LOCUS       NM_016902               2303 bp    mRNA    linear   ROD 28-JAN-2025
DEFINITION  Mus musculus nephronophthisis 1 (juvenile) homolog (human) (Nphp1),
            transcript variant 1, mRNA.
ACCESSION   NM_016902
VERSION     NM_016902.4
KEYWORDS    RefSeq; RefSeq Select.
SOURCE      Mus musculus (house mouse)
  ORGANISM  Mus musculus
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
            Muroidea; Muridae; Murinae; Mus; Mus.
REFERENCE   1  (bases 1 to 2303)
  AUTHORS   Adams,D.J., Barlas,B., McIntyre,R.E., Salguero,I., van der
            Weyden,L., Barros,A., Vicente,J.R., Karimpour,N., Haider,A.,
            Ranzani,M., Turner,G., Thompson,N.A., Harle,V., Olvera-Leon,R.,
            Robles-Espinoza,C.D., Speak,A.O., Geisler,N., Weninger,W.J.,
            Geyer,S.H., Hewinson,J., Karp,N.A., Fu,B., Yang,F., Kozik,Z.,
            Choudhary,J., Yu,L., van Ruiten,M.S., Rowland,B.D., Lelliott,C.J.,
            Del Castillo Velasco-Herrera,M., Verstraten,R., Bruckner,L.,
            Henssen,A.G., Rooimans,M.A., de Lange,J., Mohun,T.J., Arends,M.J.,
            Kentistou,K.A., Coelho,P.A., Zhao,Y., Zecchini,H., Perry,J.R.B.,
            Jackson,S.P. and Balmus,G.
  CONSRTM   Sanger Mouse Genetics Project
  TITLE     Genetic determinants of micronucleus formation in vivo
  JOURNAL   Nature 627 (8002), 130-136 (2024)
   PUBMED   38355793
REFERENCE   2  (bases 1 to 2303)
  AUTHORS   Hu,Q., Lai,J., Chen,H., Cai,Y., Yue,Z., Lin,H. and Sun,L.
  TITLE     Reducing GEF-H1 Expression Inhibits Renal Cyst Formation,
            Inflammation, and Fibrosis via RhoA Signaling in Nephronophthisis
  JOURNAL   Int J Mol Sci 24 (4), 3504 (2023)
   PUBMED   36834937
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2303)
  AUTHORS   Garcia,H., Serafin,A.S., Silbermann,F., Poree,E., Viau,A.,
            Mahaut,C., Billot,K., Birgy,E., Garfa-Traore,M., Roy,S.,
            Ceccarelli,S., Mehraz,M., Rodriguez,P.C., Deleglise,B., Furio,L.,
            Jabot-Hanin,F., Cagnard,N., Del Nery,E., Fila,M., Sin-Monnot,S.,
            Antignac,C., Lyonnet,S., Krug,P., Salomon,R., Annereau,J.P.,
            Benmerah,A., Delous,M., Briseno-Roa,L. and Saunier,S.
  TITLE     Agonists of prostaglandin E2 receptors as potential first in class
            treatment for nephronophthisis and related ciliopathies
  JOURNAL   Proc Natl Acad Sci U S A 119 (18), e2115960119 (2022)
   PUBMED   35482924
REFERENCE   4  (bases 1 to 2303)
  AUTHORS   Li,D., Hu,M., Chen,H., Wu,X., Wei,X., Lin,H., Gao,X., Wang,H.,
            Li,M., Ong,A.C.M., Yue,Z. and Sun,L.
  TITLE     An Nphp1 knockout mouse model targeting exon 2-20 demonstrates
            characteristic phenotypes of human nephronophthisis
  JOURNAL   Hum Mol Genet 31 (2), 232-243 (2021)
   PUBMED   34415307
  REMARK    GeneRIF: An Nphp1 knockout mouse model targeting exon 2-20
            demonstrates characteristic phenotypes of human nephronophthisis.
REFERENCE   5  (bases 1 to 2303)
  AUTHORS   Datta,P., Cribbs,J.T. and Seo,S.
