LOCUS       NM_001037650            5037 bp    mRNA    linear   ROD 24-JUN-2024
DEFINITION  Rattus norvegicus nephrocystin 4 (Nphp4), mRNA.
ACCESSION   NM_001037650 XM_233698
VERSION     NM_001037650.2
KEYWORDS    RefSeq.
SOURCE      Rattus norvegicus (Norway rat)
  ORGANISM  Rattus norvegicus
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
            Muroidea; Muridae; Murinae; Rattus.
REFERENCE   1  (bases 1 to 5037)
  AUTHORS   Dharmat,R., Eblimit,A., Robichaux,M.A., Zhang,Z., Nguyen,T.T.,
            Jung,S.Y., He,F., Jain,A., Li,Y., Qin,J., Overbeek,P., Roepman,R.,
            Mardon,G., Wensel,T.G. and Chen,R.
  TITLE     SPATA7 maintains a novel photoreceptor-specific zone in the distal
            connecting cilium
  JOURNAL   J Cell Biol 217 (8), 2851-2865 (2018)
   PUBMED   29899041
REFERENCE   2  (bases 1 to 5037)
  AUTHORS   Borgal,L., Habbig,S., Hatzold,J., Liebau,M.C., Dafinger,C.,
            Sacarea,I., Hammerschmidt,M., Benzing,T. and Schermer,B.
  TITLE     The ciliary protein nephrocystin-4 translocates the canonical Wnt
            regulator Jade-1 to the nucleus to negatively regulate beta-catenin
            signaling
  JOURNAL   J Biol Chem 287 (30), 25370-25380 (2012)
   PUBMED   22654112
REFERENCE   3  (bases 1 to 5037)
  AUTHORS   French,V.M., van de Laar,I.M., Wessels,M.W., Rohe,C.,
            Roos-Hesselink,J.W., Wang,G., Frohn-Mulder,I.M., Severijnen,L.A.,
            de Graaf,B.M., Schot,R., Breedveld,G., Mientjes,E., van
            Tienhoven,M., Jadot,E., Jiang,Z., Verkerk,A., Swagemakers,S.,
            Venselaar,H., Rahimi,Z., Najmabadi,H., Meijers-Heijboer,H., de
            Graaff,E., Helbing,W.A., Willemsen,R., Devriendt,K., Belmont,J.W.,
            Oostra,B.A., Amack,J.D. and Bertoli-Avella,A.M.
  TITLE     NPHP4 variants are associated with pleiotropic heart malformations
  JOURNAL   Circ Res 110 (12), 1564-1574 (2012)
   PUBMED   22550138
REFERENCE   4  (bases 1 to 5037)
  AUTHORS   Sang,L., Miller,J.J., Corbit,K.C., Giles,R.H., Brauer,M.J.,
            Otto,E.A., Baye,L.M., Wen,X., Scales,S.J., Kwong,M.,
            Huntzicker,E.G., Sfakianos,M.K., Sandoval,W., Bazan,J.F.,
            Kulkarni,P., Garcia-Gonzalo,F.R., Seol,A.D., O'Toole,J.F., Held,S.,
            Reutter,H.M., Lane,W.S., Rafiq,M.A., Noor,A., Ansar,M., Devi,A.R.,
            Sheffield,V.C., Slusarski,D.C., Vincent,J.B., Doherty,D.A.,
            Hildebrandt,F., Reiter,J.F. and Jackson,P.K.
  TITLE     Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy
            disease genes and pathways
  JOURNAL   Cell 145 (4), 513-528 (2011)
   PUBMED   21565611
REFERENCE   5  (bases 1 to 5037)
  AUTHORS   Jakobsen,L., Vanselow,K., Skogs,M., Toyoda,Y., Lundberg,E.,
            Poser,I., Falkenby,L.G., Bennetzen,M., Westendorf,J., Nigg,E.A.,
            Uhlen,M., Hyman,A.A. and Andersen,J.S.
