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Protein

Polycystic kidney disease protein 1-like 1

Gene

Pkd1l1

Organism
Mus musculus (Mouse)
Status
Reviewed-Annotation score: 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.2 Publications

GO - Molecular functioni

GO - Biological processi

  • detection of nodal flow Source: BHF-UCL
  • determination of left/right symmetry Source: MGI
  • heart development Source: MGI
  • left/right axis specification Source: BHF-UCL
  • left/right pattern formation Source: MGI
Complete GO annotation...

Keywords - Molecular functioni

Calcium channel, Ion channel

Keywords - Biological processi

Calcium transport, Ion transport, Transport

Keywords - Ligandi

Calcium

Names & Taxonomyi

Protein namesi
Recommended name:
Polycystic kidney disease protein 1-like 1
Alternative name(s):
PC1-like 1 protein
Polycystin-1L1
Protein rikishi
Gene namesi
Name:Pkd1l1
Synonyms:Rks
OrganismiMus musculus (Mouse)
Taxonomic identifieri10090 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus
Proteomesi
  • UP000000589 Componenti: Unplaced

Organism-specific databases

MGIiMGI:2156538. Pkd1l1.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 15241524ExtracellularSequence analysisAdd
BLAST
Transmembranei1525 – 154521HelicalSequence analysisAdd
BLAST
Topological domaini1546 – 1732187CytoplasmicSequence analysisAdd
BLAST
Transmembranei1733 – 175321HelicalSequence analysisAdd
BLAST
Topological domaini1754 – 177219ExtracellularSequence analysisAdd
BLAST
Transmembranei1773 – 179321HelicalSequence analysisAdd
BLAST
Topological domaini1794 – 1905112CytoplasmicSequence analysisAdd
BLAST
Transmembranei1906 – 192621HelicalSequence analysisAdd
BLAST
Topological domaini1927 – 195024ExtracellularSequence analysisAdd
BLAST
Transmembranei1951 – 197121HelicalSequence analysisAdd
BLAST
Topological domaini1972 – 205786CytoplasmicSequence analysisAdd
BLAST
Transmembranei2058 – 207821HelicalSequence analysisAdd
BLAST
Topological domaini2079 – 2288210ExtracellularSequence analysisAdd
BLAST
Transmembranei2289 – 230921HelicalSequence analysisAdd
BLAST
Topological domaini2310 – 233223CytoplasmicSequence analysisAdd
BLAST
Transmembranei2333 – 235321HelicalSequence analysisAdd
BLAST
Topological domaini2354 – 237926ExtracellularSequence analysisAdd
BLAST
Transmembranei2380 – 240021HelicalSequence analysisAdd
BLAST
Topological domaini2401 – 24055CytoplasmicSequence analysis
Transmembranei2406 – 242621HelicalSequence analysisAdd
BLAST
Topological domaini2427 – 248357ExtracellularSequence analysisAdd
BLAST
Transmembranei2484 – 250421HelicalSequence analysisAdd
BLAST
Topological domaini2505 – 2615111CytoplasmicSequence analysisAdd
BLAST

GO - Cellular componenti

  • calcium channel complex Source: UniProtKB
  • ciliary membrane Source: UniProtKB-SubCell
  • cilium Source: BHF-UCL
  • nonmotile primary cilium Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Cell projection, Cilium, Membrane

Pathology & Biotechi

Disruption phenotypei

Situs inversus in approximately one third of the homozygous mutant mice. No other notable phenotype (such as espiratory tract lesions, hydrocephalus, and male infertility) is observed.1 Publication

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi411 – 4111D → G in rks; mice exhibit gross left-right abnormalities. Embryos do not show defects in kidney development. The nodes appear normal. 1 Publication

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 26152615Polycystic kidney disease protein 1-like 1PRO_0000164359Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi224 – 2241N-linked (GlcNAc...)Sequence analysis
Glycosylationi297 – 2971N-linked (GlcNAc...)Sequence analysis
Glycosylationi306 – 3061N-linked (GlcNAc...)Sequence analysis
Glycosylationi390 – 3901N-linked (GlcNAc...)Sequence analysis
Glycosylationi440 – 4401N-linked (GlcNAc...)Sequence analysis
Glycosylationi534 – 5341N-linked (GlcNAc...)Sequence analysis
Glycosylationi619 – 6191N-linked (GlcNAc...)Sequence analysis
Glycosylationi1458 – 14581N-linked (GlcNAc...)Sequence analysis
Glycosylationi1510 – 15101N-linked (GlcNAc...)Sequence analysis

Keywords - PTMi

Glycoprotein

Proteomic databases

PaxDbiQ8R526.
PRIDEiQ8R526.

