LOCUS       NM_144620               1842 bp    mRNA    linear   PRI 15-FEB-2024
DEFINITION  Homo sapiens leucine rich repeat containing 39 (LRRC39), transcript
            variant 3, mRNA.
ACCESSION   NM_144620
VERSION     NM_144620.4
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 1842)
  AUTHORS   Will,R.D., Eden,M., Just,S., Hansen,A., Eder,A., Frank,D., Kuhn,C.,
            Seeger,T.S., Oehl,U., Wiemann,S., Korn,B., Koegl,M., Rottbauer,W.,
            Eschenhagen,T., Katus,H.A. and Frey,N.
  TITLE     Myomasp/LRRC39, a heart- and muscle-specific protein, is a novel
            component of the sarcomeric M-band and is involved in stretch
            sensing
  JOURNAL   Circ Res 107 (10), 1253-1264 (2010)
   PUBMED   20847312
  REMARK    GeneRIF: Reveal myomasp/LRRC39 as a previously unrecognized
            component of an M-band-associated signaling pathway that regulates
            cardiomyocyte gene expression in response to biomechanical stress.
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BX645870.1, AW961910.1, BC009613.1, DB449006.1 and N70864.1.
            
            On Feb 27, 2020 this sequence version replaced NM_144620.3.
            
            Transcript Variant: This variant (3) uses a different splice site
            in the 5' UTR and lacks an alternate exon in the 3' coding region
            which results in the use of a different stop codon, compared to
            variant 1. The resulting protein (isoform 2) has a distinct and
            shorter C-terminus compared to isoform 1. Variants 2, 3, and 4
            encode the same protein.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC009613.1, AK096892.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000370137.6/ ENSP00000359156.1
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-3                 BX645870.1         24-26
            4-41                AW961910.1         11-48
            42-1433             BC009613.1         1-1392
            1434-1524           DB449006.1         59-149              c
            1525-1842           N70864.1           7-324               c
FEATURES             Location/Qualifiers
     source          1..1842
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p21.2"
     gene            1..1842
                     /gene="LRRC39"
                     /note="leucine rich repeat containing 39"
                     /db_xref="GeneID:127495"
                     /db_xref="HGNC:HGNC:28228"
     exon            1..122
                     /gene="LRRC39"
                     /inference="alignment:Splign:2.1.0"
     exon            123..162
                     /gene="LRRC39"
                     /inference="alignment:Splign:2.1.0"
     exon            163..353
                     /gene="LRRC39"
                     /inference="alignment:Splign:2.1.0"
     CDS             241..1248
                     /gene="LRRC39"
                     /note="isoform 2 is encoded by transcript variant 3;
                     leucine-rich repeat-containing protein 39; densin hlg;
                     myomasp; myosin-interacting M-band-associated
                     stress-responsive protein"
                     /codon_start=1
                     /product="leucine-rich repeat-containing protein 39
                     isoform 2"
                     /protein_id="NP_653221.1"
                     /db_xref="CCDS:CCDS766.1"
                     /db_xref="GeneID:127495"
                     /db_xref="HGNC:HGNC:28228"
                     /translation="MTENVVCTGAVNAVKEVWEKRIKKLNEDLKREKEFQHKLVRIWE
                     ERVSLTKLREKVTREDGRVILKIEKEEWKTLPSSLLKLNQLQEWQLHRTGLLKIPEFI
                     GRFQNLIVLDLSRNTISEIPPGIGLLTRLQELILSYNKIKTVPKELSNCASLEKLELA
                     VNRDICDLPQELSNLLKLTHLDLSMNDFTTIPLAVLNMPALEWLDMGSNKLEQLPDTI
                     ERMQNLHTLWLQRNEITCLPQTISNMKNLGTLVLSNNKLQDIPVCMEEMANLRFVNFR
                     DNPLKLKVSLPPSEGTDEEEERELFGLQFMHTYIQESRRRADHQVNGSTTLPISINTD
                     G"
     exon            354..459
                     /gene="LRRC39"
