Natural variant15271A → V.
Corresponds to variant rs16954775 [ dbSNP | Ensembl ].
VAR_056711
Natural variant16161Q → R.
Corresponds to variant rs9921827 [ dbSNP | Ensembl ].
VAR_056712
Natural variant16451M → V.
Corresponds to variant rs9921748 [ dbSNP | Ensembl ].
VAR_056713
Natural variant16651S → Y.
Corresponds to variant rs7192948 [ dbSNP | Ensembl ].
VAR_056714
Natural variant17011Q → H.
Corresponds to variant rs7194136 [ dbSNP | Ensembl ].
VAR_056715
Natural variant17391A → V.
Corresponds to variant rs35941327 [ dbSNP | Ensembl ].
VAR_061529
Natural variant18481G → R.
Corresponds to variant rs4889244 [ dbSNP | Ensembl ].
VAR_056716
Natural variant18671M → V. Ref.5
Corresponds to variant rs12918619 [ dbSNP | Ensembl ].
VAR_056717
Natural variant20361Q → R. Ref.3
Corresponds to variant rs16954722 [ dbSNP | Ensembl ].
VAR_056718
Natural variant20461P → L. Ref.3
Corresponds to variant rs7206183 [ dbSNP | Ensembl ].
VAR_056719
Natural variant20551A → T. Ref.3
Corresponds to variant rs16954717 [ dbSNP | Ensembl ].
VAR_056720
Natural variant21191L → I.
Corresponds to variant rs8050204 [ dbSNP | Ensembl ].
VAR_059551
Natural variant21391S → F. Ref.1 Ref.3 Ref.4
Corresponds to variant rs4889241 [ dbSNP | Ensembl ].
VAR_059552
Natural variant22091S → R. Ref.3 Ref.4
Corresponds to variant rs4889238 [ dbSNP | Ensembl ].
VAR_061530
Natural variant23151M → I. Ref.1 Ref.4
Corresponds to variant rs8054182 [ dbSNP | Ensembl ].
VAR_059553

Experimental info

Sequence conflict7831E → G in BAC05222. Ref.4
Sequence conflict14211R → S in AAO32796. Ref.1
Sequence conflict17741S → P in BAB67772. Ref.5
Sequence conflict17761P → H in BAB67772. Ref.5
Sequence conflict20491Y → S in AAQ73173. Ref.3
Sequence conflict20781E → A in AAQ73173. Ref.3
Sequence conflict22021V → G in AAQ73173. Ref.3

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified January 11, 2011. Version 4.
Checksum: A650C27B51715962

FASTA2,459272,575
        10         20         30         40         50         60 
MSAVGLVLLV LALRLRATTV KPEEGSFCSN SQVAFRDACY EFVPLGRTFR DAQSWCEGQG 

        70         80         90        100        110        120 
GHLVFIQDEG TQWFLQKHIS QDREWWIGLT WNLARNGTTE GPGTWLDTSN VTYSNWHGGQ 

       130        140        150        160        170        180 
AAAAPDTCGH IGRGPSSEWV TSDCAQTFAF MCEFRVGQSL ACEGLNATVH CGLGQVIQVQ 

       190        200        210        220        230        240 
DAVYGRQNPH FCTQDAGRPS DLEQGCSWAN VKEEVAGQCQ ELQSCQVAAD ETYFGNLCPT 

       250        260        270        280        290        300 
QGSYLWVQYQ CREALQLMVS SESFIFDNVT ISLTWLLSPY IGNLSCIIST GDSHTFDPYN 

       310        320        330        340        350        360 
PPSVSSNVTH QFTSPGEFTV FAECTTSEWH VTAQRQVTVR DKMETLSVTA CSGLSQSGAG 

       370        380        390        400        410        420 
PLCQAVFGDP LWIQVELDGG TGVTYTVLLG DITLAESTTQ KGSLPYNLIL DRETQKLMGP 

       430        440        450        460        470        480 
GRHRLEIQAT GNTTTSTISR NITVHLVELL SGLQASWASD HLELGQDLLI TISLAQGTPE 

       490        500        510        520        530        540 
ELTFEVAGLN ATFSHEQVSF GEPFGICRLA VPVEGTFLVT MLVRNAFSNL SLEIGNITIT 

       550        560        570        580        590        600 
APSGLQEPSG MNAEGKSKDK GDMEVYIQPG PYVDPFTTVT LGWPDNDKEL RFQWSCGSCW 

       610        620        630        640        650        660 
ALWSSCVERQ LLRTDQRELV VPASCLPPPD SAVTLRLAVL RGQELENRAE QCLYVSAPWE 

