CleftGeneDB-Search

Gene: Cplane1

Basic information

Tag	Content
Uniprot ID	Q8CE72; E9QL36; Q3UXY6; Q6PEE0;
Entrez ID	73692
Genbank protein ID	BAE22427.1; BAC26182.2; AAH58107.1;
Genbank nucleotide ID	NM_001162906.1
Ensembl protein ID	ENSMUSP00000106247
Ensembl nucleotide ID	ENSMUSG00000039801
Gene name	Ciliogenesis and planar polarity effector 1
Gene symbol	Cplane1
Organism	Mus musculus
NCBI taxa ID	10090
Cleft type	CLP
Developmental stage
Data sources	Manually collected
Reference	25877302
Functional description	Involved in ciliogenesis. Involved in the establishment of cell polarity required for directional cell migration (PubMed:25877302). Proposed to act in association with the CPLANE (ciliogenesis and planar polarity effectors) complex. Involved in recruitment of peripheral IFT-A proteins to basal bodies (PubMed:27158779).
Sequence	MEMRLEVLTS TSIKQKKPWP RVSWLGQENE AVFLLDEKFI NEINLLSGRT KKKIPSLQPL 60 LKDVVFLATS TNDVWLSGVL TTGELFLWNK DQDCLKKIHV TEKPKEAIKA AVASSSRLYL 120 YVAENGKRIL LITSSGCILL WEYLELKNIL SSKSLSLVGQ WSQIVPEEAV SLPSTKDKEA 180 VVAAVFVKNE LLGDCCLCSF TFYSGECLKL TFLDIQWYEN IFTSVRSLLF RVHWAQQECP 240 LCSLIPRCAS VKSRGALISA FSRDGLALAV TLNQKDPTAT QVLFINTLNF VTLCGGLKGC 300 SNKNPVVPAT LTRSYWVGDI SWTHDSLFLT CVLKRGSLVL LTCLGELLTL VTFGCSIEFG 360 PAEFIPLHPL ITYRPQQLPF QDSNNCVDSS ASESDPLRQR FSIKAHSRLP YLIISDGYMV 420 TTLRFLDNQS PTMLMRSLLL DSTQRLEKAY QSMMLSEPKD KGLNFRSLDS LRSSLLKHQG 480 KESSVHCTVP RFLQAEETMK LNETTDFQDF EGEETNEVEQ FVNNSFSFCN QKKDLPFDIV 540 KEGRLEFASM FDTVHAKDAS KETDRNTAEL HRIQKTLLAA WTIGISKNVT EKKLMLNYTI 600 LCITHFFYIL QFIKCPVPKF DLFLNKSLKR NAWVLCVFQL FHQCLSVHYW DMRYRQNMGH 660 LIRLTANTVK LLLTQRQEHG SFSERLLACL SLLRTVTVHL NGTCSLQPEA VPAAADESRP 720 AELDSLMVPI FQASKENWPW DSSLKIYPQV TNLVQKPGHR LIALWRLLYK KTLWYQAQLS 780 QRTPDGDRRL TENIRHEVSV VKTLLCHVQT NLQMAGDSLN QALELTPISG EECFLLASYE 840 KSVCLWKKAL QETQEKGGRR TCFLQLRYYL SLLYCHLYCY NLNDAQGLCD HLVRELLSRS 900 QLPVRESQDC SDCEIAVTGN VHPEAALRVV QCMARFMAAY FTNEPLFILP PHSVSVLPPL 960 HVKTEHSLRL IPLQHSKVAS VIRDQNLSNV WTVEYTLELL FIGGLIPEAV WMAHKLGDWK 1020 TSVSIGVAYQ VFCKHDCNFA RSKKKGMDLP LNMIPAQIFQ EKLQCFLGQP VSLTKKNEKG 1080 SKYKQFTDPI EEEDASLLFG SVQEVLKASV MADADIVSET LQLLMDSAKD FSKKLWGLVP 1140 VDLYLPAPPL YCPQPAVLSE EHGDNLLLKA EKDNRQKLSG ILQRVLLLFR ASRCSFPVAQ 1200 WYILQLRWAR KVMQKIRVKG SLPSLGSFPE SLLNYCKGGI AFFRPGATGD HTLDEVSIKA 1260 LGCFRELCAL CWMLHVRDKL SYTCRQYQKA RENTKIEKDL EVGFDSCVVE HCFHALEWAC 1320 RMLPFSRFFN MEELIQDIIL SLIGELPPIR KVAEIFVKAF PNPEAIRVPL REKYHSLQQK 1380 LKHGVVKGPQ TEELMSTVMR HVRKVRVKAL KRVQRNIGAF EMDIWEPDEE DKPAATPAAD 1440 RFSLGPSVSS TLTLDLGSSL LHSDADTFSE TLSLEEKTWI HLYQRHTPSH MELALVGKKP 1500 SDKKKVSNQK ENSQRKEDDE TPGKEALPVI GVWEFERDDD EYISFLELFL SYILERDLCS 1560 SDPGIPFLTS FSGRLREHEL NSLLFDVHTT LKRRQSKTIS ENVYRAGSCF AVTPESQEPE 1620 NLSSLNSVGA RHFESQALSA SALGNQSGST LENPLQSGST SENPLQSDVM NWERRAGLFG 1680 LKQKPMYRVP DDKREKPTVQ RSSNHSFWVP ESIKPGRHRF RALEGSAGPP REDLPLALQS 1740 MFGDAGRLVE WMIRWSDRRL LCDPGVTPSS CKYSPVIRVK TSTAAILTSL WLLEQPYSAA 1800 YTAKNGIIKV LERHHTEPQV AAERESDVDA DCPAAVAAQE GTECWNRMPA EAENHDVKDT 1860 GDEIAPVTPG SERELVHADG RHSEAGSSTQ DEMDVHISDS EEGPVESLRG PSAVICRPES 1920 QLSSEHSEEE AQCSRKEPRD ASVDTNLTEQ KGAQISDLKE KSPTVLPLMS NGAQDTSQTP 1980 QKTQGNEHRA QLPDASESVR QMLQDEMFKL VQLQQINFLS LMQIVGPSVA SLPDMHGLLQ 2040 QAQSVRFGES QVSNSTKSDC IEVNSRQRVS ARAQSMGECT REPGKNSPAD HKRISRPDQD 2100 SSGDTQDIPH GSVPLCQLDG QPEVRGQTGA PRSFAPASFP PAPAADSGLQ LLFTPAAIQK 2160 TPQLIPPARA GAPGRGFPLL HFQPKRDFKP LSLPVGRIPQ VSFRPQAQPK EAWSLSDSCQ 2220 PPVSQRTVHT TLPSPSDSSH CNAEAMRKAE AVLTGIPKHV NMGQYAGQGY LTPQQDSSVF 2280 IKPENVFDVK PSPPETALQN SFGLPLLHLQ FKPPYVFSAP PRAFSRFPSV PGTEGRNQPQ 2340 LSLLHPCLPP ENTYKKPQLI PLENLLAFKR SQQKLAHSVS GQGDAAPHFV GVSMDAAGIT 2400 QGKQRQSRRA KRELQEGRAQ KPRRKPNVSF RPEDSLISND SEVIIEPKEQ LGHHDSQHLD 2460 KFDIPFEMLE DDINTSAGLH FMASVRKKAV GSHDASTNTD PDKEGPSQKA DSESSKNPQA 2520 TAASSGHEPL KVPQLLIPDI YLNVRLPSGI AEKPLSPSPP HMAGHKYIDV VDIEADDLLG 2580 LPACEEPSDE VTKQQSHPPH APSSAELHCM AASIVDAAPP HTFQSQESAS STRGLISEPA 2640 KVTQSCQSGE SWRKSVIEAK EPEIPSVAPP SDRQQDRDIL EQNFQFKEQS TKLDSVGQSL 2700 LWTLLQNASP ACPTPSPAVC PRPSSPACPP PSPAVCPPPS PAACPTPSPA AQKFEHLTAK 2760 LQEMDEQLVA VQTMAENIEQ DFPASQVLNL HWEKAGLGNH VGLSSGPDIE KLLASKAISI 2820 SEEVSLQTQE DVEEQKDAEE TSETEFSEAE NHSSQKTYAC PSVGSAACSS VGWNIPSPGL 2880 NDSNELLESG SEDQLQVTGL TDIADIIGDL ITKSGVSSHE LGLTECQARS ISRIQRPPDR 2940 GPRRTAEERR EIKAWMRRKQ KERMSEYLGQ LAERRGRERN PFCPTSSPFY MTSRQIRQRQ 3000 KMKREKDRLQ LSKHYSQRLS QAYSLMNELL SDSAHITAPA ENPLPPGPYR RQRGSSPKRE 3060 NAHGQSLPVN RPGGDRHISR SSHLCKGQPR GSSQLRGSQP PCQSQKPLRS RGAAGVGPPV 3120 QQACREDERE EMVVSPWTLP SEIHRILHGR PESLLQDMSP ADEEEPEPPL LAGGMDSVSE 3180 STGSILSKLD WKAVEDMVAS VEDKNLSVHW ALDQ 3214

