LOCUS       NM_148961                571 bp    mRNA    linear   PRI 06-JUN-2024
DEFINITION  Homo sapiens otospiralin (OTOS), mRNA.
ACCESSION   NM_148961
VERSION     NM_148961.4
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 571)
  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   2  (bases 1 to 571)
  AUTHORS   Spracklen,T.F., Whitehorn,H., Vorster,A.A., Ramma,L., Dalvie,S. and
            Ramesar,R.S.
  TITLE     Genetic variation in Otos is associated with cisplatin-induced
            ototoxicity
  JOURNAL   Pharmacogenomics 15 (13), 1667-1676 (2014)
   PUBMED   25410892
  REMARK    GeneRIF: study indicates a potentially protective role for the
            variant G alleles of SNPs rs77124181 and rs2291767 in Otos against
            the development of cisplatin-induced ototoxicity
REFERENCE   3  (bases 1 to 571)
  AUTHORS   Lavigne-Rebillard,M., Delprat,B., Surget,M.O., Griffoin,J.M.,
            Weil,D., Arbones,M., Vincent,R. and Hamel,C.P.
  TITLE     Gene structure, chromosomal localization, and mutation screening of
            the human gene for the inner ear protein otospiralin
  JOURNAL   Neurogenetics 4 (3), 137-140 (2003)
   PUBMED   12687421
  REMARK    GeneRIF: OTOSP spans 1630 nucleotides, has 4 exons & encodes a
            567-base cDNA. OTOSP is on chromosome 2 at position q37.3. Beside
            intronic polymorphisms, a rare variant (Pro7Leu) was found in
            deafness patients & controls, excluding it as a genetic deafness
            gene.
REFERENCE   4  (bases 1 to 571)
  AUTHORS   Delprat,B., Boulanger,A., Wang,J., Beaudoin,V., Guitton,M.J.,
            Venteo,S., Dechesne,C.J., Pujol,R., Lavigne-Rebillard,M., Puel,J.L.
            and Hamel,C.P.
  TITLE     Downregulation of otospiralin, a novel inner ear protein, causes
            hair cell degeneration and deafness
  JOURNAL   J Neurosci 22 (5), 1718-1725 (2002)
   PUBMED   11880501
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC013469.8, BX118794.1 and AI201810.1.
            
            On Nov 22, 2018 this sequence version replaced NM_148961.3.
            
            Summary: Otospiralin is synthesized by nonsensory cells
            (fibrocytes) of the inner ear, and downregulation of otospiralin in
            guinea pigs leads to deafness (Lavigne-Rebillard et al., 2003
            [PubMed 12687421]).[supplied by OMIM, Mar 2008].
            
            ##Evidence-Data-START##
            Transcript exon combination :: DRR138516.324905.1, BX118794.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2144120, SAMEA2145240
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            CDS uses downstream in-frame AUG :: downstream AUG is associated
                                                with N-terminal localization
                                                signal
            MANE Ensembl match               :: ENST00000319460.2/
                                                ENSP00000322486.1
            RefSeq Select criteria           :: based on conservation,
                                                expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-2                 AC013469.8         2620-2621
            3-263               BX118794.1         77-337
            264-568             AI201810.1         3-307               c
            569-571             AC013469.8         4250-4252
FEATURES             Location/Qualifiers
     source          1..571
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q37.3"
     gene            1..571
                     /gene="OTOS"
                     /gene_synonym="OTOSP"
                     /note="otospiralin"
                     /db_xref="GeneID:150677"
                     /db_xref="HGNC:HGNC:22644"
                     /db_xref="MIM:607877"
     exon            1..39
                     /gene="OTOS"
                     /gene_synonym="OTOSP"
                     /inference="alignment:Splign:2.1.0"
     exon            40..215
                     /gene="OTOS"
                     /gene_synonym="OTOSP"
                     /inference="alignment:Splign:2.1.0"
     CDS             158..427
                     /gene="OTOS"
                     /gene_synonym="OTOSP"
                     /codon_start=1
                     /product="otospiralin precursor"
                     /protein_id="NP_683764.1"
                     /db_xref="CCDS:CCDS2533.1"
                     /db_xref="GeneID:150677"
                     /db_xref="HGNC:HGNC:22644"
                     /db_xref="MIM:607877"
                     /translation="MQACMVPGLALCLLLGPLAGAKPVQEEGDPYAELPAMPYWPFST
                     SDFWNYVQHFQALGAYPQIEDMARTFFAHFPLGSTLGFHVPYQED"
     exon            216..242
                     /gene="OTOS"
                     /gene_synonym="OTOSP"
                     /inference="alignment:Splign:2.1.0"
     exon            243..571
                     /gene="OTOS"
                     /gene_synonym="OTOSP"
                     /inference="alignment:Splign:2.1.0"
     regulatory      545..550
                     /regulatory_class="polyA_signal_sequence"
                     /gene="OTOS"
                     /gene_synonym="OTOSP"
                     /note="hexamer: AATAAA"
     polyA_site      571
                     /gene="OTOS"
                     /gene_synonym="OTOSP"
                     /note="major polyA site"
ORIGIN      
        1 agcccatcca ggcagcacgg ctggctgagc agagacaagg gctgcccaca ctgggactgg
       61 tagaggaagc cggccctgac ggatgggtgg tctcgccctt cctgggttca tcctgctgca
      121 ggtgggcctg agtcgcagat caggaagcac cgggaagatg caggcctgca tggtgccggg
      181 gctggccctc tgcctcctac tggggcctct tgcaggggcc aagcctgtgc aggaggaagg
      241 agacccttac gcggagctgc cggccatgcc ctactggcct ttctccacct ctgacttctg
      301 gaactatgtg cagcacttcc aggccctggg ggcctacccc cagatcgagg acatggcccg
      361 aaccttcttt gcccacttcc ccctggggag cacgctgggc ttccacgttc cctatcagga
      421 ggactgaatg gtgtccagcc tggtgcccgc ccaccccgcc aggctgcact cggtcgggcc
      481 tccacaggca tggagtcccc gcaaaaacct ggcccctgca ggagtcaggc ctggtctcac
      541 gctcaataaa ctccggactg aagatgcaca a
//
