CPLN1_MOUSE
ID CPLN1_MOUSE Reviewed; 3214 AA.
AC Q8CE72; E9QL36; Q3UXY6; Q6PEE0;
DT 22-JUL-2008, integrated into UniProtKB/Swiss-Prot.
DT 05-SEP-2012, sequence version 4.
DT 03-AUG-2022, entry version 116.
DE RecName: Full=Ciliogenesis and planar polarity effector 1 {ECO:0000305};
DE AltName: Full=Protein C5orf42 homolog;
DE AltName: Full=Protein JBTS17 {ECO:0000303|PubMed:25877302, ECO:0000303|PubMed:27158779};
GN Name=Cplane1 {ECO:0000312|MGI:MGI:1920942};
GN Synonyms=Jbts17 {ECO:0000303|PubMed:25877302};
OS Mus musculus (Mouse).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae;
OC Murinae; Mus; Mus.
OX NCBI_TaxID=10090;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RC STRAIN=C57BL/6J;
RX PubMed=19468303; DOI=10.1371/journal.pbio.1000112;
RA Church D.M., Goodstadt L., Hillier L.W., Zody M.C., Goldstein S., She X.,
RA Bult C.J., Agarwala R., Cherry J.L., DiCuccio M., Hlavina W., Kapustin Y.,
RA Meric P., Maglott D., Birtle Z., Marques A.C., Graves T., Zhou S.,
RA Teague B., Potamousis K., Churas C., Place M., Herschleb J., Runnheim R.,
RA Forrest D., Amos-Landgraf J., Schwartz D.C., Cheng Z., Lindblad-Toh K.,
RA Eichler E.E., Ponting C.P.;
RT "Lineage-specific biology revealed by a finished genome assembly of the
RT mouse.";
RL PLoS Biol. 7:E1000112-E1000112(2009).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-1087.
RC STRAIN=C57BL/6J; TISSUE=Olfactory bulb, and Skin;
RX PubMed=16141072; DOI=10.1126/science.1112014;
RA Carninci P., Kasukawa T., Katayama S., Gough J., Frith M.C., Maeda N.,
RA Oyama R., Ravasi T., Lenhard B., Wells C., Kodzius R., Shimokawa K.,
RA Bajic V.B., Brenner S.E., Batalov S., Forrest A.R., Zavolan M., Davis M.J.,
RA Wilming L.G., Aidinis V., Allen J.E., Ambesi-Impiombato A., Apweiler R.,
RA Aturaliya R.N., Bailey T.L., Bansal M., Baxter L., Beisel K.W., Bersano T.,
RA Bono H., Chalk A.M., Chiu K.P., Choudhary V., Christoffels A.,
RA Clutterbuck D.R., Crowe M.L., Dalla E., Dalrymple B.P., de Bono B.,
RA Della Gatta G., di Bernardo D., Down T., Engstrom P., Fagiolini M.,
RA Faulkner G., Fletcher C.F., Fukushima T., Furuno M., Futaki S.,
RA Gariboldi M., Georgii-Hemming P., Gingeras T.R., Gojobori T., Green R.E.,
RA Gustincich S., Harbers M., Hayashi Y., Hensch T.K., Hirokawa N., Hill D.,
RA Huminiecki L., Iacono M., Ikeo K., Iwama A., Ishikawa T., Jakt M.,
RA Kanapin A., Katoh M., Kawasawa Y., Kelso J., Kitamura H., Kitano H.,
RA Kollias G., Krishnan S.P., Kruger A., Kummerfeld S.K., Kurochkin I.V.,
RA Lareau L.F., Lazarevic D., Lipovich L., Liu J., Liuni S., McWilliam S.,
RA Madan Babu M., Madera M., Marchionni L., Matsuda H., Matsuzawa S., Miki H.,
RA Mignone F., Miyake S., Morris K., Mottagui-Tabar S., Mulder N., Nakano N.,
RA Nakauchi H., Ng P., Nilsson R., Nishiguchi S., Nishikawa S., Nori F.,
RA Ohara O., Okazaki Y., Orlando V., Pang K.C., Pavan W.J., Pavesi G.,
RA Pesole G., Petrovsky N., Piazza S., Reed J., Reid J.F., Ring B.Z.,
RA Ringwald M., Rost B., Ruan Y., Salzberg S.L., Sandelin A., Schneider C.,
RA Schoenbach C., Sekiguchi K., Semple C.A., Seno S., Sessa L., Sheng Y.,
