PK1L1_ORYLA
ID PK1L1_ORYLA Reviewed; 2742 AA.
AC E7FKV8;
DT 19-FEB-2014, integrated into UniProtKB/Swiss-Prot.
DT 19-FEB-2014, sequence version 2.
DT 02-JUN-2021, entry version 37.
DE RecName: Full=Polycystic kidney disease 1 like 1;
DE AltName: Full=Protein abecobe;
GN Name=pkd1l1; Synonyms=abc;
OS Oryzias latipes (Japanese rice fish) (Japanese killifish).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Actinopterygii; Neopterygii; Teleostei; Neoteleostei; Acanthomorphata;
OC Ovalentaria; Atherinomorphae; Beloniformes; Adrianichthyidae; Oryziinae;
OC Oryzias.
OX NCBI_TaxID=8090;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA], FUNCTION, SUBCELLULAR LOCATION, DISRUPTION
RP PHENOTYPE, TISSUE SPECIFICITY, AND INTERACTION WITH PDK2.
RX PubMed=21307098; DOI=10.1242/dev.058271;
RA Kamura K., Kobayashi D., Uehara Y., Koshida S., Iijima N., Kudo A.,
RA Yokoyama T., Takeda H.;
RT "Pkd1l1 complexes with Pkd2 on motile cilia and functions to establish the
RT left-right axis.";
RL Development 138:1121-1129(2011).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RC STRAIN=Hd-rR;
RX PubMed=17554307; DOI=10.1038/nature05846;
RA Kasahara M., Naruse K., Sasaki S., Nakatani Y., Qu W., Ahsan B., Yamada T.,
RA Nagayasu Y., Doi K., Kasai Y., Jindo T., Kobayashi D., Shimada A.,
RA Toyoda A., Kuroki Y., Fujiyama A., Sasaki T., Shimizu A., Asakawa S.,
RA Shimizu N., Hashimoto S., Yang J., Lee Y., Matsushima K., Sugano S.,
RA Sakaizumi M., Narita T., Ohishi K., Haga S., Ohta F., Nomoto H., Nogata K.,
RA Morishita T., Endo T., Shin-I T., Takeda H., Morishita S., Kohara Y.;
RT "The medaka draft genome and insights into vertebrate genome evolution.";
RL Nature 447:714-719(2007).
CC -!- FUNCTION: Component of a ciliary calcium channel that controls calcium
CC concentration within cilia without affecting cytoplasmic calcium
CC concentration. Forms a heterodimer with pkd2l1 in cilia and forms a
CC calcium-permeant ciliary channel that regulates sonic hedgehog/SHH
CC signaling and gli2 transcription. Does not constitute the pore-forming
CC subunit (By similarity). Also involved in left/right axis specification
CC downstream of nodal flow: forms a complex with pkd2 in cilia to
CC facilitate flow detection in left/right patterning. {ECO:0000250,
CC ECO:0000269|PubMed:21307098}.
CC -!- SUBUNIT: Heterodimer; heterodimerizes with PKD2 proteins to form a
CC calcium channel. Interacts with pkd2l1; to form ciliary calcium channel
CC (By similarity). Interacts with pkd2. {ECO:0000250,
CC ECO:0000269|PubMed:21307098}.
CC -!- SUBCELLULAR LOCATION: Cell projection, cilium membrane
CC {ECO:0000269|PubMed:21307098}; Multi-pass membrane protein
CC {ECO:0000269|PubMed:21307098}.
CC -!- TISSUE SPECIFICITY: Expressed in Kupffer's vesicle, an organ equivalent
CC to the node. {ECO:0000269|PubMed:21307098}.
CC -!- DISRUPTION PHENOTYPE: Defects in left-right axis patterning, while
CC nodal flow is normal. {ECO:0000269|PubMed:21307098}.
CC -!- SIMILARITY: Belongs to the polycystin family. {ECO:0000305}.
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DR EMBL; AB573426; BAJ65629.1; -; mRNA.
DR EMBL; BAAF04039115; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BAAF04039116; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BAAF04039117; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR PRIDE; E7FKV8; -.
DR Proteomes; UP000001038; Unplaced.
DR Proteomes; UP000265180; Chromosome 9.
DR Proteomes; UP000265200; Chromosome 9.
DR GO; GO:0034704; C:calcium channel complex; ISS:UniProtKB.
DR GO; GO:0060170; C:ciliary membrane; IEA:UniProtKB-SubCell.
DR GO; GO:0005929; C:cilium; IDA:UniProtKB.
