LOCUS       NM_001128228            2659 bp    mRNA    linear   PRI 09-FEB-2025
DEFINITION  Homo sapiens taperin (TPRN), mRNA.
ACCESSION   NM_001128228 XM_003403829
VERSION     NM_001128228.3
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  (bases 1 to 2659)
  AUTHORS   Qi,J., Tan,F., Zhang,L., Zhou,Y., Zhang,Z., Sun,Q., Li,N., Fang,Y.,
            Chen,X., Wu,Y., Zhong,G. and Chai,R.
  TITLE     Critical role of TPRN rings in the stereocilia for hearing
  JOURNAL   Mol Ther 32 (1), 204-217 (2024)
   PUBMED   37952086
  REMARK    GeneRIF: Critical role of TPRN rings in the stereocilia for
            hearing.
            Erratum:[Mol Ther. 2025 Jan 8;33(1):419-420. doi:
            10.1016/j.ymthe.2024.12.004.. PMID: 39672160]
REFERENCE   2  (bases 1 to 2659)
  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   3  (bases 1 to 2659)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (bases 1 to 2659)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Paulo,J.A., Cannon,J.R., Ting,L.,
            Baltier,K., Colby,G., Gebreab,F., Gygi,M.P., Parzen,H., Szpyt,J.,
            Tam,S., Zarraga,G., Pontano-Vaites,L., Swarup,S., White,A.E.,
            Schweppe,D.K., Rad,R., Erickson,B.K., Obar,R.A., Guruharsha,K.G.,
            Li,K., Artavanis-Tsakonas,S., Gygi,S.P. and Harper,J.W.
  TITLE     Architecture of the human interactome defines protein communities
            and disease networks
  JOURNAL   Nature 545 (7655), 505-509 (2017)
   PUBMED   28514442
REFERENCE   5  (bases 1 to 2659)
  AUTHORS   Ferrar,T., Chamousset,D., De Wever,V., Nimick,M., Andersen,J.,
            Trinkle-Mulcahy,L. and Moorhead,G.B.
  TITLE     Taperin (c9orf75), a mutated gene in nonsyndromic deafness, encodes
            a vertebrate specific, nuclear localized protein phosphatase one
            alpha (PP1alpha) docking protein
  JOURNAL   Biol Open 1 (2), 128-139 (2012)
   PUBMED   23213405
REFERENCE   6  (bases 1 to 2659)
  AUTHORS   Esteves,S.L., Domingues,S.C., da Cruz e Silva,O.A., Fardilha,M. and
            da Cruz e Silva,E.F.
  TITLE     Protein phosphatase 1alpha interacting proteins in the human brain
  JOURNAL   OMICS 16 (1-2), 3-17 (2012)
   PUBMED   22321011
REFERENCE   7  (bases 1 to 2659)
  AUTHORS   Rehman,A.U., Morell,R.J., Belyantseva,I.A., Khan,S.Y., Boger,E.T.,
            Shahzad,M., Ahmed,Z.M., Riazuddin,S., Khan,S.N., Riazuddin,S. and
            Friedman,T.B.
  TITLE     Targeted capture and next-generation sequencing identifies C9orf75,
            encoding taperin, as the mutated gene in nonsyndromic deafness
            DFNB79
  JOURNAL   Am J Hum Genet 86 (3), 378-388 (2010)
   PUBMED   20170899
  REMARK    GeneRIF: Targeted capture and next-generation sequencing identifies
            C9orf75, encoding taperin, as the mutated gene in nonsyndromic
            deafness DFNB79
REFERENCE   8  (bases 1 to 2659)
  AUTHORS   Li,Y., Pohl,E., Boulouiz,R., Schraders,M., Nurnberg,G., Charif,M.,
            Admiraal,R.J., von Ameln,S., Baessmann,I., Kandil,M., Veltman,J.A.,
            Nurnberg,P., Kubisch,C., Barakat,A., Kremer,H. and Wollnik,B.
  TITLE     Mutations in TPRN cause a progressive form of autosomal-recessive
            nonsyndromic hearing loss
  JOURNAL   Am J Hum Genet 86 (3), 479-484 (2010)
   PUBMED   20170898
  REMARK    GeneRIF: genome-wide homozygosity mapping in a Moroccan family;
            mapped autosomal-recessive nonsyndromic hearing loss to DFNB79
            locus on chromosome 9q34; identified a causative homozygous 11 bp
            deletion, c.42_52del, in TPRN gene in affected individuals
REFERENCE   9  (bases 1 to 2659)
  AUTHORS   Khan,S.Y., Riazuddin,S., Shahzad,M., Ahmed,N., Zafar,A.U.,
            Rehman,A.U., Morell,R.J., Griffith,A.J., Ahmed,Z.M., Riazuddin,S.
            and Friedman,T.B.