  TITLE     Differential requirement of NPHP1 for compartmentalized protein
            localization during photoreceptor outer segment development and
            maintenance
  JOURNAL   PLoS One 16 (5), e0246358 (2021)
   PUBMED   33961633
  REMARK    GeneRIF: Differential requirement of NPHP1 for compartmentalized
            protein localization during photoreceptor outer segment development
            and maintenance.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2303)
  AUTHORS   Otto,E.A., Schermer,B., Obara,T., O'Toole,J.F., Hiller,K.S.,
            Mueller,A.M., Ruf,R.G., Hoefele,J., Beekmann,F., Landau,D.,
            Foreman,J.W., Goodship,J.A., Strachan,T., Kispert,A., Wolf,M.T.,
            Gagnadoux,M.F., Nivet,H., Antignac,C., Walz,G., Drummond,I.A.,
            Benzing,T. and Hildebrandt,F.
  TITLE     Mutations in INVS encoding inversin cause nephronophthisis type 2,
            linking renal cystic disease to the function of primary cilia and
            left-right axis determination
  JOURNAL   Nat Genet 34 (4), 413-420 (2003)
   PUBMED   12872123
REFERENCE   7  (bases 1 to 2303)
  AUTHORS   Chiellini,C., Costa,M., Novelli,S.E., Amri,E.Z., Benzi,L.,
            Bertacca,A., Cohen,P., Del Prato,S., Friedman,J.M. and Maffei,M.
  TITLE     Identification of cathepsin K as a novel marker of adiposity in
            white adipose tissue
  JOURNAL   J Cell Physiol 195 (2), 309-321 (2003)
   PUBMED   12652657
REFERENCE   8  (bases 1 to 2303)
  AUTHORS   Benzing,T., Gerke,P., Hopker,K., Hildebrandt,F., Kim,E. and Walz,G.
  TITLE     Nephrocystin interacts with Pyk2, p130(Cas), and tensin and
            triggers phosphorylation of Pyk2
  JOURNAL   Proc Natl Acad Sci U S A 98 (17), 9784-9789 (2001)
   PUBMED   11493697
REFERENCE   9  (bases 1 to 2303)
  AUTHORS   Donaldson,J.C., Dempsey,P.J., Reddy,S., Bouton,A.H., Coffey,R.J.
            and Hanks,S.K.
  TITLE     Crk-associated substrate p130(Cas) interacts with nephrocystin and
            both proteins localize to cell-cell contacts of polarized
            epithelial cells
  JOURNAL   Exp Cell Res 256 (1), 168-178 (2000)
   PUBMED   10739664
REFERENCE   10 (bases 1 to 2303)
  AUTHORS   Otto,E., Kispert,A., Schatzle,S., Lescher,B., Rensing,C. and
            Hildebrandt,F.
  TITLE     Nephrocystin: gene expression and sequence conservation between
            human, mouse, and Caenorhabditis elegans
  JOURNAL   J Am Soc Nephrol 11 (2), 270-282 (2000)
   PUBMED   10665934
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BY147655.1, AK159627.1, BY353783.1 and AA107655.1.
            
            On Mar 21, 2014 this sequence version replaced NM_016902.3.
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (a).
