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Protein

Polycystic kidney disease protein 1-like 1

Gene

PKD1L1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

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.1 Publication

GO - Molecular functioni

  • calcium channel activity Source: UniProtKB

GO - Biological processi

Keywordsi

Molecular functionCalcium channel, Ion channel
Biological processCalcium transport, Ion transport, Transport
LigandCalcium

Protein family/group databases

TCDBi1.A.5.1.3 the polycystin cation channel (pcc) family

Names & Taxonomyi

Protein namesi
Recommended name:
Polycystic kidney disease protein 1-like 1
Alternative name(s):
PC1-like 1 protein
Polycystin-1L1
Gene namesi
Name:PKD1L1
ORF Names:UNQ5785/PRO19563
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi

Organism-specific databases

EuPathDBiHostDB:ENSG00000158683.7
HGNCiHGNC:18053 PKD1L1
MIMi609721 gene
neXtProtiNX_Q8TDX9

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 1748ExtracellularSequence analysisAdd BLAST1748
Transmembranei1749 – 1769HelicalSequence analysisAdd BLAST21
Topological domaini1770 – 1956CytoplasmicSequence analysisAdd BLAST187
Transmembranei1957 – 1977HelicalSequence analysisAdd BLAST21
Topological domaini1978 – 1992ExtracellularSequence analysisAdd BLAST15
Transmembranei1993 – 2013HelicalSequence analysisAdd BLAST21
Topological domaini2014 – 2135CytoplasmicSequence analysisAdd BLAST122
Transmembranei2136 – 2156HelicalSequence analysisAdd BLAST21
Topological domaini2157 – 2174ExtracellularSequence analysisAdd BLAST18
Transmembranei2175 – 2195HelicalSequence analysisAdd BLAST21
Topological domaini2196 – 2281CytoplasmicSequence analysisAdd BLAST86
Transmembranei2282 – 2302HelicalSequence analysisAdd BLAST21
Topological domaini2303 – 2522ExtracellularSequence analysisAdd BLAST220
Transmembranei2523 – 2543HelicalSequence analysisAdd BLAST21
Topological domaini2544 – 2562CytoplasmicSequence analysisAdd BLAST19
Transmembranei2563 – 2583HelicalSequence analysisAdd BLAST21
Topological domaini2584 – 2616ExtracellularSequence analysisAdd BLAST33
Transmembranei2617 – 2637HelicalSequence analysisAdd BLAST21
Topological domaini2638 – 2646CytoplasmicSequence analysis9
Transmembranei2647 – 2667HelicalSequence analysisAdd BLAST21
Topological domaini2668 – 2711ExtracellularSequence analysisAdd BLAST44
Transmembranei2712 – 2732HelicalSequence analysisAdd BLAST21
Topological domaini2733 – 2849CytoplasmicSequence analysisAdd BLAST117

Keywords - Cellular componenti

Cell membrane, Cell projection, Cilium, Membrane

Pathology & Biotechi

Involvement in diseasei

Heterotaxy, visceral, 8, autosomal (HTX8)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of visceral heterotaxy, a complex disorder due to disruption of the normal left-right asymmetry of the thoracoabdominal organs. Visceral heterotaxy or situs ambiguus results in randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach. The organs are oriented randomly with respect to the left-right axis and with respect to one another. It can been associated with a variety of congenital defects including cardiac malformations. HTX8 inheritance is autosomal recessive.
See also OMIM:617205
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0778791691C → S in HTX8. 1 PublicationCorresponds to variant dbSNP:rs886037834EnsemblClinVar.1

Keywords - Diseasei

Heterotaxy

Organism-specific databases

DisGeNETi168507
MalaCardsiPKD1L1
MIMi617205 phenotype
OpenTargetsiENSG00000158683
PharmGKBiPA38282

Polymorphism and mutation databases

BioMutaiPKD1L1
DMDMi23821932

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001643581 – 2849Polycystic kidney disease protein 1-like 1Add BLAST2849

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi8N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi295N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi338N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi376N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi447N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi482N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi514N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi605N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi657N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi751N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi875N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi926N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi937N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1233N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1301N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1306N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1572N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1681N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1716N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi2426N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

EPDiQ8TDX9
PaxDbiQ8TDX9
PeptideAtlasiQ8TDX9
PRIDEiQ8TDX9

PTM databases

iPTMnetiQ8TDX9
PhosphoSitePlusiQ8TDX9

Expressioni

Tissue specificityi

Detected in testis and in fetal and adult heart.