RA Shibata Y., Shimada H., Shimada K., Silva D., Sinclair B., Sperling S.,
RA Stupka E., Sugiura K., Sultana R., Takenaka Y., Taki K., Tammoja K.,
RA Tan S.L., Tang S., Taylor M.S., Tegner J., Teichmann S.A., Ueda H.R.,
RA van Nimwegen E., Verardo R., Wei C.L., Yagi K., Yamanishi H.,
RA Zabarovsky E., Zhu S., Zimmer A., Hide W., Bult C., Grimmond S.M.,
RA Teasdale R.D., Liu E.T., Brusic V., Quackenbush J., Wahlestedt C.,
RA Mattick J.S., Hume D.A., Kai C., Sasaki D., Tomaru Y., Fukuda S.,
RA Kanamori-Katayama M., Suzuki M., Aoki J., Arakawa T., Iida J., Imamura K.,
RA Itoh M., Kato T., Kawaji H., Kawagashira N., Kawashima T., Kojima M.,
RA Kondo S., Konno H., Nakano K., Ninomiya N., Nishio T., Okada M., Plessy C.,
RA Shibata K., Shiraki T., Suzuki S., Tagami M., Waki K., Watahiki A.,
RA Okamura-Oho Y., Suzuki H., Kawai J., Hayashizaki Y.;
RT "The transcriptional landscape of the mammalian genome.";
RL Science 309:1559-1563(2005).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1813-3214.
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [4]
RP FUNCTION, SUBCELLULAR LOCATION, AND VARIANT HUG PRO-253.
RX PubMed=25877302; DOI=10.1093/hmg/ddv137;
RA Damerla R.R., Cui C., Gabriel G.C., Liu X., Craige B., Gibbs B.C.,
RA Francis R., Li Y., Chatterjee B., San Agustin J.T., Eguether T.,
RA Subramanian R., Witman G.B., Michaud J.L., Pazour G.J., Lo C.W.;
RT "Novel Jbts17 mutant mouse model of Joubert syndrome with cilia transition
RT zone defects and cerebellar and other ciliopathy related anomalies.";
RL Hum. Mol. Genet. 24:3994-4005(2015).
RN [5]
RP FUNCTION, AND INTERACTION WITH FUZ; INTU AND WDPCP.
RX PubMed=27158779; DOI=10.1038/ng.3558;
RA Toriyama M., Lee C., Taylor S.P., Duran I., Cohn D.H., Bruel A.L.,
RA Tabler J.M., Drew K., Kelly M.R., Kim S., Park T.J., Braun D.A.,
RA Pierquin G., Biver A., Wagner K., Malfroot A., Panigrahi I., Franco B.,
RA Al-Lami H.A., Yeung Y., Choi Y.J., Duffourd Y., Faivre L., Riviere J.B.,
RA Chen J., Liu K.J., Marcotte E.M., Hildebrandt F., Thauvin-Robinet C.,
RA Krakow D., Jackson P.K., Wallingford J.B.;
RT "The ciliopathy-associated CPLANE proteins direct basal body recruitment of
RT intraflagellar transport machinery.";
RL Nat. Genet. 48:648-656(2016).
CC -!- FUNCTION: Involved in ciliogenesis. Involved in the establishment of
CC cell polarity required for directional cell migration
CC (PubMed:25877302). Proposed to act in association with the CPLANE
CC (ciliogenesis and planar polarity effectors) complex. Involved in
CC recruitment of peripheral IFT-A proteins to basal bodies
CC (PubMed:27158779). {ECO:0000269|PubMed:25877302,
CC ECO:0000305|PubMed:27158779}.
CC -!- SUBUNIT: Interacts with FUZ; INTU and WDPCP; the interactors are
CC proposed to form the core CPLANE (ciliogenesis and planar polarity
CC effectors) complex (PubMed:27158779).
CC -!- SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane
CC protein {ECO:0000305}. Cell projection, cilium
CC {ECO:0000269|PubMed:25877302}. Note=Localizes to the ciliary transition
CC zone. {ECO:0000269|PubMed:25877302}.