  TITLE     Novel asymmetrically localizing components of human centrosomes
            identified by complementary proteomics methods
  JOURNAL   EMBO J 30 (8), 1520-1535 (2011)
   PUBMED   21399614
REFERENCE   6  (bases 1 to 5037)
  AUTHORS   Hoefele,J., Wolf,M.T., O'Toole,J.F., Otto,E.A., Schultheiss,U.,
            Deschenes,G., Attanasio,M., Utsch,B., Antignac,C. and
            Hildebrandt,F.
  TITLE     Evidence of oligogenic inheritance in nephronophthisis
  JOURNAL   J Am Soc Nephrol 18 (10), 2789-2795 (2007)
   PUBMED   17855640
REFERENCE   7  (bases 1 to 5037)
  AUTHORS   Arts,H.H., Doherty,D., van Beersum,S.E., Parisi,M.A.,
            Letteboer,S.J., Gorden,N.T., Peters,T.A., Marker,T., Voesenek,K.,
            Kartono,A., Ozyurek,H., Farin,F.M., Kroes,H.Y., Wolfrum,U.,
            Brunner,H.G., Cremers,F.P., Glass,I.A., Knoers,N.V. and Roepman,R.
  TITLE     Mutations in the gene encoding the basal body protein RPGRIP1L, a
            nephrocystin-4 interactor, cause Joubert syndrome
  JOURNAL   Nat Genet 39 (7), 882-888 (2007)
   PUBMED   17558407
REFERENCE   8  (bases 1 to 5037)
  AUTHORS   Hoefele,J., Sudbrak,R., Reinhardt,R., Lehrack,S., Hennig,S.,
            Imm,A., Muerb,U., Utsch,B., Attanasio,M., O'Toole,J.F., Otto,E. and
            Hildebrandt,F.
  TITLE     Mutational analysis of the NPHP4 gene in 250 patients with
            nephronophthisis
  JOURNAL   Hum Mutat 25 (4), 411 (2005)
   PUBMED   15776426
REFERENCE   9  (bases 1 to 5037)
  AUTHORS   Hoefele,J., Otto,E., Felten,H., Kuhn,K., Bley,T.A., Zauner,I.,
            Hildebrandt,F. and Neumann,H.P.
  TITLE     Clinical and histological presentation of 3 siblings with mutations
            in the NPHP4 gene
  JOURNAL   Am J Kidney Dis 43 (2), 358-364 (2004)
   PUBMED   14750102
REFERENCE   10 (bases 1 to 5037)
  AUTHORS   Otto,E., Hoefele,J., Ruf,R., Mueller,A.M., Hiller,K.S., Wolf,M.T.,
            Schuermann,M.J., Becker,A., Birkenhager,R., Sudbrak,R.,
            Hennies,H.C., Nurnberg,P. and Hildebrandt,F.
  TITLE     A gene mutated in nephronophthisis and retinitis pigmentosa encodes
            a novel protein, nephroretinin, conserved in evolution
  JOURNAL   Am J Hum Genet 71 (5), 1161-1167 (2002)
   PUBMED   12205563
COMMENT     PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from CH473968.1.
