LOCUS       NM_198271               4922 bp    mRNA    linear   PRI 10-FEB-2025
DEFINITION  Homo sapiens leiomodin 3 (LMOD3), transcript variant 1, mRNA.
ACCESSION   NM_198271 XM_067529
VERSION     NM_198271.5
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 4922)
  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 4922)
  AUTHORS   Al Shareef,S.M., Basit,S., Li,S., Pfister,C., Pradervand,S.,
            Lecendreux,M., Mayer,G., Dauvilliers,Y., Salpietro,V., Houlden,H.,
            BaHammam,A.S. and Tafti,M.
  TITLE     Kleine-Levin syndrome is associated with LMOD3 variants
  JOURNAL   J Sleep Res 28 (3), e12718 (2019)
   PUBMED   29923248
  REMARK    GeneRIF: LMOD3 is expressed in the brain and colocalized with major
            structures involved in the regulation of vigilance states. LMOD
            proteins are structural proteins and seem to be developmentally
            regulated.
            Erratum:[J Sleep Res. 2020 Jun;29(3):e12849. doi:
            10.1111/jsr.12849.. PMID: 32449287]
REFERENCE   3  (bases 1 to 4922)
  AUTHORS   Schatz,U.A., Weiss,S., Wenninger,S., Schoser,B., Muss,W.H.,
            Bittner,R.E., Schmidt,W.M., Schossig,A.S., Rudnik-Schoneborn,S. and
            Baumann,M.
  TITLE     Evidence of mild founder LMOD3 mutations causing nemaline myopathy
            10 in Germany and Austria
  JOURNAL   Neurology 91 (18), e1690-e1694 (2018)
   PUBMED   30291184
  REMARK    GeneRIF: We characterized the clinical features and the genetic
            status of 4 unrelated adolescent or adult patients with nemaline
            myopathy due to the missense variant c.1648C>T, p.(Leu550Phe) in
            the LMOD3 gene, either on both alleles or in trans with another
            missense variant (c.1004A>G, p.Gln335Arg).
REFERENCE   4  (bases 1 to 4922)
  AUTHORS   Berkenstadt,M., Pode-Shakked,B., Barel,O., Barash,H., Achiron,R.,
            Gilboa,Y., Kidron,D. and Raas-Rothschild,A.
  TITLE     LMOD3-Associated Nemaline Myopathy: Prenatal Ultrasonographic,
            Pathologic, and Molecular Findings
  JOURNAL   J Ultrasound Med 37 (7), 1827-1833 (2018)
   PUBMED   29331079
  REMARK    GeneRIF: The LMOD3 gene encodes leiomodin 3, a member of the
            tropomodulin family of proteins, which is expressed in skeletal
            muscle from the early stages of differentiation and plays a role in
            actin thin-filament nucleation.
REFERENCE   5  (bases 1 to 4922)
  AUTHORS   Abbott,M., Jain,M., Pferdehirt,R., Chen,Y., Tran,A., Duz,M.B.,
            Seven,M., Gibbs,R.A., Muzny,D., Lee,B., Marom,R. and Burrage,L.C.
  TITLE     Neonatal fractures as a presenting feature of LMOD3-associated
            congenital myopathy
  JOURNAL   Am J Med Genet A 173 (10), 2789-2794 (2017)
   PUBMED   28815944
  REMARK    GeneRIF: LMOD3 mutation is associated with congenital myopathy.
