ID   CE290_DANRE             Reviewed;        2439 AA.
AC   P85001;
DT   31-OCT-2006, integrated into UniProtKB/Swiss-Prot.
DT   31-OCT-2006, sequence version 1.
DT   03-AUG-2022, entry version 77.
DE   RecName: Full=Centrosomal protein of 290 kDa;
DE            Short=Cep290;
GN   Name=cep290; ORFNames=im:7145703;
OS   Danio rerio (Zebrafish) (Brachydanio rerio).
OC   Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC   Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes;
OC   Danionidae; Danioninae; Danio.
OX   NCBI_TaxID=7955;
RN   [1]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RC   STRAIN=Tuebingen;
RX   PubMed=23594743; DOI=10.1038/nature12111;
RA   Howe K., Clark M.D., Torroja C.F., Torrance J., Berthelot C., Muffato M.,
RA   Collins J.E., Humphray S., McLaren K., Matthews L., McLaren S., Sealy I.,
RA   Caccamo M., Churcher C., Scott C., Barrett J.C., Koch R., Rauch G.J.,
RA   White S., Chow W., Kilian B., Quintais L.T., Guerra-Assuncao J.A., Zhou Y.,
RA   Gu Y., Yen J., Vogel J.H., Eyre T., Redmond S., Banerjee R., Chi J., Fu B.,
RA   Langley E., Maguire S.F., Laird G.K., Lloyd D., Kenyon E., Donaldson S.,
RA   Sehra H., Almeida-King J., Loveland J., Trevanion S., Jones M., Quail M.,
RA   Willey D., Hunt A., Burton J., Sims S., McLay K., Plumb B., Davis J.,
RA   Clee C., Oliver K., Clark R., Riddle C., Elliot D., Threadgold G.,
RA   Harden G., Ware D., Begum S., Mortimore B., Kerry G., Heath P.,
RA   Phillimore B., Tracey A., Corby N., Dunn M., Johnson C., Wood J., Clark S.,
RA   Pelan S., Griffiths G., Smith M., Glithero R., Howden P., Barker N.,
RA   Lloyd C., Stevens C., Harley J., Holt K., Panagiotidis G., Lovell J.,
RA   Beasley H., Henderson C., Gordon D., Auger K., Wright D., Collins J.,
RA   Raisen C., Dyer L., Leung K., Robertson L., Ambridge K., Leongamornlert D.,
RA   McGuire S., Gilderthorp R., Griffiths C., Manthravadi D., Nichol S.,
RA   Barker G., Whitehead S., Kay M., Brown J., Murnane C., Gray E.,
RA   Humphries M., Sycamore N., Barker D., Saunders D., Wallis J., Babbage A.,
RA   Hammond S., Mashreghi-Mohammadi M., Barr L., Martin S., Wray P.,
RA   Ellington A., Matthews N., Ellwood M., Woodmansey R., Clark G., Cooper J.,
RA   Tromans A., Grafham D., Skuce C., Pandian R., Andrews R., Harrison E.,
RA   Kimberley A., Garnett J., Fosker N., Hall R., Garner P., Kelly D., Bird C.,
RA   Palmer S., Gehring I., Berger A., Dooley C.M., Ersan-Urun Z., Eser C.,
RA   Geiger H., Geisler M., Karotki L., Kirn A., Konantz J., Konantz M.,
RA   Oberlander M., Rudolph-Geiger S., Teucke M., Lanz C., Raddatz G.,
RA   Osoegawa K., Zhu B., Rapp A., Widaa S., Langford C., Yang F.,
RA   Schuster S.C., Carter N.P., Harrow J., Ning Z., Herrero J., Searle S.M.,
RA   Enright A., Geisler R., Plasterk R.H., Lee C., Westerfield M.,
RA   de Jong P.J., Zon L.I., Postlethwait J.H., Nusslein-Volhard C.,
RA   Hubbard T.J., Roest Crollius H., Rogers J., Stemple D.L.;
RT   "The zebrafish reference genome sequence and its relationship to the human
RT   genome.";
RL   Nature 496:498-503(2013).
RN   [2] {ECO:0000305}
RP   FUNCTION, DEVELOPMENTAL STAGE, AND DISRUPTION PHENOTYPE.
RX   PubMed=16682973; DOI=10.1038/ng1786;
RA   Sayer J.A., Otto E.A., O'toole J.F., Nurnberg G., Kennedy M.A., Becker C.,
RA   Hennies H.C., Helou J., Attanasio M., Fausett B.V., Utsch B., Khanna H.,
RA   Liu Y., Drummond I., Kawakami I., Kusakabe T., Tsuda M., Ma L., Lee H.,
RA   Larson R.G., Allen S.J., Wilkinson C.J., Nigg E.A., Shou C., Lillo C.,
RA   Williams D.S., Hoppe B., Kemper M.J., Neuhaus T., Parisi M.A., Glass I.A.,
RA   Petry M., Kispert A., Gloy J., Ganner A., Walz G., Zhu X., Goldman D.,
RA   Nurnberg P., Swaroop A., Leroux M.R., Hildebrandt F.;
RT   "The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and
RT   activates transcription factor ATF4.";
RL   Nat. Genet. 38:674-681(2006).
CC   -!- FUNCTION: Involved in early and late steps in cilia formation. May play
CC       a role in early ciliogenesis in the disappearance of centriolar
CC       satellites and in the transition of primary ciliar vesicles (PCVs) to
CC       capped ciliary vesicles (CCVs). In the ciliary transition zone is part
CC       of the tectonic-like complex which is required for tissue-specific
CC       ciliogenesis and may regulate ciliary membrane composition. Involved in
CC       regulation of the BBSome complex integrity and in ciliary targeting of
CC       selected BBSome cargos. Required for the correct localization of
CC       ciliary and phototransduction proteins in retinal photoreceptor cells;
CC       may play a role in ciliary transport processes (By similarity).
CC       Involved in development of the nervous system and kidney
CC       (PubMed:16682973). {ECO:0000250|UniProtKB:O15078,
CC       ECO:0000250|UniProtKB:Q6A078, ECO:0000269|PubMed:16682973}.
CC   -!- SUBUNIT: Part of the tectonic-like complex (also named B9 complex).
CC       {ECO:0000250}.
CC   -!- SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing
CC       center, centrosome {ECO:0000250}. Cytoplasm, cytoskeleton, microtubule
CC       organizing center, centrosome, centriolar satellite {ECO:0000250}.
CC       Nucleus {ECO:0000250}. Cytoplasm, cytoskeleton, cilium basal body
CC       {ECO:0000250}. Note=Localizes at the transition zone, a region between
CC       the basal body and the ciliary axoneme. {ECO:0000250}.
CC   -!- DEVELOPMENTAL STAGE: At 24 hours post-fertilization (hpf), expressed in
CC       the tail in a rostral-to-caudal gradient and more weakly expressed in
CC       the cerebellum and retina. At 48 hpf, strongly expressed at the
CC       boundary between the developing cerebellum and tectum and in the
CC       retina. {ECO:0000269|PubMed:16682973}.
CC   -!- DISRUPTION PHENOTYPE: Morpholino knockdown of the protein causes
CC       defects in retinal, cerebellar and otic cavity development and cyst
CC       formation in pronephric kidney tubules. {ECO:0000269|PubMed:16682973}.
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DR   EMBL; BX901919; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   AlphaFoldDB; P85001; -.
DR   SMR; P85001; -.
DR   STRING; 7955.ENSDARP00000124972; -.
DR   PaxDb; P85001; -.
DR   PRIDE; P85001; -.
DR   ZFIN; ZDB-GENE-041111-243; cep290.
DR   eggNOG; ENOG502QPTZ; Eukaryota.
DR   InParanoid; P85001; -.
DR   PhylomeDB; P85001; -.
DR   Reactome; R-DRE-2565942; Regulation of PLK1 Activity at G2/M Transition.
DR   Reactome; R-DRE-380259; Loss of Nlp from mitotic centrosomes.
DR   Reactome; R-DRE-380270; Recruitment of mitotic centrosome proteins and complexes.
DR   Reactome; R-DRE-380284; Loss of proteins required for interphase microtubule organization from the centrosome.
DR   Reactome; R-DRE-380320; Recruitment of NuMA to mitotic centrosomes.
DR   Reactome; R-DRE-5620912; Anchoring of the basal body to the plasma membrane.
DR   Reactome; R-DRE-6798695; Neutrophil degranulation.
DR   Reactome; R-DRE-8854518; AURKA Activation by TPX2.
DR   PRO; PR:P85001; -.
DR   Proteomes; UP000000437; Genome assembly.
DR   Proteomes; UP000814640; Unplaced.
DR   GO; GO:0034451; C:centriolar satellite; ISS:UniProtKB.