            
            On May 30, 2008 this sequence version replaced NM_001037650.1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            RNAseq introns :: single sample supports all introns SAMEA5760383,
                              SAMEA5760389 [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..5037
                     /organism="Rattus norvegicus"
                     /mol_type="mRNA"
                     /db_xref="taxon:10116"
                     /chromosome="5"
                     /map="5q36"
     gene            1..5037
                     /gene="Nphp4"
                     /note="nephrocystin 4"
                     /db_xref="GeneID:313749"
                     /db_xref="RGD:1560172"
     exon            1..294
                     /gene="Nphp4"
                     /inference="alignment:Splign:2.1.0"
     exon            295..475
                     /gene="Nphp4"
                     /inference="alignment:Splign:2.1.0"
     CDS             341..4627
                     /gene="Nphp4"
                     /note="nephronophthisis 4 (juvenile) homolog"
                     /codon_start=1
                     /product="nephrocystin-4"
                     /protein_id="NP_001032739.2"
                     /db_xref="GeneID:313749"
                     /db_xref="RGD:1560172"
                     /translation="MDDWHRAFTQNTLVPPHPQRARQFGKESTAFQCILKWLDGPLIK
                     QGILDMLSELECHLRVSLFDVTYKHFFGRTWKTTVKPTNQLSKQPPRILFNEPLYFHT
                     TLSHPSIVAVIEVVAEGRKRDGALQVLSCGFGILRIFGNKPESPTSAGQDKRLRLYHG
                     TPRALLHPLLQDPIEQNRYMTMMENCSLQYTLKPHPPLEPAFHLLPENFLISGLQQIP
                     GLLPPHGDTGDALRKPRFQKPTTLHLDDLFFTLYPSLEKFEEELVQLLISDHFREGVG
                     LLDSGTLEVLERRLHVCVHNGLGFVHRPQVVVLVPEMDMTLTRSASFSRRITASSKSS
                     SGNQALVLRSHLRLPEMVNHPSFAIVFQLEYVFNSPSGADGSASSSTSLSSLACMHMV
                     RWAVWNPDLEAGPGKVTLPLQGGVQHNPSRCLVYKVPSASMSSEEVKQVESGTIQFHF
                     SLSSDALTEHANGPRAGRRSTRKALTSPSGTPALAARDLAAIQDSPVGPGLSLSQLAA
                     SPQSLASQRSFKPPPQPLDGSQSPEGPQLQAGSVLESRISHLEADLSQPPFSVQGTPT
                     VEHLQELPFTPLHAPIVVGAQTRSSRSQLSRAAMVLLQSSGFPEILDARQQPVEAVNP
                     MDPVRFNPQKEESDCLLGNEIVLQFLAFSRAAQDCPGAPWPQTVYFTFQFYRFPPETT
                     PRLQLVKLDRTGKNGSASLSHILVHINKDGSFDAGSPGFQLRYMVDPGFLKPGEQRWF
                     AQYLAAQTLQVDVWDGDSLLLIGSAGIQMKHLLRQGRPAVQVSHELEVVATEYEQEMM
                     VVSGDVAGFGSVKPIGVHTVVKGRLHLTLANVGHECEPRARGSNALPPSRSRVISNNG
                     ASFFSGGSLLIPGGPKRKRVVQAQKLADVDSELAAMLLTHTRAGQGPQAVGQEADAVH
                     RRKLERMRLVRLQEAGGDSDSRRISVLARHSVRAQHSRDLQVIDAYRERTKAENIASV
                     LSQAITTHHTLYATLGTAEFFEFALKNPHNTQHTVAIEIDSPELSIILDSQEWRYFKE
                     ATGLLTPLEEDMFHLRGSLAPQLYLRPRETAHIPFKFQNFSVGPPAPTQAPAEVISEK
                     DAESGPHWKCSAMPTKHAKVLFRVETGQLIAVLCLTVEPQPHVVDQVFRFYHPELTFL
                     KKAIRLPPWHTLPGAPVGMPGEDPPVHVRCSDPNVICEAQNVGLGEPRDVFLKVASGP
                     SPEIKDFFVVIYADRWLAVPVQTWQVCLHSLQRVDVSCVAGQMTRLSLVLRGTQTVRK
                     VRAFTSHPQELKTDPAGVFVLPPHGVQDLHVGVRPRRAGSRFIHLNLVDVDYHQLVAS
                     WLVCLSCRQPLISKAFEITMAAGEGKGANKRITYTNPYPSRRTYRLHSDRPDLLHFKE
                     DSFQVAGGETYTIGLRFLPSGSAGQEEILIYINDQDDKNEETFCVKVLYQ"