REFERENCE   6  (bases 1 to 4922)
  AUTHORS   Yuen,M., Sandaradura,S.A., Dowling,J.J., Kostyukova,A.S., Moroz,N.,
            Quinlan,K.G., Lehtokari,V.L., Ravenscroft,G., Todd,E.J.,
            Ceyhan-Birsoy,O., Gokhin,D.S., Maluenda,J., Lek,M., Nolent,F.,
            Pappas,C.T., Novak,S.M., D'Amico,A., Malfatti,E., Thomas,B.P.,
            Gabriel,S.B., Gupta,N., Daly,M.J., Ilkovski,B., Houweling,P.J.,
            Davidson,A.E., Swanson,L.C., Brownstein,C.A., Gupta,V.A., Medne,L.,
            Shannon,P., Martin,N., Bick,D.P., Flisberg,A., Holmberg,E., Van den
            Bergh,P., Lapunzina,P., Waddell,L.B., Sloboda,D.D., Bertini,E.,
            Chitayat,D., Telfer,W.R., Laquerriere,A., Gregorio,C.C.,
            Ottenheijm,C.A., Bonnemann,C.G., Pelin,K., Beggs,A.H.,
            Hayashi,Y.K., Romero,N.B., Laing,N.G., Nishino,I.,
            Wallgren-Pettersson,C., Melki,J., Fowler,V.M., MacArthur,D.G.,
            North,K.N. and Clarke,N.F.
  TITLE     Leiomodin-3 dysfunction results in thin filament disorganization
            and nemaline myopathy
  JOURNAL   J Clin Invest 124 (11), 4693-4708 (2014)
   PUBMED   25250574
  REMARK    GeneRIF: LMOD3 is essential for the organization of sarcomeric thin
            filaments in skeletal muscle.
            Erratum:[J Clin Invest. 2015 Jan;125(1):456-7. doi:
            10.1172/JCI80057.. PMID: 25654555]
REFERENCE   7  (bases 1 to 4922)
  AUTHORS   North,K.N. and Ryan,M.M.
  TITLE     Nemaline Myopathy - RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301465
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL832709.1, AL832033.1,
            BC121019.2, AI014510.1, AK300096.1 and AC092060.2.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 30, 2019 this sequence version replaced NM_198271.4.
            
            Summary: The protein encoded by this gene is a member of the
            leiomodin family of proteins. This protein contains three
            actin-binding domains, a tropomyosin domain, a leucine-rich repeat
            domain, and a Wiskott-Aldrich syndrome protein homology 2 domain
            (WH2). Localization of this protein to the pointed ends of thin
            filaments has been observed, and there is evidence that this
            protein acts as a catalyst of actin nucleation, and is important to
            the organization of sarcomeric thin filaments in skeletal muscles.
            Mutations in this gene have been associated as one cause of
            Nemaline myopathy, as other genes have also been linked to this
            disorder. Nemaline myopathy is a disorder characterized by
            nonprogressive generalized muscle weakness and protein inclusions
            (nemaline bodies) in skeletal myofibers. Patients with mutations in
            this gene often present with a severe congenital form of the
            disorder. [provided by RefSeq, Jan 2015].
            
            Transcript Variant: This variant (1) represents the longer
            transcript. Both variants 1 and 2 encode the same protein.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AL832033.1, AL832709.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968832, SAMEA2147975