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Species	Evidence	Details
1:1 ortholog	CPLANE1		A0A452FMK9		Capra hircus	Prediction	More>>
1:1 ortholog	CPLANE1	65250	Q9H799		Homo sapiens	Prediction	More>>
1:1 ortholog	Cplane1	73692	Q8CE72	CLP	Mus musculus	Publication	More>>
1:1 ortholog	CPLANE1	461916	H2QQS4		Pan troglodytes	Prediction	More>>
1:1 ortholog	Cplane1		D3ZK35		Rattus norvegicus	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs32686582	p.Pro59Ala	missense variant	-	NC_000081.6:g.8174819C>G	UniProt
rs32686580	p.Ala110Val	missense variant	-	NC_000081.6:g.8175068C>T	UniProt
rs32684976	p.Asp214Ala	missense variant	-	NC_000081.6:g.8178407A>C	UniProt
rs240325078	p.Ser243Asn	missense variant	-	NC_000081.6:g.8179808G>A	UniProt
rs263728174	p.Arg247Lys	missense variant	-	NC_000081.6:g.8179820G>A	UniProt
	p.Ser253Pro	Missense	-	-	UniProt
rs235759823	p.Arg263Lys	missense variant	-	NC_000081.6:g.8179868G>A	UniProt
rs32682731	p.Thr330Ala	missense variant	-	NC_000081.6:g.8182165A>G	UniProt
rs1134237998	p.Gly360Trp	missense variant	-	NC_000081.6:g.8182255G>T	UniProt
rs32681293	p.Cys386Ser	missense variant	-	NC_000081.6:g.8186118G>C	UniProt
rs239387285	p.Asp388Gly	missense variant	-	NC_000081.6:g.8186124A>G	UniProt
rs237687975	p.Ile413Val	missense variant	-	NC_000081.6:g.8186198A>G	UniProt
rs255027934	p.Thr432Ala	missense variant	-	NC_000081.6:g.8186255A>G	UniProt
rs32681292	p.Glu457Lys	missense variant	-	NC_000081.6:g.8186330G>A	UniProt
rs260051630	p.Pro536Gln	missense variant	-	NC_000081.6:g.8186906C>A	UniProt
rs32681290	p.Phe537Leu	missense variant	-	NC_000081.6:g.8186908T>C	UniProt
rs32681288	p.Leu726Phe	missense variant	-	NC_000081.6:g.8187477A>C	UniProt
rs32679734	p.Ala1040Val	missense variant	-	NC_000081.6:g.8201359C>T	UniProt
rs260822637	p.Val1141Ile	missense variant	-	NC_000081.6:g.8203419G>A	UniProt
rs32682599	p.Arg1193Gln	missense variant	-	NC_000081.6:g.8203770G>A	UniProt
rs32680971	p.Thr1248Ala	missense variant	-	NC_000081.6:g.8210058A>G	UniProt
rs220547098	p.Met1395Ile	missense variant	-	NC_000081.6:g.8216330G>A	UniProt
rs246236099	p.Thr1397Ala	missense variant	-	NC_000081.6:g.8216334A>G	UniProt
rs32678159	p.Asp1428Gly	missense variant	-	NC_000081.6:g.8216428A>G	UniProt
rs586892181	p.Pro1446Arg	missense variant	-	NC_000081.6:g.8216482C>G	UniProt
rs229776906	p.Ala1465Thr	missense variant	-	NC_000081.6:g.8216538G>A	UniProt
rs252802013	p.Val1506Ile	missense variant	-	NC_000081.6:g.8218484G>A	UniProt
rs212700105	p.Asn1508Thr	missense variant	-	NC_000081.6:g.8218491A>C	UniProt
rs229735977	p.Glu1511Ala	missense variant	-	NC_000081.6:g.8218500A>C	UniProt
rs864304470	p.Gln1514Arg	missense variant	-	NC_000081.6:g.8218509A>G	UniProt
rs221707017	p.Asp1518Glu	missense variant	-	NC_000081.6:g.8218522T>G	UniProt
rs245902738	p.Pro1522Ala	missense variant	-	NC_000081.6:g.8218532C>G	UniProt
rs262896972	p.Glu1525Ala	missense variant	-	NC_000081.6:g.8218542A>C	UniProt
rs32676501	p.Ser1544Asn	missense variant	-	NC_000081.6:g.8218599G>A	UniProt
rs32676500	p.Ile1553Val	missense variant	-	NC_000081.6:g.8218625A>G	UniProt
