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Q8TDX9 (PK1L1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 107. 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 1
Alternative name(s):
PC1-like 1 protein
Polycystin-1L1
Gene names
Name:PKD1L1
ORF Names:UNQ5785/PRO19563
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length2849 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Component of a ciliary calcium channel that controls calcium concentration within primary cilia without affecting cytoplasmic calcium concentration. Forms a heterodimer with PKD2L1 in primary cilia and forms a calcium-permeant ciliary channel that regulates sonic hedgehog/SHH signaling and GLI2 transcription. Does not constitute the pore-forming subunit. Also involved in left/right axis specification downstream of nodal flow: forms a complex with PKD2 in cilia to facilitate flow detection in left/right patterning. Ref.3

Subunit structure

Heterodimer; heterodimerizes with PKD2 proteins to form a calcium channel. Interacts with PKD2L1; to form ciliary calcium channel. Interacts with PKD2. Ref.3

Subcellular location

Cell projectioncilium membrane; Multi-pass membrane protein Ref.3.

Tissue specificity

Detected in testis and in fetal and adult heart.

Sequence similarities

Belongs to the polycystin family.

Contains 1 GPS domain.

Contains 2 PKD domains.

Contains 1 PLAT domain.

Contains 1 REJ domain.

Sequence caution

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

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q8TDX9-1)

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.
Note: No experimental confirmation available.
Isoform 2 (identifier: Q8TDX9-2)

The sequence of this isoform differs from the canonical sequence as follows:
     2563-2573: LSVVGVSLTYY → VASLVSFSFEK
     2574-2849: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 28492849Polycystic kidney disease protein 1-like 1
PRO_0000164358

Regions

Topological domain1 – 17481748Extracellular Potential
Transmembrane1749 – 176921Helical; Potential
Topological domain1770 – 1956187Cytoplasmic Potential
Transmembrane1957 – 197721Helical; Potential
Topological domain1978 – 199215Extracellular Potential
Transmembrane1993 – 201321Helical; Potential
Topological domain2014 – 2135122Cytoplasmic Potential
Transmembrane2136 – 215621Helical; Potential
Topological domain2157 – 217418Extracellular Potential
Transmembrane2175 – 219521Helical; Potential
Topological domain2196 – 228186Cytoplasmic Potential
Transmembrane2282 – 230221Helical; Potential
Topological domain2303 – 2522220Extracellular Potential
Transmembrane2523 – 254321Helical; Potential
Topological domain2544 – 256219Cytoplasmic Potential
Transmembrane2563 – 258321Helical; Potential
Topological domain2584 – 261633Extracellular Potential
Transmembrane2617 – 263721Helical; Potential
Topological domain2638 – 26469Cytoplasmic Potential
Transmembrane2647 – 266721Helical; Potential
Topological domain2668 – 271144Extracellular Potential
Transmembrane2712 – 273221Helical; Potential
Topological domain2733 – 2849117Cytoplasmic Potential
Domain508 – 59083PKD 1
Domain592 – 67382PKD 2
Domain674 – 1571898REJ
Domain1688 – 173447GPS
Domain1796 – 1913118PLAT

Amino acid modifications

Glycosylation81N-linked (GlcNAc...) Potential
Glycosylation2951N-linked (GlcNAc...) Potential
Glycosylation3381N-linked (GlcNAc...) Potential
Glycosylation3761N-linked (GlcNAc...) Potential
Glycosylation4471N-linked (GlcNAc...) Potential
Glycosylation4821N-linked (GlcNAc...) Potential
Glycosylation5141N-linked (GlcNAc...) Potential
Glycosylation6051N-linked (GlcNAc...) Potential
Glycosylation6571N-linked (GlcNAc...) Potential
Glycosylation7511N-linked (GlcNAc...) Potential
Glycosylation8751N-linked (GlcNAc...) Potential
Glycosylation9261N-linked (GlcNAc...) Potential
Glycosylation9371N-linked (GlcNAc...) Potential
Glycosylation12331N-linked (GlcNAc...) Potential
Glycosylation13011N-linked (GlcNAc...) Potential
Glycosylation13061N-linked (GlcNAc...) Potential
Glycosylation15721N-linked (GlcNAc...) Potential
Glycosylation16811N-linked (GlcNAc...) Potential
Glycosylation17161N-linked (GlcNAc...) Potential
Glycosylation24261N-linked (GlcNAc...) Potential