            
            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##
            Transcript exon combination :: AF176210.1, AF127180.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMN00849374,
                                           SAMN00849375 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-24                BY147655.1         2-25
            25-916              AK159627.1         2-893
            917-971             BY353783.1         204-258
            972-2293            AK159627.1         946-2267
            2294-2303           AA107655.1         345-354
FEATURES             Location/Qualifiers
     source          1..2303
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="2"
                     /map="2 62.09 cM"
     gene            1..2303
                     /gene="Nphp1"
                     /note="nephronophthisis 1 (juvenile) homolog (human)"
                     /db_xref="GeneID:53885"
                     /db_xref="MGI:MGI:1858233"
     exon            1..106
                     /gene="Nphp1"
                     /inference="alignment:Splign:2.1.0"
     CDS             38..2113
                     /gene="Nphp1"
                     /note="isoform a is encoded by transcript variant 1;
                     nephrocystin-1"
                     /codon_start=1
                     /product="nephrocystin-1 isoform a"
                     /protein_id="NP_058598.1"
                     /db_xref="CCDS:CCDS16709.1"
                     /db_xref="GeneID:53885"
                     /db_xref="MGI:MGI:1858233"
                     /translation="MLARRPRDPLQALRRRGQELKLQVDSLVTESQLTGALEPSKRRE
                     IYQRCIQLKQAVDENKNTLQKLNKADEAAPVGNYEQRKEEEHSLLEKLACQLQELAVS
                     ISRKDALKVEAHSDKEEDDTTEDDEEETGGEEEESEGDGEGKQEQASPKQAETETVTY
                     IALGDFAAQQTGDLTFKKGDVLHIIEKKPDGWWLAKDAEGVEGLIPRTYLEPYNKEDK
                     LESSEGSEEGGEEDGEEDGEEDVEVVDETADGAQVKQRTDSHWSAVRKAISEQINTVD
                     VLATMGAIPAGFRPSTLSQLLDEAGNQFRASYFLQPELTTSQLAFRDLTWDAKAGTIM
                     SRPSRVSLILTLWSCKMIPLPGTSIQVLSRHIRLCLFDGSKVLSNIHTVRAVWQPKKP
                     KTWTFSPQVTGILPCLLDGDCFIRSNSSTPDLGILFELGISYIRNSTGERGELSCGWV
                     FLKLFDASGVPIPAKTYELFLNGGTPYEKGVEVDPSVSRRAQGSVFRQMISVRRQPQL
                     LVKLRSLNRRSRAMLSLLPETLVGSMCSAHLLIFYRQILGDVLLRDRTNLQSADLISH
                     PVLATFPLLLEQPDVMDALRSSWSEKESTLKRAEKRDKELLKAEFLLVYHDCVLPLLH
                     STLLPPFRWAEEETEAARWKAIADFLKQSRENEGSLKALLSPDGVHKPFDLSEQTFDF
                     LGEIRKNSG"
     exon            107..180
                     /gene="Nphp1"
                     /inference="alignment:Splign:2.1.0"
     exon            181..241
                     /gene="Nphp1"
                     /inference="alignment:Splign:2.1.0"
     exon            242..366
                     /gene="Nphp1"
                     /inference="alignment:Splign:2.1.0"
     exon            367..568
                     /gene="Nphp1"
                     /inference="alignment:Splign:2.1.0"
     exon            569..670
                     /gene="Nphp1"
                     /inference="alignment:Splign:2.1.0"
     exon            671..804
                     /gene="Nphp1"
                     /inference="alignment:Splign:2.1.0"
     exon            805..847
                     /gene="Nphp1"
                     /inference="alignment:Splign:2.1.0"
     exon            848..935
                     /gene="Nphp1"
                     /inference="alignment:Splign:2.1.0"
     exon            936..1033
                     /gene="Nphp1"
                     /inference="alignment:Splign:2.1.0"
     exon            1034..1162
                     /gene="Nphp1"
                     /inference="alignment:Splign:2.1.0"
     exon            1163..1237
                     /gene="Nphp1"
                     /inference="alignment:Splign:2.1.0"
     exon            1238..1348
                     /gene="Nphp1"
                     /inference="alignment:Splign:2.1.0"
