NPHP3_HUMAN
ID NPHP3_HUMAN Reviewed; 1330 AA.
AC Q7Z494; Q5JPE3; Q5JPE6; Q68D99; Q6NVH3; Q7Z492; Q7Z493; Q8N9R2; Q8NCM5;
AC Q96N70; Q96NK2;
DT 05-JUL-2005, integrated into UniProtKB/Swiss-Prot.
DT 01-OCT-2003, sequence version 1.
DT 03-AUG-2022, entry version 165.
DE RecName: Full=Nephrocystin-3;
GN Name=NPHP3; Synonyms=KIAA2000;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), NUCLEOTIDE SEQUENCE [MRNA] OF
RP 117-1330, NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 5), NUCLEOTIDE SEQUENCE
RP [MRNA] OF 584-1330 (ISOFORM 3), INTERACTION WITH NPHP1, TISSUE SPECIFICITY,
RP AND VARIANTS NPHP3 THR-360; SER-386; HIS-397; PRO-1141; VAL-1221; ARG-1252
RP AND THR-1314.
RX PubMed=12872122; DOI=10.1038/ng1216;
RA Olbrich H., Fliegauf M., Hoefele J., Kispert A., Otto E., Volz A.,
RA Wolf M.T., Sasmaz G., Trauer U., Reinhardt R., Sudbrak R., Antignac C.,
RA Gretz N., Walz G., Schermer B., Benzing T., Hildebrandt F., Omran H.;
RT "Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis,
RT tapeto-retinal degeneration and hepatic fibrosis.";
RL Nat. Genet. 34:455-459(2003).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Brain;
RX PubMed=12056414; DOI=10.1093/dnares/9.2.47;
RA Ohara O., Nagase T., Mitsui G., Kohga H., Kikuno R., Hiraoka S.,
RA Takahashi Y., Kitajima S., Saga Y., Koseki H.;
RT "Characterization of size-fractionated cDNA libraries generated by the in
RT vitro recombination-assisted method.";
RL DNA Res. 9:47-57(2002).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 4), AND NUCLEOTIDE SEQUENCE
RP [LARGE SCALE MRNA] OF 319-1330.
RC TISSUE=Brain, Mammary gland, and Uterus;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3), AND NUCLEOTIDE SEQUENCE
RP [LARGE SCALE MRNA] OF 555-1330 (ISOFORM 6).
RC TISSUE=Fetal kidney, and Lymph node;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D.,
RA Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 7).
RC TISSUE=Salivary gland;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [6]
RP SUBCELLULAR LOCATION.
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 [7]
RP MYRISTOYLATION AT GLY-2, INTERACTION WITH UNC119 AND UNC119B, AND
RP SUBCELLULAR LOCATION.
RX PubMed=22085962; DOI=10.1101/gad.173443.111;
RA Wright K.J., Baye L.M., Olivier-Mason A., Mukhopadhyay S., Sang L.,
RA Kwong M., Wang W., Pretorius P.R., Sheffield V.C., Sengupta P.,
RA Slusarski D.C., Jackson P.K.;
RT "An ARL3-UNC119-RP2 GTPase cycle targets myristoylated NPHP3 to the primary
RT cilium.";
RL Genes Dev. 25:2347-2360(2011).
RN [8]
RP INTERACTION WITH CEP164.
