LOCUS       NM_001042702            2301 bp    mRNA    linear   PRI 12-DEC-2024
DEFINITION  Homo sapiens pejvakin (PJVK), transcript variant 1, mRNA.
ACCESSION   NM_001042702
VERSION     NM_001042702.5
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  (bases 1 to 2301)
  AUTHORS   Dominguez-Ruiz,M., Rodriguez-Ballesteros,M., Gandia,M.,
            Gomez-Rosas,E., Villamar,M., Scimemi,P., Mancini,P.,
            Rendtorff,N.D., Moreno-Pelayo,M.A., Tranebjaerg,L., Meda,C.,
            Santarelli,R. and Del Castillo,I.
  TITLE     Novel Pathogenic Variants in PJVK, the Gene Encoding Pejvakin, in
            Subjects with Autosomal Recessive Non-Syndromic Hearing Impairment
            and Auditory Neuropathy Spectrum Disorder
  JOURNAL   Genes (Basel) 13 (1), 149 (2022)
   PUBMED   35052489
  REMARK    GeneRIF: Novel Pathogenic Variants in PJVK, the Gene Encoding
            Pejvakin, in Subjects with Autosomal Recessive Non-Syndromic
            Hearing Impairment and Auditory Neuropathy Spectrum Disorder.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2301)
  AUTHORS   Alimardani,M., Hosseini,S.M., Khaniani,M.S., Haghi,M.R., Eslahi,A.,
            Farjami,M., Chezgi,J., Derakhshan,S.M. and Mojarrad,M.
  TITLE     Targeted Mutation Analysis of the SLC26A4, MYO6, PJVK and CDH23
            Genes in Iranian Patients with AR Nonsyndromic Hearing Loss
  JOURNAL   Fetal Pediatr Pathol 38 (2), 93-102 (2019)
   PUBMED   30582396
  REMARK    GeneRIF: two mutations, one in MYO6 (c.554-1 G > A) gene and
            another in PJVK (c.547C > T) are responsible for 1% each of the
            Iranian ARNSHL patients
REFERENCE   3  (bases 1 to 2301)
  AUTHORS   Salime,S., Charif,M., Bousfiha,A., Elrharchi,S., Bakhchane,A.,
            Charoute,H., Kabine,M., Snoussi,K., Lenaers,G. and Barakat,A.
  TITLE     Homozygous mutations in PJVK and MYO15A genes associated with
            non-syndromic hearing loss in Moroccan families
  JOURNAL   Int J Pediatr Otorhinolaryngol 101, 25-29 (2017)
   PUBMED   28964305
  REMARK    GeneRIF: We identified in Moroccan deaf patients two mutations in
            PJVK and one mutation in MYO15A described for the first time in
            association with non-syndromic recessive hearing loss
REFERENCE   4  (bases 1 to 2301)
  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   5  (bases 1 to 2301)
  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   6  (bases 1 to 2301)
  AUTHORS   Hashemzadeh Chaleshtori,M., Simpson,M.A., Farrokhi,E., Dolati,M.,
            Hoghooghi Rad,L., Amani Geshnigani,S. and Crosby,A.H.
  TITLE     Novel mutations in the pejvakin gene are associated with autosomal
            recessive non-syndromic hearing loss in Iranian families
  JOURNAL   Clin Genet 72 (3), 261-263 (2007)
   PUBMED   17718865
  REMARK    GeneRIF: Mutations in DFNB59 are associated with autosomal
            recessive non-syndromic hearing loss in about 6.7% of GJB2-negative
            families.
REFERENCE   7  (bases 1 to 2301)
  AUTHORS   Collin,R.W., Kalay,E., Oostrik,J., Caylan,R., Wollnik,B.,
            Arslan,S., den Hollander,A.I., Birinci,Y., Lichtner,P., Strom,T.M.,
            Toraman,B., Hoefsloot,L.H., Cremers,C.W., Brunner,H.G.,
            Cremers,F.P., Karaguzel,A. and Kremer,H.
  TITLE     Involvement of DFNB59 mutations in autosomal recessive nonsyndromic
            hearing impairment
  JOURNAL   Hum Mutat 28 (7), 718-723 (2007)
   PUBMED   17373699
  REMARK    GeneRIF: data indicate that nonsense mutations in DFNB59 cause
            nonsyndromic hearing loss, but that mutations in DFNB59 are not a
            major cause of nonsyndromic hearing impairment in the Turkish and
            Dutch population
REFERENCE   8  (bases 1 to 2301)
  AUTHORS   Ebermann,I., Walger,M., Scholl,H.P., Charbel Issa,P., Luke,C.,
            Nurnberg,G., Lang-Roth,R., Becker,C., Nurnberg,P. and Bolz,H.J.