rs230312075	p.Arg1574His	missense variant	-	NC_000081.6:g.8218689G>A	UniProt
rs32676498	p.Ser1627Thr	missense variant	-	NC_000081.6:g.8218848G>C	UniProt
rs246990129	p.Phe1633Leu	missense variant	-	NC_000081.6:g.8218867C>A	UniProt
rs213167088	p.Arg1675Lys	missense variant	-	NC_000081.6:g.8218992G>A	UniProt
rs240609223	p.Gly1806Asp	missense variant	-	NC_000081.6:g.8219385G>A	UniProt
rs256455706	p.Arg1813His	missense variant	-	NC_000081.6:g.8220868G>A	UniProt
rs32684008	p.Asp1862Ala	missense variant	-	NC_000081.6:g.8221830A>C	UniProt
rs220906006	p.Ala1865Thr	missense variant	-	NC_000081.6:g.8221838G>A	UniProt
rs225335387	p.Gly1886Glu	missense variant	-	NC_000081.6:g.8221902G>A	UniProt
rs32683343	p.Arg1917Met	missense variant	-	NC_000081.6:g.8222382G>T	UniProt
rs32683342	p.Ser1924Leu	missense variant	-	NC_000081.6:g.8222403C>T	UniProt
rs246464434	p.His1988Tyr	missense variant	-	NC_000081.6:g.8227019C>T	UniProt
rs240720311	p.Glu2123Lys	missense variant	-	NC_000081.6:g.8228638G>A	UniProt
rs261153235	p.Thr2128Ala	missense variant	-	NC_000081.6:g.8228653A>G	UniProt
rs864268388	p.Phe2134Val	missense variant	-	NC_000081.6:g.8228671T>G	UniProt
rs46717514	p.Pro2167Ser	missense variant	-	NC_000081.6:g.8228770C>T	UniProt
rs264646061	p.Ser2238Trp	missense variant	-	NC_000081.6:g.8228984C>G	UniProt
rs32679318	p.Ser2239Arg	missense variant	-	NC_000081.6:g.8228986A>C	UniProt
rs243509456	p.Ala2243Ser	missense variant	-	NC_000081.6:g.8228998G>T	UniProt
rs226607172	p.Gly2255Ser	missense variant	-	NC_000081.6:g.8229034G>A	UniProt
rs219561911	p.Ala2266Thr	missense variant	-	NC_000081.6:g.8229067G>A	UniProt
rs250218723	p.Val2286Met	missense variant	-	NC_000081.6:g.8229127G>A	UniProt
rs212715673	p.Ser2292Arg	missense variant	-	NC_000081.6:g.8229147C>G	UniProt
rs251266341	p.Asn2300His	missense variant	-	NC_000081.6:g.8229169A>C	UniProt
rs32679314	p.Gln2338Leu	missense variant	-	NC_000081.6:g.8229284A>T	UniProt
rs227766676	p.Ala2376Val	missense variant	-	NC_000081.6:g.8230282C>T	UniProt
rs578628692	p.Gly2381Glu	missense variant	-	NC_000081.6:g.8230297G>A	UniProt
rs32686694	p.Ala2385Ser	missense variant	-	NC_000081.6:g.8230308G>T	UniProt
rs582042735	p.His2388Gln	missense variant	-	NC_000081.6:g.8230319C>G	UniProt
rs585387677	p.Val2390Leu	missense variant	-	NC_000081.6:g.8230323G>C	UniProt
rs579291015	p.Gly2391Glu	missense variant	-	NC_000081.6:g.8230327G>A	UniProt
rs580230906	p.Ser2393Asn	missense variant	-	NC_000081.6:g.8230333G>A	UniProt
rs32685963	p.Met2394Val	missense variant	-	NC_000081.6:g.8230335A>G	UniProt
rs585918182	p.Gly2398Glu	missense variant	-	NC_000081.6:g.8230348G>A	UniProt
rs579772503	p.Ile2399Thr	missense variant	-	NC_000081.6:g.8230351T>C	UniProt
rs586623416	p.Gln2401Arg	missense variant	-	NC_000081.6:g.8230357A>G	UniProt
rs32685956	p.Gln2415Arg	missense variant	-	NC_000081.6:g.8231141A>G	UniProt
rs864281079	p.Arg2423Gly	missense variant	-	NC_000081.6:g.8231164A>G	UniProt
rs32685955	p.Ile2444Val	missense variant	-	NC_000081.6:g.8231227A>G	UniProt
rs1134262638	p.Asp2511Tyr	missense variant	-	NC_000081.6:g.8242296G>T	UniProt