RX PubMed=22863007; DOI=10.1016/j.cell.2012.06.028;
RA Chaki M., Airik R., Ghosh A.K., Giles R.H., Chen R., Slaats G.G., Wang H.,
RA Hurd T.W., Zhou W., Cluckey A., Gee H.Y., Ramaswami G., Hong C.J.,
RA Hamilton B.A., Cervenka I., Ganji R.S., Bryja V., Arts H.H.,
RA van Reeuwijk J., Oud M.M., Letteboer S.J., Roepman R., Husson H.,
RA Ibraghimov-Beskrovnaya O., Yasunaga T., Walz G., Eley L., Sayer J.A.,
RA Schermer B., Liebau M.C., Benzing T., Le Corre S., Drummond I., Janssen S.,
RA Allen S.J., Natarajan S., O'Toole J.F., Attanasio M., Saunier S.,
RA Antignac C., Koenekoop R.K., Ren H., Lopez I., Nayir A., Stoetzel C.,
RA Dollfus H., Massoudi R., Gleeson J.G., Andreoli S.P., Doherty D.G.,
RA Lindstrad A., Golzio C., Katsanis N., Pape L., Abboud E.B., Al-Rajhi A.A.,
RA Lewis R.A., Omran H., Lee E.Y., Wang S., Sekiguchi J.M., Saunders R.,
RA Johnson C.A., Garner E., Vanselow K., Andersen J.S., Shlomai J.,
RA Nurnberg G., Nurnberg P., Levy S., Smogorzewska A., Otto E.A.,
RA Hildebrandt F.;
RT "Exome capture reveals ZNF423 and CEP164 mutations, linking renal
RT ciliopathies to DNA damage response signaling.";
RL Cell 150:533-548(2012).
RN [9]
RP INTERACTION WITH NEK8.
RX PubMed=23418306; DOI=10.1093/hmg/ddt070;
RA Frank V., Habbig S., Bartram M.P., Eisenberger T., Veenstra-Knol H.E.,
RA Decker C., Boorsma R.A., Goebel H., Nuernberg G., Griessmann A., Franke M.,
RA Borgal L., Kohli P., Voelker L.A., Doetsch J., Nuernberg P., Benzing T.,
RA Bolz H.J., Johnson C., Gerkes E.H., Schermer B., Bergmann C.;
RT "Mutations in NEK8 link multiple organ dysplasia with altered Hippo
RT signalling and increased c-MYC expression.";
RL Hum. Mol. Genet. 22:2177-2185(2013).
RN [10]
RP INTERACTION WITH ANKS6; INVS AND NEK8.
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).
RN [11]
RP VARIANT RHPD1 GLN-973, INVOLVEMENT IN MKS7, FUNCTION, AND INTERACTION WITH
RP INVS.
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).
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 which
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 -!- SUBUNIT: Interacts with NPHP1 and INVS/NPHP2. Interacts (when
CC myristoylated) with UNC119 and UNC119B; interaction is required for
CC localization to cilium. Interacts with CEP164. Component of a complex
CC containing at least ANKS6, INVS, NEK8 and NPHP3. ANKS6 may organize
CC complex assembly by linking INVS and NPHP3 to NEK8 and INVS may target
CC the complex to the proximal ciliary axoneme.
CC {ECO:0000269|PubMed:12872122, ECO:0000269|PubMed:18371931,
CC ECO:0000269|PubMed:22085962, ECO:0000269|PubMed:22863007,
CC ECO:0000269|PubMed:23418306, ECO:0000269|PubMed:23793029}.
CC -!- INTERACTION:
CC Q7Z494; Q9UPV0: CEP164; NbExp=2; IntAct=EBI-2804263, EBI-3937015;
CC Q7Z494; Q9Y265: RUVBL1; NbExp=2; IntAct=EBI-2804263, EBI-353675;
CC Q7Z494; Q13432: UNC119; NbExp=3; IntAct=EBI-2804263, EBI-711260;
CC -!- SUBCELLULAR LOCATION: Cell projection, cilium
CC {ECO:0000269|PubMed:20462968, ECO:0000269|PubMed:22085962}.
