LOCUS       NM_001080711            1217 bp    mRNA    linear   ROD 30-APR-2024
DEFINITION  Mus musculus pejvakin (Pjvk), mRNA.
ACCESSION   NM_001080711 XM_001002946 XM_001002955 XM_001003976 XM_355340
            XM_912827 XM_986722
VERSION     NM_001080711.2
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 1217)
  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 1217)
  AUTHORS   Lu,Y.C., Tsai,Y.H., Chan,Y.H., Hu,C.J., Huang,C.Y., Xiao,R.,
            Hsu,C.J., Vandenberghe,L.H., Wu,C.C. and Cheng,Y.F.
  TITLE     Gene therapy with a synthetic adeno-associated viral vector
            improves audiovestibular phenotypes in Pjvk-mutant mice
  JOURNAL   JCI Insight 7 (20), e152941 (2022)
   PUBMED   36278489
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1217)
  AUTHORS   Cheng,Y.F., Tsai,Y.H., Huang,C.Y., Lee,Y.S., Chang,P.C., Lu,Y.C.,
            Hsu,C.J. and Wu,C.C.
  TITLE     Generation and pathological characterization of a transgenic mouse
            model carrying a missense PJVK mutation
  JOURNAL   Biochem Biophys Res Commun 532 (4), 675-681 (2020)
   PUBMED   32917362
REFERENCE   4  (bases 1 to 1217)
  AUTHORS   Defourny,J., Aghaie,A., Perfettini,I., Avan,P., Delmaghani,S. and
            Petit,C.
  TITLE     Pejvakin-mediated pexophagy protects auditory hair cells against
            noise-induced damage
  JOURNAL   Proc Natl Acad Sci U S A 116 (16), 8010-8017 (2019)
   PUBMED   30936319
  REMARK    GeneRIF: Studied role of pejvakin in preventing noise induced
            hearing loss by protecting auditory hair cells through mediating
            pexophagy, which plays a key role in noise-induced peroxisome
            proliferation; results suggest pejvakin acts as a redox-activated
            pexophagy receptor.
REFERENCE   5  (bases 1 to 1217)
  AUTHORS   Kazmierczak,M., Kazmierczak,P., Peng,A.W., Harris,S.L., Shah,P.,
            Puel,J.L., Lenoir,M., Franco,S.J. and Schwander,M.
  TITLE     Pejvakin, a Candidate Stereociliary Rootlet Protein, Regulates Hair
            Cell Function in a Cell-Autonomous Manner
  JOURNAL   J Neurosci 37 (13), 3447-3464 (2017)
   PUBMED   28209736
REFERENCE   6  (bases 1 to 1217)
  AUTHORS   Harris,S.L., Kazmierczak,M., Pangrsic,T., Shah,P., Chuchvara,N.,
            Barrantes-Freer,A., Moser,T. and Schwander,M.
  TITLE     Conditional deletion of pejvakin in adult outer hair cells causes
            progressive hearing loss in mice
  JOURNAL   Neuroscience 344, 380-393 (2017)
   PUBMED   28089576
  REMARK    GeneRIF: Results demonstrate that pejvakin is required to sustain
            outer hair cell activity and survival in a cell-autonomous manner
            and imply pejvakin defects in sensory hearing loss rather than
            auditory neuropathy spectrum disorder; show that pejvakin forms
            protein complexes with Rho effectors, including ROCK2.
REFERENCE   7  (bases 1 to 1217)
  AUTHORS   Delmaghani,S., Defourny,J., Aghaie,A., Beurg,M., Dulon,D.,
            Thelen,N., Perfettini,I., Zelles,T., Aller,M., Meyer,A., Emptoz,A.,
            Giraudet,F., Leibovici,M., Dartevelle,S., Soubigou,G., Thiry,M.,
            Vizi,E.S., Safieddine,S., Hardelin,J.P., Avan,P. and Petit,C.
  TITLE     Hypervulnerability to Sound Exposure through Impaired Adaptive
            Proliferation of Peroxisomes
  JOURNAL   Cell 163 (4), 894-906 (2015)
   PUBMED   26544938
  REMARK    GeneRIF: Study describes a genetic form of noise-induced hearing
            loss , by showing that pejvakin deficiency in mice and DFNB59
            patients leads to hypervulnerability to sound, due to a peroxisomal
            deficiency.
REFERENCE   8  (bases 1 to 1217)
  AUTHORS   Xiong,W., Grillet,N., Elledge,H.M., Wagner,T.F., Zhao,B.,
            Johnson,K.R., Kazmierczak,P. and Muller,U.
  TITLE     TMHS is an integral component of the mechanotransduction machinery
            of cochlear hair cells
  JOURNAL   Cell 151 (6), 1283-1295 (2012)
   PUBMED   23217710
REFERENCE   9  (bases 1 to 1217)
  AUTHORS   Schwander,M., Sczaniecka,A., Grillet,N., Bailey,J.S., Avenarius,M.,
            Najmabadi,H., Steffy,B.M., Federe,G.C., Lagler,E.A., Banan,R.,
            Hice,R., Grabowski-Boase,L., Keithley,E.M., Ryan,A.F.,
            Housley,G.D., Wiltshire,T., Smith,R.J., Tarantino,L.M. and
            Muller,U.
