LOCUS       NM_001393500            1476 bp    mRNA    linear   PRI 13-DEC-2024
DEFINITION  Homo sapiens transmembrane O-methyltransferase (TOMT), mRNA.
ACCESSION   NM_001393500
VERSION     NM_001393500.2
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 1476)
  AUTHORS   Sarmadi,A., Nasrniya,S., Soleimani Farsani,M., Narrei,S., Nouri,Z.,
            Sepehrnejad,M., Nilforoush,M.H., Abtahi,H. and Tabatabaiefar,M.A.
  TITLE     A novel pathogenic variant in the LRTOMT gene causes autosomal
            recessive non-syndromic hearing loss in an Iranian family
  JOURNAL   BMC Med Genet 21 (1), 127 (2020)
   PUBMED   32517708
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1476)
  AUTHORS   Ichinose,A., Moteki,H., Hattori,M., Nishio,S.Y. and Usami,S.
  TITLE     Novel mutations in LRTOMT associated with moderate progressive
            hearing loss in autosomal recessive inheritance
  JOURNAL   Ann Otol Rhinol Laryngol 124 Suppl 1, 142S-147S (2015)
   PUBMED   25788562
REFERENCE   3  (bases 1 to 1476)
  AUTHORS   Charif,M., Bounaceur,S., Abidi,O., Nahili,H., Rouba,H., Kandil,M.,
            Boulouiz,R. and Barakat,A.
  TITLE     The c.242G>A mutation in LRTOMT gene is responsible for a high
            prevalence of deafness in the Moroccan population
  JOURNAL   Mol Biol Rep 39 (12), 11011-11016 (2012)
   PUBMED   23053991
REFERENCE   4  (bases 1 to 1476)
  AUTHORS   Vanwesemael,M., Schrauwen,I., Ceuppens,R., Alasti,F., Jorssen,E.,
            Farrokhi,E., Chaleshtori,M.H. and Van Camp,G.
  TITLE     A 1 bp deletion in the dual reading frame deafness gene LRTOMT
            causes a frameshift from the first into the second reading frame
  JOURNAL   Am J Med Genet A 155A (8), 2021-2023 (2011)
   PUBMED   21739586
REFERENCE   5  (bases 1 to 1476)
  AUTHORS   Ahmed,Z.M., Masmoudi,S., Kalay,E., Belyantseva,I.A., Mosrati,M.A.,
            Collin,R.W., Riazuddin,S., Hmani-Aifa,M., Venselaar,H., Kawar,M.N.,
            Tlili,A., van der Zwaag,B., Khan,S.Y., Ayadi,L., Riazuddin,S.A.,
            Morell,R.J., Griffith,A.J., Charfedine,I., Caylan,R., Oostrik,J.,
            Karaguzel,A., Ghorbel,A., Riazuddin,S., Friedman,T.B., Ayadi,H. and
            Kremer,H.
  TITLE     Mutations of LRTOMT, a fusion gene with alternative reading frames,
            cause nonsyndromic deafness in humans
  JOURNAL   Nat Genet 40 (11), 1335-1340 (2008)
   PUBMED   18953341
REFERENCE   6  (bases 1 to 1476)
  AUTHORS   Du,X., Schwander,M., Moresco,E.M., Viviani,P., Haller,C.,
            Hildebrand,M.S., Pak,K., Tarantino,L., Roberts,A., Richardson,H.,
            Koob,G., Najmabadi,H., Ryan,A.F., Smith,R.J., Muller,U. and
            Beutler,B.
  TITLE     A catechol-O-methyltransferase that is essential for auditory
            function in mice and humans
  JOURNAL   Proc Natl Acad Sci U S A 105 (38), 14609-14614 (2008)
   PUBMED   18794526
REFERENCE   7  (bases 1 to 1476)
  AUTHORS   Kalay,E., Caylan,R., Kiroglu,A.F., Yasar,T., Collin,R.W.,
            Heister,J.G., Oostrik,J., Cremers,C.W., Brunner,H.G., Karaguzel,A.
            and Kremer,H.
  TITLE     A novel locus for autosomal recessive nonsyndromic hearing
            impairment, DFNB63, maps to chromosome 11q13.2-q13.4
  JOURNAL   J Mol Med (Berl) 85 (4), 397-404 (2007)
   PUBMED   17211611
REFERENCE   8  (bases 1 to 1476)
  AUTHORS   Tlili,A., Masmoudi,S., Dhouib,H., Bouaziz,S., Rebeh,I.B.,
            Chouchen,J., Turki,K., Benzina,Z., Charfedine,I., Drira,M. and
            Ayadi,H.
  TITLE     Localization of a novel autosomal recessive non-syndromic hearing
            impairment locus DFNB63 to chromosome 11q13.3-q13.4
  JOURNAL   Ann Hum Genet 71 (Pt 2), 271-275 (2007)
   PUBMED   17166180
REFERENCE   9  (bases 1 to 1476)
  AUTHORS   Khan,S.Y., Riazuddin,S., Tariq,M., Anwar,S., Shabbir,M.I.,
            Riazuddin,S.A., Khan,S.N., Husnain,T., Ahmed,Z.M., Friedman,T.B.
            and Riazuddin,S.
  TITLE     Autosomal recessive nonsyndromic deafness locus DFNB63 at
            chromosome 11q13.2-q13.3
  JOURNAL   Hum Genet 120 (6), 789-793 (2007)
   PUBMED   17066295
REFERENCE   10 (bases 1 to 1476)
  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
            AP000812.4.
            
            On Oct 28, 2021 this sequence version replaced NM_001393500.1.
