Cplane1
entrez
73692
canonical
uniprot
Q8CE72
canonical
ensembl
ENSMUSG00000039801
resolver
ensp
ENSMUSP00000106247
resolver
enst
ENSMUST00000110617
resolver
genesymbol
Cplane1
resolver
genesymbol_syn
Jbts17
resolver
uniprot
E9QL36
resolver
uniprot
Q3UXY6
resolver
uniprot
Q6PEE0
resolver
uniprot_entry
CPLN1_MOUSE
resolver
uniprot_sec
E9QL36
resolver
uniprot_sec
Q3UXY6
resolver
uniprot_sec
Q6PEE0
resolver
amino_acid_sequence
MEMRLEVLTSTSIKQKKPWPRVSWLGQENEAVFLLDEKFINEINLLSGRTKKKIPSLQPLLKDVVFLATSTNDVWLSGVLTTGELFLWNKDQDCLKKIHVTEKPKEAIKAAVASSSRLYLYVAENGKRILLITSSGCILLWEYLELKNILSSKSLSLVGQWSQIVPEEAVSLPSTKDKEAVVAAVFVKNELLGDCCLCSFTFYSGECLKLTFLDIQWYENIFTSVRSLLFRVHWAQQECPLCSLIPRCASVKSRGALISAFSRDGLALAVTLNQKDPTATQVLFINTLNFVTLCGGLKGCSNKNPVVPATLTRSYWVGDISWTHDSLFLTCVLKRGSLVLLTCLGELLTLVTFGCSIEFGPAEFIPLHPLITYRPQQLPFQDSNNCVDSSASESDPLRQRFSIKAHSRLPYLIISDGYMVTTLRFLDNQSPTMLMRSLLLDSTQRLEKAYQSMMLSEPKDKGLNFRSLDSLRSSLLKHQGKESSVHCTVPRFLQAEETMKLNETTDFQDFEGEETNEVEQFVNNSFSFCNQKKDLPFDIVKEGRLEFASMFDTVHAKDASKETDRNTAELHRIQKTLLAAWTIGISKNVTEKKLMLNYTILCITHFFYILQFIKCPVPKFDLFLNKSLKRNAWVLCVFQLFHQCLSVHYWDMRYRQNMGHLIRLTANTVKLLLTQRQEHGSFSERLLACLSLLRTVTVHLNGTCSLQPEAVPAAADESRPAELDSLMVPIFQASKENWPWDSSLKIYPQVTNLVQKPGHRLIALWRLLYKKTLWYQAQLSQRTPDGDRRLTENIRHEVSVVKTLLCHVQTNLQMAGDSLNQALELTPISGEECFLLASYEKSVCLWKKALQETQEKGGRRTCFLQLRYYLSLLYCHLYCYNLNDAQGLCDHLVRELLSRSQLPVRESQDCSDCEIAVTGNVHPEAALRVVQCMARFMAAYFTNEPLFILPPHSVSVLPPLHVKTEHSLRLIPLQHSKVASVIRDQNLSNVWTVEYTLELLFIGGLIPEAVWMAHKLGDWKTSVSIGVAYQVFCKHDCNFARSKKKGMDLPLNMIPAQIFQEKLQCFLGQPVSLTKKNEKGSKYKQFTDPIEEEDASLLFGSVQEVLKASVMADADIVSETLQLLMDSAKDFSKKLWGLVPVDLYLPAPPLYCPQPAVLSEEHGDNLLLKAEKDNRQKLSGILQRVLLLFRASRCSFPVAQWYILQLRWARKVMQKIRVKGSLPSLGSFPESLLNYCKGGIAFFRPGATGDHTLDEVSIKALGCFRELCALCWMLHVRDKLSYTCRQYQKARENTKIEKDLEVGFDSCVVEHCFHALEWACRMLPFSRFFNMEELIQDIILSLIGELPPIRKVAEIFVKAFPNPEAIRVPLREKYHSLQQKLKHGVVKGPQTEELMSTVMRHVRKVRVKALKRVQRNIGAFEMDIWEPDEEDKPAATPAADRFSLGPSVSSTLTLDLGSSLLHSDADTFSETLSLEEKTWIHLYQRHTPSHMELALVGKKPSDKKKVSNQKENSQRKEDDETPGKEALPVIGVWEFERDDDEYISFLELFLSYILERDLCSSDPGIPFLTSFSGRLREHELNSLLFDVHTTLKRRQSKTISENVYRAGSCFAVTPESQEPENLSSLNSVGARHFESQALSASALGNQSGSTLENPLQSGSTSENPLQSDVMNWERRAGLFGLKQKPMYRVPDDKREKPTVQRSSNHSFWVPESIKPGRHRFRALEGSAGPPREDLPLALQSMFGDAGRLVEWMIRWSDRRLLCDPGVTPSSCKYSPVIRVKTSTAAILTSLWLLEQPYSAAYTAKNGIIKVLERHHTEPQVAAERESDVDADCPAAVAAQEGTECWNRMPAEAENHDVKDTGDEIAPVTPGSERELVHADGRHSEAGSSTQDEMDVHISDSEEGPVESLRGPSAVICRPESQLSSEHSEEEAQCSRKEPRDASVDTNLTEQKGAQISDLKEKSPTVLPLMSNGAQDTSQTPQKTQGNEHRAQLPDASESVRQMLQDEMFKLVQLQQINFLSLMQIVGPSVASLPDMHGLLQQAQSVRFGESQVSNSTKSDCIEVNSRQRVSARAQSMGECTREPGKNSPADHKRISRPDQDSSGDTQDIPHGSVPLCQLDGQPEVRGQTGAPRSFAPASFPPAPAADSGLQLLFTPAAIQKTPQLIPPARAGAPGRGFPLLHFQPKRDFKPLSLPVGRIPQVSFRPQAQPKEAWSLSDSCQPPVSQRTVHTTLPSPSDSSHCNAEAMRKAEAVLTGIPKHVNMGQYAGQGYLTPQQDSSVFIKPENVFDVKPSPPETALQNSFGLPLLHLQFKPPYVFSAPPRAFSRFPSVPGTEGRNQPQLSLLHPCLPPENTYKKPQLIPLENLLAFKRSQQKLAHSVSGQGDAAPHFVGVSMDAAGITQGKQRQSRRAKRELQEGRAQKPRRKPNVSFRPEDSLISNDSEVIIEPKEQLGHHDSQHLDKFDIPFEMLEDDINTSAGLHFMASVRKKAVGSHDASTNTDPDKEGPSQKADSESSKNPQATAASSGHEPLKVPQLLIPDIYLNVRLPSGIAEKPLSPSPPHMAGHKYIDVVDIEADDLLGLPACEEPSDEVTKQQSHPPHAPSSAELHCMAASIVDAAPPHTFQSQESASSTRGLISEPAKVTQSCQSGESWRKSVIEAKEPEIPSVAPPSDRQQDRDILEQNFQFKEQSTKLDSVGQSLLWTLLQNASPACPTPSPAVCPRPSSPACPPPSPAVCPPPSPAACPTPSPAAQKFEHLTAKLQEMDEQLVAVQTMAENIEQDFPASQVLNLHWEKAGLGNHVGLSSGPDIEKLLASKAISISEEVSLQTQEDVEEQKDAEETSETEFSEAENHSSQKTYACPSVGSAACSSVGWNIPSPGLNDSNELLESGSEDQLQVTGLTDIADIIGDLITKSGVSSHELGLTECQARSISRIQRPPDRGPRRTAEERREIKAWMRRKQKERMSEYLGQLAERRGRERNPFCPTSSPFYMTSRQIRQRQKMKREKDRLQLSKHYSQRLSQAYSLMNELLSDSAHITAPAENPLPPGPYRRQRGSSPKRENAHGQSLPVNRPGGDRHISRSSHLCKGQPRGSSQLRGSQPPCQSQKPLRSRGAAGVGPPVQQACREDEREEMVVSPWTLPSEIHRILHGRPESLLQDMSPADEEEPEPPLLAGGMDSVSESTGSILSKLDWKAVEDMVASVEDKNLSVHWALDQ
uniprot
proteins
disease_involvement
DISEASE: Note=Defects in Jbts17 are the cause of the Hug (Heart under glass) phenotype which is a model of Joubert syndrome. Hug mice die prenatally and show skeletal dysplasia, craniofacial defects, polydactyly, cystic kidney, cerebellar hypoplasia and congenital heart defects of varying degrees. Most severely affected mutants die at mid-gestation with a transparent chest wall due to complete failure to form the rib cage. The phenotype is consistent with the spectrum of MKS-BBS-Joubert syndrome phenotypes. {ECO:0000269|PubMed:25877302}.
uniprot
proteins
function
FUNCTION: 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). {ECO:0000269|PubMed:25877302, ECO:0000305|PubMed:27158779}.
uniprot
proteins
mass_dalton
358550
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16141072
uniprot
proteins
pubmed
19468303
uniprot
proteins
pubmed
25877302
uniprot
proteins
pubmed
27158779
uniprot
proteins
sequence_length
3214
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}. Cell projection, cilium {ECO:0000269|PubMed:25877302}. Note=Localizes to the ciliary transition zone. {ECO:0000269|PubMed:25877302}.
uniprot
proteins
transmembrane_region
TRANSMEM 593..613; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 632..652; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins