LOCUS       NP_055917               1426 aa            linear   PRI 07-FEB-2025
DEFINITION  nephrocystin-4 isoform a [Homo sapiens].
ACCESSION   NP_055917
VERSION     NP_055917.1
DBSOURCE    REFSEQ: accession NM_015102.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1426)
  AUTHORS   Ali,A., Unar,A., Muhammad,Z., Dil,S., Zhang,B., Sadaf,H., Khan,M.,
            Ali,M., Khan,R., Shah,K.M.B., Ma,A., Jiang,X., Zhang,Y., Zhang,H.
            and Shi,Q.
  TITLE     A novel NPHP4 homozygous missense variant identified in infertile
            brothers with multiple morphological abnormalities of the sperm
            flagella
  JOURNAL   J Assist Reprod Genet 41 (1), 109-120 (2024)
   PUBMED   37831349
  REMARK    GeneRIF: A novel NPHP4 homozygous missense variant identified in
            infertile brothers with multiple morphological abnormalities of the
            sperm flagella.
REFERENCE   2  (residues 1 to 1426)
  AUTHORS   Otaki,Y., Watanabe,T., Sato,J., Kobayashi,Y., Aono,T., Saito,Y.,
            Goto,J., Takahashi,H., Arimoto,T., Sato,H., Konta,T., Ueno,Y. and
            Watanabe,M.
  TITLE     Association of Nephronophthisis 4 genetic variation with
            cardiorenal syndrome and cardiovascular events in Japanese general
            population: the Yamagata (Takahata) study
  JOURNAL   Heart Vessels 37 (4), 673-682 (2022)
   PUBMED   34591160
  REMARK    GeneRIF: Association of Nephronophthisis 4 genetic variation with
            cardiorenal syndrome and cardiovascular events in Japanese general
            population: the Yamagata (Takahata) study.
REFERENCE   3  (residues 1 to 1426)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   4  (residues 1 to 1426)
  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   5  (residues 1 to 1426)
  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: Encodes a novel protein, nephroretinin, that is conserved
            in evolution--for example, in the nematode Caenorhabditis elegans.
            GeneRIF: Recessive mutations in the NPHP4 gene, encoding the
            protein nephroretinin, in humans cause nephronophthisis type 4 and
            Senior-Loken syndrome.There is evolutionary conservation of the
            NPHP4 gene, with an ortholog in C. elegans.
REFERENCE   6  (residues 1 to 1426)
  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    GeneRIF: Interacts with NPHP1 protein, suggesting that these two
            proteins participate in a common signaling pathway; identification
            of five different mutations in unrelated individuals with
            nephronophthisis
            Erratum:[Nat Genet 2002 Nov;32(3):459]
REFERENCE   7  (residues 1 to 1426)
  AUTHORS   Donaldson,J.C., Dise,R.S., Ritchie,M.D. and Hanks,S.K.
  TITLE     Nephrocystin-conserved domains involved in targeting to epithelial
            cell-cell junctions, interaction with filamins, and establishing
            cell polarity
  JOURNAL   J Biol Chem 277 (32), 29028-29035 (2002)
   PUBMED   12006559
REFERENCE   8  (residues 1 to 1426)
  AUTHORS   Schuermann,M.J., Otto,E., Becker,A., Saar,K., Ruschendorf,F.,
            Polak,B.C., Ala-Mello,S., Hoefele,J., Wiedensohler,A., Haller,M.,
            Omran,H., Nurnberg,P. and Hildebrandt,F.
  TITLE     Mapping of gene loci for nephronophthisis type 4 and Senior-Loken
            syndrome, to chromosome 1p36
  JOURNAL   Am J Hum Genet 70 (5), 1240-1246 (2002)
   PUBMED   11920287
REFERENCE   9  (residues 1 to 1426)
  AUTHORS   Stokman,M., Lilien,M. and Knoers,N.
  TITLE     Nephronophthisis-Related Ciliopathies
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   27336129
REFERENCE   10 (residues 1 to 1426)
  AUTHORS   Gunay-Aygun,M., Gahl,W.A. and Heller,T.
  TITLE     Congenital Hepatic Fibrosis Overview horizontal line RETIRED
            CHAPTER, FOR HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301743
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AF537130.1, AK314326.1,
            BU738621.1 and R40620.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            Summary: This gene encodes a protein involved in renal tubular
            development and function. This protein interacts with nephrocystin,
            and belongs to a multifunctional complex that is localized to
            actin- and microtubule-based structures. Mutations in this gene are
            associated with nephronophthisis type 4, a renal disease, and with
            Senior-Loken syndrome type 4, a combination of nephronophthisis and
            retinitis pigmentosa. Alternative splicing results in multiple
            transcript variants. [provided by RefSeq, Apr 2014].
            
            Transcript Variant: This variant (1) 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 :: AF537130.1, AY118228.1 [ECO:0000332]
            RNAseq introns              :: mixed/partial sample support
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000350]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000378156.9/ ENSP00000367398.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..1426
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p36.31"
     Protein         1..1426
                     /product="nephrocystin-4 isoform a"
                     /note="POC10 centriolar protein homolog; nephroretinin"
                     /calculated_mol_wt=157468
     Region          55..1418
                     /region_name="NPHP4"
                     /note="Nephrocystin-4; cd22239"
                     /db_xref="CDD:412072"
     Site            142
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O75161.2)"
     Region          450..536
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O75161.2)"
     Region          823..1426
                     /region_name="Sufficient for basal bodies localization.
                     /evidence=ECO:0000269|PubMed:26644512"
                     /note="propagated from UniProtKB/Swiss-Prot (O75161.2)"
     Region          896..935
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O75161.2)"
     CDS             1..1426
                     /gene="NPHP4"
                     /gene_synonym="POC10; SLSN4"
                     /coded_by="NM_015102.5:221..4501"
                     /note="isoform a is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS44052.1"
                     /db_xref="GeneID:261734"
                     /db_xref="HGNC:HGNC:19104"
                     /db_xref="MIM:607215"
ORIGIN      
        1 mndwhriftq nvlvpphpqr arqpwkesta fqcvlkwldg pvirqgvlev lsevechlrv
       61 sffdvtyrhf fgrtwkttvk ptkrppsriv fneplyfhts lnhphivavv evvaegkkrd
      121 gslqtlscgf gilrifsnqp dspisasqdk rlrlyhgtpr allhpllqdp aeqnrhmtli
      181 encslqytlk phpalepafh llpenllvsg lqqipgllpa hgesgdalrk prlqkpitgh
      241 lddlfftlyp slekfeeell elhvqdhfqe gcgpldggal eilerrlrvg vhnglgfvqr
      301 pqvvvlvpem dvaltrsasf srkvvssskt ssgsqalvlr srlrlpemvg hpafavifql
      361 eyvfsspagv dgnaasvtsl snlacmhmvr wavwnpllea dsgrvtlplq ggiqpnpshc
      421 lvykvpsasm sseevkqves gtlrfqfslg seehldapte pvsgpkverr psrkpptsps
      481 sppapvprvl aapqnspvgp glsisqlaas prsptqhcla rptsqlphgs qaspaqaqef
      541 pleagishle adlsqtslvl etsiaeqlqe lpftplhapi vvgtqtrssa gqpsrasmvl
      601 lqssgfpeil dankqpaeav satepvtfnp qkeesdclqs nemvlqflaf srvaqdcrgt
      661 swpktvyftf qfyrfppatt prlqlvqlde agqpssgalt hilvpvsrdg tfdagspgfq
      721 lrymvgpgfl kpgerrcfar ylavqtlqid vwdgdsllli gsaavqmkhl lrqgrpavqa
      781 shelevvate yeqdnmvvsg dmlgfgrvkp igvhsvvkgr lhltlanvgh pceqkvrgcs
      841 tlppsrsrvi sndgasrfsg gsllttgssr rkhvvqaqkl advdselaam lltharqgkg
      901 pqdvsresda trrrklermr svrlqeaggd lgrrgtsvla qqsvrtqhlr dlqviaayre
      961 rtkaesiasl lslaitteht lhatlgvaef fefvlknphn tqhtvtveid npelsvivds
     1021 qewrdfkgaa glhtpveedm fhlrgslapq lylrphetah vpfkfqsfsa gqlamvqasp
     1081 glsnekgmda vspwkssavp tkhakvlfra sggkpiavlc ltvelqphvv dqvfrfyhpe
     1141 lsflkkairl ppwhtfpgap vgmlgedppv hvrcsdpnvi cetqnvgpge prdiflkvas
     1201 gpspeikdff viiysdrwla tptqtwqvyl hslqrvdvsc vagqltrlsl vlrgtqtvrk
     1261 vraftshpqe lktdpkgvfv lpprgvqdlh vgvrplrags rfvhlnlvdv dchqlvaswl
     1321 vclccrqpli skafeimlaa gegkgvnkri tytnpypsrr tfhlhsdhpe llrfredsfq
     1381 vgggetytig lqfapsqrvg eeeiliyind hedkneeafc vkviyq
//
