ID   NPHP3_DANRE             Reviewed;        1303 AA.
AC   P0CI65;
DT   11-JAN-2011, integrated into UniProtKB/Swiss-Prot.
DT   11-JAN-2011, sequence version 1.
DT   03-AUG-2022, entry version 61.
DE   RecName: Full=Nephrocystin-3;
GN   Name=nphp3; ORFNames=si:dkey-56l10.1;
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]
RP   FUNCTION.
RX   PubMed=20462968; DOI=10.1152/ajprenal.00043.2010;
RA   Zhou W., Dai J., Attanasio M., Hildebrandt F.;
RT   "Nephrocystin-3 is required for ciliary function in zebrafish embryos.";
RL   Am. J. Physiol. 299:F55-F62(2010).
RN   [3]
RP   DISRUPTION PHENOTYPE.
RX   PubMed=23793029; DOI=10.1038/ng.2681;
RA   Hoff S., Halbritter J., Epting D., Frank V., Nguyen T.M., van Reeuwijk J.,
RA   Boehlke C., Schell C., Yasunaga T., Helmstadter M., Mergen M., Filhol E.,
RA   Boldt K., Horn N., Ueffing M., Otto E.A., Eisenberger T., Elting M.W.,
RA   van Wijk J.A., Bockenhauer D., Sebire N.J., Rittig S., Vyberg M., Ring T.,
RA   Pohl M., Pape L., Neuhaus T.J., Elshakhs N.A., Koon S.J., Harris P.C.,
RA   Grahammer F., Huber T.B., Kuehn E.W., Kramer-Zucker A., Bolz H.J.,
RA   Roepman R., Saunier S., Walz G., Hildebrandt F., Bergmann C.,
RA   Lienkamp S.S.;
RT   "ANKS6 is a central component of a nephronophthisis module linking NEK8 to
RT   INVS and NPHP3.";
RL   Nat. Genet. 45:951-956(2013).
CC   -!- FUNCTION: Required for normal ciliary development and function.
CC       Inhibits disheveled-1-induced canonical Wnt-signaling activity and may
CC       also play a role in the control of non-canonical Wnt signaling that
CC       regulates planar cell polarity. Probably acts as a molecular switch
CC       between different Wnt signaling pathways. Required for proper
CC       convergent extension cell movements. {ECO:0000269|PubMed:20462968}.
CC   -!- SUBCELLULAR LOCATION: Cell projection, cilium {ECO:0000250}.
CC   -!- DISRUPTION PHENOTYPE: Morpholino knockdown of the protein in the embryo
CC       causes ventral body curvature, pronephric cyst formation and laterality
CC       defects, including reversed heart looping.
CC       {ECO:0000269|PubMed:23793029}.
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DR   EMBL; BX470247; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; CR381660; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   RefSeq; NP_001189370.1; NM_001202441.1.
DR   RefSeq; XP_009295568.1; XM_009297293.2.
DR   AlphaFoldDB; P0CI65; -.
DR   SMR; P0CI65; -.
DR   STRING; 7955.ENSDARP00000101271; -.
DR   PaxDb; P0CI65; -.
DR   Ensembl; ENSDART00000110629; ENSDARP00000101271; ENSDARG00000078261.
DR   GeneID; 562601; -.
DR   KEGG; dre:562601; -.
DR   CTD; 27031; -.
DR   ZFIN; ZDB-GENE-091204-117; nphp3.
DR   eggNOG; KOG1840; Eukaryota.
DR   GeneTree; ENSGT00940000156398; -.
DR   HOGENOM; CLU_007418_0_0_1; -.
DR   InParanoid; P0CI65; -.
DR   OMA; RCYLMYT; -.
DR   OrthoDB; 377554at2759; -.
DR   PhylomeDB; P0CI65; -.
DR   Reactome; R-DRE-5624138; Trafficking of myristoylated proteins to the cilium.
DR   PRO; PR:P0CI65; -.
DR   Proteomes; UP000000437; Genome assembly.
DR   Proteomes; UP000814640; Chromosome 24.
DR   Bgee; ENSDARG00000078261; Expressed in testis and 19 other tissues.
DR   ExpressionAtlas; P0CI65; baseline.
DR   GO; GO:0097546; C:ciliary base; IBA:GO_Central.
DR   GO; GO:0097543; C:ciliary inversin compartment; IBA:GO_Central.
DR   GO; GO:0005929; C:cilium; ISS:UniProtKB.
DR   GO; GO:0060271; P:cilium assembly; IMP:UniProtKB.
DR   GO; GO:0060026; P:convergent extension; IMP:ZFIN.
DR   GO; GO:0007368; P:determination of left/right symmetry; IBA:GO_Central.
DR   GO; GO:0003146; P:heart jogging; IMP:ZFIN.
DR   GO; GO:0001822; P:kidney development; IBA:GO_Central.
DR   GO; GO:0070121; P:Kupffer's vesicle development; IMP:ZFIN.
DR   GO; GO:0060972; P:left/right pattern formation; IMP:ZFIN.
DR   GO; GO:0048793; P:pronephros development; IGI:ZFIN.
DR   GO; GO:0007601; P:visual perception; IMP:ZFIN.