       670        680        690        700        710        720 
LRPRVSCERN CRPVNASKDI LLRVTMGEDS PVAMFSWYLD NTPTEQAEPL LDACRLRGFW 

       730        740        750        760        770        780 
PRSLTLLQSN TSTLLLNSSF LQSRGEVIRI RATALTRHAY GEDTYVISTV PPREVPACTI 

       790        800        810        820        830        840 
APEEGTVLTS FAIFCNASTA LGPLEFCFCL ESGSCLHCGP EPALPSVYLP LGEENNDFVL 

       850        860        870        880        890        900 
TVVISATNRA GDTQQTQAMA KVALGDTCVE DVAFQAAVSE KIPTALQGEG GPEQLLQLAK 

       910        920        930        940        950        960 
AVSSMLNQEH ESQGSGQSLS IDVRQKVREH VLGSLSAVTT GLEDVQRVQE LAEVLREVTC 

       970        980        990       1000       1010       1020 
RSKELTPSAQ WEASLALQHA SEALLTVSAK ARPEDQRRQA ATRDLFQAVG SVLEASLSNR 

      1030       1040       1050       1060       1070       1080 
PEEPAEASSS QIATVLRLLR VMEHVQTTLL LGKLPGGLPA MLATPSISVY TNRIQPWSWQ 

      1090       1100       1110       1120       1130       1140 
GSSLRPDAAD SATFMLPAAS SLSSLEGGQE PVDIKIMSFP KSPFPARSHF DVSGTVGGLR 

      1150       1160       1170       1180       1190       1200 
VTSPSGQLIP VKNLSENIEI LLPRHSQRHS QPTVLNLTSP EALWVNVTSG EATLGIQLHW 

      1210       1220       1230       1240       1250       1260 
RPDIALTLSL GYGYHPNKSS YDAQTHLVPM VAPDELPTWI LSPQDLRFGE GVYYLTVVPE 

      1270       1280       1290       1300       1310       1320 
SDLEPAPGRD LTVGITTFLS HCVFWDEVQE TWDDSGCQVG PRTSPYQTHC LCNHLTFFGS 

      1330       1340       1350       1360       1370       1380 
TFLVMSNAIN IHQTAELFAT FEDNPVVVTT VGCLCVVYVL VVIWARRKDA QDQAKVKVTV 

      1390       1400       1410       1420       1430       1440 
LEDNDPFAQY HYLVTVYTGH RRGAATSSKV TVTLYGLDGE REPHHLADPD TPVFERGAVD 

      1450       1460       1470       1480       1490       1500 
AFLLSTLFPL GELRSLRLWH DNSGDRPSWY VSRVLVYDLV MDRKWYFLCN SWLSINVGDC 

      1510       1520       1530       1540       1550       1560 
VLDKVFPVAT EQDRKQFSHL FFMKTSAGFQ DGHIWYSIFS RCARSSFTRV QRVSCCFSLL 

      1570       1580       1590       1600       1610       1620 
LCTMLTSIMF WGVPKDPAEQ KMDLGKIEFT WQEVMIGLES SILMFPINLL IVQIFQNTRP 

      1630       1640       1650       1660       1670       1680 
RVAKEQNTGK WDRGSPNLTP SPQPMEDGLL TPEAVTKDVS RIVSSLFKAL KVPSPALGWD 

      1690       1700       1710       1720       1730       1740 
SVNLMDINSL LALVEDVIYP QNTSGQVFWE EAKKREDPVT LTLGSSEMKE KSQCPKPKAA 

      1750       1760       1770       1780       1790       1800 
RSGPWKDSAY RQCLYLQLEH VEQELRLVGP RGFSQPHSHA QALRQLQTLK GGLGVQPGTW 

      1810       1820       1830       1840       1850       1860 
APAHASALQV SKPPQGLPWW CILVGWLLVA ATSGVAAFFT MLYGLHYGRA SSLRWLISMA 

      1870       1880       1890       1900       1910       1920 
VSFVESMFVT QPLKVLGFAA FFALVLKRVD DEEDTVAPLP GHLLGPDPYA LFRARRNSSR 

      1930       1940       1950       1960       1970       1980 
DVYQPPLTAA IEKMKTTHLK EQKAFALIRE ILAYLGFLWM LLLVAYGQRD PSAYHLNRHL 

      1990       2000       2010       2020       2030       2040 
QHSFTRGFSG VLGFREFFKW ANTTLVSNLY GHPPGFITDG NSKLVGSAQI RQVRVQESSC 

      2050       2060       2070       2080       2090       2100 
PLAQQPQAYL NGCRAPYSLD AEDMADYGEG WNATTLSEWQ YQSQDQRQGY PIWGKLTVYR 

      2110       2120       2130       2140       2150       2160 
GGGYVVPLGT DRQKHVKILR YLFDNTWLDA LTRAVFVEST VYNANVNLFC IVTLTLETSA 

      2170       2180       2190       2200       2210       2220 
LGTFFTHAAL QSLRLYPFTD GWHPFVVAAE LIYFLFLLYY MVVQGKRMSK ETWGYFCSKW 

      2230       2240       2250       2260       2270       2280 
NLLELAIILA SWSALAVFVK RAVLAERDLQ RCRNHREEGI SFSETAAADA ALGYIIAFLV 

      2290       2300       2310       2320       2330       2340 
LLSTVKLWHL LRLNPKMNMI TAALRRAWGD ISGFMIVILT MLLAYSIASN LIFGWKLRSY 

      2350       2360       2370       2380       2390       2400 
KTLFDAAETM VSLQLGIFNY EEVLDYSPVL GSFLIGSCIV FMTFVVLNLF ISVILVAFSE 

      2410       2420       2430       2440       2450 
EQKYYQLSEE GEIVDLLLMK ILSFLGIKSK REEPGSSREQ PGSLSQTRHS RPAQALPKD 

« Hide

Isoform 2 (Long isoform) [UniParc].

Checksum: A09FA86FF9883B17
Show »

FASTA1,774197,454
Isoform 3 [UniParc].

Checksum: D0ED4E4407E96514
Show »

FASTA991107,943
Isoform 4 [UniParc].

Checksum: D4A87793F6B42B31
Show »

FASTA30632,823
Isoform 6 [UniParc].

Checksum: C20F77C3BBD8C521
Show »

FASTA24026,012

References

« Hide 'large scale' references
[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. expand/collapse author list , 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. expand/collapse author list , 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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS61998.1. [Q7Z442-2]
CCDS61999.1. [Q7Z442-4]
RefSeqNP_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.
UniGeneHs.413525.

3D structure databases

ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

STRING9606.ENSP00000337397.

Protein family/group databases

MEROPST06.003.

PTM databases

PhosphoSiteQ7Z442.

Polymorphism databases

DMDM317373538.

Proteomic databases

PaxDbQ7Z442.
PRIDEQ7Z442.

Protocols and materials databases

DNASU114780.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000337114; ENSP00000337397; ENSG00000166473. [Q7Z442-3]
ENST00000527937; ENSP00000432818; ENSG00000166473. [Q7Z442-6]
ENST00000531391; ENSP00000436309; ENSG00000166473. [Q7Z442-4]
GeneID114780.
KEGGhsa:114780.
UCSCuc002fgi.3. human. [Q7Z442-4]
uc002fgj.3. human. [Q7Z442-3]
uc002fgk.1. human. [Q7Z442-6]

Organism-specific databases

CTD114780.
GeneCardsGC16M081135.
H-InvDBHIX0013271.
HGNCHGNC:21715. PKD1L2.
MIM607894. gene.
neXtProtNX_Q7Z442.
PharmGKBPA134874396.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG12793.
HOVERGENHBG108252.
KOK04988.
OMAARGNIMK.
OrthoDBEOG7BW0HJ.
PhylomeDBQ7Z442.

Gene expression databases

BgeeQ7Z442.
CleanExHS_PKD1L2.
GenevestigatorQ7Z442.

Family and domain databases

Gene3D2.60.60.20. 1 hit.
3.10.100.10. 1 hit.
InterProIPR001304. 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]
PfamPF02140. 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]
PRINTSPR01433. POLYCYSTIN2.
SMARTSM00034. CLECT. 1 hit.
SM00303. GPS. 1 hit.
SM00308. LH2. 1 hit.
[Graphical view]
SUPFAMSSF49723. SSF49723. 1 hit.
SSF56436. SSF56436. 1 hit.
PROSITEPS50041. 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]
ProtoNetSearch...

Other

GenomeRNAi114780.
NextBio79149.
PROQ7Z442.
SOURCESearch...

Entry information

Entry namePK1L2_HUMAN
AccessionPrimary (citable) accession number: Q7Z442
Secondary accession number(s): Q6UEE1 expand/collapse secondary AC list , Q6ZN46, Q6ZSP2, Q8N1H9, Q96CL2, Q96Q08
Entry history
Integrated into UniProtKB/Swiss-Prot: February 26, 2008
Last sequence update: January 11, 2011
Last modified: July 9, 2014
This is version 102 of the entry and version 4 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 16

Human chromosome 16: entries, gene names and cross-references to MIM