                     /inference="alignment:Splign:2.1.0"
     exon            460..616
                     /gene="LRRC39"
                     /inference="alignment:Splign:2.1.0"
     exon            617..753
                     /gene="LRRC39"
                     /inference="alignment:Splign:2.1.0"
     exon            754..899
                     /gene="LRRC39"
                     /inference="alignment:Splign:2.1.0"
     exon            900..1052
                     /gene="LRRC39"
                     /inference="alignment:Splign:2.1.0"
     exon            1053..1192
                     /gene="LRRC39"
                     /inference="alignment:Splign:2.1.0"
     exon            1193..1842
                     /gene="LRRC39"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1418..1423
                     /regulatory_class="polyA_signal_sequence"
                     /gene="LRRC39"
                     /note="hexamer: ATTAAA"
     polyA_site      1441
                     /gene="LRRC39"
                     /note="major polyA site"
     regulatory      1674..1679
                     /regulatory_class="polyA_signal_sequence"
                     /gene="LRRC39"
                     /note="hexamer: AATAAA"
     polyA_site      1701
                     /gene="LRRC39"
     regulatory      1715..1720
                     /regulatory_class="polyA_signal_sequence"
                     /gene="LRRC39"
                     /note="hexamer: TATAAA"
     polyA_site      1738
                     /gene="LRRC39"
     regulatory      1821..1826
                     /regulatory_class="polyA_signal_sequence"
                     /gene="LRRC39"
                     /note="hexamer: AATAAA"
     polyA_site      1842
                     /gene="LRRC39"
ORIGIN      
        1 gacattacat ttcacttggt tacagctgac tggggatttt aatcatttgg agccacactg
       61 aaaaaaaaat ttccccctgc aatctactct taactgatag tcgctaactt tggttatgtg
      121 tgtctattca gaatattaca ttaattgatt tctcaaacaa aggtcctttc tgaaatggta
      181 tctatgattc agctattcaa aacctaatga agttggtgac tatgacaatg tggagaaatc
      241 atgacagaaa atgtggtttg tactggggct gtcaatgctg taaaggaagt ttgggaaaaa
      301 agaataaaga aactcaatga agacctgaag cgagagaagg aatttcaaca caagctagtg
      361 cggatctggg aagaacgagt aagcttaacc aagctaagag aaaaggtcac cagggaagat
      421 ggaagagtca ttttgaagat agaaaaagag gaatggaaga ccctcccttc ttctctgctg
      481 aaactgaatc aactacagga atggcaactt catagaactg gtttgctgaa aattcctgaa
      541 ttcattggaa gattccagaa cctcattgtg ttagatttat ctcgaaacac aatttcagag
      601 ataccaccag ggattggact gcttactaga cttcaggaac tgattctcag ctacaacaaa
      661 atcaagactg tccccaagga actaagtaat tgtgccagct tggagaaact agaactggct
      721 gttaacagag atatatgtga tcttccacaa gagctcagca atctgctaaa acttactcac
      781 cttgatctga gtatgaacga ttttactaca atccctcttg ctgtgttgaa catgcctgcc
      841 cttgagtggc tggacatggg aagcaacaaa cttgaacaac ttcctgatac tatagaaaga
      901 atgcaaaatc tacatacgtt atggctgcaa cgaaatgaaa taacatgctt gcctcaaaca
      961 atcagcaata tgaaaaatct gggtactctt gttctcagca acaataaact gcaagatatt
     1021 ccagtatgca tggaagaaat ggcaaatctg aggtttgtca acttcagaga caacccactg
     1081 aaattgaaag tatcacttcc tcccagtgaa ggcacagatg aagaagagga acgggaatta
     1141 tttggccttc agtttatgca cacatacata caagagtcac ggagaagagc agatcaccaa
     1201 gtcaacggtt caactacttt accaatctcc ataaatacgg atggataata taattcaaga
     1261 tgcccttcta aagaggatta ctttggtgaa ttctctaatg tttggatttc tgaagtaaaa
     1321 agaaaagcta ttaccaaagt ttaatgaggc cacagcattt tttaaagttc atattatttg
     1381 ctatttaaag tatatatttt tttgatataa aaatataatt aaaaaatttt ttttggtgga
     1441 agacagatga tgctcaaatt tcttttccat taagcagttg tttctggtga tgaagaatga
     1501 tttggtaaag cagttaacaa aacattttcc aaagacacca gagggtctgt atagtactgc
     1561 aaagcaggac tgaatccctt ctgctgcaaa tactggattc gaccttggtc aatcagcaat
     1621 ttacaaagat gccctatttt cttcttttct tcaacactaa gaagcctaaa ttgaataaac
     1681 acacacaaaa cattgttaaa attttgcaaa agtttataaa aaattatttt tgtcactatt
     1741 tattgagaga ctgttaacta acccataatg tactaagtac tttgtcccat gcttccaaga
     1801 cacattatat ttatgaccac aataaaagat gtgtatattt ta
//
