CPLANE1

Protein identityUniProt · HPA

UniProt accession

Q9H799

Gene

CPLANE1

Ensembl

ENSG00000197603

Chromosome

5

Canonical length

3197 aa

Protein class

Disease related genes, Human disease related genes, Predicted intracellular proteins, Predicted membrane proteins

Subcellular location

Cytosol,Mid piece,Principal piece

OverviewNCBI Gene

The protein encoded by this gene has putative coiled-coil domains and may be a transmembrane protein. Defects in this gene are a cause of Joubert syndrome (JBTS). [provided by RefSeq, May 2012]

Canonical amino-acid sequenceUniProt

3197 residues, UniProt reviewed canonical sequence.

>Q9H799|CPLANE1
     1  MEIRLEILTS TGIKQKKPWP RVSWLGKEKE AVFLLDDKFI NEINLLSGKI KKKIPSLQPF
    61  LKDVIVLTTS SNDAWLAGVL TTGELFLWNK DQDCLKTIPI TEKPKEMIKA TVASSLRLYL
   121  YVSGNGKRIV LITPSGCIFL WEYLELKNIL SSKSLSLAGR WSQVIPEEAV LLPSTEDKEA
   181  VVNAVFIKNE LFGDCCLCSF TFYSGECLKL TFLAIRWHEN VFTSVRSLPY HVHWAQQDCH
   241  LCSLIPKCES VKSRGALISA FSRDGLTLAV TLNQKDPKAT QVLFINTLNF VTLCGSLKGC
   301  SNKSPVVPAT LIRSYWVGDI SWTHDSLFLA CMLKRGSLVL LTCQGELLTL ITFGCSIEFG
   361  PAEFIPLHPL ITYRPQQFTF QDSNNSVDSS ASDSDPMRQR FSIKAHSRLP YLVISDGYMV
   421  TTLRFLDSLS PSVHMRSLLL DSTQRLEKIY QSVILSKPKG KGLNLRSLNS LRSSLLEHQG
   481  NESSADFTVP KFLQAEETIN ENAADFQDFE AEETNEGRHF PDNLCPFWNK RDDVLCSSMK
   541  EGRLEFASMF DTIHAKDDSE ETDRTITELH SIQKSLLAAW TIGISKTVTE KNLMLNYIVV
   601  CITHFFYILQ FIKCPFPKLD LVLSKSSRHN AWILCIFQLF HQCLSIHYWD IRYKQDVGHL
   661  IKLTSNTVKL LLTQQQKGQL FSEKLLACFY LLKMVADNLN GVYILQPEVI SASADGSKIT
   721  AQDSLVVPIF QMFQDSGFQK NWSWNSFFKI HPQVVNPVQQ PGHRLLILWR ILYKKTLWYQ
   781  AQLNRRVPEA DSQLTEKMTH EASTVKSLLC HLQANLQSTG DCLNQTLELK SINGEECFLL
   841  GSYEKSVQLW KKALQEIEEK GGRRTYFLQI RYYLSLLYCH LYSYNLNDAQ GLCDQLAREI
   901  LRWSQLPVKE NKDFSGAAKS HFECGMVGGV HPEAAVRVVQ SMARFMAAYF TNQQLCILPP
   961  HHVNVLPPLH IKTEQSFRLI PLQHSKVASV VRDQNLSNVW TVEYALELLF IGGLVPEAVW
  1021  LAYKLGDWKT SVSIGVAFQL FCKRDSNFMR SKKKSLNLPL RMTPAQIFQE KLQCVLGQPA
  1081  SLEAKNEMGS KYKQFTDPIE EEDANLLFGS VQEVLKASVM ADADILSETF QLLIDSAKDF
  1141  SKRLWGLVPF GLYLPAPPLY CPQPAILSEE DGDDLLLKAE KNNRQKVSGI LQRVLLLFRA
  1201  AQCSFPVAQW YILQLRWARK VMQKIRMKGS LPSLSPFPQS LLNYCKGGIA FFRPGAAGDH
  1261  KLDEVSIRAI GCFRELCALC WMLHVRDKLS YSCRQYQKAR ENVKGEKDLE VEFDSCMIEH
  1321  CLSAVEWAYR MLPFSRFFNM EELIQDIILS LIGELPPIRK VAEIFVKAFP YPEDVRVPLR
  1381  DKYHSLHQRL RHCVVKGPQT EEMMSVVMHS IQKVRVKALK RVQRNIGSFE VNIWEPIEEE
  1441  KPDEAPGVDR YSLGTSLSRS TLTELGDSVV HSDADTFSEA LSVEEKSRIN IYQRNAPNHM
  1501  ELTSIHKPTD KRKMCNQKEN PTKKEDHEKL SQNTLPVIGV WEFERDDDEY IKFLDLFLSY
  1561  ILERDLPYSR DADIPFLTSF SGKLREHELN SLLFDVHTTL KRHQSKTKSQ NVFRAGSCFV
  1621  VAPESYESEK SSSLNDEYGM HLENQKLSSS VLVNQGIKPF LQYPSNEVNK NEGMSGLFGL
  1681  KQRSIYKIQD DTREKCLIQR SSNHIFWTPK SIKTRRCIFK AIQCNDINPQ EDLPLALNTF
  1741  GSIGRLLEWM IRWSNRRLLC DSGITESSSE YSPVIRVKTS TAAILTSLWL LEQPYFATYK
  1801  AKNAIIKMVE NRDTGCQIGP NIERESKSDA GGSVAVATPG GTEERNGQNK SCQNILNRMP
  1861  TEAKNPDIKE INDDIISITH NTKKEFIDID ENLLEVEAFT EEEMDMHISD YEEDIEESVG
  1921  GFRSPSLAIC MMTLPQQLEE EFTEEVQCQR EEPLETIMEE KSTEQKGMIE AFSHPGHTTP
  1981  QSMQVDTSSE ISSAQISTYK EKSSSVPLLI SNGVNVASQP PAPTPQKTQR NEFTAQLPDC
  2041  SESVRQMLQD EMFKLVQLQQ INFMSLMQIV GSSFANLPDT QQLVQQSQSV HLGESQESNL
  2101  RGCGDVEDSN KNLKERFFIK PQSMGENARE PRKNSPHCHE GTIPSGQNST GNVQNVPHGS
  2161  IPLCQLNGQP RKKGPIPSSQ NLPSTSFYPA PAGNTHLYLL STPSVVQKAP RLIPHAKTFS
  2221  PGDGFPLLQF KSKQEFQPLF LHTGSIPQVP FRPLPQPREA WGLSDSFQPA LPQRAAQTTP
  2281  ASHLNVSQYN TEARKKEVEQ KTWAETVITE IPNHVNLDQY VGQENLTPQQ DSSVFIKPEK
  2341  LFDVKPGTLE ISPHHSFGLP LLYLPLKPPN MFPSTSRASI TVPSTPIQPI AEERKYPRLS
  2401  LLHSHLSPEN RCKKTQLIPL ENLIAFKQSQ QKLTHNLFEQ GDAGHLQLLK VKIEPPEVRQ
  2461  GKDSKKRQRR RAEKELQEKR CEKLRRKPNV TFRPENSIIN NDDSEIIKKP KEQQEHCGSH
  2521  PLDDFDVPFE MLQDDNTSAG LHFMASVKKK AIGSQDASTN TDPEHEPLTA PQLLVPDVYL
  2581  NLKLSSEMSE KPWSPSIPHT VTNLELPVRE EPSNDNVIKQ QSDHLAVPSS AELHYMAASV
  2641  TNAVPPHNFK SQGLPKPEFR FKGQSTKSDS AEDYLLWKRL QGVSAACPAP SSAAHQLEHL
  2701  SAKLQKIDEQ LLAIQNIAEN IEQDFPKPEM LDLHCDKIGP VDHIEFSSGP EFKKTLASKT
  2761  ISISEEVRFL THMDEEDQSD KKETSEPEFS ITENYSGQKT CVFPTADSAV SLSSSSDQNT
  2821  TSPGMNSSDE LCESVSVHPL QMTGLTDIAD IIDDLIIKDG VSSEELGLTE QAMGTSRIQH
  2881  YSGRHSQRTD KERREIQAWM KRKRKERMAK YLNELAEKRG QEHDPFCPRS NPLYMTSREI
  2941  RLRQKMKHEK DRLLLSEHYS RRISQAYGLM NELLSESVQL PTLPQKPLPN KPSPTQSSSC
  3001  QHCPSPRGEN QHGHSFLINR PGKVKYMSKP SYIHKRKSFG QPQGSPWPHG TATFTIQKKA
  3061  GGAKAAVRKA TQSPVTFQKG SNAPCHSLQH TKKHGSAGLA PQTKQVCVEY EREETVVSPW
  3121  TIPSEIHKIL HESHNSLLQD LSPTEEEEPE HPFGVGGVDS VSESTGSILS KLDWNAIEDM
  3181  VASVEDQGLS VHWALDL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against CPLANE1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