DR   GO; GO:0005813; C:centrosome; ISS:UniProtKB.
DR   GO; GO:0035869; C:ciliary transition zone; IBA:GO_Central.
DR   GO; GO:0005737; C:cytoplasm; IEA:UniProtKB-KW.
DR   GO; GO:0005634; C:nucleus; ISS:UniProtKB.
DR   GO; GO:0043010; P:camera-type eye development; IGI:ZFIN.
DR   GO; GO:0021549; P:cerebellum development; IMP:ZFIN.
DR   GO; GO:0097711; P:ciliary basal body-plasma membrane docking; IBA:GO_Central.
DR   GO; GO:1905349; P:ciliary transition zone assembly; IBA:GO_Central.
DR   GO; GO:0001654; P:eye development; IMP:ZFIN.
DR   GO; GO:0042462; P:eye photoreceptor cell development; IMP:HGNC-UCL.
DR   GO; GO:0007369; P:gastrulation; IGI:ZFIN.
DR   GO; GO:0060322; P:head development; IGI:ZFIN.
DR   GO; GO:0030902; P:hindbrain development; IMP:HGNC-UCL.
DR   GO; GO:0048839; P:inner ear development; IGI:ZFIN.
DR   GO; GO:0001822; P:kidney development; IBA:GO_Central.
DR   GO; GO:1905515; P:non-motile cilium assembly; IBA:GO_Central.
DR   GO; GO:0030916; P:otic vesicle formation; IMP:HGNC-UCL.
DR   GO; GO:0045494; P:photoreceptor cell maintenance; IMP:ZFIN.
DR   GO; GO:0090316; P:positive regulation of intracellular protein transport; ISS:UniProtKB.
DR   GO; GO:0048793; P:pronephros development; IMP:HGNC-UCL.
DR   GO; GO:0015031; P:protein transport; ISS:UniProtKB.
DR   InterPro; IPR032321; Cep209_CC5.
DR   InterPro; IPR026201; Cep290.
DR   PANTHER; PTHR18879; PTHR18879; 3.
DR   Pfam; PF16574; CEP209_CC5; 1.
PE   2: Evidence at transcript level;
KW   Cell projection; Cilium biogenesis/degradation; Coiled coil; Cytoplasm;
KW   Cytoskeleton; Developmental protein; Nucleus; Protein transport;
KW   Reference proteome; Transport.
FT   CHAIN           1..2439
FT                   /note="Centrosomal protein of 290 kDa"
FT                   /id="PRO_0000258014"
FT   REGION          1802..1824
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   REGION          1867..1890
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   REGION          2017..2048
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COILED          75..913
FT                   /evidence="ECO:0000255"
FT   COILED          1271..1576
FT                   /evidence="ECO:0000255"
FT   COILED          2046..2394
FT                   /evidence="ECO:0000255"
FT   COMPBIAS        2022..2036
FT                   /note="Polar residues"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
SQ   SEQUENCE   2439 AA;  283434 MW;  B64BB271A5C64C71 CRC64;
     MPAAADWRLL MGMDPEDLGD EDEKICDLIL MVKPRDLKAD DSEKMIQLFR ISQTLLRMKL
     DEIKCAYEVV DSAGAEQARI ENELKAKVLK LESELEMAQR VMGGGDKHFL RDEIRQLESH
     LERKEKEVTQ LEKEMGKERK SNEELALRAE EAEEKNRKLK REIKQLTRKN EQLQQDIEFY