rs1134825956	p.Ser2515Cys	missense variant	-	NC_000081.6:g.8242308A>T	UniProt
rs1133186274	p.Lys2516Gln	missense variant	-	NC_000081.6:g.8242311A>C	UniProt
rs232710380	p.Pro2529Ala	missense variant	-	NC_000081.6:g.8243811C>G	UniProt
rs32682914	p.Leu2546Phe	missense variant	-	NC_000081.6:g.8243862C>T	UniProt
rs218801740	p.Ser2556Phe	missense variant	-	NC_000081.6:g.8243893C>T	UniProt
rs32682229	p.Pro2582Leu	missense variant	-	NC_000081.6:g.8244279C>T	UniProt
rs247394339	p.Ala2601Val	missense variant	-	NC_000081.6:g.8244336C>T	UniProt
rs32682228	p.Ile2614Val	missense variant	-	NC_000081.6:g.8244374A>G	UniProt
rs46342145	p.Ile2614Val	missense variant	-	NC_000081.6:g.8244374A>G	UniProt
rs242869205	p.Asp2616Asn	missense variant	-	NC_000081.6:g.8244380G>A	UniProt
rs32682227	p.Ala2618Val	missense variant	-	NC_000081.6:g.8244387C>T	UniProt
rs262929250	p.Glu2650Gly	missense variant	-	NC_000081.6:g.8244678A>G	UniProt
rs266207240	p.Pro2715Leu	missense variant	-	NC_000081.6:g.8247017C>T	UniProt
rs52556048	p.Pro2723Leu	missense variant	-	NC_000081.6:g.8247041C>T	UniProt
rs245645673	p.Ala2727Thr	missense variant	-	NC_000081.6:g.8247052G>A	UniProt
rs223955249	p.Ala2750Thr	missense variant	-	NC_000081.6:g.8247121G>A	UniProt
rs261506055	p.Val2769Leu	missense variant	-	NC_000081.6:g.8247178G>C	UniProt
rs256056459	p.Ser2785Pro	missense variant	-	NC_000081.6:g.8247226T>C	UniProt
rs230964926	p.Glu2793Asp	missense variant	-	NC_000081.6:g.8247252A>C	UniProt
rs262471372	p.Ser2805Pro	missense variant	-	NC_000081.6:g.8251007T>C	UniProt
rs213877016	p.Gly2806Ser	missense variant	-	NC_000081.6:g.8251010G>A	UniProt
rs241251425	p.Ser2819Asn	missense variant	-	NC_000081.6:g.8251050G>A	UniProt
rs261963098	p.Glu2834Asp	missense variant	-	NC_000081.6:g.8252180G>T	UniProt
rs214877194	p.Leu2880Val	missense variant	-	NC_000081.6:g.8258316T>G	UniProt
rs227390279	p.Ser2965Leu	missense variant	-	NC_000081.6:g.8260615C>T	UniProt
rs255131939	p.Ser2965Ala	missense variant	-	NC_000081.6:g.8260614T>G	UniProt
rs47996885	p.Arg3004His	missense variant	-	NC_000081.6:g.8262373G>A	UniProt
rs266164682	p.Asn3027Thr	missense variant	-	NC_000081.6:g.8262984A>C	UniProt
rs233241002	p.Asn3042Lys	missense variant	-	NC_000081.6:g.8263030T>G	UniProt
rs46986496	p.Pro3046His	missense variant	-	NC_000081.6:g.8263041C>A	UniProt
rs245089234	p.Ile3078Asn	missense variant	-	NC_000081.6:g.8264385T>A	UniProt
rs220150212	p.Leu3084Val	missense variant	-	NC_000081.6:g.8264402C>G	UniProt
rs237760385	p.Ser3093Ala	missense variant	-	NC_000081.6:g.8264429T>G	UniProt
rs246703930	p.Arg3111Cys	missense variant	-	NC_000081.6:g.8269660C>T	UniProt
rs250641182	p.Val3134Leu	missense variant	-	NC_000081.6:g.8269729G>C	UniProt
rs257170341	p.Ser3135Gly	missense variant	-	NC_000081.6:g.8269732A>G	UniProt
rs224271719	p.Gly3149Asp	missense variant	-	NC_000081.6:g.8269775G>A	UniProt
rs213796780	p.Glu3152Gly	missense variant	-	NC_000081.6:g.8269784A>G	UniProt
rs237592946	p.Met3175Val	missense variant	-	NC_000081.6:g.8270733A>G	UniProt
rs264080560	p.Val3178Met	missense variant	-	NC_000081.6:g.8270742G>A	UniProt