  TITLE     A forward genetics screen in mice identifies recessive deafness
            traits and reveals that pejvakin is essential for outer hair cell
            function
  JOURNAL   J Neurosci 27 (9), 2163-2175 (2007)
   PUBMED   17329413
  REMARK    GeneRIF: The pejvakin allele described here introduces a premature
            stop codon, causes outer hair cell defects, and leads to
            progressive hearing loss.
REFERENCE   10 (bases 1 to 1217)
  AUTHORS   Delmaghani,S., del Castillo,F.J., Michel,V., Leibovici,M.,
            Aghaie,A., Ron,U., Van Laer,L., Ben-Tal,N., Van Camp,G., Weil,D.,
            Langa,F., Lathrop,M., Avan,P. and Petit,C.
  TITLE     Mutations in the gene encoding pejvakin, a newly identified protein
            of the afferent auditory pathway, cause DFNB59 auditory neuropathy
  JOURNAL   Nat Genet 38 (7), 770-778 (2006)
   PUBMED   16804542
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DQ365828.1 and BX635497.1.
            
            On Feb 12, 2013 this sequence version replaced NM_001080711.1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: DQ365828.1, SRR11927937.642560.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN00849385, SAMN01164137
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1208              DQ365828.1         1-1208
            1209-1217           BX635497.1         4-12                c
FEATURES             Location/Qualifiers
     source          1..1217
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="2"
                     /map="2 45.08 cM"
     gene            1..1217
                     /gene="Pjvk"
                     /gene_synonym="Dfnb59; Gm1001"
                     /note="pejvakin"
                     /db_xref="GeneID:381375"
                     /db_xref="MGI:MGI:2685847"
     exon            1..360
                     /gene="Pjvk"
                     /gene_synonym="Dfnb59; Gm1001"
                     /inference="alignment:Splign:2.1.0"
     exon            361..556
                     /gene="Pjvk"
                     /gene_synonym="Dfnb59; Gm1001"
                     /inference="alignment:Splign:2.1.0"
     exon            557..698
                     /gene="Pjvk"
                     /gene_synonym="Dfnb59; Gm1001"
                     /inference="alignment:Splign:2.1.0"
     exon            699..816
                     /gene="Pjvk"
                     /gene_synonym="Dfnb59; Gm1001"
                     /inference="alignment:Splign:2.1.0"
     exon            817..915
                     /gene="Pjvk"
                     /gene_synonym="Dfnb59; Gm1001"
                     /inference="alignment:Splign:2.1.0"
     exon            916..1217
                     /gene="Pjvk"
                     /gene_synonym="Dfnb59; Gm1001"
                     /inference="alignment:Splign:2.1.0"
ORIGIN      
        1 agcaaactac ttggtgagcg tgggctttat agttctaacc tgcgtaactg tatttaacat
       61 caaggaaggc ttagtttggt gtctgattct cttcttcaaa aatgggttcg ttgcctgagg
      121 gtcgcagttg atgacatctt gatattaata tgtttgctgc tgctaccaag agcttcgtta
      181 agcaagttgg agatggaggg agattagtcc ctgtcccaag cctcagcgaa gctgacaagt
      241 accaacccct gagtctggtg gtgaaaaaga agcggtgttt tctgtttcct agatgcaaat
      301 tcacatccac tcctttcaca cttaaagata ttctcctggg agatcgagaa atttcagctg
      361 gaatttcatc ttatcagtta ctgaattatg aagatgagtc agatgtttcc ctctatggaa
      421 ggcgaagcaa ccatattgtg aatgacgtgg ggattaatgt cactggatct gattccatcg
      481 cagtcaaagc ttcatttggt gtcgtgacca aacatgaggt ggaagtttcg acattactca
      541 aggagattac tgcacgaaaa attaactttg accacagttt gatccgccaa tcaaggagca
      601 gcaggaaggc ggtgctgtgc gtggtcatgg agagcatccg aaccacacgc cagtgctctc
      661 tgtcagtgca cgctgggatt cgtggggaag ccatgcggtt tcattttatg gatgaacaga
      721 atcccaaggg aagggaaaag gctattgttt tcccagcaca cacaactata gctttcagtg
      781 tttttgagct cttcatctac ctggacggtg ccttcgacat ttgtgtcaca tctgtgtcaa
      841 aaggaggatt tgaaagggaa gaaacgacaa cctttgccat gttctacaga ctgagaaata
      901 tactcttcga aagaaacagg agagtgatgg acgccatctc tcgttcccag ctttacctgg
      961 acgacctctt ttctgacttc tacgacaaac ccctcagcat gactgacatt tccctcaagg
     1021 aggggactca catccgagtg aacttactaa accacaacat tcctaaaggg ccctgcatcc
     1081 tctgcggaat ggggaacttg aaaagggaga cggtctacgg ctgcttccag tgttctgtgg
     1141 acggcgtgaa gtacgtgcgt cttcacgcag tcccttgctt tgatatctgg cacaagagaa
     1201 tgaaataaaa ggaagaa
//