CC Note=Localization to cilium is mediated via interaction with UNC119 and
CC UNC119B, which bind to the myristoyl moiety of the N-terminus.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=7;
CC Comment=Additional isoforms seem to exist.;
CC Name=1;
CC IsoId=Q7Z494-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q7Z494-2; Sequence=VSP_014480, VSP_014481;
CC Name=3;
CC IsoId=Q7Z494-3; Sequence=VSP_014488, VSP_014489;
CC Name=4;
CC IsoId=Q7Z494-4; Sequence=VSP_014482, VSP_014483;
CC Name=5;
CC IsoId=Q7Z494-5; Sequence=VSP_014486, VSP_014487;
CC Name=6;
CC IsoId=Q7Z494-6; Sequence=VSP_014490, VSP_014491;
CC Name=7;
CC IsoId=Q7Z494-7; Sequence=VSP_014484, VSP_014485;
CC -!- TISSUE SPECIFICITY: Widely expressed at low level. Expressed in heart,
CC placenta, liver, skeletal muscle, kidney and pancreas. Expressed at
CC very low level in brain and lung. {ECO:0000269|PubMed:12872122}.
CC -!- DISEASE: Nephronophthisis 3 (NPHP3) [MIM:604387]: An autosomal
CC recessive disorder resulting in end-stage renal disease. It is
CC characterized by polyuria, polydipsia, anemia. Onset of terminal renal
CC failure occurr significantly later (median age, 19 years) than in
CC juvenile nephronophthisis. Renal pathology is characterized by
CC alterations of tubular basement membranes, tubular atrophy and
CC dilation, sclerosing tubulointerstitial nephropathy, and renal cyst
CC development predominantly at the corticomedullary junction.
CC {ECO:0000269|PubMed:12872122}. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
CC -!- DISEASE: Renal-hepatic-pancreatic dysplasia 1 (RHPD1) [MIM:208540]: A
CC disease characterized by cystic malformations of the kidneys, liver,
CC and pancreas. The pathological findings consist of multicystic
CC dysplastic kidneys, dilated and dysgenetic bile ducts, a dysplastic
CC pancreas with dilated ducts, cysts, fibrosis and inflammatory
CC infiltrates. {ECO:0000269|PubMed:18371931}. Note=The disease is caused
CC by variants affecting the gene represented in this entry.
CC -!- DISEASE: Meckel syndrome 7 (MKS7) [MIM:267010]: A disorder
CC characterized by a combination of renal cysts and variably associated
CC features including developmental anomalies of the central nervous
CC system (typically encephalocele), hepatic ductal dysplasia and cysts,
CC and polydactyly. {ECO:0000269|PubMed:18371931}. Note=The disease is
CC caused by variants affecting the gene represented in this entry.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAB70891.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
CC Sequence=BAC02709.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
CC Sequence=BAC04268.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
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DR EMBL; AY257864; AAP83423.1; -; mRNA.
DR EMBL; AY257865; AAP83424.1; -; mRNA.
DR EMBL; AY257866; AAP83425.1; -; mRNA.
DR EMBL; AB082531; BAC02709.1; ALT_INIT; mRNA.
DR EMBL; AK055253; BAB70891.1; ALT_INIT; mRNA.
DR EMBL; AK055893; BAB71038.1; -; mRNA.
DR EMBL; AK094015; BAC04268.1; ALT_INIT; mRNA.
DR EMBL; AL832863; CAI46200.2; -; mRNA.
DR EMBL; AL832877; CAI46202.1; -; Transcribed_RNA.
DR EMBL; CR749498; CAH18321.1; -; mRNA.
DR EMBL; BC068082; AAH68082.1; -; mRNA.
DR CCDS; CCDS3078.1; -. [Q7Z494-1]
DR RefSeq; NP_694972.3; NM_153240.4. [Q7Z494-1]
DR PDB; 5L7K; X-ray; 2.10 A; B=2-7.
DR PDBsum; 5L7K; -.
DR AlphaFoldDB; Q7Z494; -.
DR SMR; Q7Z494; -.
DR BioGRID; 117962; 37.
DR CORUM; Q7Z494; -.
DR IntAct; Q7Z494; 26.
DR MINT; Q7Z494; -.
DR STRING; 9606.ENSP00000338766; -.