Gene expression databases

BgeeiENSG00000158683
CleanExiHS_PKD1L1
ExpressionAtlasiQ8TDX9 baseline and differential
GenevisibleiQ8TDX9 HS

Organism-specific databases

HPAiHPA020422
HPA022424

Interactioni

Subunit structurei

Heterodimer; heterodimerizes with PKD2 proteins to form a calcium channel. Interacts with PKD2L1; to form ciliary calcium channel. Interacts with PKD2.1 Publication

Protein-protein interaction databases

BioGridi127967, 1 interactor
STRINGi9606.ENSP00000289672

Structurei

3D structure databases

ProteinModelPortaliQ8TDX9
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini508 – 590PKD 1PROSITE-ProRule annotationAdd BLAST83
Domaini592 – 673PKD 2PROSITE-ProRule annotationAdd BLAST82
Domaini674 – 1571REJPROSITE-ProRule annotationAdd BLAST898
Domaini1688 – 1734GPSAdd BLAST47
Domaini1796 – 1913PLATPROSITE-ProRule annotationAdd BLAST118

Sequence similaritiesi

Belongs to the polycystin family.Curated

Keywords - Domaini

Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IQ5F Eukaryota
ENOG410ZBZ7 LUCA
GeneTreeiENSGT00700000104221
HOGENOMiHOG000115551
HOVERGENiHBG053602
InParanoidiQ8TDX9
KOiK04987
OMAiEFSYQIG
OrthoDBiEOG091G004D
PhylomeDBiQ8TDX9
TreeFamiTF316484

Family and domain databases

Gene3Di2.60.40.10, 1 hit
InterProiView protein in InterPro
IPR013783 Ig-like_fold
IPR022409 PKD/Chitinase_dom
IPR002859 PKD/REJ-like
IPR013122 PKD1_2_channel
IPR000601 PKD_dom
IPR035986 PKD_dom_sf
IPR001024 PLAT/LH2_dom
IPR036392 PLAT/LH2_dom_sf
IPR014010 REJ_dom
PfamiView protein in Pfam
PF00801 PKD, 1 hit
PF08016 PKD_channel, 1 hit
PF01477 PLAT, 1 hit
PF02010 REJ, 1 hit
SMARTiView protein in SMART
SM00308 LH2, 1 hit
SM00089 PKD, 2 hits
SUPFAMiSSF49299 SSF49299, 1 hit
SSF49723 SSF49723, 1 hit
PROSITEiView protein in PROSITE
PS50093 PKD, 1 hit
PS50095 PLAT, 1 hit
PS51111 REJ, 1 hit