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000420581.7/ ENSP00000414670.3
            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
            1-29                AL832709.1         5-33
            30-845              AL832033.1         1-816
            846-2085            BC121019.2         725-1964
            2086-2173           AI014510.1         87-174              c
            2174-2315           AK300096.1         2053-2194
            2316-4922           AC092060.2         148968-151574       c
FEATURES             Location/Qualifiers
     source          1..4922
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p14.1"
     gene            1..4922
                     /gene="LMOD3"
                     /gene_synonym="NEM10"
                     /note="leiomodin 3"
                     /db_xref="GeneID:56203"
                     /db_xref="HGNC:HGNC:6649"
                     /db_xref="MIM:616112"
     exon            1..503
                     /gene="LMOD3"
                     /gene_synonym="NEM10"
                     /inference="alignment:Splign:2.1.0"
     CDS             210..1892
                     /gene="LMOD3"
                     /gene_synonym="NEM10"
                     /note="leiomodin, fetal form; leiomodin 3 (fetal)"
                     /codon_start=1
                     /product="leiomodin-3"
                     /protein_id="NP_938012.2"
                     /db_xref="CCDS:CCDS46862.1"
                     /db_xref="GeneID:56203"
                     /db_xref="HGNC:HGNC:6649"
                     /db_xref="MIM:616112"
                     /translation="MSEHSRNSDQEELLDEEINEDEILANLSAEELKELQSEMEVMAP
                     DPSLPVGMIQKDQTDKPPTGNFNHKSLVDYMYWEKASRRMLEEERVPVTFVKSEEKTQ
                     EEHEEIEKRNKNMAQYLKEKLNNEIVANKRESKGSSNIQETDEEDEEEEDDDDDDEGE
                     DDGEESEETNREEEGKAKEQIRNCENNCQQVTDKAFKEQRDRPEAQEQSEKKISKLDP
                     KKLALDTSFLKVSTRPSGNQTDLDGSLRRVRKNDPDMKELNLNNIENIPKEMLLDFVN
                     AMKKNKHIKTFSLANVGADENVAFALANMLRENRSITTLNIESNFITGKGIVAIMRCL
                     QFNETLTELRFHNQRHMLGHHAEMEIARLLKANNTLLKMGYHFELPGPRMVVTNLLTR
                     NQDKQRQKRQEEQKQQQLKEQKKLIAMLENGLGLPPGMWELLGGPKPDSRMQEFFQPP
                     PPRPPNPQNVPFSQRSEMMKKPSQAPKYRTDPDSFRVVKLKRIQRKSRMPEAREPPEK
                     TNLKDVIKTLKPVPRNRPPPLVEITPRDQLLNDIRHSSVAYLKPVQLPKELA"
     exon            504..1865
                     /gene="LMOD3"
                     /gene_synonym="NEM10"
                     /inference="alignment:Splign:2.1.0"
     exon            1866..4922
                     /gene="LMOD3"
                     /gene_synonym="NEM10"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2240..2245
                     /regulatory_class="polyA_signal_sequence"
                     /gene="LMOD3"
                     /gene_synonym="NEM10"
                     /note="hexamer: AATATA"
     polyA_site      2258
                     /gene="LMOD3"
                     /gene_synonym="NEM10"
                     /note="major polyA site"
     regulatory      4902..4907
                     /regulatory_class="polyA_signal_sequence"
                     /gene="LMOD3"
                     /gene_synonym="NEM10"
