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Q8TDX9

- PK1L1_HUMAN

UniProt

Q8TDX9 - PK1L1_HUMAN

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Protein

Polycystic kidney disease protein 1-like 1

Gene

PKD1L1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- 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

  1. calcium channel activity Source: UniProtKB

GO - Biological processi

  1. detection of mechanical stimulus Source: RefGenome
  2. detection of nodal flow Source: BHF-UCL
  3. left/right axis specification Source: BHF-UCL
  4. single organismal cell-cell adhesion Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Calcium channel, Ion channel

Keywords - Biological processi

Calcium transport, Ion transport, Transport

Keywords - Ligandi

Calcium

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
ProteomesiUP000005640: Chromosome 7

Organism-specific databases

HGNCiHGNC:18053. PKD1L1.

Subcellular locationi

Cell projectioncilium membrane 1 Publication; Multi-pass membrane protein 1 Publication

GO - Cellular componenti

  1. calcium channel complex Source: UniProtKB
  2. cilium Source: BHF-UCL
  3. membrane Source: UniProtKB
  4. nonmotile primary cilium Source: UniProtKB
  5. plasma membrane Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Cell projection, Cilium, Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA38282.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 28492849Polycystic kidney disease protein 1-like 1PRO_0000164358Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi8 – 81N-linked (GlcNAc...)Sequence Analysis
Glycosylationi295 – 2951N-linked (GlcNAc...)Sequence Analysis
Glycosylationi338 – 3381N-linked (GlcNAc...)Sequence Analysis
Glycosylationi376 – 3761N-linked (GlcNAc...)Sequence Analysis
Glycosylationi447 – 4471N-linked (GlcNAc...)Sequence Analysis
Glycosylationi482 – 4821N-linked (GlcNAc...)Sequence Analysis
Glycosylationi514 – 5141N-linked (GlcNAc...)Sequence Analysis
Glycosylationi605 – 6051N-linked (GlcNAc...)Sequence Analysis
Glycosylationi657 – 6571N-linked (GlcNAc...)Sequence Analysis
Glycosylationi751 – 7511N-linked (GlcNAc...)Sequence Analysis
Glycosylationi875 – 8751N-linked (GlcNAc...)Sequence Analysis
Glycosylationi926 – 9261N-linked (GlcNAc...)Sequence Analysis
Glycosylationi937 – 9371N-linked (GlcNAc...)Sequence Analysis
Glycosylationi1233 – 12331N-linked (GlcNAc...)Sequence Analysis
Glycosylationi1301 – 13011N-linked (GlcNAc...)Sequence Analysis
Glycosylationi1306 – 13061N-linked (GlcNAc...)Sequence Analysis
Glycosylationi1572 – 15721N-linked (GlcNAc...)Sequence Analysis
Glycosylationi1681 – 16811N-linked (GlcNAc...)Sequence Analysis
Glycosylationi1716 – 17161N-linked (GlcNAc...)Sequence Analysis
Glycosylationi2426 – 24261N-linked (GlcNAc...)Sequence Analysis

Keywords - PTMi

Glycoprotein

Proteomic databases

PaxDbiQ8TDX9.
PRIDEiQ8TDX9.

PTM databases

PhosphoSiteiQ8TDX9.

Expressioni

Tissue specificityi

Detected in testis and in fetal and adult heart.

Gene expression databases

BgeeiQ8TDX9.
CleanExiHS_PKD1L1.
GenevestigatoriQ8TDX9.

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

MINTiMINT-5002126.
STRINGi9606.ENSP00000289672.

Structurei

3D structure databases

ProteinModelPortaliQ8TDX9.
ModBaseiSearch...
MobiDBiSearch...