     exon            476..628
                     /gene="Nphp4"
                     /inference="alignment:Splign:2.1.0"
     exon            629..801
                     /gene="Nphp4"
                     /inference="alignment:Splign:2.1.0"
     exon            802..866
                     /gene="Nphp4"
                     /inference="alignment:Splign:2.1.0"
     exon            867..1022
                     /gene="Nphp4"
                     /inference="alignment:Splign:2.1.0"
     exon            1023..1159
                     /gene="Nphp4"
                     /inference="alignment:Splign:2.1.0"
     exon            1160..1341
                     /gene="Nphp4"
                     /inference="alignment:Splign:2.1.0"
     exon            1342..1468
                     /gene="Nphp4"
                     /inference="alignment:Splign:2.1.0"
     exon            1469..1651
                     /gene="Nphp4"
                     /inference="alignment:Splign:2.1.0"
     exon            1652..1778
                     /gene="Nphp4"
                     /inference="alignment:Splign:2.1.0"
     exon            1779..1840
                     /gene="Nphp4"
                     /inference="alignment:Splign:2.1.0"
     exon            1841..1957
                     /gene="Nphp4"
                     /inference="alignment:Splign:2.1.0"
     exon            1958..2109
                     /gene="Nphp4"
                     /inference="alignment:Splign:2.1.0"
     exon            2110..2301
                     /gene="Nphp4"
                     /inference="alignment:Splign:2.1.0"
     exon            2302..2489
                     /gene="Nphp4"
                     /inference="alignment:Splign:2.1.0"
     exon            2490..2650
                     /gene="Nphp4"
                     /inference="alignment:Splign:2.1.0"
     exon            2651..2831
                     /gene="Nphp4"
                     /inference="alignment:Splign:2.1.0"
     exon            2832..2957
                     /gene="Nphp4"
                     /inference="alignment:Splign:2.1.0"
     exon            2958..3163
                     /gene="Nphp4"
                     /inference="alignment:Splign:2.1.0"
     exon            3164..3390
                     /gene="Nphp4"
                     /inference="alignment:Splign:2.1.0"
     exon            3391..3577
                     /gene="Nphp4"
                     /inference="alignment:Splign:2.1.0"
     exon            3578..3661
                     /gene="Nphp4"
                     /inference="alignment:Splign:2.1.0"
     exon            3662..3818
                     /gene="Nphp4"
                     /inference="alignment:Splign:2.1.0"
     exon            3819..3904
                     /gene="Nphp4"
                     /inference="alignment:Splign:2.1.0"
     exon            3905..3990
                     /gene="Nphp4"
                     /inference="alignment:Splign:2.1.0"
     exon            3991..4162
                     /gene="Nphp4"
                     /inference="alignment:Splign:2.1.0"
     exon            4163..4342
                     /gene="Nphp4"
                     /inference="alignment:Splign:2.1.0"
     exon            4343..4486
                     /gene="Nphp4"