Natural variations

Alternative sequence2563 – 257311LSVVGVSLTYY → VASLVSFSFEK in isoform 2.
VSP_013215
Alternative sequence2574 – 2849276Missing in isoform 2.
VSP_013216
Natural variant3121V → F.
Corresponds to variant rs2686817 [ dbSNP | Ensembl ].
VAR_024566
Natural variant8121D → N.
Corresponds to variant rs17131915 [ dbSNP | Ensembl ].
VAR_050552
Natural variant8791T → A.
Corresponds to variant rs11972142 [ dbSNP | Ensembl ].
VAR_050553
Natural variant8941V → I.
Corresponds to variant rs56100904 [ dbSNP | Ensembl ].
VAR_061522
Natural variant9061V → I. Ref.4
VAR_065825
Natural variant10531R → P.
Corresponds to variant rs10274334 [ dbSNP | Ensembl ].
VAR_024567
Natural variant12721K → E.
Corresponds to variant rs1470859 [ dbSNP | Ensembl ].
VAR_024568
Natural variant20571R → H.
Corresponds to variant rs17131834 [ dbSNP | Ensembl ].
VAR_061523
Natural variant24101E → K.
Corresponds to variant rs2290386 [ dbSNP | Ensembl ].
VAR_021944
Natural variant26031L → F.
Corresponds to variant rs59848490 [ dbSNP | Ensembl ].
VAR_061524
Natural variant26851A → T.
Corresponds to variant rs13231277 [ dbSNP | Ensembl ].
VAR_050554

Sequences

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

Last modified June 1, 2002. Version 1.
Checksum: A0E60E88E7DDAA75

FASTA2,849315,435
        10         20         30         40         50         60 
MAEEAAQNIS DDQERCLQAA CCLSFGGELS VSTDKSWGLH LCSCSPPGGG LWVEVYANHV 

        70         80         90        100        110        120 
LLMSDGKCGC PWCALNGKAE DRESQSPSSS ASRQKNIWKT TSEAALSVVN EKTQAVVNEK 

       130        140        150        160        170        180 
TQAPLDCDNS ADRIPHKPFI IIARAWSSGG PRFHHRRLCA TGTADSTFSA LLQLQGTTSA 

       190        200        210        220        230        240 
AAPCSLKMEA SCCVLRLLCC AEDVATGLLP GTVTMETPTK VARPTQTSSQ RVPLWPISHF 

       250        260        270        280        290        300 
PTSPRSSHGL PPGIPRTPSF TASQSGSEIL YPPTQHPPVA ILARNSDNFM NPVLNCSLEV 

       310        320        330        340        350        360 
EARAPPNLGF RVHMASGEAL CLMMDFGDSS GVEMRLHNMS EAMAVTAYHQ YSKGIFFHLL 

       370        380        390        400        410        420 
HFQLDMSTYK EAETQNTTLN VYLCQSENSC LEDSDPSNLG YELISAFVTK GVYMLKAVIY 

       430        440        450        460        470        480 
NEFHGTEVEL GPYYVEIGHE AVSAFMNSSS VHEDEVLVFA DSQVNQKSTV VIHHFPSIPS 

       490        500        510        520        530        540 
YNVSFISQTQ VGDSQAWHSM TVWYKMQSVS VYTNGTVFAT DTDITFTAVT KETIPLEFEW 

       550        560        570        580        590        600 
YFGEDPPVRT TSRSIKKRLS IPQWYRVMVK ASNRMSSVVS EPHVIRVQKK IVANRLTSPS 

       610        620        630        640        650        660 
SALVNASVAF ECWINFGTDV AYLWDFGDGT VSLGSSSSSH VYSREGEFTV EVLAFNNVSA 