DR GO; GO:0097730; C:non-motile cilium; ISS:UniProtKB.
DR GO; GO:0005262; F:calcium channel activity; ISS:UniProtKB.
DR GO; GO:0050982; P:detection of mechanical stimulus; IMP:UniProtKB.
DR GO; GO:0003127; P:detection of nodal flow; IMP:UniProtKB.
DR GO; GO:0070986; P:left/right axis specification; IMP:UniProtKB.
DR Gene3D; 2.60.40.10; -; 2.
DR InterPro; IPR000203; GPS.
DR InterPro; IPR013783; Ig-like_fold.
DR InterPro; IPR022409; PKD/Chitinase_dom.
DR InterPro; IPR002859; PKD/REJ-like.
DR InterPro; IPR013122; PKD1_2_channel.
DR InterPro; IPR000601; PKD_dom.
DR InterPro; IPR035986; PKD_dom_sf.
DR InterPro; IPR001024; PLAT/LH2_dom.
DR InterPro; IPR036392; PLAT/LH2_dom_sf.
DR InterPro; IPR014010; REJ_dom.
DR Pfam; PF01825; GPS; 1.
DR Pfam; PF00801; PKD; 2.
DR Pfam; PF08016; PKD_channel; 1.
DR Pfam; PF01477; PLAT; 1.
DR Pfam; PF02010; REJ; 1.
DR SMART; SM00308; LH2; 1.
DR SMART; SM00089; PKD; 2.
DR SUPFAM; SSF49299; SSF49299; 2.
DR SUPFAM; SSF49723; SSF49723; 1.
DR PROSITE; PS50221; GPS; 1.
DR PROSITE; PS50093; PKD; 2.
DR PROSITE; PS50095; PLAT; 1.
DR PROSITE; PS51111; REJ; 1.
PE 1: Evidence at protein level;
KW Calcium; Calcium channel; Calcium transport; Cell membrane;
KW Cell projection; Cilium; Glycoprotein; Ion channel; Ion transport;
KW Membrane; Reference proteome; Repeat; Transmembrane; Transmembrane helix;
KW Transport.
FT CHAIN 1..2742
FT /note="Polycystic kidney disease 1 like 1"
FT /id="PRO_0000425550"
FT TOPO_DOM 1..1602
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 1603..1623
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 1624..1812
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 1813..1833
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 1834..1851
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 1852..1872
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 1873..2005
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 2006..2026
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 2027..2040
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 2041..2061
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 2062..2151
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 2152..2172
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 2173..2344
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 2345..2365
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 2366..2378
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 2379..2401
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 2402..2442
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 2443..2463
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 2464..2467
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 2468..2488
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 2489..2528
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 2529..2549
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 2550..2742
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT DOMAIN 286..372
FT /note="PKD 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00151"
FT DOMAIN 370..454
FT /note="PKD 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00151"
FT DOMAIN 452..1338
FT /note="REJ"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00511"
FT DOMAIN 1538..1586
FT /note="GPS"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00098"
FT DOMAIN 1648..1769
