LOCUS       NM_013456               2887 bp    mRNA    linear   ROD 01-JUN-2024
DEFINITION  Mus musculus actinin alpha 3 (Actn3), mRNA.
ACCESSION   NM_013456
VERSION     NM_013456.2
KEYWORDS    RefSeq; RefSeq Select.
SOURCE      Mus musculus (house mouse)
  ORGANISM  Mus musculus
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
            Muroidea; Muridae; Murinae; Mus; Mus.
REFERENCE   1  (bases 1 to 2887)
  AUTHORS   Dos Santos,M., Shah,A.M., Zhang,Y., Bezprozvannaya,S., Chen,K.,
            Xu,L., Lin,W., McAnally,J.R., Bassel-Duby,R., Liu,N. and Olson,E.N.
  TITLE     Opposing gene regulatory programs governing myofiber development
            and maturation revealed at single nucleus resolution
  JOURNAL   Nat Commun 14 (1), 4333 (2023)
   PUBMED   37468485
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2887)
  AUTHORS   Broadway-Stringer,S., Jiang,H., Wadmore,K., Hooper,C., Douglas,G.,
            Steeples,V., Azad,A.J., Singer,E., Reyat,J.S., Galatik,F.,
            Ehler,E., Bennett,P., Kalisch-Smith,J.I., Sparrow,D.B., Davies,B.,
            Djinovic-Carugo,K., Gautel,M., Watkins,H. and Gehmlich,K.
  TITLE     Insights into the Role of a Cardiomyopathy-Causing Genetic Variant
            in ACTN2
  JOURNAL   Cells 12 (5), 721 (2023)
   PUBMED   36899856
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2887)
  AUTHORS   Haug,M., Reischl,B., Nubler,S., Kiriaev,L., Mazala,D.A.G.,
            Houweling,P.J., North,K.N., Friedrich,O. and Head,S.I.
  TITLE     Absence of the Z-disc protein alpha-actinin-3 impairs the
            mechanical stability of Actn3KO mouse fast-twitch muscle fibres
            without altering their contractile properties or twitch kinetics
  JOURNAL   Skelet Muscle 12 (1), 14 (2022)
   PUBMED   35733150
  REMARK    GeneRIF: Absence of the Z-disc protein alpha-actinin-3 impairs the
            mechanical stability of Actn3KO mouse fast-twitch muscle fibres
            without altering their contractile properties or twitch kinetics.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2887)
  AUTHORS   Kiriaev,L., Houweling,P.J., North,K.N. and Head,S.I.
  TITLE     Loss of alpha-actinin-3 confers protection from eccentric
            contraction damage in fast-twitch EDL muscles from aged mdx
            dystrophic mice by reducing pathological fibre branching
  JOURNAL   Hum Mol Genet 31 (9), 1417-1429 (2022)
   PUBMED   34761268
  REMARK    GeneRIF: Loss of alpha-actinin-3 confers protection from eccentric
            contraction damage in fast-twitch EDL muscles from aged mdx
            dystrophic mice by reducing pathological fibre branching.
REFERENCE   5  (bases 1 to 2887)
  AUTHORS   Seo,J.Y., Kang,J.S., Kim,Y.L., Jo,Y.W., Kim,J.H., Hann,S.H.,
            Park,J., Park,I., Park,H., Yoo,K., Rhee,J., Park,J.W., Ha,Y.C. and
            Kong,Y.Y.
  TITLE     Maintenance of type 2 glycolytic myofibers with age by Mib1-Actn3
            axis
  JOURNAL   Nat Commun 12 (1), 1294 (2021)
   PUBMED   33637766
  REMARK    GeneRIF: Maintenance of type 2 glycolytic myofibers with age by
            Mib1-Actn3 axis.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2887)
  AUTHORS   Zabludoff,S.D., Csete,M., Wagner,R., Yu,X. and Wold,B.J.