     RKEAEQRESL QTKEESNEIQ RRLTKANQQL YQCMEELQHA EDMAANLRSE NEHLQKNLEE
     SVKEMEKMTD EYNKMKIAVQ QTDAIMDQLR KDRDHAKLQV RELTDQIQAR VEEDDPVMAA
     VNAKVEEWKS VLSGKDLEIL EYQQMIRDLR EKLRTAQMDS DKSNIIALQQ AVQERDNQIK
     MLSEQVEQYT TEMERNAMLI EELKRPLKKD KGHSSDHQRR LEDLSAKLQV AERKVLEAQR
     AAQLAERDAR DKDKELNDTL SRIRLYESGT DGLEAAISEI KECKNQIRVR DREIEGMIKE
     INQLEMKINN LLDENEDLRE RLGLNPKEEL DLSEFRRSKI LKQRQYKAEN QVLLKEIERL
     EEERLELKQR IRALVKDKGV TVVSNSLLDN SVEEKPVRSL RPSSGSTDDE IKRKNERLQK
     ELSNKEKELE LRRSESAQFK AKLNEMLNEN KQLEQGMKEI LQAIQDTQKK TPTSTGVSIP
     SLERLVNALE MKYSEGKFDA SLHLRTQVDQ LTGRNEELRL EMKTAREEAA NTLSQLTKAN
     EKIARLESEM ESMSKSTGSS IPHKTLALPE EMTPTSAEAI NALNEYTVQL LQEIKNKGDS
     IEQLGSALEE YKRKFAVIRH QQGLLYKEHQ SERESWQKER DSFAELKSKL EEQREVDAVK
     IKEYNHLLET LEKDPSEIRR EMAETGRKIV VLRVNEKCLT RRYTTLLELE QHLRKENAKL
     KEDFTQMQAV VTERIGYLQR FKEMAAFKMA SLQKSLDVSV PASELERANK QYTELTIKYR
     NLLQKDNHLV QKTTSLEHLE TENMSLRERI DSINKELEIS KEKLHTLEQA FENISTTGGE
     IIMDKATKAV ANSEIVSVSR RITTLEMKEL NERQRAEHAQ KMYEHLRNSL KQVEERNFEL
     ETKFAELTKL NLEAQRIERE LRDELADSVS KHISDADRKR ITELEKTEAN LRIEVSKLRE
     VSDVAKMQVS ALDARQQSRE KEVESLRRQV LDYQAESDEK ALIAKLHQHI VALQLSETTA
     ISRLEATNTR LQKLEAQKLR DEQKLDEQQQ ALWHARQEGH QRARHLRHTI QALRRQFSGA
     LPLAQQEKFS NTMLHLQEDR ARVREDAQIA EEERRKAEGK AQELELKLKG LEELIATLKD
     AKGAQKVSEW HKKLEDVRLL EMRQSRELNT QREEIKYLKN CVAEQECTIS GLEEELVQQN
     NLLEERQLIW DQREVQLERQ LDSYEKQQNE VLNTAQKFEE ATGSLPDPNQ PLANQLDYAL
     GKIKEHVRTI LETKTTCKIL EEKLKEKEAA LWSSEQNVLS RDKVINELRL RLPAAAEREK
     LLADLSKQED SESQPTLKVA HQTINNLQGR LDQKEEVLKK YQNLLGKARQ EQEEIAKRHE
     EEVRALHQKL DVYMDTSLDR FKQTALELIK KPTITVPTSK HLVRLAEMEQ TVAEQDNSLS
     SLSQKLKIVT QELDQQRQVT AAQAMEHAAD MARLEDKHAA QMKGLSQEAE ELRAQLIQME
     KELHYLRTEL EAQKEANVRS PSNTMKNLVE RLKNQLALKE KQLKALSKAL LELRAELTSQ
     AEQQIITNAA QKEEALNVQQ IVDKQTKELR ACVRDLNEEL QLAKDGVRAA KARENSLKED
     LETLNKDLQR SQKSQNKLQS EKEALEEHLN ELKKKIQRLS SGLQAQVESD GPTVDSLQKK
     IRKLEHELDR KSISEPADKR STLKEDKSSK EEVVRWEEGK KWQARVDKMR NVLKEKEREV
     DSQAKQLATM KELYSRLEQE KVSLQKKLKG RGVTADQVVG ARTLEADKEI EELHKRNAEL
     EQQIKVMKQQ QALPRDAAME DITIRNRYLE ERLYSMESRL SKEPPSRPST SGRGSDTPSQ
     REHEFQKENL RLSTENLELR FQLEQANKDL PRLKDQVSDL KEMCSVLKKE KAEVEKRLSH
     LRGSGRSGKT IPELEKTIGL MKKVVEKVQR ENENLKKTSE VNVQEQLATL ERDHEKLKSE
     YEKLKGKQEE QLNSRLESKT KGIEKIMMEN ERLRKEIKKE AEAAEKLRVA KASLEVANEK
     LKAELEETHQ RLLLAQSKGA TLLGVDSKTW KSSVVTRLFE NKMKGLESDI AKKNISISEL
     KVQLKEANEK LQATQHTVIQ LKEQVELLKN VPVEATTDEG LAREYQSVRL ANKQLEREKA
     QLLRQIQRNE VQLGTNKDGP GYTELQEQIK AANNEKKKLQ DEVRKLTQEL KHFDPTFFEE
     LEDLKFNYNL EVKKNIVLEE QLKKLSDQFG VAIPDVSIN