FT /note="PLAT"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00152"
FT REGION 767..829
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 846..908
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 846..860
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 867..881
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 882..900
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT CARBOHYD 35
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 133
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 149
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 220
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 267
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 383
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 397
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 486
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 545
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 693
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 709
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 735
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 1080
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 1101
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 1201
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 1318
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 1437
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 1490
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 1568
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 2218
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CONFLICT 847
FT /note="L -> R (in Ref. 1; BAJ65629)"
FT /evidence="ECO:0000305"
FT CONFLICT 974
FT /note="L -> F (in Ref. 1; BAJ65629)"
FT /evidence="ECO:0000305"
FT CONFLICT 1064
FT /note="K -> T (in Ref. 1; BAJ65629)"
FT /evidence="ECO:0000305"
FT CONFLICT 1245
FT /note="R -> G (in Ref. 1; BAJ65629)"
FT /evidence="ECO:0000305"
FT CONFLICT 1263
FT /note="T -> K (in Ref. 1; BAJ65629)"
FT /evidence="ECO:0000305"
FT CONFLICT 1328
FT /note="L -> S (in Ref. 1; BAJ65629)"
FT /evidence="ECO:0000305"
FT CONFLICT 1360
FT /note="S -> P (in Ref. 1; BAJ65629)"
FT /evidence="ECO:0000305"
FT CONFLICT 1467
FT /note="I -> L (in Ref. 1; BAJ65629)"
FT /evidence="ECO:0000305"
FT CONFLICT 1513
FT /note="L -> F (in Ref. 1; BAJ65629)"
FT /evidence="ECO:0000305"
FT CONFLICT 1616
FT /note="N -> Y (in Ref. 1; BAJ65629)"
FT /evidence="ECO:0000305"
FT CONFLICT 1814
FT /note="C -> Y (in Ref. 1; BAJ65629)"
FT /evidence="ECO:0000305"
FT CONFLICT 1833
FT /note="Q -> K (in Ref. 1; BAJ65629)"
FT /evidence="ECO:0000305"
FT CONFLICT 1924
FT /note="T -> Q (in Ref. 1; BAJ65629)"
FT /evidence="ECO:0000305"
FT CONFLICT 2014
FT /note="F -> L (in Ref. 1; BAJ65629)"
FT /evidence="ECO:0000305"
FT CONFLICT 2036
FT /note="H -> L (in Ref. 1; BAJ65629)"
FT /evidence="ECO:0000305"
FT CONFLICT 2182
FT /note="F -> I (in Ref. 1; BAJ65629)"
FT /evidence="ECO:0000305"
FT CONFLICT 2189
FT /note="A -> G (in Ref. 1; BAJ65629)"
FT /evidence="ECO:0000305"
FT CONFLICT 2192
FT /note="D -> E (in Ref. 1; BAJ65629)"
FT /evidence="ECO:0000305"
FT CONFLICT 2195
FT /note="M -> T (in Ref. 1; BAJ65629)"
FT /evidence="ECO:0000305"
FT CONFLICT 2257
FT /note="R -> C (in Ref. 1; BAJ65629)"
FT /evidence="ECO:0000305"
FT CONFLICT 2348
FT /note="Y -> C (in Ref. 1; BAJ65629)"
FT /evidence="ECO:0000305"
FT CONFLICT 2425
FT /note="V -> I (in Ref. 1; BAJ65629)"