DR   GO; GO:0016055; P:Wnt signaling pathway; IEA:UniProtKB-KW.
DR   Gene3D; 1.25.40.10; -; 3.
DR   Gene3D; 3.40.50.300; -; 1.
DR   InterPro; IPR027417; P-loop_NTPase.
DR   InterPro; IPR011990; TPR-like_helical_dom_sf.
DR   InterPro; IPR019734; TPR_repeat.
DR   Pfam; PF13176; TPR_7; 1.
DR   SMART; SM00028; TPR; 8.
DR   SUPFAM; SSF48452; SSF48452; 2.
DR   SUPFAM; SSF52540; SSF52540; 1.
DR   PROSITE; PS50005; TPR; 8.
DR   PROSITE; PS50293; TPR_REGION; 1.
PE   3: Inferred from homology;
KW   Cell projection; Cilium; Coiled coil; Reference proteome; Repeat;
KW   TPR repeat; Wnt signaling pathway.
FT   CHAIN           1..1303
FT                   /note="Nephrocystin-3"
FT                   /id="PRO_0000402545"
FT   REPEAT          449..482
FT                   /note="TPR 1"
FT   REPEAT          802..840
FT                   /note="TPR 2"
FT   REPEAT          921..954
FT                   /note="TPR 3"
FT   REPEAT          963..996
FT                   /note="TPR 4"
FT   REPEAT          1005..1038
FT                   /note="TPR 5"
FT   REPEAT          1071..1104
FT                   /note="TPR 6"
FT   REPEAT          1113..1146
FT                   /note="TPR 7"
FT   REPEAT          1155..1188
FT                   /note="TPR 8"
FT   REPEAT          1197..1230
FT                   /note="TPR 9"
FT   REPEAT          1239..1272
FT                   /note="TPR 10"
FT   REGION          1276..1303
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COILED          81..183
FT                   /evidence="ECO:0000255"
FT   COMPBIAS        1280..1303
FT                   /note="Polar residues"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
SQ   SEQUENCE   1303 AA;  148262 MW;  4A220667506DBF00 CRC64;
     MGTASSLVSP GEVIEDAYGG EGGEACEIPV EVKPKARLLR SSFRRGPRVI GASFKSTGSV
     ELEYAAEYER LRKDYEIFRV SKNNEITSMQ KKEAKLDEEN KRLRAELQAL QKTYQKILRE
     KESALEAKYQ AMERAATFEH DRDKVKRQFK IFRETKEKEI QDLLRAKRDL ESKLQQLQAQ
     GIQIYDPADS DSDDNHTTVT TAGTQCEYWS GGVLGSEPSM GSMMQLQQTH RGPEFAHSLI
     DVEGPFANVS RDDWDAAVAS LLQVSPHVSQ SLWSNTVRCY LIYTHETKAE LQTFIQTYSL
     RLRRFCEGLG HFYLNVSFPE EKAAVFAAER RREMERSSVC VLLLKSSVSS CVVEDVEEAF
     VKTPDARPLL LYLRTADRKG EKEEVSTLSP ATRDLLERVN KADRSAKLKV VDHAGSVEEG
     AALIFSQLER IIKQELLGLE LEENGVVEER EEEDSGDVLW DLHDEQEQIE AFQQACGAAA
     RFSFQKYVDR LNDMVAAPPP TPPLLVSGAP GSGKSLLLAK WIELQQKHSP NTLILYHFTG
     RPLSTSTDPV LIIKRLTVKL LQHFWSISGL SMDPSKILEE FPRWLERLSA RHHGNIIIII
     DSIDQIQNAE RHMKWLIDPL PANVRVLVSV NVETCPQAWR LWPTLHLDPL NPREVKSVIS
     TECVSVDIKL SKDQEKKLEK HCRSAATCNA LYVSLLARLI THFSTSWTLD RTLQQCVMCQ
     DTVSLYRLGL KVALDSLNSD QEKHIMKELL CLVCASHNGI SESEVLELFP DLTFPALISM
     LHNLERLLII TYACGLIRFQ HSQACEGVNQ EFLDGDKCRG SYREKCIRFF SQQLEQDRVT
     WRVADELPWL LQQQEDRSKL QMSLLNLFVS QNLYKRGHFS ELLAYWQFVG KDKCSMATEY
     FDALKEFEKT CESEQSMSRL ANLYETLGRF LKDLGLLSQA VAPLQRSLEI RETALDPDHP
     SVAQSLHQLA GVYVHWRKFG NAEQLYKQAM EICENAYGPE HSTVARELDS LSLLYQKQNK
     YEQAEKLRKR SVKIRQKTAR QKGHMYGFAL LKRRALQLEE LTLGKDSTDC AKTLNELGVL
     YYLQNNLDAA KLFLTRSLEM RQRVLGPDHP DCAQSLNNLA ALHSERKEYE SAEELYERAL
     DIRKRALAPD HPSLAYTLKH LAMLYKRRGK LEKAVPLYEL ALEIREKSFG PKHPSVATAL
     VNLAVLYCQL KQHSDALPLY ERALKVYEDS LGRLHPRVGE TLKNLAVLSY EEGDFEKAAE
     LYKRAMEIKE AEPSLVCGKA PSRHSSSGDT FSMRSPALPN ASR