  TITLE     DFNB79: reincarnation of a nonsyndromic deafness locus on
            chromosome 9q34.3
  JOURNAL   Eur J Hum Genet 18 (1), 125-129 (2010)
   PUBMED   19603065
REFERENCE   10 (bases 1 to 2659)
  AUTHORS   Shearer,A.E., Hildebrand,M.S., Odell,A.M. and Smith,R.J.H.
  TITLE     Genetic Hearing Loss Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301607
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL929554.20 and BC098411.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_001128228.2.
            
            Summary: This locus encodes a sensory epithelial protein. It was
            defined by linkage analysis in three Pakistani families to lie
            between D9S1818 (centromeric) and D9SH6 (telomeric). Mutations at
            this locus have been associated with autosomal recessive deafness.
            [provided by RefSeq, Oct 2010].
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data because no single transcript was available
            for the full length of the gene. The extent of this transcript is
            supported by mouse NM_175286.4 and supporting mouse transcripts.
            
            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 :: BC111500.1, BC098411.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000409012.6/ ENSP00000387100.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-592               AL929554.20        113413-114004       c
            593-2659            BC098411.1         1-2067
FEATURES             Location/Qualifiers
     source          1..2659
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q34.3"
     gene            1..2659
                     /gene="TPRN"
                     /gene_synonym="C9orf75; DFNB79"
                     /note="taperin"
                     /db_xref="GeneID:286262"
                     /db_xref="HGNC:HGNC:26894"
                     /db_xref="MIM:613354"
     exon            1..1755
                     /gene="TPRN"
                     /gene_synonym="C9orf75; DFNB79"
                     /inference="alignment:Splign:2.1.0"
     CDS             31..2166
                     /gene="TPRN"
                     /gene_synonym="C9orf75; DFNB79"
                     /codon_start=1
                     /product="taperin"
                     /protein_id="NP_001121700.2"
                     /db_xref="CCDS:CCDS56594.1"
                     /db_xref="GeneID:286262"
                     /db_xref="HGNC:HGNC:26894"
                     /db_xref="MIM:613354"
                     /translation="MAALGRPGSGPRAAVPAWKREILERKRAKLAALGGGAGPGAAEP
                     EQRVLAESLGPLRENPFMLLEAERRRGGGAAGARLLERYRRVPGVRALRADSVLIIET
                     VPGFPPAPPAPGAAQIRAAEVLVYGAPPGRVSRLLERFDPPAAPRRRGSPERARPPPP
                     PPPPAPPRPPPAAPSPPAAPGPRGGGASPGARRSDFLQKTGSNSFTVHPRGLHRGAGA
                     RLLSNGHSAPEPRAGPANRLAGSPPGSGQWKPKVESGDPSLHPPPSPGTPSATPASPP
                     ASATPSQRQCVSAATSTNDSFEIRPAPKPVMETIPLGDLQARALASLRANSRNSFMVI
                     PKSKASGAPPPEGRQSVELPKGDLGPASPSQELGSQPVPGGDGAPALGKSPLEVEAQW
                     AVEEGACPRTATALADRAIRWQRPSSPPPFLPAASEEAEPAEGLRVPGLAKNSREYVR
                     PGLPVTFIDEVDSEEAPQAAKLPYLPHPARPLHPARPGCVAELQPRGSNTFTVVPKRK
                     PGTLQDQHFSQANREPRPREAEEEEASCLLGPTLKKRYPTVHEIEVIGGYLALQKSCL
                     TKAGSSRKKMKISFNDKSLQTTFEYPSESSLEQEEEVDQQEEEEEEEEEEEEEEEGSG
                     SEEKPFALFLPRATFVSSVRPESSRLPEGSSGLSSYTPKHSVAFSKWQEQALEQAPRE
                     AEPPPVEAMLTPASQNDLSDFRSEPALYF"
     exon            1756..1996
                     /gene="TPRN"
                     /gene_synonym="C9orf75; DFNB79"
                     /inference="alignment:Splign:2.1.0"
     exon            1997..2103
                     /gene="TPRN"
                     /gene_synonym="C9orf75; DFNB79"
                     /inference="alignment:Splign:2.1.0"