                     /note="hexamer: AATAAA"
     polyA_site      4922
                     /gene="LMOD3"
                     /gene_synonym="NEM10"
                     /note="major polyA site"
ORIGIN      
        1 aatatagatc cggcaagagc ttagctgtga tcactcctag ctgctcagca aaccactgag
       61 gttcctggga aaaaaaaaaa aatatctcaa gggtgtgtta acttgggaca ctcgttaact
      121 gggggacctt cttgaggctt ttttccttct ttttaaaaat catctttgat tattcttctt
      181 ttctagtaaa ataatattta gaaaaaataa tgtcagagca cagcagaaat tcagatcaag
      241 aagaacttct cgatgaggag attaatgaag atgaaatctt ggccaacttg tctgctgaag
      301 aactgaaaga actgcagtcg gaaatggaag tcatggcccc tgaccccagc cttcccgtgg
      361 gaatgattca gaaagatcaa actgacaagc caccgacagg aaacttcaat cataaatctc
      421 ttgttgatta tatgtattgg gaaaaggcat ccaggcgcat gctggaagag gaacgagttc
      481 ctgtcacctt tgtgaaatcc gaggaaaaga ctcaagaaga gcatgaagaa atagaaaaac
      541 gtaataaaaa tatggcccag tatttaaaag aaaagctcaa taatgaaata gttgcaaata
      601 aaagagaatc aaagggcagc agcaatatcc aagaaacaga tgaagaagat gaagaagaag
      661 aagatgatga tgatgacgac gaaggagaag atgatggtga agagagtgaa gaaacgaaca
      721 gagaagagga aggcaaagca aaggaacaaa ttagaaattg tgagaacaac tgccagcagg
      781 taactgacaa agcattcaaa gaacagagag acagaccaga ggcccaagaa caaagtgaga
      841 aaaaaatatc gaaattagat cctaagaagt tagctctaga caccagcttt ttgaaggtaa
      901 gtacaaggcc ttcaggaaac cagacagacc tggatgggag cttgaggaga gttaggaaaa
      961 atgatcctga catgaaggaa ctcaacctga acaacattga aaacatcccc aaagaaatgt
     1021 tactggactt tgtcaatgca atgaagaaaa acaagcacat caaaacattc agtttagcca
     1081 atgtgggtgc agatgagaat gtagcatttg ccttggctaa catgttgcgt gaaaatagaa
     1141 gcatcaccac tctcaacatc gagtccaatt tcatcacagg taaagggatt gtggccatca
     1201 tgaggtgtct ccagtttaat gagacgctaa ctgagcttcg gtttcacaat cagaggcaca
     1261 tgttgggtca ccatgctgaa atggaaatag ccaggctttt gaaggcaaac aacactctcc
     1321 tgaagatggg ctaccatttt gagcttccgg gtcccagaat ggtggtcact aatctgctca
     1381 ccaggaatca ggataaacaa aggcagaaac gacaggaaga gcaaaaacag cagcaactca
     1441 aggaacagaa gaagctgata gccatgttag agaatgggtt ggggctgccc cctgggatgt
     1501 gggagctgtt gggaggaccc aagccagatt ccagaatgca ggaattcttc cagccaccgc
     1561 cacctcggcc tcccaacccc caaaatgtcc cctttagtca acgcagtgaa atgatgaaaa
     1621 agccatcgca ggccccgaag tacaggacag accctgactc cttccgggtg gtgaagctga
     1681 agagaatcca gcgcaaatct cggatgccgg aagccagaga accacccgag aaaaccaacc
     1741 tcaaagatgt catcaaaacg ctcaagccag tgccgagaaa caggccaccc ccattggtgg
     1801 aaatcactcc cagagatcag ctgctaaacg acattcgtca cagcagtgtc gcctatctta
     1861 aacctgtgca actgccaaaa gaactggcgt aagaggcaac agagccatct agaagaacaa
     1921 gaaatggaaa tagtgactct tggattacag catggagact atgtcagcag caatacttta
     1981 ggatccacgt ggcagaactg gaaacaatgc taccatctga taagggtatt tgtaaaaggc
     2041 agaatgtttg ggccatgaag aagtaggggc tgaagaggaa ggtggaagga gataaaatat
     2101 aatatttaga ggcaatattt tctacttgca atcaatttga gtgactcagg tgaaatttag
     2161 agtcatattt cccgaagcag aagttaaaga aaatttttta aacatttgct ttattattgt
     2221 tttcttctgg taaataataa atataacaga agtgttaact attgtattcc catttttttc
     2281 tccttccatc tcttctgcgg taattcatca catagtatct taaagggaac aaataatgtt
     2341 tcatcctatg gaaatgtgaa ggatgaattg agctcctggc ccttctgatg ctttgaaatg