CC -!- DISEASE: Note=Defects in Jbts17 are the cause of the Hug (Heart under
CC glass) phenotype which is a model of Joubert syndrome. Hug mice die
CC prenatally and show skelatal dysplasia, craniofacial defects,
CC polydactyly, cystic kidney, cerebellar hypoplasia and congenital heart
CC defects of varying degrees. Most severely affected mutants die at mid-
CC gestation with a transparent chest wall due to complete failure to form
CC the rib cage. The phenotype is consistent with the spectrum of MKS-BBS-
CC Joubert syndrome phenotypes. {ECO:0000269|PubMed:25877302}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAH58107.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
CC Sequence=BAE22427.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Intron sequences at both 5' and 3' ends.; Evidence={ECO:0000305};
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DR EMBL; AC107747; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC158971; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AK028897; BAC26182.2; -; mRNA.
DR EMBL; AK135113; BAE22427.1; ALT_SEQ; mRNA.
DR EMBL; BC058107; AAH58107.1; ALT_INIT; mRNA.
DR CCDS; CCDS49578.1; -.
DR RefSeq; NP_001156378.1; NM_001162906.1.
DR BioGRID; 216193; 3.
DR IntAct; Q8CE72; 1.
DR STRING; 10090.ENSMUSP00000106247; -.
DR iPTMnet; Q8CE72; -.
DR PhosphoSitePlus; Q8CE72; -.
DR EPD; Q8CE72; -.
DR MaxQB; Q8CE72; -.
DR PaxDb; Q8CE72; -.
DR PRIDE; Q8CE72; -.
DR ProteomicsDB; 281570; -.
DR Antibodypedia; 51274; 47 antibodies from 8 providers.
DR Ensembl; ENSMUST00000110617; ENSMUSP00000106247; ENSMUSG00000039801.
DR GeneID; 73692; -.
DR KEGG; mmu:73692; -.
DR UCSC; uc007ven.2; mouse.
DR CTD; 65250; -.
DR MGI; MGI:1920942; Cplane1.
DR VEuPathDB; HostDB:ENSMUSG00000039801; -.
DR eggNOG; ENOG502QRD2; Eukaryota.
DR GeneTree; ENSGT00800000124150; -.
DR HOGENOM; CLU_226347_0_0_1; -.
DR InParanoid; Q8CE72; -.
DR OMA; QKRGPIP; -.
DR OrthoDB; 55296at2759; -.
DR PhylomeDB; Q8CE72; -.
DR TreeFam; TF351288; -.
DR BioGRID-ORCS; 73692; 4 hits in 73 CRISPR screens.
DR ChiTaRS; Cplane1; mouse.
DR PRO; PR:Q8CE72; -.
DR Proteomes; UP000000589; Chromosome 15.
DR RNAct; Q8CE72; protein.
DR Bgee; ENSMUSG00000039801; Expressed in humerus cartilage element and 217 other tissues.
DR ExpressionAtlas; Q8CE72; baseline and differential.
DR Genevisible; Q8CE72; MM.
DR GO; GO:0035869; C:ciliary transition zone; IDA:MGI.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0003279; P:cardiac septum development; IMP:MGI.
DR GO; GO:0021549; P:cerebellum development; IMP:MGI.
DR GO; GO:0060271; P:cilium assembly; IMP:MGI.
DR GO; GO:0060976; P:coronary vasculature development; IMP:MGI.
DR GO; GO:0042733; P:embryonic digit morphogenesis; IMP:MGI.
DR GO; GO:0001736; P:establishment of planar polarity; IMP:MGI.
DR GO; GO:0007507; P:heart development; IMP:MGI.
DR GO; GO:0001822; P:kidney development; IMP:MGI.
DR GO; GO:1904491; P:protein localization to ciliary transition zone; IMP:MGI.
DR GO; GO:0060021; P:roof of mouth development; IMP:MGI.
DR GO; GO:0003281; P:ventricular septum development; IMP:MGI.
DR InterPro; IPR028236; CPLANE1.
DR PANTHER; PTHR14492; PTHR14492; 1.
DR Pfam; PF15392; Joubert; 1.
PE 1: Evidence at protein level;
KW Cell projection; Cilium biogenesis/degradation; Membrane;
KW Reference proteome; Transmembrane; Transmembrane helix.