DR CarbonylDB; Q7Z494; -.
DR iPTMnet; Q7Z494; -.
DR PhosphoSitePlus; Q7Z494; -.
DR BioMuta; NPHP3; -.
DR DMDM; 68565783; -.
DR EPD; Q7Z494; -.
DR jPOST; Q7Z494; -.
DR MassIVE; Q7Z494; -.
DR MaxQB; Q7Z494; -.
DR PaxDb; Q7Z494; -.
DR PeptideAtlas; Q7Z494; -.
DR PRIDE; Q7Z494; -.
DR ProteomicsDB; 69163; -. [Q7Z494-1]
DR ProteomicsDB; 69164; -. [Q7Z494-2]
DR ProteomicsDB; 69165; -. [Q7Z494-3]
DR ProteomicsDB; 69166; -. [Q7Z494-4]
DR ProteomicsDB; 69167; -. [Q7Z494-5]
DR ProteomicsDB; 69168; -. [Q7Z494-6]
DR ProteomicsDB; 69169; -. [Q7Z494-7]
DR Antibodypedia; 2070; 109 antibodies from 23 providers.
DR DNASU; 27031; -.
DR Ensembl; ENST00000337331.10; ENSP00000338766.5; ENSG00000113971.21. [Q7Z494-1]
DR Ensembl; ENST00000383282.3; ENSP00000372769.2; ENSG00000113971.21. [Q7Z494-7]
DR Ensembl; ENST00000683570.1; ENSP00000508409.1; ENSG00000113971.21. [Q7Z494-4]
DR GeneID; 27031; -.
DR KEGG; hsa:27031; -.
DR MANE-Select; ENST00000337331.10; ENSP00000338766.5; NM_153240.5; NP_694972.3.
DR UCSC; uc003epe.3; human. [Q7Z494-1]
DR CTD; 27031; -.
DR DisGeNET; 27031; -.
DR GeneCards; NPHP3; -.
DR GeneReviews; NPHP3; -.
DR HGNC; HGNC:7907; NPHP3.
DR HPA; ENSG00000113971; Low tissue specificity.
DR MalaCards; NPHP3; -.
DR MIM; 208540; phenotype.
DR MIM; 267010; phenotype.
DR MIM; 604387; phenotype.
DR MIM; 608002; gene.
DR neXtProt; NX_Q7Z494; -.
DR OpenTargets; ENSG00000113971; -.
DR OpenTargets; ENSG00000274810; -.
DR Orphanet; 93591; Infantile nephronophthisis.
DR Orphanet; 93589; Late-onset nephronophthisis.
DR Orphanet; 3032; NPHP3-related Meckel-like syndrome.
DR Orphanet; 294415; Renal-hepatic-pancreatic dysplasia.
DR Orphanet; 3156; Senior-Loken syndrome.
DR PharmGKB; PA31708; -.
DR VEuPathDB; HostDB:ENSG00000113971; -.
DR eggNOG; KOG1840; Eukaryota.
DR GeneTree; ENSGT00940000156398; -.
DR HOGENOM; CLU_1744706_0_0_1; -.
DR InParanoid; Q7Z494; -.
DR OMA; TWHEENP; -.
DR OrthoDB; 377554at2759; -.
DR PhylomeDB; Q7Z494; -.
DR TreeFam; TF314010; -.
DR PathwayCommons; Q7Z494; -.
DR Reactome; R-HSA-5624138; Trafficking of myristoylated proteins to the cilium.
DR SignaLink; Q7Z494; -.
DR BioGRID-ORCS; 27031; 35 hits in 1074 CRISPR screens.
DR GeneWiki; NPHP3; -.
DR GenomeRNAi; 27031; -.
DR Pharos; Q7Z494; Tbio.
DR PRO; PR:Q7Z494; -.
DR Proteomes; UP000005640; Chromosome 3.
DR RNAct; Q7Z494; protein.