       670        680        690        700        710        720 
STLRQQLFIV CEPCQPPLVK NMGPGKVQIW RSQPVRLGVT FEAAVFCDIS QGLSYTWNLM 

       730        740        750        760        770        780 
DSEGLPVSLP AAVDTHRQTL ILPSHTLEYG NYTALAKVQI EGSVVYSNYC VGLEVRAQAP 

       790        800        810        820        830        840 
VSVISEGTHL FFSRTTSSPI VLRGTQSFDP DDPGATLRYH WECATAGSPA HPCFDSSTAH 

       850        860        870        880        890        900 
QLDAAAPTVS FEAQWLSDSY DQFLVMLRVS SGGRNSSETR VFLSPYPDSA FRFVHISWVS 

       910        920        930        940        950        960 
FKDTFVNWND ELSLQAMCED CSEIPNLSYS WDLFLVNATE KNRIEVPFCR VVGLLGSLGL 

       970        980        990       1000       1010       1020 
GAISESSQLN LLPTEPGTAD PDATTTPFSR EPSPVTLGQP ATSAPRGTPT EPMTGVYWIP 

      1030       1040       1050       1060       1070       1080 
PAGDSAVLGE APEEGSLDLE PGPQSKGSLM TGRSERSQPT HSPDPHLSDF EAYYSDIQEA 

      1090       1100       1110       1120       1130       1140 
IPSGGRQPAK DTSFPGSGPS LSAEESPGDG DNLVDPSLSA GRAEPVLMID WPKALLGRAV 

      1150       1160       1170       1180       1190       1200 
FQGYSSSGIT EQTVTIKPYS LSSGETYVLQ VSVASKHGLL GKAQLYLTVN PAPRDMACQV 

      1210       1220       1230       1240       1250       1260 
QPHHGLEAHT VFSVFCMSGK PDFHYEFSYQ IGNTSKHTLY HGRDTQYYFV LPAGEHLDNY 

      1270       1280       1290       1300       1310       1320 
KVMVSTEITD GKGSKVQPCT VVVTVLPRYH GNDCLGEDLY NSSLKNLSTL QLMGSYTEIR 

      1330       1340       1350       1360       1370       1380 
NYITVITRIL SRLSKEDKTA SCNQWSRIQD ALISSVCRLA FVDQEEMIGS VLMLRDLVSF 

      1390       1400       1410       1420       1430       1440 
SNKLGFMSAV LILKYTRALL AQGQFSGPFV IDKGVRLELI GLISRVWEVS EQENSKEEVY 

      1450       1460       1470       1480       1490       1500 
RHEEGITVIS DLLLGCLSLN HVSTGQMEFR TLLHYNLQSS VQSLGSVQVH LPGDLAGHSP 

      1510       1520       1530       1540       1550       1560 
AGAETQSPCY ISQLILFKKN PYPGSQAPGQ IGGVVGLNLY TCSSRRPINR QWLRKPVMVE 

      1570       1580       1590       1600       1610       1620 
FGEEDGLDNR RNKTTFVLLR DKVNLHQFTE LSENPQESLQ IEIEFSKPVT RAFPVMLLVR 

      1630       1640       1650       1660       1670       1680 
FSEKPTPSDF LVKQIYFWDE SIVQIYIPAA SQKDASVGYL SLLDADYDRK PPNRYLAKAV 

      1690       1700       1710       1720       1730       1740 
NYTVHFQWIR CLFWDKREWK SERFSPQPGT SPEKVNCSYH RLAAFALLRR KLKASFEVSD 

      1750       1760       1770       1780       1790       1800 
ISKLQSHPEN LLPSIFIMGS VILYGFLVAK SRQVDHHEKK KAGYIFLQEA SLPGHQLYAV 

      1810       1820       1830       1840       1850       1860 
VIDTGFRAPA RLTSKVYIVL CGDNGLSETK ELSCPEKPLF ERNSRHTFIL SAPAQLGLLR 