Expressioni

Tissue specificityi

In testis, strong expression in Leydig cells, low level in seminal ducts, myoid cells and tunica vaginalis. Other tissues, including adrenal gland and heart myocardium, also show low expression. In embryo, highly expressed in the node.1 Publication

Gene expression databases

CleanExiMM_PKD1L1.

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

STRINGi10090.ENSMUSP00000120803.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini291 – 37383PKD 1PROSITE-ProRule annotationAdd
BLAST
Domaini375 – 45682PKD 2PROSITE-ProRule annotationAdd
BLAST
Domaini457 – 1349893REJPROSITE-ProRule annotationAdd
BLAST
Domaini1465 – 151147GPSAdd
BLAST
Domaini1573 – 1690118PLATPROSITE-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

eggNOGiENOG410IQ5F. Eukaryota.
ENOG410ZBZ7. LUCA.
InParanoidiQ8R526.
OrthoDBiEOG7WHH8K.

Family and domain databases

Gene3Di2.60.40.670. 1 hit.
2.60.60.20. 1 hit.
InterProiIPR022409. PKD/Chitinase_dom.
IPR002859. PKD/REJ-like.
IPR013122. PKD1_2_channel.
IPR000601. PKD_dom.
IPR001024. PLAT/LH2_dom.
IPR014010. REJ_dom.
[Graphical view]
PfamiPF00801. PKD. 1 hit.
PF08016. PKD_channel. 1 hit.
PF01477. PLAT. 1 hit.
PF02010. REJ. 1 hit.
[Graphical view]
SMARTiSM00308. LH2. 1 hit.
SM00089. PKD. 2 hits.
[Graphical view]
SUPFAMiSSF49299. SSF49299. 2 hits.
SSF49723. SSF49723. 1 hit.
PROSITEiPS50093. PKD. 1 hit.
PS50095. PLAT. 1 hit.
PS51111. REJ. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q8R526-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MDVDEDQHAV AVLHHKIQAN PELCVSDEQD SCPSDAPKGT ARDPESQKPS
60 70 80 90 100
SPAPWDKNVL NTGSEERLSF INGEPQAPPN WDEGTNSFSN PPPGISHTCN
110 120 130 140 150
LSASWYHPES SSPLTQHPPR ATLVTQPENV EHFAICCFPE TDAQALPALG
160 170 180 190 200
IRVHVASGTA LCLLLDFGDN CGAQMRLCTL AGATTVTGYH QYRKEGVYEL
210 220 230 240 250
KAVVHDFHRA EELGPYYVDI SHGNVSVFMN SSSIHDSEAL SFADSLPQQR
260 270 280 290 300
GTVVVHCFSS ISSYNVSFIS QTQVASGQAW CGVTVGYKMQ SVSVYTNGTV
310 320 330 340 350
FAANTNITFV AITEETIPLE FAWYFGENPP VMTTSRSIRR RLSVPQWYRV
360 370 380 390 400
KVKATSRIGS VVSEPHLIRV QKRIMANRLV STASALVNAN VSFECRLNFG
410 420 430 440 450
TDVAYLWNFG DDTIELGSSS SSHVYSREGE FTVEVLAFNN VSSTTLRKQL
460 470 480 490 500
FIVREPCQPP PVKNMGPAKV QIWRSQPLRL GVTFEAAILC NISQGLSYTW
510 520 530 540 550
SFVSAEMTTV TLPTAVNTRR QTIMLPSYTL ECGNYTAIAK VQIKGSMVYS
560 570 580 590 600
NYCVGVEVRA RAPVSVISEG THIFISTATS TFIILRGAQS YDPDNPGAAL
610 620 630 640 650
RYHWTCTAAS SPRWPCFDNS TSYQVDTQAP AISFPAKWLS ECCDQFLVTL
660 670 680 690 700
TVSSRGQNSS QALMFLSTRP DLAFRFVHIS WVNFRDISVN WNEEVSLRAV
710 720 730 740 750
CEDCGDVPDL TYSWDLFLVN ATEKSAVEVP FCSTVGLLGA LALGTSLKSS
760 770 780 790 800
KSDLPSNLRA PLTPHSPEPS PTPLGWTALS NLGSISAEST AGGHHVPASG
810 820 830 840 850
AVAGSGEPME EYSSLSSLAE EALMTNSSEG SWPSPSSSTD FDDFEAYYSD
860 870 880 890 900
IQEAVLSLGR QPGTSTNFQE AGPSLSAEES ASYGDNLLGP FLHTGRAKPT
910 920 930 940 950
LMIDWPKALV SQAAFHGYTT SGIMGPAVTI KPFSLSSGKT YVLQASVASK
960 970 980 990 1000
HVLLGKAQLY LTVNQAPQDM SCQVRPHHGM EAYTIFSVFC MSGKPDFHYE
1010 1020 1030 1040 1050