DR Bgee; ENSG00000113971; Expressed in superficial temporal artery and 188 other tissues.
DR ExpressionAtlas; Q7Z494; baseline and differential.
DR Genevisible; Q7Z494; HS.
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; IDA:UniProtKB.
DR GO; GO:0005829; C:cytosol; TAS:Reactome.
DR GO; GO:0005576; C:extracellular region; IEA:GOC.
DR GO; GO:0003283; P:atrial septum development; IMP:BHF-UCL.
DR GO; GO:0060271; P:cilium assembly; ISS:UniProtKB.
DR GO; GO:0060026; P:convergent extension; IBA:GO_Central.
DR GO; GO:0060027; P:convergent extension involved in gastrulation; IGI:BHF-UCL.
DR GO; GO:0071908; P:determination of intestine left/right asymmetry; IMP:BHF-UCL.
DR GO; GO:0007368; P:determination of left/right symmetry; IMP:BHF-UCL.
DR GO; GO:0071910; P:determination of liver left/right asymmetry; IMP:BHF-UCL.
DR GO; GO:0035469; P:determination of pancreatic left/right asymmetry; IMP:BHF-UCL.
DR GO; GO:0071909; P:determination of stomach left/right asymmetry; IMP:BHF-UCL.
DR GO; GO:0060287; P:epithelial cilium movement involved in determination of left/right asymmetry; IC:BHF-UCL.
DR GO; GO:0007163; P:establishment or maintenance of cell polarity; IEA:Ensembl.
DR GO; GO:0030198; P:extracellular matrix organization; IEA:Ensembl.
DR GO; GO:0001947; P:heart looping; IMP:BHF-UCL.
DR GO; GO:0001822; P:kidney development; IMP:BHF-UCL.
DR GO; GO:0060993; P:kidney morphogenesis; IMP:BHF-UCL.
DR GO; GO:0006629; P:lipid metabolic process; IEA:Ensembl.
DR GO; GO:0030324; P:lung development; IMP:BHF-UCL.
DR GO; GO:0048496; P:maintenance of animal organ identity; IMP:HGNC-UCL.
DR GO; GO:0090090; P:negative regulation of canonical Wnt signaling pathway; IDA:UniProtKB.
DR GO; GO:1905515; P:non-motile cilium assembly; IEA:Ensembl.
DR GO; GO:0045494; P:photoreceptor cell maintenance; IMP:HGNC-UCL.
DR GO; GO:0032092; P:positive regulation of protein binding; IEA:Ensembl.
DR GO; GO:2000167; P:regulation of planar cell polarity pathway involved in neural tube closure; IC:BHF-UCL.
DR GO; GO:2000095; P:regulation of Wnt signaling pathway, planar cell polarity pathway; ISS:UniProtKB.
DR GO; GO:0072189; P:ureter development; IMP:BHF-UCL.
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 1: Evidence at protein level;
KW 3D-structure; Alternative splicing; Cell projection; Ciliopathy; Cilium;
KW Coiled coil; Disease variant; Lipoprotein; Meckel syndrome; Myristate;
KW Nephronophthisis; Reference proteome; Repeat; TPR repeat;
KW Wnt signaling pathway.