      1870       1880       1890       1900       1910       1920 
KIRLWHDSRG PSPGWFISHV MVKELHTGQG WFFPAQCWLS AGRHDGRVER ELTCLQGGLG 

      1930       1940       1950       1960       1970       1980 
FRKLFYCKFT EYLEDFHVWL SVYSRPSSSR YLHTPRLTVS FSLLCVYACL TALVAAGGQE 

      1990       2000       2010       2020       2030       2040 
QPHLDVSPTL GSFRVGLLCT LLASPGAQLL SLLFRLSKEA PGSARVEPHS PLRGGAQTEA 

      2050       2060       2070       2080       2090       2100 
PHGPNSWGRI PDAQEPRKQP ASAILSGSGR AQRKAASDNG TACPAPKLQV HGADHSRTSL 

      2110       2120       2130       2140       2150       2160 
MGKSHCCPPH TQAPSSGLEG LMPQWSRALQ PWWSSAVWAI CGTASLACSL GTGFLAYRFG 

      2170       2180       2190       2200       2210       2220 
QEQCVQWLHL LSLSVVCCIF ITQPLMVCLM ALGFAWKRRA DNHFFTESLC EATRDLDSEL 

      2230       2240       2250       2260       2270       2280 
AERSWTRLPF SSSCSIPDCA GEVEKVLAAR QQARHLRWAH PPSKAQLRGT RQRMRRESRT 

      2290       2300       2310       2320       2330       2340 
RAALRDISMD ILMLLLLLCV IYGRFSQDEY SLNQAIRKEF TRNARNCLGG LRNIADWWDW 

      2350       2360       2370       2380       2390       2400 
SLTTLLDGLY PGGTPSARVP GAQPGALGGK CYLIGSSVIR QLKVFPRHLC KPPRPFSALI 

      2410       2420       2430       2440       2450       2460 
EDSIPTCSPE VGGPENPYLI DPENQNVTLN GPGGCGTRED CVLSLGRTRT EAHTALSRLR 

      2470       2480       2490       2500       2510       2520 
ASMWIDRSTR AVSVHFTLYN PPTQLFTSVS LRVEILPTGS LVPSSLVESF SIFRSDSALQ 

      2530       2540       2550       2560       2570       2580 
YHLMLPQLVF LALSLIHLCV QLYRMMDKGV LSYWRKPRNW LELSVVGVSL TYYAVSGHLV 

      2590       2600       2610       2620       2630       2640 
TLAGDVTNQF HRGLCRAFMD LTLMASWNQR ARWLRGILLF LFTLKCVYLP GIQNTMASCS 

      2650       2660       2670       2680       2690       2700 
SMMRHSLPSI FVAGLVGALM LAALSHLHRF LLSMWVLPPG TFTDAFPGLL FHFPRRSQKD 

      2710       2720       2730       2740       2750       2760 
CLLGLSKSDQ RAMACYFGIL LIVSATLCFG MLRGFLMTLP QKRKSFQSKS FVRLKDVTAY 

      2770       2780       2790       2800       2810       2820 
MWEKVLTFLR LETPKLEEAE MVENHNYYLD EFANLLDELL MKINGLSDSL QLPLLEKTSN 

      2830       2840 
NTGEARTEES PLVDISSYQA AEPADIKDF 

« Hide

Isoform 2 [UniParc].

Checksum: 2009B3589823C438
Show »