FT CHAIN 1..3214
FT /note="Ciliogenesis and planar polarity effector 1"
FT /id="PRO_0000344366"
FT TRANSMEM 593..613
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 632..652
FT /note="Helical"
FT /evidence="ECO:0000255"
FT REGION 1496..1523
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1644..1667
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1879..1991
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 2047..2142
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 2214..2241
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 2398..2440
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 2491..2529
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 2622..2650
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 2824..2855
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 3037..3127
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 3158..3181
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1879..1903
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1922..1944
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1967..1991
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 2047..2074
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 2084..2100
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 2406..2430
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 3085..3106
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VARIANT 253
FT /note="S -> P (in Hug)"
FT /evidence="ECO:0000269|PubMed:25877302"
FT CONFLICT 1061
FT /note="E -> K (in Ref. 2; BAC26182)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 3214 AA; 358550 MW; B431ABFE11324D32 CRC64;
MEMRLEVLTS TSIKQKKPWP RVSWLGQENE AVFLLDEKFI NEINLLSGRT KKKIPSLQPL
LKDVVFLATS TNDVWLSGVL TTGELFLWNK DQDCLKKIHV TEKPKEAIKA AVASSSRLYL
YVAENGKRIL LITSSGCILL WEYLELKNIL SSKSLSLVGQ WSQIVPEEAV SLPSTKDKEA
VVAAVFVKNE LLGDCCLCSF TFYSGECLKL TFLDIQWYEN IFTSVRSLLF RVHWAQQECP
LCSLIPRCAS VKSRGALISA FSRDGLALAV TLNQKDPTAT QVLFINTLNF VTLCGGLKGC
SNKNPVVPAT LTRSYWVGDI SWTHDSLFLT CVLKRGSLVL LTCLGELLTL VTFGCSIEFG
PAEFIPLHPL ITYRPQQLPF QDSNNCVDSS ASESDPLRQR FSIKAHSRLP YLIISDGYMV
TTLRFLDNQS PTMLMRSLLL DSTQRLEKAY QSMMLSEPKD KGLNFRSLDS LRSSLLKHQG
KESSVHCTVP RFLQAEETMK LNETTDFQDF EGEETNEVEQ FVNNSFSFCN QKKDLPFDIV
KEGRLEFASM FDTVHAKDAS KETDRNTAEL HRIQKTLLAA WTIGISKNVT EKKLMLNYTI
LCITHFFYIL QFIKCPVPKF DLFLNKSLKR NAWVLCVFQL FHQCLSVHYW DMRYRQNMGH
LIRLTANTVK LLLTQRQEHG SFSERLLACL SLLRTVTVHL NGTCSLQPEA VPAAADESRP
AELDSLMVPI FQASKENWPW DSSLKIYPQV TNLVQKPGHR LIALWRLLYK KTLWYQAQLS
QRTPDGDRRL TENIRHEVSV VKTLLCHVQT NLQMAGDSLN QALELTPISG EECFLLASYE