Topological domain

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 17481748ExtracellularSequence AnalysisAdd
BLAST
Topological domaini1770 – 1956187CytoplasmicSequence AnalysisAdd
BLAST
Topological domaini1978 – 199215ExtracellularSequence AnalysisAdd
BLAST
Topological domaini2014 – 2135122CytoplasmicSequence AnalysisAdd
BLAST
Topological domaini2157 – 217418ExtracellularSequence AnalysisAdd
BLAST
Topological domaini2196 – 228186CytoplasmicSequence AnalysisAdd
BLAST
Topological domaini2303 – 2522220ExtracellularSequence AnalysisAdd
BLAST
Topological domaini2544 – 256219CytoplasmicSequence AnalysisAdd
BLAST
Topological domaini2584 – 261633ExtracellularSequence AnalysisAdd
BLAST
Topological domaini2638 – 26469CytoplasmicSequence Analysis
Topological domaini2668 – 271144ExtracellularSequence AnalysisAdd
BLAST
Topological domaini2733 – 2849117CytoplasmicSequence AnalysisAdd
BLAST

Transmembrane

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei1749 – 176921HelicalSequence AnalysisAdd
BLAST
Transmembranei1957 – 197721HelicalSequence AnalysisAdd
BLAST
Transmembranei1993 – 201321HelicalSequence AnalysisAdd
BLAST
Transmembranei2136 – 215621HelicalSequence AnalysisAdd
BLAST
Transmembranei2175 – 219521HelicalSequence AnalysisAdd
BLAST
Transmembranei2282 – 230221HelicalSequence AnalysisAdd
BLAST
Transmembranei2523 – 254321HelicalSequence AnalysisAdd
BLAST
Transmembranei2563 – 258321HelicalSequence AnalysisAdd
BLAST
Transmembranei2617 – 263721HelicalSequence AnalysisAdd
BLAST
Transmembranei2647 – 266721HelicalSequence AnalysisAdd
BLAST
Transmembranei2712 – 273221HelicalSequence AnalysisAdd
BLAST

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini508 – 59083PKD 1PROSITE-ProRule annotationAdd
BLAST
Domaini592 – 67382PKD 2PROSITE-ProRule annotationAdd
BLAST
Domaini674 – 1571898REJPROSITE-ProRule annotationAdd
BLAST
Domaini1688 – 173447GPSAdd
BLAST
Domaini1796 – 1913118PLATPROSITE-ProRule annotationAdd
BLAST

Sequence similaritiesi

Belongs to the polycystin family.Curated
Contains 1 GPS domain.Curated
Contains 2 PKD domains.PROSITE-ProRule annotation
Contains 1 PLAT domain.PROSITE-ProRule annotation
Contains 1 REJ domain.PROSITE-ProRule annotation

Keywords - Domaini

Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG235534.
GeneTreeiENSGT00700000104221.
HOGENOMiHOG000115551.
HOVERGENiHBG053602.
InParanoidiQ8TDX9.
KOiK04987.
OMAiHTFILSA.
OrthoDBiEOG7WHH8K.
PhylomeDBiQ8TDX9.
TreeFamiTF316484.

Family and domain databases

Gene3Di2.60.40.670. 1 hit.
2.60.60.20. 1 hit.
InterProiIPR008976. 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]
PfamiPF00801. PKD. 1 hit.
PF08016. PKD_channel. 1 hit.
PF01477. PLAT. 1 hit.
PF02010. REJ. 1 hit.
[Graphical view]
SMARTiSM00089. PKD. 2 hits.
[Graphical view]
SUPFAMiSSF49299. SSF49299. 1 hit.
SSF49723. SSF49723. 1 hit.
PROSITEiPS50093. PKD. 1 hit.
PS50095. PLAT. 1 hit.
PS51111. REJ. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

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

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti312 – 3121V → F.
Corresponds to variant rs2686817 [ dbSNP | Ensembl ].
VAR_024566
Natural varianti812 – 8121D → N.
Corresponds to variant rs17131915 [ dbSNP | Ensembl ].
VAR_050552
Natural varianti879 – 8791T → A.
Corresponds to variant rs11972142 [ dbSNP | Ensembl ].
VAR_050553
Natural varianti894 – 8941V → I.
Corresponds to variant rs56100904 [ dbSNP | Ensembl ].
VAR_061522
Natural varianti906 – 9061V → I.1 Publication
VAR_065825
Natural varianti1053 – 10531R → P.
Corresponds to variant rs10274334 [ dbSNP | Ensembl ].
VAR_024567
Natural varianti1272 – 12721K → E.
Corresponds to variant rs1470859 [ dbSNP | Ensembl ].
VAR_024568
Natural varianti2057 – 20571R → H.
Corresponds to variant rs17131834 [ dbSNP | Ensembl ].
VAR_061523
Natural varianti2410 – 24101E → K.
Corresponds to variant rs2290386 [ dbSNP | Ensembl ].
VAR_021944
Natural varianti2603 – 26031L → F.
Corresponds to variant rs59848490 [ dbSNP | Ensembl ].
VAR_061524
Natural varianti2685 – 26851A → T.
Corresponds to variant rs13231277 [ dbSNP | Ensembl ].
VAR_050554