FASTA2,573284,308

References

« Hide 'large scale' references
[1]"The sequence, expression, and chromosomal localization of a novel polycystic kidney disease 1-like gene, PKD1L1, in human."
Yuasa T., Venugopal B., Weremowicz S., Morton C.C., Guo L., Zhou J.
Genomics 79:376-386(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
Tissue: Testis.
[2]"The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment."
Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J., Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P., Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E. expand/collapse author list , Heldens S., Huang A., Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J., Lewis L., Liao D., Mark M.R., Robbie E., Sanchez C., Schoenfeld J., Seshagiri S., Simmons L., Singh J., Smith V., Stinson J., Vagts A., Vandlen R.L., Watanabe C., Wieand D., Woods K., Xie M.-H., Yansura D.G., Yi S., Yu G., Yuan J., Zhang M., Zhang Z., Goddard A.D., Wood W.I., Godowski P.J., Gray A.M.
Genome Res. 13:2265-2270(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 2247-2573 (ISOFORM 2).
[3]"Direct recording and molecular identification of the calcium channel of primary cilia."
DeCaen P.G., Delling M., Vien T.N., Clapham D.E.
Nature 504:315-318(2013) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, INTERACTION WITH PKD2L1, SUBCELLULAR LOCATION.
[4]"BMPER mutation in diaphanospondylodysostosis identified by ancestral autozygosity mapping and targeted high-throughput sequencing."
Funari V.A., Krakow D., Nevarez L., Chen Z., Funari T.L., Vatanavicharn N., Wilcox W.R., Rimoin D.L., Nelson S.F., Cohn D.H.
Am. J. Hum. Genet. 87:532-537(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT ILE-906.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AB061683 mRNA. Translation: BAB85807.1.
AY358757 mRNA. Translation: AAQ89117.1. Different initiation.
RefSeqNP_612152.1. NM_138295.3.
UniGeneHs.195979.

3D structure databases

ProteinModelPortalQ8TDX9.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

MINTMINT-5002126.
STRING9606.ENSP00000289672.

Protein family/group databases

TCDB1.A.5.1.3. the polycystin cation channel (pcc) family.

PTM databases

PhosphoSiteQ8TDX9.

Polymorphism databases

DMDM23821932.

Proteomic databases

PaxDbQ8TDX9.
PRIDEQ8TDX9.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000289672; ENSP00000289672; ENSG00000158683. [Q8TDX9-1]
GeneID168507.
KEGGhsa:168507.
UCSCuc003tny.2. human. [Q8TDX9-1]

Organism-specific databases

CTD168507.
GeneCardsGC07M047780.
HGNCHGNC:18053. PKD1L1.
HPAHPA020422.
HPA022424.
MIM609721. gene.
neXtProtNX_Q8TDX9.
PharmGKBPA38282.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG235534.
HOGENOMHOG000115551.
HOVERGENHBG053602.
InParanoidQ8TDX9.
KOK04987.
OMAHTFILSA.
OrthoDBEOG7WHH8K.
PhylomeDBQ8TDX9.
TreeFamTF316484.

Gene expression databases

BgeeQ8TDX9.
CleanExHS_PKD1L1.
GenevestigatorQ8TDX9.

Family and domain databases

Gene3D2.60.40.670. 1 hit.
2.60.60.20. 1 hit.
InterProIPR008976. Lipase_LipOase.
IPR022409. PKD/Chitinase_dom.
IPR002859. PKD/REJ-like.
IPR013122. PKD1_2_channel.
IPR000601. PKD_dom.
IPR001024. PLAT/LH2_dom.
IPR014010. REJ-like.
[Graphical view]
PfamPF00801. PKD. 1 hit.
PF08016. PKD_channel. 1 hit.
PF01477. PLAT. 1 hit.
PF02010. REJ. 1 hit.
[Graphical view]
SMARTSM00089. PKD. 2 hits.
[Graphical view]
SUPFAMSSF49299. SSF49299. 1 hit.
SSF49723. SSF49723. 1 hit.
PROSITEPS50093. PKD. 1 hit.
PS50095. PLAT. 1 hit.
PS51111. REJ. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi168507.
NextBio88750.
PROQ8TDX9.
SOURCESearch...

Entry information

Entry namePK1L1_HUMAN
AccessionPrimary (citable) accession number: Q8TDX9
Secondary accession number(s): Q6UWK1
Entry history
Integrated into UniProtKB/Swiss-Prot: October 10, 2002
Last sequence update: June 1, 2002
Last modified: April 16, 2014
This is version 107 of the entry and version 1 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 7

Human chromosome 7: entries, gene names and cross-references to MIM