     exon            2104..2659
                     /gene="TPRN"
                     /gene_synonym="C9orf75; DFNB79"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2639..2644
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TPRN"
                     /gene_synonym="C9orf75; DFNB79"
                     /note="hexamer: AATAAA"
     polyA_site      2659
                     /gene="TPRN"
                     /gene_synonym="C9orf75; DFNB79"
                     /note="major polyA site"
ORIGIN      
        1 agtccagccg tccgctgccg cgttcgcagc atggccgccc tggggcggcc gggctcgggg
       61 ccgcgcgctg cggtgcccgc ttggaagcgt gagatcctgg agcggaagcg ggccaagcta
      121 gccgcgctgg gcgggggcgc ggggcccggg gcggcggagc ccgagcagcg ggtgctggcc
      181 gagagcctgg gcccgctgcg cgagaacccg ttcatgctgc tggaggccga gcggcggcgc
      241 ggcgggggcg cggcgggggc gcggctgctg gagcggtacc gccgcgtgcc tggcgtgcgc
      301 gccctccgcg ccgacagcgt cctcatcatc gagacggtgc ccggcttccc gcccgcgccg
      361 cccgccccgg gggccgcgca gatccgcgcc gccgaggtgc tggtgtacgg ggcgccgccc
      421 ggccgcgtca gccgcctact ggagaggttc gacccgcccg ccgcgccgcg ccgccgcggg
      481 agccccgagc gcgcccgccc cccgccgccg ccgccgccgc ccgcgccgcc ccggcccccg
      541 cccgcggccc ccagcccgcc cgccgcgccc gggccccgcg gtggcggggc gagccccggg
      601 gcccggcgca gcgacttcct ccagaagacc ggcagcaact ccttcaccgt ccacccccgg
      661 ggtctgcacc gcggcgcggg cgcccgcctg ctctccaacg ggcactcggc ccctgagccc
      721 cgggccggcc ctgccaaccg cctcgcgggc tccccgcctg ggtcgggaca gtggaagcca
      781 aaggtggagt cgggggatcc ctccctccac ccgcccccca gccccgggac cccgagtgcc
      841 actccagcct caccccctgc cagtgccact cctagccagc gccagtgcgt ctccgcagcc
      901 accagcacca acgactcctt cgagatacgg ccggccccca agccagttat ggagaccatc
      961 cccttggggg acctccaggc ccgggcgctg gccagcctcc gcgcaaactc tcgaaattct
     1021 ttcatggtca tccccaagag caaggcctcc ggggctcctc ctcctgaggg gaggcagtcc
     1081 gtggagctgc caaagggaga cctgggcccg gcctccccga gccaggagct cggatcccag
     1141 ccggtgcctg gaggggatgg tgcgcctgcc ctcgggaaga gccccctgga ggtcgaggca
     1201 cagtgggcag tcgaggaggg ggcctgtccc aggacagcca ccgccctcgc tgaccgggct
     1261 attaggtggc agaggccgtc ctcaccgccc cccttcctgc cggctgcttc ggaagaagct
     1321 gagcctgctg agggcctcag ggttcctggc ttggccaaga atagccggga atatgtgagg
     1381 ccggggctgc ctgtcacctt catcgatgag gtagactcgg aggaggcccc ccaagcagcc
     1441 aaactaccct acctcccgca ccctgccagg cctctgcacc ctgccaggcc cgggtgcgtg
     1501 gcagagcttc agccccgggg cagcaacacc ttcacagtgg tgcccaagag gaagccaggg
     1561 actctgcagg accagcactt cagtcaggcc aacagggagc ctcggccacg ggaggccgag
     1621 gaggaggagg ctagttgcct cctggggccc acgttgaaga agcgctaccc caccgtgcat
     1681 gagatcgagg tgattggcgg ctacctggcc ctgcagaagt cctgcctcac caaggctggc
     1741 tcctcaagaa agaagatgaa gatctccttc aacgacaaaa gcctgcagac cacatttgag
     1801 tacccttccg agagctccct agagcaggag gaagaggtgg accagcagga ggaggaggag
     1861 gaggaggagg aggaagagga agaggaggaa gagggatccg gctcagagga gaagcccttt
     1921 gcactcttcc tgccccgggc cacgtttgtg agcagcgtga gacccgagag ctctcggctg
     1981 ccagagggta gctcaggcct gtccagctac accccgaagc actctgtggc cttcagcaag
     2041 tggcaggagc aggcgctgga gcaggccccg agggaggcag agcccccgcc cgtggaggcc
     2101 atgctcacac ccgccagtca gaatgacctc tcggacttcc gcagcgagcc agccctgtat
     2161 ttctgagccc agcactgcca ggaccaaggc tgagcccagc tgtgggagtc ccggaagctg
     2221 ggcagtagcc agggactact gcacccgctt ctgccttgtt tggcctcact gtatcccacc
     2281 cacccctcct ggccctggaa gcagctaggg tgcctcctgc catcggggcc aggtctgggt
     2341 ctcactcccc ggccctgatt tgggagggtc caagggggaa gtggggtggg gaactgcctg
     2401 tgggtgagtg ccaggggcct gctgggtggt ggccatctgc gacccggcag ggggctgtgc
     2461 agattctgca cctggccatt ccctgtcctg tctcctcagc ctgcctcaca gtggccatgg
     2521 ggtgtcgggg tgaagggctg tcccagctac ttgtcctctg caggacccta agcccctgcc
     2581 cgcagcccac atgccctctg tgatgagtgg cgtctttcct gcctctgatg atggactcaa
     2641 taaacagcac tggacaagg
//