FT /evidence="ECO:0000305"
FT CONFLICT 2567
FT /note="V -> I (in Ref. 1; BAJ65629)"
FT /evidence="ECO:0000305"
FT CONFLICT 2647
FT /note="L -> S (in Ref. 1; BAJ65629)"
FT /evidence="ECO:0000305"
FT CONFLICT 2665
FT /note="D -> V (in Ref. 1; BAJ65629)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 2742 AA; 308537 MW; FD9D7BD479F71201 CRC64;
MFCLWIFSLA FLHLHLCSVS SSSLEGSGFF VGWINASSLQ LFASIGGCDL SPCMDEGQEG
MEALYRSEEP FQCSIRASAS PGRRQAGRTC VRKVPGNLAV HCHLLSENEG LEEEDLLRIT
VMTPRGQSSL QVNVSHGGLL TACSDWIWNT SEKHKNNVPA SGLHLGISLE VPCCTSCTRF
GSDSELVEEQ CSALHVSVSD VLVKDYICCL TPRDKDKTLN RTETPCLYSS NSLKDSLVRG
RVYQMSFEEC FRWHLLVVLL MLEAQYNHSQ EVHEDPSSTV KLCDYAVRIH AEKQAYSTNT
DIPLLAVVDI LDPVEFLWDF GDFTSARANS RTITKRYTNP GIYKLVVVAS WGQMSVRSHV
LSLVVQRAVK LNRLVHEPSV LQNHTVTVSC RVNVGTNLTF LWNFGDGTVR TGLSTEQHVF
TRTGEFRVMV IASNLVSSAS LSSYLFVVDR PCQPPPVKNL GPPNIQVRRN EVVFLGVTFE
SELNCNVSRE LHYSWTVYDS AGLTFPLPLT NTHRQSLVLQ SYTLPYGIYK AIARVQIVGS
VVYSNYSVRL QVVPNSVVVV IQGGTNIYVN TKSSNEVTLD GQASYDPDFP LNPLRYSWTC
QPVSTISSSC FSQSIPTSYP VLKFPTSLLK SNFDQFKFTL TVHSGERSAS SEIFLTLTSH
LAGKLFVHCP ECQGDQVSWD QSFSVRAECE DCNVSAEFIQ YSWSLFRVNA SSKPVAEIPF
CYTVDLNAPS AVLENASTPT PAPEMSPSHH FNADWTRFTE DSLASSSPSR IYKSKNRNSE
LTDSPVSSVT VGFSGSESFN GPPGVDRGSS QFSNFPGQRD MFSEFQSDPE SSAEWEFTFP
YLESEDLRGQ RGDSRVPFPR PEEGDPGISA GRPKETDMES FPSDSDSFSH SSSNKGEGSN
LVDPRPSVRL QKPGLLDLHR DSVDKSLFES YTYTGISSCF LSFRSFSLKP SSTYMLELTA
KSQRRFYGQT QLFLKVKPVP KGVACQVQPV RGIELYTHFS IFCTSGREDL IYTYSFSVGG
RMPRILYQGR DFLYYFSLPS GDPTDDYKVI IYTEIRSSMY GSAKKLCPVT VRVEPSFVRN
ASSSYSHHEP DLMISDSGLR NVSVLVQLGN IAEIYNYISL LSTILNRLSL DSQANTHALK
HLRNVLICIV CKLEYSAQAS PADGIFILNE LLRVTSQVTV QSARWVTAHV GALSVQFSES
NRSILSALVS LLSSSLQVVT SSPETSDSAD SPQPLESHLV TGKSRNAFVD DADHCITDLS
ETTYNKQSEP VPKRLMMRLV NDLLQTTSDL MLRNFDLQKT KELQVQSDLI TLCAGFLNKT
STAINCGLIT FFLPASLIKM LLLHDGISAK RGFSQREQPS CVQRIGMELL HNPYEWGRYP
IQLKGPVADL SLYSCKTRRK IPVHSFLQPI TVELRHPQKT SSMSEYTLLR SQINYHNFSI
TQEHLQQAVQ VTVVFTAPPH MAFPVKILFR MFERPTPSMH HLHRLLNWRN NTILLTLPPS
YLSAAGVGHL ALLDANFGKT PTRRHLAEQI SYSLTVESSL CLSWEDQQGS WTQNGCRAQT
NDKTSAVNCS CHHLKPLKVL QQQIQSSHFR ADLDQFLSVS RDLTVVFVLL LCVSLNIPVL
VWCKKTDATS EENNRAHFLP DNSATDQHFY AVTVHTGLCS AARMSARVYV VLHGEDGCSQ
TKELHVPGCT LFRRNSQNTF ILSVADSLGS VQGVHIWHNN SGPSPEWYLK QVQVSELMPG
HMEGRSWQFI SQCWLAVNKG DGQVERMLRV STHGLTFSKM LFLKLFEYMP DYHIWMSVYT
CPSPHLFTRA QRLCVCLLLF LGYACVNIII THQRDDQLPF DLGVIDVTSV SIATGLVSVV
AVLPVAMVIS FLFRVKSGRM TLENYDNVFS KRPSGKTKYQ DTDFLSVSTT NLENKDADDK
EAVTPQRNKR RKDSVSFESI HELLFQEVLQ VSRRRSLFLK KSKGNDSELS PQSSEFCGAL
KATKNEAQSV RVKRRYRLAS LLYHCVAWTL CLLFCLSCLI LSAVLGTRLN SGKILHWIHS
LFVSLTFCFF VIHPATILVL AAVVSWRFKR SQDFHCFFNK MNSHLEDLKH QDPDQLRPSA
FTRTRAPNAE KILEARQRAR YLRRVHPPTR AELRKTRTKR KKQAVIHKML RDLCLCGSMF
FLMVCITYGS PVDEHYPLNA AFRRHFIRAH GDDFMSIKKY EDWWKWAQTS LLSSLYYNES
ENPQMSFISI GAPLVQKTEV CGTFHSQVSM VTPPRPRYHT GSSSKQEVTV GLGYTRSEGA
SKLRLLHLSG WLSEQTVALK VQFSLYSPAP NLFSSVTLLS EQSSTGLLQS SATVQSVRLY
HSPSMLDYTV MVWQLLFLLL SLVNLYHQTS TAAQHGLMGY WKTTSISVEV SLVIVSLVYY
VHYVYHPTMV MEVAEQLRRN HREHVDVSTL ANSEQFSRTL RGIILFLLAV KCVTVVRLNR
ILAPSMPLLS LSSLLWPAIS GLLLLSIFSC MGRLLYIERT FHSIQTVLWH FWSLRKSRDL
ISLWRDFYYF GLLYASSAML TTMVFAVMIR KAKRSPSTKN DPTIREVLGC ISQKFTGMKT
QIPDCHTQKT YFLEECESLV DELLFKLNAL SNSLHHTLPP KLHTYTDKDS PDASSTTELC
KERLQDLVRS LSVGQGEAAL TFPHDRSLLE LQEEEEVKHQ EGRCSVGCKE SRLPETLWTA
DYRESMDEHW TEKKSSNGLG GATYSHVVVV EALVHHEQGT KN