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q8TDX9-1) [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
MAEEAAQNIS DDQERCLQAA CCLSFGGELS VSTDKSWGLH LCSCSPPGGG
60 70 80 90 100
LWVEVYANHV LLMSDGKCGC PWCALNGKAE DRESQSPSSS ASRQKNIWKT
110 120 130 140 150
TSEAALSVVN EKTQAVVNEK TQAPLDCDNS ADRIPHKPFI IIARAWSSGG
160 170 180 190 200
PRFHHRRLCA TGTADSTFSA LLQLQGTTSA AAPCSLKMEA SCCVLRLLCC
210 220 230 240 250
AEDVATGLLP GTVTMETPTK VARPTQTSSQ RVPLWPISHF PTSPRSSHGL
260 270 280 290 300
PPGIPRTPSF TASQSGSEIL YPPTQHPPVA ILARNSDNFM NPVLNCSLEV
310 320 330 340 350
EARAPPNLGF RVHMASGEAL CLMMDFGDSS GVEMRLHNMS EAMAVTAYHQ
360 370 380 390 400
YSKGIFFHLL HFQLDMSTYK EAETQNTTLN VYLCQSENSC LEDSDPSNLG
410 420 430 440 450
YELISAFVTK GVYMLKAVIY NEFHGTEVEL GPYYVEIGHE AVSAFMNSSS
460 470 480 490 500
VHEDEVLVFA DSQVNQKSTV VIHHFPSIPS YNVSFISQTQ VGDSQAWHSM
510 520 530 540 550
TVWYKMQSVS VYTNGTVFAT DTDITFTAVT KETIPLEFEW YFGEDPPVRT
560 570 580 590 600
TSRSIKKRLS IPQWYRVMVK ASNRMSSVVS EPHVIRVQKK IVANRLTSPS
610 620 630 640 650
SALVNASVAF ECWINFGTDV AYLWDFGDGT VSLGSSSSSH VYSREGEFTV
660 670 680 690 700
EVLAFNNVSA STLRQQLFIV CEPCQPPLVK NMGPGKVQIW RSQPVRLGVT
710 720 730 740 750
FEAAVFCDIS QGLSYTWNLM DSEGLPVSLP AAVDTHRQTL ILPSHTLEYG
760 770 780 790 800
NYTALAKVQI EGSVVYSNYC VGLEVRAQAP VSVISEGTHL FFSRTTSSPI
810 820 830 840 850
VLRGTQSFDP DDPGATLRYH WECATAGSPA HPCFDSSTAH QLDAAAPTVS
860 870 880 890 900
FEAQWLSDSY DQFLVMLRVS SGGRNSSETR VFLSPYPDSA FRFVHISWVS
910 920 930 940 950
FKDTFVNWND ELSLQAMCED CSEIPNLSYS WDLFLVNATE KNRIEVPFCR
960 970 980 990 1000
VVGLLGSLGL GAISESSQLN LLPTEPGTAD PDATTTPFSR EPSPVTLGQP
1010 1020 1030 1040 1050
ATSAPRGTPT EPMTGVYWIP PAGDSAVLGE APEEGSLDLE PGPQSKGSLM
1060 1070 1080 1090 1100
TGRSERSQPT HSPDPHLSDF EAYYSDIQEA IPSGGRQPAK DTSFPGSGPS
1110 1120 1130 1140 1150
LSAEESPGDG DNLVDPSLSA GRAEPVLMID WPKALLGRAV FQGYSSSGIT
1160 1170 1180 1190 1200
EQTVTIKPYS LSSGETYVLQ VSVASKHGLL GKAQLYLTVN PAPRDMACQV
1210 1220 1230 1240 1250
QPHHGLEAHT VFSVFCMSGK PDFHYEFSYQ IGNTSKHTLY HGRDTQYYFV
1260 1270 1280 1290 1300
LPAGEHLDNY KVMVSTEITD GKGSKVQPCT VVVTVLPRYH GNDCLGEDLY
1310 1320 1330 1340 1350
NSSLKNLSTL QLMGSYTEIR NYITVITRIL SRLSKEDKTA SCNQWSRIQD
1360 1370 1380 1390 1400
ALISSVCRLA FVDQEEMIGS VLMLRDLVSF SNKLGFMSAV LILKYTRALL
1410 1420 1430 1440 1450
AQGQFSGPFV IDKGVRLELI GLISRVWEVS EQENSKEEVY RHEEGITVIS
1460 1470 1480 1490 1500
DLLLGCLSLN HVSTGQMEFR TLLHYNLQSS VQSLGSVQVH LPGDLAGHSP
1510 1520 1530 1540 1550
AGAETQSPCY ISQLILFKKN PYPGSQAPGQ IGGVVGLNLY TCSSRRPINR
1560 1570 1580 1590 1600
QWLRKPVMVE FGEEDGLDNR RNKTTFVLLR DKVNLHQFTE LSENPQESLQ
1610 1620 1630 1640 1650
IEIEFSKPVT RAFPVMLLVR FSEKPTPSDF LVKQIYFWDE SIVQIYIPAA
1660 1670 1680 1690 1700
SQKDASVGYL SLLDADYDRK PPNRYLAKAV NYTVHFQWIR CLFWDKREWK
1710 1720 1730 1740 1750
SERFSPQPGT SPEKVNCSYH RLAAFALLRR KLKASFEVSD ISKLQSHPEN
1760 1770 1780 1790 1800
LLPSIFIMGS VILYGFLVAK SRQVDHHEKK KAGYIFLQEA SLPGHQLYAV
1810 1820 1830 1840 1850
VIDTGFRAPA RLTSKVYIVL CGDNGLSETK ELSCPEKPLF ERNSRHTFIL
1860 1870 1880 1890 1900
SAPAQLGLLR KIRLWHDSRG PSPGWFISHV MVKELHTGQG WFFPAQCWLS
1910 1920 1930 1940 1950
AGRHDGRVER ELTCLQGGLG FRKLFYCKFT EYLEDFHVWL SVYSRPSSSR
1960 1970 1980 1990 2000
YLHTPRLTVS FSLLCVYACL TALVAAGGQE QPHLDVSPTL GSFRVGLLCT
2010 2020 2030 2040 2050
LLASPGAQLL SLLFRLSKEA PGSARVEPHS PLRGGAQTEA PHGPNSWGRI
2060 2070 2080 2090 2100
PDAQEPRKQP ASAILSGSGR AQRKAASDNG TACPAPKLQV HGADHSRTSL
2110 2120 2130 2140 2150
MGKSHCCPPH TQAPSSGLEG LMPQWSRALQ PWWSSAVWAI CGTASLACSL
2160 2170 2180 2190 2200
GTGFLAYRFG QEQCVQWLHL LSLSVVCCIF ITQPLMVCLM ALGFAWKRRA
2210 2220 2230 2240 2250
DNHFFTESLC EATRDLDSEL AERSWTRLPF SSSCSIPDCA GEVEKVLAAR
2260 2270 2280 2290 2300
QQARHLRWAH PPSKAQLRGT RQRMRRESRT RAALRDISMD ILMLLLLLCV
2310 2320 2330 2340 2350
IYGRFSQDEY SLNQAIRKEF TRNARNCLGG LRNIADWWDW SLTTLLDGLY
2360 2370 2380 2390 2400
PGGTPSARVP GAQPGALGGK CYLIGSSVIR QLKVFPRHLC KPPRPFSALI
2410 2420 2430 2440 2450
EDSIPTCSPE VGGPENPYLI DPENQNVTLN GPGGCGTRED CVLSLGRTRT
2460 2470 2480 2490 2500
EAHTALSRLR ASMWIDRSTR AVSVHFTLYN PPTQLFTSVS LRVEILPTGS
2510 2520 2530 2540 2550
LVPSSLVESF SIFRSDSALQ YHLMLPQLVF LALSLIHLCV QLYRMMDKGV
2560 2570 2580 2590 2600
LSYWRKPRNW LELSVVGVSL TYYAVSGHLV TLAGDVTNQF HRGLCRAFMD
2610 2620 2630 2640 2650
LTLMASWNQR ARWLRGILLF LFTLKCVYLP GIQNTMASCS SMMRHSLPSI
2660 2670 2680 2690 2700
FVAGLVGALM LAALSHLHRF LLSMWVLPPG TFTDAFPGLL FHFPRRSQKD
2710 2720 2730 2740 2750
CLLGLSKSDQ RAMACYFGIL LIVSATLCFG MLRGFLMTLP QKRKSFQSKS
2760 2770 2780 2790 2800
FVRLKDVTAY MWEKVLTFLR LETPKLEEAE MVENHNYYLD EFANLLDELL
2810 2820 2830 2840
MKINGLSDSL QLPLLEKTSN NTGEARTEES PLVDISSYQA AEPADIKDF
Note: No experimental confirmation available.
Length:2,849
Mass (Da):315,435
Last modified:June 1, 2002 - v1
Checksum:iA0E60E88E7DDAA75
GO
Isoform 2 (identifier: Q8TDX9-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     2563-2573: LSVVGVSLTYY → VASLVSFSFEK
     2574-2849: Missing.

