LOCUS       NP_001342668            1425 aa            linear   ROD 05-JUN-2024
DEFINITION  nephrocystin-4 [Mus musculus].
ACCESSION   NP_001342668 XP_006538935
VERSION     NP_001342668.1
DBSOURCE    REFSEQ: accession NM_001355739.1
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  (residues 1 to 1425)
  AUTHORS   Niborski,L.L., Paces-Fessy,M., Ricci,P., Bourgeois,A.,
            Magalhaes,P., Kuzma-Kuzniarska,M., Lesaulnier,C., Reczko,M.,
            Declercq,E., Zurbig,P., Doucet,A., Umbhauer,M. and Cereghini,S.
  TITLE     Hnf1b haploinsufficiency differentially affects developmental
            target genes in a new renal cysts and diabetes mouse model
  JOURNAL   Dis Model Mech 14 (5) (2021)
   PUBMED   33737325
REFERENCE   2  (residues 1 to 1425)
  AUTHORS   Collin,G.B., Gogna,N., Chang,B., Damkham,N., Pinkney,J., Hyde,L.F.,
            Stone,L., Naggert,J.K., Nishina,P.M. and Krebs,M.P.
  TITLE     Mouse Models of Inherited Retinal Degeneration with Photoreceptor
            Cell Loss
  JOURNAL   Cells 9 (4), 931 (2020)
   PUBMED   32290105
  REMARK    Review article
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 1425)
  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   4  (residues 1 to 1425)
  AUTHORS   Agbu,S.O., Liang,Y., Liu,A. and Anderson,K.V.
  TITLE     The small GTPase RSG1 controls a final step in primary cilia
            initiation
  JOURNAL   J Cell Biol 217 (1), 413-427 (2018)
   PUBMED   29038301
REFERENCE   5  (residues 1 to 1425)
  AUTHORS   Rao,K.N., Zhang,W., Li,L., Ronquillo,C., Baehr,W. and Khanna,H.
  TITLE     Ciliopathy-associated protein CEP290 modifies the severity of
            retinal degeneration due to loss of RPGR
  JOURNAL   Hum Mol Genet 25 (10), 2005-2012 (2016)
   PUBMED   26936822
REFERENCE   6  (residues 1 to 1425)
  AUTHORS   Mollet,G., Silbermann,F., Delous,M., Salomon,R., Antignac,C. and
            Saunier,S.
  TITLE     Characterization of the nephrocystin/nephrocystin-4 complex and
            subcellular localization of nephrocystin-4 to primary cilia and
            centrosomes
  JOURNAL   Hum Mol Genet 14 (5), 645-656 (2005)
   PUBMED   15661758
REFERENCE   7  (residues 1 to 1425)
  AUTHORS   Nishimura,M., Yokoi,N., Miki,T., Horikawa,Y., Yoshioka,H.,
            Takeda,J., Ohara,O. and Seino,S.
  TITLE     Construction of a multi-functional cDNA library specific for mouse
            pancreatic islets and its application to microarray
  JOURNAL   DNA Res 11 (5), 315-323 (2004)
   PUBMED   15747579
REFERENCE   8  (residues 1 to 1425)
  AUTHORS   Okazaki,N., F-Kikuno,R., Ohara,R., Inamoto,S., Koseki,H.,
            Hiraoka,S., Saga,Y., Seino,S., Nishimura,M., Kaisho,T., Hoshino,K.,
            Kitamura,H., Nagase,T., Ohara,O. and Koga,H.
  TITLE     Prediction of the coding sequences of mouse homologues of KIAA
            gene: IV. The complete nucleotide sequences of 500 mouse
            KIAA-homologous cDNAs identified by screening of terminal sequences
            of cDNA clones randomly sampled from size-fractionated libraries
  JOURNAL   DNA Res 11 (3), 205-218 (2004)
   PUBMED   15368895
REFERENCE   9  (residues 1 to 1425)
  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
  REMARK    GeneRIF: Recessive mutations in the NPHP4 gene, encoding the
            protein nephroretinin, in humans cause nephronophthisis type 4 and
            Senior-Loken. There is evolutionary conservation of the NPHP4 gene,
            with an orhtolog in C. elegans.
REFERENCE   10 (residues 1 to 1425)
  AUTHORS   Mollet,G., Salomon,R., Gribouval,O., Silbermann,F., Bacq,D.,
            Landthaler,G., Milford,D., Nayir,A., Rizzoni,G., Antignac,C. and
            Saunier,S.
  TITLE     The gene mutated in juvenile nephronophthisis type 4 encodes a
            novel protein that interacts with nephrocystin
  JOURNAL   Nat Genet 32 (2), 300-305 (2002)
   PUBMED   12244321
  REMARK    Erratum:[Nat Genet 2002 Nov;32(3):459]
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            CJ108378.1, AK038879.1, CO430221.1, CV783895.1, AF537131.1 and
            BP753185.1.
            