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0003674	molecular_function	ND

GO:Biological Process

GO ID	GO Term	Evidence
GO:0001736	establishment of planar polarity	IMP
GO:0001822	kidney development	IMP
GO:0003279	cardiac septum development	IMP
GO:0003281	ventricular septum development	IMP
GO:0007507	heart development	IMP
GO:0021549	cerebellum development	IMP
GO:0042733	embryonic digit morphogenesis	IMP
GO:0060021	roof of mouth development	IMP
GO:0060271	cilium assembly	ISO
GO:0060271	cilium assembly	IBA
GO:0060271	cilium assembly	IMP
GO:0060976	coronary vasculature development	IMP
GO:1904491	protein localization to ciliary transition zone	IMP

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0016021	integral component of membrane	IEA
GO:0035869	ciliary transition zone	IBA
GO:0035869	ciliary transition zone	IDA

Reactome Pathway

Reactome ID	Reactome Term	Evidence

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0966	Cell projection
KW-0970	Cilium biogenesis/degradation
KW-0472	Membrane
KW-0621	Polymorphism
KW-1185	Reference proteome
KW-0812	Transmembrane
KW-1133	Transmembrane helix

Interpro

InterPro ID	InterPro Term
IPR028236	CPLANE1

PROSITE

PROSITE ID	PROSITE Term

Pfam

Pfam ID	Pfam Term
PF15392	Joubert