Note: No experimental confirmation available.
Show »
Length:2,573
Mass (Da):284,308
Checksum:i2009B3589823C438
GO

Sequence cautioni

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

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_024566312V → F. Corresponds to variant dbSNP:rs2686817Ensembl.1
Natural variantiVAR_050552812D → N. Corresponds to variant dbSNP:rs17131915Ensembl.1
Natural variantiVAR_050553879T → A. Corresponds to variant dbSNP:rs11972142Ensembl.1
Natural variantiVAR_061522894V → I. Corresponds to variant dbSNP:rs56100904Ensembl.1
Natural variantiVAR_065825906V → I1 PublicationCorresponds to variant dbSNP:rs141681038Ensembl.1
Natural variantiVAR_0245671053R → P. Corresponds to variant dbSNP:rs10274334Ensembl.1
Natural variantiVAR_0245681272K → E. Corresponds to variant dbSNP:rs1470859Ensembl.1
Natural variantiVAR_0778791691C → S in HTX8. 1 PublicationCorresponds to variant dbSNP:rs886037834EnsemblClinVar.1
Natural variantiVAR_0615232057R → H. Corresponds to variant dbSNP:rs17131834Ensembl.1
Natural variantiVAR_0219442410E → K. Corresponds to variant dbSNP:rs2290386Ensembl.1
Natural variantiVAR_0615242603L → F. Corresponds to variant dbSNP:rs59848490Ensembl.1
Natural variantiVAR_0505542685A → T. Corresponds to variant dbSNP:rs13231277Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0132152563 – 2573LSVVGVSLTYY → VASLVSFSFEK in isoform 2. 1 PublicationAdd BLAST11
Alternative sequenceiVSP_0132162574 – 2849Missing in isoform 2. 1 PublicationAdd BLAST276

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB061683 mRNA Translation: BAB85807.1
AY358757 mRNA Translation: AAQ89117.1 Different initiation.
CCDSiCCDS34633.1 [Q8TDX9-1]
RefSeqiNP_612152.1, NM_138295.4 [Q8TDX9-1]
UniGeneiHs.195979

Genome annotation databases

EnsembliENST00000289672; ENSP00000289672; ENSG00000158683 [Q8TDX9-1]
GeneIDi168507
KEGGihsa:168507
UCSCiuc003tny.3 human [Q8TDX9-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Entry informationi

Entry nameiPK1L1_HUMAN
AccessioniPrimary (citable) accession number: Q8TDX9
Secondary accession number(s): Q6UWK1
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 10, 2002
Last sequence update: June 1, 2002
Last modified: March 28, 2018
This is version 142 of the entry and version 1 of the sequence. See 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 7
    Human chromosome 7: 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

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