            On Sep 26, 2017 this sequence version replaced XP_006538935.1.
            
            Transcript Variant: This variant (3) differs in the 5' UTR compared
            to variant 1. Variants 1-3 encode the same protein.
            
            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 :: SRR1660815.101731.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN00849374, SAMN00849379
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..1425
                     /organism="Mus musculus"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="4"
                     /map="4 83.14 cM"
     Protein         1..1425
                     /product="nephrocystin-4"
                     /note="nephroretinin"
                     /calculated_mol_wt=157138
     Region          55..1417
                     /region_name="NPHP4"
                     /note="Nephrocystin-4; cd22239"
                     /db_xref="CDD:412072"
     Site            145
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:O75161; propagated from
                     UniProtKB/Swiss-Prot (P59240.2)"
     Region          <447..629
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     Region          448..554
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P59240.2)"
     Region          822..1425
                     /region_name="Sufficient for basal bodies localization.
                     /evidence=ECO:0000250|UniProtKB:O75161"
                     /note="propagated from UniProtKB/Swiss-Prot (P59240.2)"
     CDS             1..1425
                     /gene="Nphp4"
                     /gene_synonym="4930564O18Rik; nmf192"
                     /coded_by="NM_001355739.1:229..4506"
                     /db_xref="CCDS:CCDS38985.1"
                     /db_xref="GeneID:260305"
                     /db_xref="MGI:MGI:2384210"
ORIGIN      
        1 mgdwhraftq ntlvpphpqr arqlgkesta fqcilkwldg plikqgildm lselechlrv
       61 tlfdvtykhf fgrtwkttvk ptnqpskqpp ritfneplyf httlshpsiv avvevvtegr
      121 krdgtlqlls cgfgilrifg nkpesptsaa qdkrlrlyhg tprallhpll qdpieqnkfm
      181 rlmencslqy tlkphpplep afhllpenll vsgfqqipgl lpphgdtgda lrkprfqkpt
      241 twhlddlfft lypslekfee elvqllisdr egvglldsgt levlerrlhv cvhnglgfvq
      301 rpqvvvlvpe mdvaltrsas fsrkisassk nssgnqalvl rshlrlpemv shpafaivfq
      361 leyvfnspsg adggasspts issvacmhmv rwavwnpdle vgpgkvtlpl qggvqqnpsr
      421 clvykvpsas msseevkqve sgtiqfqfsl ssdgptehan gprvgrrssr kmpaspsgtp
      481 apaardlaat qdspvgpgls lsqltaspls palqssskpp lqppdssqsp egpqlqaesv
      541 lesrvshlea dlsqpaslqg tpavehlqel pftplhapiv vgaqtrssrs qlsraamvll
      601 qssgfpeild asqqpveavn pidpvrfnpq keesdclrgn eivlqflafs raaqdcpgtp
      661 wpqtvyftfq fyrfppettp rlqlvkldgt gksgsgslsh ilvpinkdgs fdagspglql
      721 rymvdpgflk pgeqrwfahy laaqtlqvdv wdgdslllig sagvqmkhll rqgrpavqvs
      781 helevvatey eqemmavsgd vagfgsvkpi gvhtvvkgrl hltlanvgha ceprargsnl
      841 lppsrsrvis ndgasffsgg sllipggpkr krvvqaqrla dvdselaaml lthtragqgp
      901 qaagqeadav hkrklermrl vrlqeaggds dsrrisllaq hsvraqhsrd lqvidayrer
      961 tkaesiagvl sqaitthhtl yatlgtaeff efalknphnt qhtvaieids pelsiildsq
     1021 ewryfkeatg lhtpleedmf hlrgslapql ylrpretahi plkfqsfsvg plaptqapae
     1081 vitekdaesg plwkcsampt khakvlfrve tgqliavlcl tvepqphvvd qvfrfyhpel
     1141 tflkkairlp pwhtlpgapv gmpgedppvh vrcsdpnvic eaqnvgpgep rdvflkvasg
     1201 pspeikdffv viyadrwlav pvqtwqvclh slqrvdvscv agqltrlslv lrgtqtvrkv
     1261 raftshpqel ktdpagvfvl pphgvqdlhv gvrprragsr fvhlnlvdid yhqlvaswlv
     1321 clscrqplis kafeitmaag dekgtnkrit ytnpypsrrt yrlhsdrpel lrfkedsfqv
     1381 aggetytigl rflpsgsagq eeiliyindh edkneetfcv kvlyq
//