     exon            1349..1431
                     /gene="Nphp1"
                     /inference="alignment:Splign:2.1.0"
     exon            1432..1508
                     /gene="Nphp1"
                     /inference="alignment:Splign:2.1.0"
     exon            1509..1608
                     /gene="Nphp1"
                     /inference="alignment:Splign:2.1.0"
     exon            1609..1721
                     /gene="Nphp1"
                     /inference="alignment:Splign:2.1.0"
     exon            1722..1795
                     /gene="Nphp1"
                     /inference="alignment:Splign:2.1.0"
     exon            1796..1840
                     /gene="Nphp1"
                     /inference="alignment:Splign:2.1.0"
     exon            1841..2297
                     /gene="Nphp1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2278..2283
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Nphp1"
                     /note="hexamer: AATAAA"
     polyA_site      2295
                     /gene="Nphp1"
                     /note="major polyA site"
ORIGIN      
        1 gacaaccggc gcggtcccgc cggcggcggc taggccgatg ctcgcccggc ggccgcggga
       61 cccgctgcag gcgctgaggc gccgcgggca ggagctgaag ctgcaggttg atagtttggt
      121 gactgaaagc caactaacag gtgctctgga accgagtaaa aggagagaga tttaccaaag
      181 atgtatccag ttaaaacagg cagtagatga aaataaaaac acccttcaaa aattaaacaa
      241 agctgatgaa gctgcacctg tggggaacta tgagcagagg aaggaggagg aacacagcct
      301 tctggagaag ctagcctgcc agctgcagga gcttgccgtg agcatcagca ggaaagacgc
      361 tctcaaagtt gaggcacaca gtgacaagga ggaagatgac acgactgaag atgatgaaga
      421 agaaactggt ggagaggaag aagagtcaga aggggatgga gaaggaaagc aagagcaagc
      481 ctccccgaaa caagcagaaa cagaaactgt cacatacatc gctcttgggg acttcgctgc
      541 tcagcagact ggggacttga cctttaagaa aggggacgtt ctccatataa ttgaaaagaa
      601 gcctgatggt tggtggctgg ctaaggatgc tgaaggagtt gagggtctca ttcccaggac
      661 ctacttggag ccctataata aagaagacaa gctggagtca agcgaaggca gcgaggaggg
      721 cggtgaggag gacggtgagg aggacggtga ggaggacgtg gaggtggtgg atgaaactgc
      781 agatggagcc caggtgaagc agagaactga ttcccactgg agtgctgtac gaaaagctat
      841 ctcagagcag ataaataccg ttgatgtgtt agccacaatg ggagccattc ctgcaggatt
      901 ccggccttcc acgctctccc agctgctgga tgaagcaggg aaccagtttc gagcaagtta
      961 cttcttgcag ccagagctca cgacatcgca gctggccttc agagatctaa catgggatgc
     1021 taaggcaggc acgatcatgt cgagaccaag tcgtgtttca ttgattctga ccctatggag
     1081 ctgtaaaatg atccctctcc caggaacaag catacaggtt ctcagcagac acatccgcct
     1141 ctgcctgttt gacggcagca aggtcctgag taatatccat acagttcgag ccgtgtggca
     1201 gcctaagaag ccaaaaacat ggaccttctc tcctcaggtc actggcatct tgccatgctt
     1261 gctcgatggt gactgtttta tcaggtccaa ttcttcaact ccagaccttg ggatattatt
     1321 tgaacttgga atttcttaca ttcgcaattc aactggtgag agaggagagt taagctgtgg
     1381 ctgggtgttt cttaagcttt tcgatgccag tggagttcct attccagcaa aaacatacga
     1441 actcttcttg aatggcggca ctccttacga aaaaggtgtt gaagtggacc cttcagtgtc
     1501 cagaagagca cagggcagtg ttttccgtca gatgataagt gtgcgcaggc agcctcaact
     1561 tctggtgaaa cttcggtctc tgaacaggag gtccagggcc atgctcagtc tgctgccaga
     1621 aaccctggtg gggagtatgt gctctgctca cttactgata ttttaccgac aaattcttgg
     1681 agatgtgctc ctgagagaca ggacaaacct gcaaagtgcc gatttaatca gtcatcccgt
     1741 gctggccacc ttccctctgc tcctggagca gcccgacgtg atggatgctc tcaggagttc
     1801 ctggtctgag aaagaaagta cactaaagcg agcagagaag agagacaaag agctcctaaa
     1861 ggctgagttc ctcctggtct accatgactg cgtgctccct cttctgcact cgacactgct
     1921 gccccccttt aggtgggccg aggaagagac agaggctgca agatggaaag ccattgctga
     1981 cttcctcaag cagagccggg agaacgaggg ttccctgaag gctctgctgt caccagatgg
     2041 agttcacaaa ccatttgacc tttcggagca gacctttgac ttcttgggtg aaataagaaa
     2101 gaactcaggc taatggcgac catgctccga ttcccactgg acccagggag cttccaggaa
     2161 gacttgcctc aaacaactga gccaaagaca gactggttag aacgtagtca tatgcttttg
     2221 tgtgcaaata atattttcaa agaactaata ataatttgat tgagtgtaaa acaataaaat
     2281 aaattttata aggaacaaaa aaa
//