FRYRIGNTSS HTLYRGQDTQ HYFLLPAGDS SDNYKVIVST EITDGHGSKV
1060 1070 1080 1090 1100
QPCTVAVTVL PRYHGNDCCD KELYNSTLES LSTLRLAGSY METRNYITMI
1110 1120 1130 1140 1150
TGILSRLYVE SRNTSSCGQW SQIQDVLISS ACKVPYTDQE GMMDSIHILR
1160 1170 1180 1190 1200
DLISFPNKLS LTSAMCIFKY TKMFLAQGQF SRRLLVDKKL RVEFVLLISG
1210 1220 1230 1240 1250
VWEAAKEDAR DGDYLQEEGM KIISDMLLAC LSDEHQIHVS TGQMEFQTLL
1260 1270 1280 1290 1300
HRSPQSSIQN LGFVQVHFPS DLASLHSTTQ EATQSSCYIS QLMFFMKSPY
1310 1320 1330 1340 1350
LGGQVPGQVG GVMIPRLYSC ESRRPILRGQ LETPVTMEFG EEDYLHKRNP
1360 1370 1380 1390 1400
AMFVLLRDEV NVHRFTGLSE NSQESLQIHI KFSKPVTRPF PIILLVRFSE
1410 1420 1430 1440 1450
KATPSDFLVK RVYFWDEQTV QMYVPAAPWK GANVGYLSLL DADYDRKPPN
1460 1470 1480 1490 1500
KYLAGAVNYT VHFQWIQCVF WDKTEWRSEG PYPQPGSSPE KVNCSYHHLA
1510 1520 1530 1540 1550
PVSVLRRKLN ATLEVSSISE FQSHPHNLLP GIFSAFLLVL YGILVSKSRY
1560 1570 1580 1590 1600
VDCHEKKNPG FIFLEEDTLP GYQLYAVVID TGFRSPVRFT SKVFIVLCGE
1610 1620 1630 1640 1650
NGCSETKELC CPEKPLFGRN SRHTFILSIP NQLGPLQKIR LWHDSSGSSP
1660 1670 1680 1690 1700
CWFISHVMVK ELCSGQAWFF SAQCWLAVSK LGGHVLREFF CLSHGLGFWK
1710 1720 1730 1740 1750
LFYSKFTEYL EDFHIWLSLY SQPPSRSYLH TQRLAVSFCL LCVYSCLTAL
1760 1770 1780 1790 1800
VTVRDHQQRP LDVGPTAITL EPFCMALLCT LLACPVAQLL SLLFRCSKEA
1810 1820 1830 1840 1850
RGDMQASTQW PLRGVKTETP QGHDSSGRPD SRQPSPHPTS DLLPWNDQAW
1860 1870 1880 1890 1900
RIAASSSAVV CSPFPMEACS HKHHDLREKS HYSPPSSQAP GSGFEELGSQ
1910 1920 1930 1940 1950
KSRVCLLWSS SVAWAISGSA SLACGLGTGF LGYWFVPAQC MWWLYLLLLS
1960 1970 1980 1990 2000
LVCCAFITQP LMICLAALVF AWKRKHDSKF FTESLQDATK GLDLELEEHS
2010 2020 2030 2040 2050
RTRVPLSPIS YSPDTAEEAE RVLATRQRER HLRWAQTPSK AKLRVTGERL
2060 2070 2080 2090 2100
RRESIMQAAL RDMTTHSIML LLLLFIAYGR FCPGEISLNH AIRKAFTRKA
2110 2120 2130 2140 2150
NHSLGDLSST EDWWDWTLST LLDELYPERT SARAWGAQPG ALGGQCHLIG
2160 2170 2180 2190 2200
PPVVKLLKIS AGTACTPPRP FSELVEDVLP MHSNDLDLEN QNVSPGGPET
2210 2220 2230 2240 2250
CGVKKESYMH SLGKTRHEAH AALTALRASK WIDHSTRAMS VHFTLYNPPT
2260 2270 2280 2290 2300
QLFTSVILGT ECLPSGGLVP SFLVESFRIF YSDSALKYLL MLSELLFLVL
2310 2320 2330 2340 2350
NVIHLCFQLW GMTTKGILSY WRKPRHWLEL SMVGVAIAYY AASGHLTTLA
2360 2370 2380 2390 2400
VNITDQFHKG LYQRLVDIGL MVSWHQRARC LQGILLFLWM LKYVHLLSSL
2410 2420 2430 2440 2450
STMTPFSAVT CFPLFRVLLV GALLLAAHYH SRWFLLFTGT LSHGTSAEAF
2460 2470 2480 2490 2500
PGLLLQFPGR SKKDSWHNCL KSDHGVMRCY YGTLFLLLAT LGFRMLRATF
2510 2520 2530 2540 2550
LTVFQNRKSS HRKPLVTLKD IAVYTWHKVL TLLGLETTLE ETEVATDHIY
2560 2570 2580 2590 2600
YLDEFSSLLD ELLMKIDGLS DSLELSILEN QWKRALESRA GDSPPVGSSE
2610
YQATGVSGPL AAESE
Length:2,615
Mass (Da):290,844
Last modified:February 19, 2014 - v2
Checksum:iEBA1538C9D3AB74C
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti1680 – 16812KL → RQ in BAB85808 (PubMed:11863367).Curated
Sequence conflicti1699 – 17002WK → LQ in BAB85808 (PubMed:11863367).Curated
Sequence conflicti1789 – 17891L → F in BAB85808 (PubMed:11863367).Curated
Sequence conflicti1833 – 18331Q → H in BAB85808 (PubMed:11863367).Curated
Sequence conflicti1846 – 18461N → T in BAB85808 (PubMed:11863367).Curated