FT INIT_MET 1
FT /note="Removed"
FT CHAIN 2..1330
FT /note="Nephrocystin-3"
FT /id="PRO_0000106301"
FT REPEAT 471..504
FT /note="TPR 1"
FT REPEAT 885..918
FT /note="TPR 2"
FT REPEAT 920..942
FT /note="TPR 3"
FT REPEAT 943..976
FT /note="TPR 4"
FT REPEAT 985..1018
FT /note="TPR 5"
FT REPEAT 1027..1060
FT /note="TPR 6"
FT REPEAT 1093..1126
FT /note="TPR 7"
FT REPEAT 1135..1168
FT /note="TPR 8"
FT REPEAT 1177..1210
FT /note="TPR 9"
FT REPEAT 1219..1252
FT /note="TPR 10"
FT REPEAT 1261..1294
FT /note="TPR 11"
FT REGION 1296..1330
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COILED 83..207
FT /evidence="ECO:0000255"
FT COMPBIAS 1301..1330
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT LIPID 2
FT /note="N-myristoyl glycine"
FT /evidence="ECO:0000269|PubMed:22085962"
FT VAR_SEQ 1..720
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:12056414"
FT /id="VSP_014480"
FT VAR_SEQ 132..181
FT /note="ALQKTYQKILREKESALEAKYQAMERAATFEHDRDKVKRQFKIFRETKEN
FT -> VTPGWAATPGDPWEARPSCSLSKPSGFESSAETAHFNLRGHILFESEMIP (in
FT isoform 4)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_014482"
FT VAR_SEQ 132..150
FT /note="ALQKTYQKILREKESALEA -> GLAAVARSRLTATWNSWAQ (in
FT isoform 7)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_014484"
FT VAR_SEQ 151..1330
FT /note="Missing (in isoform 7)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_014485"
FT VAR_SEQ 182..1330
FT /note="Missing (in isoform 4)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_014483"
FT VAR_SEQ 224..239
FT /note="AAGTQCEYWTGGALGS -> VSLESDQHPGIFIANF (in isoform 5)"
FT /evidence="ECO:0000303|PubMed:12872122"
FT /id="VSP_014486"
FT VAR_SEQ 240..1330
FT /note="Missing (in isoform 5)"
FT /evidence="ECO:0000303|PubMed:12872122"
FT /id="VSP_014487"
FT VAR_SEQ 630..636
FT /note="QVEKHMK -> VVAYTSS (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:12872122,
FT ECO:0000303|PubMed:17974005"
FT /id="VSP_014488"
FT VAR_SEQ 637..1330
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:12872122,
FT ECO:0000303|PubMed:17974005"
FT /id="VSP_014489"
FT VAR_SEQ 697..704
FT /note="EKKLERHC -> CWESRQFR (in isoform 6)"
FT /evidence="ECO:0000303|PubMed:17974005"
FT /id="VSP_014490"
FT VAR_SEQ 705..1330
FT /note="Missing (in isoform 6)"
FT /evidence="ECO:0000303|PubMed:17974005"
FT /id="VSP_014491"
FT VAR_SEQ 1330
FT /note="R -> RKVQSNLLSPEGLSNICAQEKTTRFTSS (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:12056414"
FT /id="VSP_014481"
FT VARIANT 360
FT /note="S -> T (in NPHP3; dbSNP:rs119456960)"
FT /evidence="ECO:0000269|PubMed:12872122"
FT /id="VAR_022815"
FT VARIANT 386