  TITLE     p27Kip1 is expressed transiently in developing myotomes and
            enhances myogenesis
  JOURNAL   Cell Growth Differ 9 (1), 1-11 (1998)
   PUBMED   9438383
REFERENCE   7  (bases 1 to 2887)
  AUTHORS   Fernandes,M., Lespinasse,F., Rotomondo,F., Poirier,C., Guenet,J.L.,
            Gaudray,P. and Carle,G.F.
  TITLE     Comparative mapping of two adjacent regions of MMU19 with their
            human counterpart on HSA11q13
  JOURNAL   Cytogenet Cell Genet 81 (3-4), 237-246 (1998)
   PUBMED   9730611
REFERENCE   8  (bases 1 to 2887)
  AUTHORS   Yoon,J.K., Olson,E.N., Arnold,H.H. and Wold,B.J.
  TITLE     Different MRF4 knockout alleles differentially disrupt Myf-5
            expression: cis-regulatory interactions at the MRF4/Myf-5 locus
  JOURNAL   Dev Biol 188 (2), 349-362 (1997)
   PUBMED   9268580
REFERENCE   9  (bases 1 to 2887)
  AUTHORS   Hsu,D.K., Guo,Y., Alberts,G.F., Peifley,K.A. and Winkles,J.A.
  TITLE     Fibroblast growth factor-1-inducible gene FR-17 encodes a nonmuscle
            alpha-actinin isoform
  JOURNAL   J Cell Physiol 167 (2), 261-268 (1996)
   PUBMED   8613466
REFERENCE   10 (bases 1 to 2887)
  AUTHORS   Schiaffino,S. and Reggiani,C.
  TITLE     Molecular diversity of myofibrillar proteins: gene regulation and
            functional significance
  JOURNAL   Physiol Rev 76 (2), 371-423 (1996)
   PUBMED   8618961
  REMARK    Review article
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BY132390.1, AF093775.1 and
            BX630701.1.
            
            On Jan 4, 2013 this sequence version replaced NM_013456.1.
            
            Summary: This gene encodes a member of the alpha-actin binding
            protein gene family. The encoded protein is primarily expressed in
            skeletal muscle and functions as a structural component of
            sarcomeric Z line. This protein is involved in crosslinking actin
            containing thin filaments. [provided by RefSeq, Sep 2015].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AF093775.1, BC111890.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMN00849374,
                                           SAMN00849375 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-25                BY132390.1         1-25
            26-2880             AF093775.1         1-2855
            2881-2887           BX630701.1         4-10                c
FEATURES             Location/Qualifiers
     source          1..2887
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="19"
                     /map="19 4.12 cM"
     gene            1..2887
                     /gene="Actn3"
                     /note="actinin alpha 3"
                     /db_xref="GeneID:11474"
                     /db_xref="MGI:MGI:99678"
     exon            1..199
                     /gene="Actn3"
                     /inference="alignment:Splign:2.1.0"
     CDS             56..2758
                     /gene="Actn3"
                     /note="F-actin cross-linking protein; alpha-actinin
                     skeletal muscle"
                     /codon_start=1
                     /product="alpha-actinin-3"
                     /protein_id="NP_038484.1"
                     /db_xref="CCDS:CCDS29441.1"
                     /db_xref="GeneID:11474"
                     /db_xref="MGI:MGI:99678"
                     /translation="MMMVMQPEGLGAGEGPFSGGGGGEYMEQEEDWDRDLLLDPAWEK
                     QQRKTFTAWCNSHLRKAGTQIENIEEDFRNGLKLMLLLEVISGERLPRPDKGKMRFHK
                     IANVNKALDFIASKGVKLVSIGAEEIVDGNLKMTLGMIWTIILRFAIQDISVEETSAK
                     EGLLLWCQRKTAPYRNVNVQNFHTSWKDGLALCALIHRHRPDLIDYAKLRKDDPIGNL
                     NTAFEVAEKYLDIPKMLDAEDIVNTPKPDEKAIMTYVSCFYHAFAGAEQAETAANRIC
                     KVLAVNQENEKLMEEYEKLASELLEWIRRTVPWLENRVGEPSMSAMQRKLEDFRDYRR