KSVCLWKKAL QETQEKGGRR TCFLQLRYYL SLLYCHLYCY NLNDAQGLCD HLVRELLSRS
QLPVRESQDC SDCEIAVTGN VHPEAALRVV QCMARFMAAY FTNEPLFILP PHSVSVLPPL
HVKTEHSLRL IPLQHSKVAS VIRDQNLSNV WTVEYTLELL FIGGLIPEAV WMAHKLGDWK
TSVSIGVAYQ VFCKHDCNFA RSKKKGMDLP LNMIPAQIFQ EKLQCFLGQP VSLTKKNEKG
SKYKQFTDPI EEEDASLLFG SVQEVLKASV MADADIVSET LQLLMDSAKD FSKKLWGLVP
VDLYLPAPPL YCPQPAVLSE EHGDNLLLKA EKDNRQKLSG ILQRVLLLFR ASRCSFPVAQ
WYILQLRWAR KVMQKIRVKG SLPSLGSFPE SLLNYCKGGI AFFRPGATGD HTLDEVSIKA
LGCFRELCAL CWMLHVRDKL SYTCRQYQKA RENTKIEKDL EVGFDSCVVE HCFHALEWAC
RMLPFSRFFN MEELIQDIIL SLIGELPPIR KVAEIFVKAF PNPEAIRVPL REKYHSLQQK
LKHGVVKGPQ TEELMSTVMR HVRKVRVKAL KRVQRNIGAF EMDIWEPDEE DKPAATPAAD
RFSLGPSVSS TLTLDLGSSL LHSDADTFSE TLSLEEKTWI HLYQRHTPSH MELALVGKKP
SDKKKVSNQK ENSQRKEDDE TPGKEALPVI GVWEFERDDD EYISFLELFL SYILERDLCS
SDPGIPFLTS FSGRLREHEL NSLLFDVHTT LKRRQSKTIS ENVYRAGSCF AVTPESQEPE
NLSSLNSVGA RHFESQALSA SALGNQSGST LENPLQSGST SENPLQSDVM NWERRAGLFG
LKQKPMYRVP DDKREKPTVQ RSSNHSFWVP ESIKPGRHRF RALEGSAGPP REDLPLALQS
MFGDAGRLVE WMIRWSDRRL LCDPGVTPSS CKYSPVIRVK TSTAAILTSL WLLEQPYSAA
YTAKNGIIKV LERHHTEPQV AAERESDVDA DCPAAVAAQE GTECWNRMPA EAENHDVKDT
GDEIAPVTPG SERELVHADG RHSEAGSSTQ DEMDVHISDS EEGPVESLRG PSAVICRPES
QLSSEHSEEE AQCSRKEPRD ASVDTNLTEQ KGAQISDLKE KSPTVLPLMS NGAQDTSQTP
QKTQGNEHRA QLPDASESVR QMLQDEMFKL VQLQQINFLS LMQIVGPSVA SLPDMHGLLQ
QAQSVRFGES QVSNSTKSDC IEVNSRQRVS ARAQSMGECT REPGKNSPAD HKRISRPDQD
SSGDTQDIPH GSVPLCQLDG QPEVRGQTGA PRSFAPASFP PAPAADSGLQ LLFTPAAIQK
TPQLIPPARA GAPGRGFPLL HFQPKRDFKP LSLPVGRIPQ VSFRPQAQPK EAWSLSDSCQ
PPVSQRTVHT TLPSPSDSSH CNAEAMRKAE AVLTGIPKHV NMGQYAGQGY LTPQQDSSVF
IKPENVFDVK PSPPETALQN SFGLPLLHLQ FKPPYVFSAP PRAFSRFPSV PGTEGRNQPQ
LSLLHPCLPP ENTYKKPQLI PLENLLAFKR SQQKLAHSVS GQGDAAPHFV GVSMDAAGIT
QGKQRQSRRA KRELQEGRAQ KPRRKPNVSF RPEDSLISND SEVIIEPKEQ LGHHDSQHLD
KFDIPFEMLE DDINTSAGLH FMASVRKKAV GSHDASTNTD PDKEGPSQKA DSESSKNPQA
TAASSGHEPL KVPQLLIPDI YLNVRLPSGI AEKPLSPSPP HMAGHKYIDV VDIEADDLLG
LPACEEPSDE VTKQQSHPPH APSSAELHCM AASIVDAAPP HTFQSQESAS STRGLISEPA
KVTQSCQSGE SWRKSVIEAK EPEIPSVAPP SDRQQDRDIL EQNFQFKEQS TKLDSVGQSL
LWTLLQNASP ACPTPSPAVC PRPSSPACPP PSPAVCPPPS PAACPTPSPA AQKFEHLTAK
LQEMDEQLVA VQTMAENIEQ DFPASQVLNL HWEKAGLGNH VGLSSGPDIE KLLASKAISI
SEEVSLQTQE DVEEQKDAEE TSETEFSEAE NHSSQKTYAC PSVGSAACSS VGWNIPSPGL
NDSNELLESG SEDQLQVTGL TDIADIIGDL ITKSGVSSHE LGLTECQARS ISRIQRPPDR
GPRRTAEERR EIKAWMRRKQ KERMSEYLGQ LAERRGRERN PFCPTSSPFY MTSRQIRQRQ
KMKREKDRLQ LSKHYSQRLS QAYSLMNELL SDSAHITAPA ENPLPPGPYR RQRGSSPKRE
NAHGQSLPVN RPGGDRHISR SSHLCKGQPR GSSQLRGSQP PCQSQKPLRS RGAAGVGPPV
QQACREDERE EMVVSPWTLP SEIHRILHGR PESLLQDMSP ADEEEPEPPL LAGGMDSVSE
STGSILSKLD WKAVEDMVAS VEDKNLSVHW ALDQ