FT /note="N -> S (in NPHP3; dbSNP:rs142021049)"
FT /evidence="ECO:0000269|PubMed:12872122"
FT /id="VAR_022816"
FT VARIANT 397
FT /note="R -> H (in NPHP3; dbSNP:rs755094682)"
FT /evidence="ECO:0000269|PubMed:12872122"
FT /id="VAR_022817"
FT VARIANT 973
FT /note="R -> Q (in RHPD1; dbSNP:rs119456963)"
FT /evidence="ECO:0000269|PubMed:18371931"
FT /id="VAR_044121"
FT VARIANT 1141
FT /note="L -> P (in NPHP3; dbSNP:rs1057521090)"
FT /evidence="ECO:0000269|PubMed:12872122"
FT /id="VAR_022818"
FT VARIANT 1221
FT /note="A -> V (in NPHP3; dbSNP:rs202048210)"
FT /evidence="ECO:0000269|PubMed:12872122"
FT /id="VAR_022819"
FT VARIANT 1252
FT /note="S -> R (in NPHP3; dbSNP:rs143451766)"
FT /evidence="ECO:0000269|PubMed:12872122"
FT /id="VAR_022820"
FT VARIANT 1305
FT /note="R -> C (in dbSNP:rs35485382)"
FT /id="VAR_044122"
FT VARIANT 1314
FT /note="S -> T (in NPHP3; likely benign variant;
FT dbSNP:rs75316802)"
FT /evidence="ECO:0000269|PubMed:12872122"
FT /id="VAR_022821"
FT CONFLICT 223
FT /note="T -> TT (in Ref. 4; CAI46202)"
FT /evidence="ECO:0000305"
FT HELIX 3..6
FT /evidence="ECO:0007829|PDB:5L7K"
SQ SEQUENCE 1330 AA; 150864 MW; 99C1F17C9A5117F8 CRC64;
MGTASSLVSP AGGEVIEDTY GAGGGEACEI PVEVKPKARL LRNSFRRGAG AAAGAGPGSL
PRGVGAGGLL GASFKSTGSS VPELEYAAAE YERLRKEYEI FRVSKNQELL SMGRREAKLD
TENKRLRAEL QALQKTYQKI LREKESALEA KYQAMERAAT FEHDRDKVKR QFKIFRETKE
NEIQDLLRAK RELESKLQRL QAQGIQVFDP GESDSDDNCT DVTAAGTQCE YWTGGALGSE
PSIGSMIQLQ QSFRGPEFAH SSIDVEGPFA NVNRDDWDIA VASLLQVTPL FSHSLWSNTV
RCYLIYTDET QPEMDLFLKD YSPKLKRMCE TMGYFFHAVY FPIDVENQYL TVRKWEIEKS
SLVILFIHLT LPSLLLEDCE EAFLKNPEGK PRLIFHRLED GKVSSDSVQQ LIDQVSNLNK
TSKAKIIDHS GDPAEGVYKT YICVEKIIKQ DILGFENTDL ETKDLGSEDS IPEEDDFGDV
LWDIHDEQEQ METFQQASNS AHELGFEKYY QRLNDLVAAP APIPPLLVSG GPGSGKSLLL
SKWIQLQQKN SPNTLILSHF VGRPMSTSSE SSLIIKRLTL KLMQHSWSVS ALTLDPAKLL
EEFPRWLEKL SARHQGSIII VIDSIDQVQQ VEKHMKWLID PLPVNVRVIV SVNVETCPPA
WRLWPTLHLD PLSPKDAKSI IIAECHSVDI KLSKEQEKKL ERHCRSATTC NALYVTLFGK
MIARAGRAGN LDKILHQCFQ CQDTLSLYRL VLHSIRESMA NDVDKELMKQ ILCLVNVSHN
GVSESELMEL YPEMSWTFLT SLIHSLYKMC LLTYGCGLLR FQHLQAWETV RLEYLEGPTV
TSSYRQKLIN YFTLQLSQDR VTWRSADELP WLFQQQGSKQ KLHDCLLNLF VSQNLYKRGH
FAELLSYWQF VGKDKSAMAT EYFDSLKQYE KNCEGEDNMS CLADLYETLG RFLKDLGLLS
QAIVPLQRSL EIRETALDPD HPRVAQSLHQ LASVYVQWKK FGNAEQLYKQ ALEISENAYG
ADHPYTAREL EALATLYQKQ NKYEQAEHFR KKSFKIHQKA IKKKGNLYGF ALLRRRALQL
EELTLGKDTP DNARTLNELG VLYYLQNNLE TADQFLKRSL EMRERVLGPD HPDCAQSLNN
LAALCNEKKQ YDKAEELYER ALDIRRRALA PDHPSLAYTV KHLAILYKKM GKLDKAVPLY
ELAVEIRQKS FGPKHPSVAT ALVNLAVLYS QMKKHVEALP LYERALKIYE DSLGRMHPRV
GETLKNLAVL SYEGGDFEKA AELYKRAMEI KEAETSLLGG KAPSRHSSSG DTFSLKTAHS
PNVFLQQGQR