  TITLE     Truncating mutation of the DFNB59 gene causes cochlear hearing
            impairment and central vestibular dysfunction
  JOURNAL   Hum Mutat 28 (6), 571-577 (2007)
   PUBMED   17301963
  REMARK    GeneRIF: We have identified a consanguineous family segregating
            autosomal recessive congenital progressive hearing loss (ARNSHL)
            and retinal degeneration with central vestibular dysfunction having
            homozygosity for a DFNB59 mutation.
REFERENCE   9  (bases 1 to 2301)
  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
  REMARK    GeneRIF: DFNB59, a newly identified gene on chromosome 2q31.1-q31.3
            mutated in four families segregating autosomal recessive auditory
            neuropathy
REFERENCE   10 (bases 1 to 2301)
  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     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC009948.3, DQ365827.1 and
            BC127902.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Sep 17, 2019 this sequence version replaced NM_001042702.4.
            
            Summary: The protein encoded by this gene is a member of the
            gasdermin family, a family which is found only in vertebrates. The
            encoded protein is required for the proper function of auditory
            pathway neurons. Defects in this gene are a cause of non-syndromic
            sensorineural deafness autosomal recessive type 59 (DFNB59).
            [provided by RefSeq, Dec 2008].
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            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 :: DQ365827.1, BC146938.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2145245
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000644580.2/ ENSP00000495855.2
            RefSeq Select criteria :: based on manual assertion, conservation
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-58                AC009948.3         57968-58025
            59-638              DQ365827.1         1-580
            639-1536            BC127902.1         257-1154
            1537-2301           AC009948.3         67928-68692
FEATURES             Location/Qualifiers
     source          1..2301
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q31.2"
     gene            1..2301
                     /gene="PJVK"
                     /gene_synonym="DFNB59"
                     /note="pejvakin"
                     /db_xref="GeneID:494513"
                     /db_xref="HGNC:HGNC:29502"
                     /db_xref="MIM:610219"
     exon            1..392
                     /gene="PJVK"
                     /gene_synonym="DFNB59"
                     /inference="alignment:Splign:2.1.0"
     exon            393..625
                     /gene="PJVK"
                     /gene_synonym="DFNB59"
                     /inference="alignment:Splign:2.1.0"
     CDS             415..1473
                     /gene="PJVK"
                     /gene_synonym="DFNB59"
                     /note="isoform 1 is encoded by transcript variant 1;
                     autosomal recessive deafness type 59 protein"
                     /codon_start=1
                     /product="pejvakin isoform 1"
                     /protein_id="NP_001036167.1"
                     /db_xref="CCDS:CCDS42787.1"
                     /db_xref="GeneID:494513"
                     /db_xref="HGNC:HGNC:29502"
                     /db_xref="MIM:610219"
                     /translation="MFAAATKSFVKQVGDGGRLVPVPSLSEADKYQPLSLVVKKKRCF
                     LFPRYKFTSTPFTLKDILLGDREISAGISSYQLLNYEDESDVSLYGRRGNHIVNDVGI
                     NVAGSDSIAVKASFGIVTKHEVEVSTLLKEITTRKINFDHSLIRQSRSSRKAVLCVVM
                     ESIRTTRQCSLSVHAGIRGEAMRFHFMDEQNPKGRDKAIVFPAHTTIAFSVFELFIYL
                     DGAFDLCVTSVSKGGFEREETATFALLYRLRNILFERNRRVMDVISRSQLYLDDLFSD
                     YYDKPLSMTDISLKEGTHIRVNLLNHNIPKGPCILCGMGNFKRETVYGCFQCSVDGQK
                     YVRLHAVPCFDIWHKRMK"
     exon            626..821
                     /gene="PJVK"
                     /gene_synonym="DFNB59"
                     /inference="alignment:Splign:2.1.0"
     exon            822..963
                     /gene="PJVK"
                     /gene_synonym="DFNB59"
                     /inference="alignment:Splign:2.1.0"