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei2563 – 257311LSVVGVSLTYY → VASLVSFSFEK in isoform 2. 1 PublicationVSP_013215Add
BLAST
Alternative sequencei2574 – 2849276Missing in isoform 2. 1 PublicationVSP_013216Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AB061683 mRNA. Translation: BAB85807.1.
AY358757 mRNA. Translation: AAQ89117.1. Different initiation.
CCDSiCCDS34633.1. [Q8TDX9-1]
RefSeqiNP_612152.1. NM_138295.3. [Q8TDX9-1]
UniGeneiHs.195979.

Genome annotation databases

EnsembliENST00000289672; ENSP00000289672; ENSG00000158683. [Q8TDX9-1]
GeneIDi168507.
KEGGihsa:168507.
UCSCiuc003tny.2. human. [Q8TDX9-1]

Polymorphism databases

DMDMi23821932.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AB061683 mRNA. Translation: BAB85807.1 .
AY358757 mRNA. Translation: AAQ89117.1 . Different initiation.
CCDSi CCDS34633.1. [Q8TDX9-1 ]
RefSeqi NP_612152.1. NM_138295.3. [Q8TDX9-1 ]
UniGenei Hs.195979.

3D structure databases

ProteinModelPortali Q8TDX9.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

MINTi MINT-5002126.
STRINGi 9606.ENSP00000289672.

Protein family/group databases

TCDBi 1.A.5.1.3. the polycystin cation channel (pcc) family.

PTM databases

PhosphoSitei Q8TDX9.

Polymorphism databases

DMDMi 23821932.

Proteomic databases

PaxDbi Q8TDX9.
PRIDEi Q8TDX9.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000289672 ; ENSP00000289672 ; ENSG00000158683 . [Q8TDX9-1 ]
GeneIDi 168507.
KEGGi hsa:168507.
UCSCi uc003tny.2. human. [Q8TDX9-1 ]

Organism-specific databases

CTDi 168507.
GeneCardsi GC07M047780.
HGNCi HGNC:18053. PKD1L1.
HPAi HPA020422.
HPA022424.
MIMi 609721. gene.
neXtProti NX_Q8TDX9.
PharmGKBi PA38282.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG235534.
GeneTreei ENSGT00700000104221.
HOGENOMi HOG000115551.
HOVERGENi HBG053602.
InParanoidi Q8TDX9.
KOi K04987.
OMAi HTFILSA.
OrthoDBi EOG7WHH8K.
PhylomeDBi Q8TDX9.
TreeFami TF316484.

Miscellaneous databases

GenomeRNAii 168507.
NextBioi 88750.
PROi Q8TDX9.
SOURCEi Search...

Gene expression databases

Bgeei Q8TDX9.
CleanExi HS_PKD1L1.
Genevestigatori Q8TDX9.

Family and domain databases

Gene3Di 2.60.40.670. 1 hit.
2.60.60.20. 1 hit.
InterProi IPR008976. 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 ]
Pfami PF00801. PKD. 1 hit.
PF08016. PKD_channel. 1 hit.
PF01477. PLAT. 1 hit.
PF02010. REJ. 1 hit.
[Graphical view ]
SMARTi SM00089. PKD. 2 hits.
[Graphical view ]
SUPFAMi SSF49299. SSF49299. 1 hit.
SSF49723. SSF49723. 1 hit.
PROSITEi PS50093. PKD. 1 hit.
PS50095. PLAT. 1 hit.
PS51111. REJ. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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. 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.

Entry informationi

Entry nameiPK1L1_HUMAN
AccessioniPrimary (citable) accession number: Q8TDX9
Secondary accession number(s): Q6UWK1
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 10, 2002
Last sequence update: June 1, 2002
Last modified: October 29, 2014
This is version 112 of the entry and version 1 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 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

External Data

Dasty 3