ID   NPHP3_XENLA             Reviewed;        1300 AA.
AC   Q6AZT7;
DT   05-JUL-2005, integrated into UniProtKB/Swiss-Prot.
DT   13-SEP-2004, sequence version 1.
DT   03-AUG-2022, entry version 78.
DE   RecName: Full=Nephrocystin-3;
GN   Name=nphp3;
OS   Xenopus laevis (African clawed frog).
OC   Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Amphibia;
OC   Batrachia; Anura; Pipoidea; Pipidae; Xenopodinae; Xenopus; Xenopus.
OX   NCBI_TaxID=8355;
RN   [1]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC   TISSUE=Ovary;
RG   NIH - Xenopus Gene Collection (XGC) project;
RL   Submitted (JUL-2004) to the EMBL/GenBank/DDBJ databases.
RN   [2]
RP   FUNCTION.
RX   PubMed=18371931; DOI=10.1016/j.ajhg.2008.02.017;
RA   Bergmann C., Fliegauf M., Bruechle N.O., Frank V., Olbrich H.,
RA   Kirschner J., Schermer B., Schmedding I., Kispert A., Kraenzlin B.,
RA   Nuernberg G., Becker C., Grimm T., Girschick G., Lynch S.A., Kelehan P.,
RA   Senderek J., Neuhaus T.J., Stallmach T., Zentgraf H., Nuernberg P.,
RA   Gretz N., Lo C., Lienkamp S., Schaefer T., Walz G., Benzing T., Zerres K.,
RA   Omran H.;
RT   "Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-
RT   Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic
RT   dysplasia.";
RL   Am. J. Hum. Genet. 82:959-970(2008).
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:18371931}.
CC   -!- SUBCELLULAR LOCATION: Cell projection, cilium {ECO:0000250}.
CC   -!- DISRUPTION PHENOTYPE: Bilateral morpholino knockdown of the protein in
CC       the embryo causes gross body edema that is typical of a renal excretory
CC       defect. {ECO:0000269|PubMed:23793029}.
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DR   EMBL; BC077320; AAH77320.1; -; mRNA.
DR   RefSeq; NP_001086695.1; NM_001093226.1.
DR   AlphaFoldDB; Q6AZT7; -.
DR   SMR; Q6AZT7; -.
DR   MaxQB; Q6AZT7; -.
DR   DNASU; 446530; -.
DR   GeneID; 446530; -.
DR   KEGG; xla:446530; -.
DR   CTD; 446530; -.
DR   Xenbase; XB-GENE-865745; nphp3.L.
DR   OrthoDB; 377554at2759; -.
DR   Proteomes; UP000186698; Chromosome 6L.
DR   Bgee; 446530; Expressed in pancreas and 19 other tissues.
DR   GO; GO:0005929; C:cilium; ISS:UniProtKB.
DR   GO; GO:0060271; P:cilium assembly; ISS:UniProtKB.
DR   GO; GO:0060027; P:convergent extension involved in gastrulation; IMP:BHF-UCL.
DR   GO; GO:0090090; P:negative regulation of canonical Wnt signaling pathway; ISS:UniProtKB.
DR   GO; GO:2000095; P:regulation of Wnt signaling pathway, planar cell polarity pathway; IMP:UniProtKB.
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   2: Evidence at transcript level;
KW   Cell projection; Cilium; Coiled coil; Reference proteome; Repeat;
KW   TPR repeat; Wnt signaling pathway.
FT   CHAIN           1..1300
FT                   /note="Nephrocystin-3"
FT                   /id="PRO_0000106303"
FT   REPEAT          443..476
FT                   /note="TPR 1"
FT   REPEAT          916..949
FT                   /note="TPR 2"
FT   REPEAT          958..991
FT                   /note="TPR 3"
FT   REPEAT          1000..1033
FT                   /note="TPR 4"
FT   REPEAT          1066..1099
FT                   /note="TPR 5"
FT   REPEAT          1108..1141
FT                   /note="TPR 6"
FT   REPEAT          1150..1183
FT                   /note="TPR 7"
FT   REPEAT          1192..1225
FT                   /note="TPR 8"
FT   REPEAT          1234..1267
FT                   /note="TPR 9"
FT   REGION          1268..1288
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COILED          82..183
FT                   /evidence="ECO:0000255"
FT   COMPBIAS        1273..1288
FT                   /note="Polar residues"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
SQ   SEQUENCE   1300 AA;  148319 MW;  8EAE11EDBF8E5ED2 CRC64;
     MGTASSLVNA GEVIEDTYGG GGGEDCVIPV EVKPKARLLR SSFRRGPRVI GASFKSTASV
     DLEYAAEYER LKKEYEIFRV SKNNEVASMQ KKEIKLDEEN KRLRAELQAL QKTYQKILRE
     KESAVEAKYQ AMERAATFEH DRDKVKRQFK IFRETKEKEI QDLLRAKRDL EAKLQRLQAQ
     GIQVFDPGES DSDDNGTEVT VPSTQCEYWT SGALGSDPSM GSMMQLQQSF RGPEFAHSSI
     DVEGPFANVN RDDWDAAVAS LLQVTPLFSQ SLWSNTVRCY LMSTAETQAE VEIFLRDYSP
     KLQRMCETSG YFFQMVFFPE ECESQHFAVR KWEIEKSSIV ILFICSSLPS CLQEDCEEAF
     LKNNEAKPRL IYHSIEDGRS DSDGLKQLLE QDTNKANKTK VVDHCGDPVE GAYKLYCHLE
     QVIKQDLLGI EISDPDAKDE SATMEDDDYG DVLWDVHDEQ EQMEAYQQAS QSICELGFQK
     YYDRLNDLVA APAPIPPLLI SGGPGSGKSL LLSKWIQLQQ KHSPNTLMLY HFVGRPLSSS
     SEPSLIIKRL TLKLMQHSWS VSSLSMDPGK FLEEFPHWLE KLSIRYQGNI IIIIDSIDHI
     QQSEKHMKWL IDPLPVNVRV IVSVNVETCP QAWRLWPTLH LDPLNSKDVK ALINMECGGA
     NILLTKEQER KLERHCRSAT TCNALYVTLI TKLLTWAGST GKIEDVLQQC LQCQDTVSLY
     RLVLRSVQEV MPSAKEKEFM REILCFISVS HNGVSECELM ELCPGLTWEV LTSLIYHLYT
     LVLLKYTCGL LQFQHLQAWD AVNLEYMQGG QNIISEYREK IIKHFTTQLS HDRVTWRSAD
     ELTWLFQQQG EKQKLHKCLM NLFVSQNLYK RGHFAELLSY WQLVGKDKIS MASEYFDALK
     QYEKNCEGEE KMTSLADLYE TLGRFLKDLG LLSQAVTPLQ RSLEIRETAL DPDHPSVAQS
     LHQLAGVYMQ SKKFGNAEQL YKQALEISEN AYGSEHLRVA RELDALAVLY QKQNKFEQAE
     QLRKKSLKIR QKSARRKGSM YGFALLRRRA LQLEELTLGK DTSDNARTLN ELGVLYYLQN
     NLETAETFLK RSLEMRERVL GADHPDCAQS INNLAALYNE KKQYDKAEEL YERALDIRRR
     ALSPDHPSLA YTVKHLAVLY KRKGKLDKAV PLYELAVDIR QKSFGPKHPS VATALVNLAV
     LYCQMKKQDD ALPLYERAMK IYEDSLGRMH PRVGETLKNL AVLRYEEGDY EKAAELYKRA
     MEIKETETSV LGAKAPSGHS SSGGDTYSVQ NTLPVSVFPE