LOCUS       NM_145309               2129 bp    mRNA    linear   PRI 07-DEC-2024
DEFINITION  Homo sapiens leucine rich repeat containing 51 (LRRC51), transcript
            variant 2, mRNA.
ACCESSION   NM_145309
VERSION     NM_145309.6
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 2129)
  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 2129)
  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 2129)
  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 2129)
  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 2129)
  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 2129)
  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 2129)
  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 2129)
  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 2129)
  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 2129)
  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 DA151871.1 and BC012855.1.
            
            On Nov 30, 2019 this sequence version replaced NM_145309.5.
            
            Summary: This gene belongs to the leucine-rich repeat containing
            family. The encoded protein contains a transmembrane domain and two
            leucine-rich repeat domains. Unlike in mouse and other mammals,
            readthrough transcription is observed in primates between this gene
            and the adjacent transmembrane O-methyltransferase (Tomt) gene.
            Previously, this locus was annotated as a single gene representing
            the readthrough transcripts as well as the two different transcript
            species that encoded different proteins. It has since been split
            into three genes, including the two stand-alone genes and a third
            gene representing the readthrough transcription. [provided by
            RefSeq, Feb 2022].
            
            ##Evidence-Data-START##
            Transcript exon combination :: EU627066.1, BC012855.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000289488.8/ ENSP00000289488.2
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-36                DA151871.1         520-555
            37-2129             BC012855.1         28-2120
FEATURES             Location/Qualifiers
     source          1..2129
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q13.4"
     gene            1..2129
                     /gene="LRRC51"
                     /note="leucine rich repeat containing 51"
                     /db_xref="GeneID:120356739"
                     /db_xref="HGNC:HGNC:55526"
     exon            1..36
                     /gene="LRRC51"
                     /inference="alignment:Splign:2.1.0"
     exon            37..120
                     /gene="LRRC51"
                     /inference="alignment:Splign:2.1.0"
     exon            121..257
                     /gene="LRRC51"
                     /inference="alignment:Splign:2.1.0"
     CDS             176..754
                     /gene="LRRC51"
                     /EC_number="2.1.1.6"
                     /note="isoform LRTOMT1a is encoded by transcript variant
                     2; leucine-rich repeat-containing protein 51"
                     /codon_start=1
                     /product="leucine-rich repeat-containing protein 51
                     isoform LRTOMT1a"
                     /protein_id="NP_660352.1"
                     /db_xref="CCDS:CCDS8208.1"
                     /db_xref="GeneID:120356739"
                     /db_xref="HGNC:HGNC:55526"
                     /translation="MNKRDYMNTSVQEPPLDYSFRSIHVIQDLVNEEPRTGLRPLKRS
                     KSGKSLTQSLWLNNNVLNDLRDFNQVASQLLEHPENLAWIDLSFNDLTSIDPVLTTFF
                     NLSVLYLHGNSIQRLGEVNKLAVLPRLRSLTLHGNPMEEEKGYRQYVLCTLSRITTFD
                     FSGVTKADRTTAEVWKRMNIKPKKAWTKQNTL"
     exon            258..463