     exon            964..1081
                     /gene="PJVK"
                     /gene_synonym="DFNB59"
                     /inference="alignment:Splign:2.1.0"
     exon            1082..1180
                     /gene="PJVK"
                     /gene_synonym="DFNB59"
                     /inference="alignment:Splign:2.1.0"
     exon            1181..2301
                     /gene="PJVK"
                     /gene_synonym="DFNB59"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1469..1474
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PJVK"
                     /gene_synonym="DFNB59"
                     /note="hexamer: AATAAA"
     polyA_site      1486
                     /gene="PJVK"
                     /gene_synonym="DFNB59"
                     /note="major polyA site"
     regulatory      1564..1569
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PJVK"
                     /gene_synonym="DFNB59"
                     /note="hexamer: ATTAAA"
     polyA_site      1589
                     /gene="PJVK"
                     /gene_synonym="DFNB59"
     regulatory      2280..2285
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PJVK"
                     /gene_synonym="DFNB59"
                     /note="hexamer: ATTAAA"
     polyA_site      2301
                     /gene="PJVK"
                     /gene_synonym="DFNB59"
ORIGIN      
        1 gaccagcctg tagtaactgg cccctaggcc gcagttcttt gtccttagca ggaggccgtt
       61 tcttgccggg agagagggat tagagggatt gtccggcgtg ggtctagggt cgttgaggcc
      121 taaagttaag cctttgtggg gaggacggat tgggggctgg gtcactttaa gaaaaagatt
      181 ctaaaattac gaaggcagaa ttccagggag tctcccgggc ctggtcctga agcttgagac
      241 cccggatata tacgctccag ggggctgcgg tgcgctcttc gggtccccga gccctgtgtt
      301 taggaacacg cggggacgtc caaacacccg ctcctctccc gccgggcggg ctcctttgtc
      361 ttctgggctt tcgtcgcgag atggaacgct ggttgatgac gttttgattt taatatgttt
      421 gctgctgcta ccaagagctt tgtcaagcaa gttggagatg gagggagatt agttcctgtt
      481 ccaagcctca gtgaagctga caaatatcaa cctctaagtc tggtggtaaa aaagaagcga
      541 tgctttctgt ttcctagata taaatttact tcaacacctt ttacactgaa agatattctc
      601 ctaggagaca gagaaatttc agctggtatt tcatcttatc aattactgaa ttatgaagat
      661 gaatcagatg tttcactcta tggaaggcga ggtaaccata ttgtaaatga cgttgggatt
      721 aacgttgctg gatcagattc cattgcagtg aaagcttcat ttggtatagt aaccaaacat
      781 gaagtggaag tatcaacatt actcaaagaa attactacac gaaaaattaa ctttgaccac
      841 agcttgatac gtcagtcaag gagcagcaga aaggcagtat tgtgtgtggt catggagagc
      901 atccgaacca cacgacagtg ctcactgtct gtgcatgctg gaattcgagg ggaagcaatg
      961 cggtttcact ttatggatga acagaatccc aagggaaggg acaaagctat tgttttccca
     1021 gcacatacaa ccatagcttt cagtgttttt gaactcttca tatacctgga tggtgccttt
     1081 gacctttgtg tcacttcagt gtcaaaagga ggatttgaaa gggaagaaac ggcaacattt
     1141 gcactgctgt acaggttgag aaatatccta tttgaaagaa atagaagagt gatggatgtc
     1201 atttctcgtt cacagcttta cttggatgat cttttttctg actactatga caaacctctc
     1261 agcatgactg atatttcact caaagaaggg acccatatcc gagttaactt acttaatcac
     1321 aacattccca aagggccttg catactctgt ggaatgggga acttcaaaag ggagacagtt
     1381 tatgggtgct ttcagtgttc tgttgatggt cagaagtatg tgagacttca tgcagttcct
     1441 tgttttgata tttggcacaa gaggatgaaa taaaatgaaa aatgaataca ccgtgttggt
     1501 gttttaggtg cagttgtgcc acaaaccttc cctaaattat ctaggtttgc tttgatgaat
     1561 taaattaaaa tgagaaaagc aaaaagaaat taacctgtct gggtatcata ttccctatct
     1621 ataaagtagc aattataaca gtagtgtcta tttcttaagt tgtcatgaaa attaataaca
     1681 ttgtttatat caaaaaagat ttacatataa aattcagaga ttatgaatca tgccagtcac
     1741 tttagaatca tttttgggat gtagtctatc attttagttc accttttttt tttttttttt
     1801 tgagacagag ccttgctccg tcacccaggc tggagtacag tggcatgatc tcagctcact
     1861 gcaacctctg cctcctgggt tcaagcaatt ctctgcctca gcctcccgag tagctgggat
     1921 tactggcgcc tgccaccacg cctggctaat tttttgtatt tttagtagag acagagtttt
     1981 accatcttgg ccaggctgat cttgaactcc tgaccttgtg atccactttc ctcggcctcc
     2041 caaagtgctg ggattacagg catgggccac cgtgcctggc ctagataact ttttatataa
     2101 ttaagagatt tttgtaaata ccaattttat tttcaatcaa ctttcagttc aatatgtaag
     2161 gatgacaaga ctgcacaagt agcaactttt ggtgtttcaa ctattgcctt tggtctggta
     2221 aaatgagaaa aatgtgttaa taatttaatg caatcttaaa tgtttaattg cagtatcaaa
     2281 ttaaaagcac actgaactca a
//