                     /inference="alignment:Splign:2.1.0"
     exon            4487..5037
                     /gene="Nphp4"
                     /inference="alignment:Splign:2.1.0"
ORIGIN      
        1 ggttgccagc tgaagttcgg ctgctgggat tccttcggtt agtctactga ccctgtgtgc
       61 gcagccgtcc ggggctgaaa ccgatgctgt gagctcgcca gagccttgaa gatgctcaca
      121 gtctggtgta cgcgcctcta tcccagccct aggccgtgca gctctcttag gcccctgcgg
      181 ccctcgatgc actgtgaggc ccttggccca gtccaagtcc agccctcggg gcgcagggct
      241 gacctcctcc tccactgctc ggaattgcaa cccacactgc tgtccgggtt cccaatggtg
      301 cagggagtcc cggagaccca cgtgaggttg gacaggcagc atggatgact ggcacagagc
      361 cttcacccag aacacactgg tccctcccca cccgcagaga gcgcggcagt ttgggaagga
      421 gtccacggcg ttccagtgca tcctgaagtg gcttgatggg ccactcatta agcagggaat
      481 cctagacatg ctgtctgagc ttgaatgcca cctgcgagtg tctctcttcg acgtcaccta
      541 caaacatttc ttcgggagga cgtggaaaac cacagtgaag cccaccaatc agctctctaa
      601 gcagccaccc aggatcctct tcaatgagcc cttgtacttc cacacaacct tgagccaccc
      661 cagcatcgtg gctgtaatag aagtggtcgc tgaaggcagg aagagggacg gtgccctgca
      721 ggtgctgtcc tgtgggtttg gaattcttcg aatttttggc aataagccgg aatctcccac
      781 ctctgcaggc caggacaaac ggttgaggct gtatcatggt acccccagag cccttctgca
      841 cccacttctc caggatccca tagaacagaa caggtacatg acaatgatgg aaaactgtag
      901 cctgcagtat accctgaagc cacacccgcc cctggagccc gccttccacc tgctccccga
      961 gaacttcctg atctccggtc tccagcagat ccctggcctc ctcccacctc atggagacac
     1021 gggtgatgcc ctgaggaagc ctcgcttcca gaagcccacc acattgcacc tagatgacct
     1081 cttcttcacc ctgtacccct ccctggagaa gtttgaggag gaacttgtgc agctgctcat
     1141 cagcgaccac ttccgggagg gggttggcct gctagatagc ggcaccctag aggtcttgga
     1201 gcggcgcctg catgtctgtg tccacaacgg tctgggcttc gtgcacaggc cacaggtggt
     1261 tgtgcttgta cctgagatgg acatgacctt gacgcgctcg gccagcttca gcaggagaat
     1321 cactgcctct tctaagagca gctctggaaa tcaggctctg gttttgagaa gccacctgag
     1381 actcccggag atggtcaatc acccatcgtt tgccatcgtc ttccagctgg agtacgtgtt
     1441 caacagcccc tcaggagcgg acggcagtgc cagctcatcc acctctctgt ccagcttggc
     1501 gtgcatgcac atggttcgat gggctgtttg gaaccccgat ctggaagcag gcccgggaaa
     1561 ggtgacgctg cctcttcagg gtggggtaca gcacaacccc tcacgatgtc tggtctataa
     1621 ggtgccttcg gctagcatga gctctgagga ggtgaagcag gtggaatccg gaaccatcca
     1681 gttccacttc tcactgagct cagatgccct tacagagcat gccaacggcc ccagggcagg
     1741 gcggcgctcc accagaaagg cactaacgtc cccttcaggc acaccagcac tggcagcccg
     1801 ggatcttgct gcgatacagg actctcctgt gggcccaggg ctctcgctct cccagctggc
     1861 ggcctcccca cagtctctgg cctcacaaag atctttcaag cctcctcctc agcccctgga
     1921 tggctctcag tccccagagg gtccccagct ccaagcagga tctgtattag agagcaggat
     1981 ctctcatctg gaagctgacc tgagccagcc gcccttctcg gtgcagggga cgcccactgt
     2041 agaacaccta caggaacttc ccttcactcc tttgcatgcc cccattgtgg tgggagccca
     2101 gaccaggagc tccagaagcc agctctccag agctgccatg gtcctcctgc agtcttccgg
     2161 cttccctgag atccttgatg ccaggcagca gccggtggag gccgtcaatc ccatggatcc
     2221 tgtgaggttc aaccctcaga aggaggagtc agactgcctt ctagggaatg agatcgtgct
     2281 gcagtttctt gccttcagca gagcggccca ggactgcccg ggagcgccgt ggccacagac
     2341 tgtgtatttc accttccagt tctaccgttt cccacccgag accacgccac gcctgcagct
     2401 ggtcaaactg gacaggacag gcaagaacgg ctctgcctcc ctgtctcaca tcctggtcca