                     /gene="LRRC51"
                     /inference="alignment:Splign:2.1.0"
     exon            464..612
                     /gene="LRRC51"
                     /inference="alignment:Splign:2.1.0"
     exon            613..2129
                     /gene="LRRC51"
                     /inference="alignment:Splign:2.1.0"
     regulatory      810..815
                     /regulatory_class="polyA_signal_sequence"
                     /gene="LRRC51"
                     /note="hexamer: AATAAA"
     polyA_site      831
                     /gene="LRRC51"
     regulatory      1043..1048
                     /regulatory_class="polyA_signal_sequence"
                     /gene="LRRC51"
                     /note="hexamer: ATTAAA"
     polyA_site      1073
                     /gene="LRRC51"
                     /note="major polyA site"
     regulatory      2104..2109
                     /regulatory_class="polyA_signal_sequence"
                     /gene="LRRC51"
                     /note="hexamer: GATAAA"
     polyA_site      2129
                     /gene="LRRC51"
                     /note="major polyA site"
ORIGIN      
        1 agtgggacgc caagactgga gaggaagcga ctgcggggag tatttccatt ttaaccggaa
       61 acaatccctg aacccacagg aatgaatgcc taatggtgga gtttcagcca tcagtgacag
      121 gctgaaccca gactcccagg gcacctgctt gcacctttga atgatggcct gaactatgaa
      181 caaacgggac tatatgaaca cttcggtaca ggagccccct cttgactact ccttcagaag
      241 catccacgtc attcaagatc tggtaaatga ggagccaagg acaggactac gaccactgaa
      301 gcgttcaaag tcggggaaat cactgaccca gtccctgtgg ctgaataaca atgttctcaa
      361 tgatctgaga gacttcaacc aggtggcttc acagctgttg gagcacccag agaacctggc
      421 ctggatcgac ctgtccttta atgacctgac ttccattgac cctgtcctaa caactttctt
      481 caacctgagt gtcctctatc ttcacggcaa cagcatccag cgcctggggg aggtgaataa
      541 gctggctgtc cttcctcggc tccgtagcct gacactccat gggaacccca tggaggaaga
      601 gaaagggtat aggcaatatg tgctgtgcac cctgtcccgt atcaccacgt tcgacttcag
      661 tggggtcacc aaagcagacc gcaccacagc tgaagtctgg aaacgcatga acatcaagcc
      721 caagaaggcc tggaccaagc agaatacact ttgaggctcc cacgacccta gtagtcctaa
      781 aggcctaagc atagacagca tggtttgaca ataaataatt tgagctgttg agcagatgag
      841 aagtcactta caccttgtag agatgttctc taactcaggc aactgcaagt agctctagcc
      901 ttttcttttc tttttttttt ttttgagacg gagtctcact ctgtcacaca ggctggagtg
      961 cagtggcacg atcttggctc actgcaacct cagcctccca ggttcaagag attctcctgc
     1021 ctcagcctcc ccagtagctg tgattaaagg cgcctgccac catgactggc taattttgtt
     1081 gttgttgttg ttgttttgag acggtttcac tcgtcacccc agctggagtg cagtggtgcg
     1141 atctcagctc actgcaacct ccgcctgctg ggttcaagcg attctcctgc ctcagcctcc
     1201 tgagtagctg ggattacagg cgcctgctac cacatccagc taattttttt ttttgagacg
     1261 gagtctcgct ctgtcaccca ggctggagtg cagtggcacg atctcggctc actgcaaact
     1321 ccgccttcca ggttcacgcc attctcctgc ctcagcctcc caagtagctg ggactatagg
     1381 cacctactac cacgcctggc taattttttg tatttttagt agagacgggg tttcaccatg
     1441 ttagccagga tggtctccat ctcctgacct tgtgatccac ccacctcggc ttcccccagc
     1501 taatttttta tattttagta gagacaaggt ttcgccatgt tggccaggct ggtcttgaac
     1561 tcctgacctc aggtgatccg tctgctttgg cctcccaaag tgctgggatt agaagcgtga
     1621 gccaccacgc ccagcctttt tttgtatttt tagtagagat ggggtttcgc catgttggcc
     1681 aggctggtct caaactcctg acctcaggtg atctgcccac ctcagcctcc caaagtgcta
     1741 ggattacagg ataagccact gcacctggcc agctctagtc ttattttgct gaaaaaggga
     1801 ggcaattgag ggaaaggcct gctggcctgg gacactggag acgtgggttt accacacagc
     1861 cttgggaaat ttatctaact ctctgggccc ctttgtactt ttcagcttag agatttgggg
     1921 gttaaagtag atcagtaatt tccaaactct tcacagagta ccagggtctg tagagatgcc
     1981 tcacaggcct ccatgacagg ccaagaagat ggcctatgat ctctgaaacc agcccccact
     2041 tcaatcagat caaagtaatt ccattctgtt ttatatgctg ggattctgct taagatttca
     2101 tttgataaaa agaatcttct gcttaaaaa
//