2

Mean surface accessibility (rSASA)

0

Highest tissue expression

6.4 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about CPLANE1.

Disease | AllUniProt

Conditions CPLANE1 is implicated in, by any mechanism.

• Joubert syndrome 17 (JBTS17) MIM:614615
• Orofaciodigital syndrome 6 (OFD6) MIM:277170

Disease | GeneticClinVar

345 pathogenic / likely-pathogenic of 2,634 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Joubert syndrome 17
• Orofaciodigital syndrome type 6
• Joubert syndrome and related disorders
• CPLANE1-related disorder
• Inborn genetic diseases

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.67

gnomAD pLI

0

DepMap mean gene effect

0.04

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 9% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• cilium assembly

Cellular components

• ciliary transition zone
• membrane

Protein domainsUniProt · Pfam · InterPro

• WD40-repeat-containing domain superfamily
• Ciliogenesis and planar polarity effector 1
• Joubert syndrome-associated

KeywordsUniProt

• Cell projection
• Ciliopathy
• Cilium biogenesis/degradation
• Coiled coil
• Joubert syndrome
• Membrane
• Phosphoprotein
• Transmembrane
• Transmembrane helix

InteractionsUniProt · HPA

Protein binding partners of CPLANE1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• FUZ
• INTU
• WDPCP