     2401 gaaggattgt tccttagagc ttctctgcag aatcagtgga gattttcagt ttcccaccct
     2461 gcctggcttt ctctcttggt gactcccttg gtgttttgga gtattctttc tataggggta
     2521 cctgtgaggg gcagaacacg taagccacag aacatggtga aaactaagtg tcactaggaa
     2581 aagtaatggg aaagtaaacc ctgcatatat gaaaacttcc tggcagcaag ttttcatata
     2641 tagagggaca atgggagaca gcatgctgtt tttatagaaa agaagtttta cataatatag
     2701 ttattgacaa gcttttggtt ttggctaaat acacacacac acacacacgc tcatatgtgt
     2761 ttactctgta agtctaattt gattttatca ctctcaaaca tattttaaag gaaacttgct
     2821 tacaggaagg attaaacttg aactacttat cctattcttt aaggcactcc attgcctggc
     2881 cccaatttac taatcctgtc ttatttccca caaatccttt atactctact cgatgaaaca
     2941 tccttgtgca cacccttgtg cctttgctcg cattaatcct tccaagagac ttccctcctg
     3001 ttctccatta atgaacgtcc tacccagtct tcaactcccg ggtcagatcc tgtgtcctcc
     3061 ataaaaaatt ttccagacaa ctccaatctg tccttcttcc aagttcctag aggccttaat
     3121 tattcattct agccactagg tgcatagaat ttgagatttt tgtaataata gaagtagtgt
     3181 gaaccctaga aattagaaaa tcaagctttg ggccaggtgc ggtggctcat gcctgtaatc
     3241 ccagcactat gggaggccag ggagggagga tctccagagg tcaggagttc gagaccagcc
     3301 tggccaacat ggtgaaaccc cgtctctatt aaaaatacaa aaattagctg ggcatgatgg
     3361 caggcacctg taatcccagc tactcgggag gctgaggcag gagaattgct tgaactgggg
     3421 aggcagaggt tgcagtgaga caagatcacg tcactgtact ccagcctggg tgacagagtg
     3481 atactccatc tcaaaaaaaa aaaaaaaaaa aaaaaaaaaa aaaaaaaaaa aaacctttgg
     3541 tgccttttct ctcttcttta cctgagtaaa taattggcac ctgccttctt tctcctttta
     3601 tgttatcata agtggcatgt atcaaaccaa acaggctagg ggagaatagg tctaattgtg
     3661 acagacttaa aaacaacaca ttatttggaa agacaagcca tgggaaagaa atatggcgtt
     3721 tctatttttt taagataatt tagtatgtac aaaagtatcc aaatttaaat atagttttca
     3781 atggctgata gttttgtttt ctcacccttc aatatttcta gaaaacatcc ttgcatacaa
     3841 agcaggatag ctaagaaagg gctgtaacaa acaaaacttc aagtgtctag cacatactac
     3901 atctaagagg ctaaactctg ataggaaaag cactttaaac ataattaaaa gcttaatgta
     3961 aattagtagt tgaaattcta ggccggtgcg gtggctcatg cctgtaatcc cagcactgta
     4021 ggcggccgag gtgggtgaat cacatgaggt caggagttca agaccagcct gaccaacatg
     4081 gtgaaacccc atttctacta aaaaaaaaaa aaaaaaaaaa aaaaaataca aaattagcca
     4141 ggcatggtag ctcatgcctg taatcccagc tacttgggag gcaggagaat cacctgaaca
     4201 tgggaggtgg aggttgcagt gagctgagat tgcaccattg cactccagcc tgggcaacaa
     4261 gagcgaaacc tcatctcaaa aaaaaaaaaa aaattctaga aagcccctat gcatttgttt
     4321 gtatagccac agtattatta aagtcaggaa tttcaaaatg cacagtaaga gggtttttat
     4381 cttagatata caagaagaaa agatgatcca atttcatagc ttatggcctc aatacacagg
     4441 ttttgccaaa agaggtgaag cagttcacat tatgcttttt ctaccaccca accctaaaga
     4501 tcttagttgc agattttagc ttgtttttaa atgtaatcat aatttacaac atttatatgt
     4561 tacatttttc tgttattacc cttccagaat tgactactgg ccattagtaa ttacaggtat
     4621 cttttttttt attagtttct ccaaatttat tggattttat cggcagaatt caccttgtag
     4681 aaaatggaat gggctaacat gtatataaaa ctgggctaac atgtatataa aactcgtgcc
     4741 aggtttaaaa ataggatccc actggaattg ttttattctg gctgcaagtt aataaagtat
     4801 tcaagcttta ctaaacagta tttgaaacag ctgaagtgtt tgcttcactg tttatagggt
     4861 cgtcgccaag tttctcaggt atttaagaca gatgtgcatt aaataaagtc tcaccaaaaa
     4921 aa
//