     2461 catcaataaa gacggctcct ttgacgctgg ctcccctggc ttccagctga ggtacatggt
     2521 ggatcccggg ttcctgaagc caggagagca gcgctggttc gcccagtacc tggccgctca
     2581 gacgctgcaa gtcgacgtct gggatggaga ctccttgctc ctcattgggt ctgccggcat
     2641 ccagatgaag cacctcctcc gccaagggcg gccagctgtt caggtctcac atgaactgga
     2701 ggtcgtggcc actgagtacg aacaggaaat gatggtggtg agcggcgacg tggcgggctt
     2761 cggcagcgtc aagcccatcg gagtccacac ggtcgtgaag ggccggctgc acctgacctt
     2821 ggccaacgtg ggtcacgagt gtgaaccgag agcaagaggt tccaacgcgc tgccaccatc
     2881 caggtcccgg gtcatctcaa ataatggagc cagcttcttc tctgggggaa gcctcctcat
     2941 accaggaggc cccaagcgaa agcgtgtggt tcaagcccag aagctggctg atgtggacag
     3001 tgagctggcc gccatgctgc tgacccacac tcgagctggc caggggcccc aggctgtggg
     3061 ccaggaggca gacgctgtgc acaggcgcaa gctggaaagg atgcggctgg tgcgcctgca
     3121 ggaggccgga ggggactctg acagtcgcag gatcagcgtg ctggcccgac acagtgtccg
     3181 tgcacagcac tcacgggacc tgcaggtcat cgacgcctac cgggaacgga ccaaggctga
     3241 gaacattgcc agcgtgttga gccaggccat caccacacac cacacactgt atgccacgct
     3301 gggcacggct gagttcttcg agtttgcact taaaaaccca cacaacactc agcacacggt
     3361 ggccatcgag attgacagcc ctgagctcag catcatcctg gacagccagg agtggaggta
     3421 cttcaaggag gccactggcc tgctcacacc cctggaggag gacatgttcc acctgcgtgg
     3481 gagcctggca ccccagctct acctgcggcc ccgggagact gcccacatcc ccttcaagtt
     3541 ccagaacttc tctgtgggcc cacctgctcc gacacaggcc cctgcggagg tgatctcaga
     3601 gaaggatgca gagtctggac cccattggaa gtgcagtgcc atgcctacca aacacgccaa
     3661 ggtccttttc cgggtggaga ccggccagct cattgctgtg ctctgcctga ccgtggagcc
     3721 ccagccccac gtggtggacc aggttttccg tttctaccac ccagaactca ccttcctgaa
     3781 gaaggccatc cgcctgccgc cctggcacac gcttccaggt gctcccgtgg ggatgcctgg
     3841 cgaggacccc ccagtccacg ttcgatgcag cgacccgaat gtcatctgcg aggcccagaa
     3901 cgtgggcctt ggtgagccga gggacgtgtt ccttaaggtg gccagcggtc caagcccgga
     3961 gatcaaagac ttctttgtcg tcatctatgc ggatcgctgg ctggcggtgc ccgtgcagac
     4021 atggcaggtc tgcctccact ccctgcagcg cgtggatgtc tcctgtgtcg cagggcagat
     4081 gacccgtctg tccctcgtcc tacgggggac gcagaccgtt aggaaagtga gagctttcac
     4141 ctcccaccct caggagctga agacagaccc cgctggtgtc tttgtgttac cacctcacgg
     4201 ggtgcaggac ctgcatgtgg gcgtgaggcc aaggagggcg ggcagccgct tcatccatct
     4261 caacctggtg gacgtcgact accaccagct ggtcgcgtcg tggctcgtgt gcctgtcctg
     4321 ccgccagccc ctcatttcca aggccttcga gatcaccatg gcagcaggcg aagggaaggg
     4381 tgccaacaag cggatcacct acaccaaccc ctacccttct cggaggacct accgtctgca
     4441 cagtgaccgg ccagacctgc tgcatttcaa ggaggactcc ttccaggtgg ccggagggga
     4501 gacctacacc atcgggctgc ggttcttgcc gagtggcagc gccgggcagg aggagatcct
     4561 gatctacatc aatgaccagg acgacaagaa tgaagagaca ttctgtgtga aggtcctcta
     4621 ccagtgaggg gatggctgtg aggccagcgc cccttccaga gtgcccctcc ctgcagacat
     4681 cactgtgact ccaggactgg tctgcgtagc ccatggagct gactgagtgc agggagacaa
     4741 aggctaccct cgccatggtg tagcataatc ccatgagcga atgtgacctc cggggtcacg
     4801 gcagtggctc actctgccta tggcactcac aaggttgtgt cacaccccat gactctcagg
     4861 ctgtcaccgt ctagaacaaa ctgttttata aatcatttcc aatgacaaaa ttatgttttt
     4921 ctttctagat ttttaaaaaa tgaacacaat atattttcat ttgctatgta ttttatactg
     4981 gaattccctt gtatatatat tttttaagtt attgaatgaa gcacctcact tcggctg
//