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL645571 Genomic DNA. No translation available.
AB061684 mRNA. Translation: BAB85808.1.
UniGeneiMm.146711.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL645571 Genomic DNA. No translation available.
AB061684 mRNA. Translation: BAB85808.1.
UniGeneiMm.146711.

3D structure databases

ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi10090.ENSMUSP00000120803.

Proteomic databases

PaxDbiQ8R526.
PRIDEiQ8R526.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Organism-specific databases

MGIiMGI:2156538. Pkd1l1.

Phylogenomic databases

eggNOGiENOG410IQ5F. Eukaryota.
ENOG410ZBZ7. LUCA.
InParanoidiQ8R526.
OrthoDBiEOG7WHH8K.

Miscellaneous databases

NextBioi35557866.
PROiQ8R526.
SOURCEiSearch...

Gene expression databases

CleanExiMM_PKD1L1.

Family and domain databases

Gene3Di2.60.40.670. 1 hit.
2.60.60.20. 1 hit.
InterProiIPR022409. PKD/Chitinase_dom.
IPR002859. PKD/REJ-like.
IPR013122. PKD1_2_channel.
IPR000601. PKD_dom.
IPR001024. PLAT/LH2_dom.
IPR014010. REJ_dom.
[Graphical view]
PfamiPF00801. PKD. 1 hit.
PF08016. PKD_channel. 1 hit.
PF01477. PLAT. 1 hit.
PF02010. REJ. 1 hit.
[Graphical view]
SMARTiSM00308. LH2. 1 hit.
SM00089. PKD. 2 hits.
[Graphical view]
SUPFAMiSSF49299. SSF49299. 2 hits.
SSF49723. SSF49723. 1 hit.
PROSITEiPS50093. PKD. 1 hit.
PS50095. PLAT. 1 hit.
PS51111. REJ. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    Strain: C57BL/6J.
  2. "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] OF 1504-2034.
    Tissue: Testis.
  3. "Situs inversus in Dpcd/Poll-/-, Nme7-/-, and Pkd1l1-/- mice."
    Vogel P., Read R., Hansen G.M., Freay L.C., Zambrowicz B.P., Sands A.T.
    Vet. Pathol. 47:120-131(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: DISRUPTION PHENOTYPE.
  4. Cited for: FUNCTION, SUBCELLULAR LOCATION, INTERACTION WITH PKD2, MUTAGENESIS OF ASP-411, TISSUE SPECIFICITY.
  5. "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.

Entry informationi

Entry nameiPK1L1_MOUSE
AccessioniPrimary (citable) accession number: Q8R526
Secondary accession number(s): F6VYK1, J3QMZ2
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 10, 2002
Last sequence update: February 19, 2014
Last modified: May 11, 2016
This is version 90 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. MGD cross-references
    Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
  2. 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.