            
            Summary: This gene encodes a catechol-O-methyltransferase that
            catalyzes the transfer of a methyl group from
            S-adenosyl-L-methionine to a hydroxyl group of catechols and is
            essential for auditory and vestibular function. Mutations in this
            gene have been associated with nonsyndromic deafness. Readthrough
            transcription is observed across this gene and the adjacent
            leucine-rich repeat containing 51 gene. A third locus
            (GeneID:220074) is defined to represent the readthrough
            transcripts. [provided by RefSeq, Feb 2021].
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038197.580689.1,
                                           SRR14372080.3144005.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2142680
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000541899.3/ ENSP00000494667.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-287               AP000812.4         12810-13096
            288-484             AP000812.4         14809-15005
            485-1476            AP000812.4         15491-16482
FEATURES             Location/Qualifiers
     source          1..1476
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q13.4"
     gene            1..1476
                     /gene="TOMT"
                     /gene_synonym="COMT2"
                     /note="transmembrane O-methyltransferase"
                     /db_xref="GeneID:120356740"
                     /db_xref="HGNC:HGNC:55527"
     exon            1..287
                     /gene="TOMT"
                     /gene_synonym="COMT2"
                     /inference="alignment:Splign:2.1.0"
     CDS             29..805
                     /gene="TOMT"
                     /gene_synonym="COMT2"
                     /EC_number="2.1.1.6"
                     /codon_start=1
                     /product="transmembrane O-methyltransferase"
                     /protein_id="NP_001380429.1"
                     /db_xref="CCDS:CCDS91529.1"
                     /db_xref="GeneID:120356740"
                     /db_xref="HGNC:HGNC:55527"
                     /translation="MSPAIALAFLPLVVTLLVRYRHYFRLLVRTVLLRSLRDCLSGLR
                     IEERAFSYVLTHALPGDPGHILTTLDHWSSRCEYLSHMGPVKGQILMRLVEEKAPACV
                     LELGTYCGYSTLLIARALPPGGRLLTVERDPRTAAVAEKLIRLAGFDEHMVELIVGSS
                     EDVIPCLRTQYQLSRADLVLLAHRPRCYLRDLQLLEAHALLPAGATVLADHVLFPGAP
                     RFLQYAKSCGRYRCRLHHTGLPDFPAIKDGIAQLTYAGPG"
     exon            288..484
                     /gene="TOMT"
                     /gene_synonym="COMT2"
                     /inference="alignment:Splign:2.1.0"
     exon            485..1476
                     /gene="TOMT"
                     /gene_synonym="COMT2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1455..1460
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TOMT"
                     /gene_synonym="COMT2"
                     /note="hexamer: AATAGA"
     polyA_site      1476
                     /gene="TOMT"
                     /gene_synonym="COMT2"
                     /note="major polyA site"
ORIGIN      
        1 cctccacccc agggcccagg tagggaccat gtcccctgcc attgcattgg ccttcctgcc
       61 actggtggta acattgctgg tgcggtaccg gcactacttc cgattgctgg tgcgcacggt
      121 cttgctgcga agcctccgag actgcctgtc agggctgcgg atcgaggagc gggccttcag
      181 ctacgtgctc acccatgccc tgcccggtga ccctggtcac atcctcacca ccctggacca
      241 ctggagcagc cgctgcgagt acttgagcca catggggcct gtcaaaggtc agatcctgat
      301 gcggctggtg gaggagaagg cccctgcttg tgtgctggaa ttgggaacct actgtggata
      361 ctctaccctg cttattgccc gagccctgcc ccctgggggt cgccttctta ctgtggagcg
      421 ggacccacgc acggcagcag tggctgaaaa actcatccgc ctggccggct ttgatgagca
      481 catggtggag ctcatcgtgg gcagctcaga ggacgtgatc ccgtgcctac gcacccagta
      541 tcagctgagt cgggcagacc tggtgctcct ggcacaccgg ccacgatgtt acctgaggga
      601 cctgcagctg ctggaggccc atgccctact gccagcaggt gccaccgtgc tggctgacca
      661 tgtgctcttc cctggtgcac cccgcttctt gcagtatgct aagagctgtg gccgctaccg
      721 ctgccgcctc caccacactg gccttccaga cttccctgcc atcaaggatg gaatagctca
      781 gctcacctat gctggaccag gctgaggtcc aggcccaggg gtacttactg atgcccaccc
      841 ccacccccac ccaagcaggg acctcaaaat cccctccctt tcctgtttgg ggccttgaca
      901 cacgctgggc tcagggctag ggagtctctc ttcccacctc tgacctcttt cagcctctac
      961 actgacctca agtgtcaagt tctatcaggc tgcttggtct cactaggccc cctctttcca
     1021 gagagaacca tggactgaca gcaagaagcc tgagctcccg acccagctct gtcactgatt
     1081 tgctgagtga ctccaaggga atccccacct tgctctgaga tttaatcttc tctcttaaca
     1141 cgaaggaagc tggatgggag agctccaggg gcctcccagt tctcggcctc agaaagcctc
     1201 ccatcctcag cccatgccat tctgggtggg atcagaggaa gtggcaatga gttagacgcc
     1261 ctgcaggaat agctggatgc aagctgggcc agagaaaatg gcacagaacc ctggacccag
     1321 ggccagggat gccctggcct tccctaactc tggcccacct agccaattag gtgtggctga
     1381 tgtcccttga gtgccctctt cctaaagccc aaaagaagat gctggactcc tctgggcccc
     1441 accaacaaat agggaataga catgggtgga aaatca
//