                     LHKPPRVQEKCQLEINFNTLQTKLRLSHRPAFMPSEGKLVSDIANAWRGLEQVEKGYE
                     DWLLSEIRRLQRLQHLAEKFQQKASLHEAWTRGKEEMLNQHDYESASLQEVRALLRRH
                     EAFESDLAAHQDRVEHIAALAQELNELDYHEAASVNSRCQAICDQWDNLGTLTQKRRD
                     ALERMEKLLETIDQLQLEFARRAAPFNNWLDGAIEDLQDVWLVHSVEETQSLLTAHEQ
                     FKATLPEADRERGAILGIQGEIQKICQTYGLRPKSGNPYITLSSQDINNKWDTVRKLV
                     PSRDQTLQEELARQQVNERLRRQFAAQANAIGPWIQGKVEEVGRLAAGLAGSLEEQMA
                     GLRQQEQNIINYKSNIDRLEGDHQLLQESLVFDNKHTVYSMEHIRVGWEQLLTSIART
                     INEVENQVLTRDAKGLSQEQLNEFRASFNHFDRKRNGMMEPDDFRACLISMGYDLGEV
                     EFARIMTMVDPNAAGVVTFQAFIDFMTRETAETDTAEQVVASFKILAGDKNYITPEEL
                     RRELPAEQAEYCIRRMAPYKGSGAPSGALDYVAFSSALYGESDL"
     exon            200..314
                     /gene="Actn3"
                     /inference="alignment:Splign:2.1.0"
     exon            315..434
                     /gene="Actn3"
                     /inference="alignment:Splign:2.1.0"
     exon            435..521
                     /gene="Actn3"
                     /inference="alignment:Splign:2.1.0"
     exon            522..609
                     /gene="Actn3"
                     /inference="alignment:Splign:2.1.0"
     exon            610..688
                     /gene="Actn3"
                     /inference="alignment:Splign:2.1.0"
     exon            689..770
                     /gene="Actn3"
                     /inference="alignment:Splign:2.1.0"
     exon            771..856
                     /gene="Actn3"
                     /inference="alignment:Splign:2.1.0"
     exon            857..949
                     /gene="Actn3"
                     /inference="alignment:Splign:2.1.0"
     exon            950..1180
                     /gene="Actn3"
                     /inference="alignment:Splign:2.1.0"
     exon            1181..1328
                     /gene="Actn3"
                     /inference="alignment:Splign:2.1.0"
     exon            1329..1479
                     /gene="Actn3"
                     /inference="alignment:Splign:2.1.0"
     exon            1480..1588
                     /gene="Actn3"
                     /inference="alignment:Splign:2.1.0"
     exon            1589..1729
                     /gene="Actn3"
                     /inference="alignment:Splign:2.1.0"
     exon            1730..1912
                     /gene="Actn3"
                     /inference="alignment:Splign:2.1.0"
     exon            1913..2047
                     /gene="Actn3"
                     /inference="alignment:Splign:2.1.0"
     exon            2048..2227
                     /gene="Actn3"
                     /inference="alignment:Splign:2.1.0"
     exon            2228..2374
                     /gene="Actn3"
                     /inference="alignment:Splign:2.1.0"
     exon            2375..2440
                     /gene="Actn3"
                     /inference="alignment:Splign:2.1.0"
     exon            2441..2599
                     /gene="Actn3"
                     /inference="alignment:Splign:2.1.0"
     exon            2600..2887
                     /gene="Actn3"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2853..2858
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Actn3"
                     /note="hexamer: AATAAA"
     polyA_site      2881
                     /gene="Actn3"
                     /note="major polyA site"
ORIGIN      
        1 tgagtgtgca ggagctcgcc cagtgaagca gagcggagcc aagagcctga gcaagatgat
       61 gatggttatg cagcccgagg gtctgggggc cggggagggg cccttctctg gcggtggggg
      121 cggcgagtac atggaacagg aggaggactg ggaccgcgac ttgctgttgg acccggcctg
      181 ggagaaacag cagcggaaaa ccttcactgc ctggtgcaac tcacatctgc gcaaggcagg
      241 cacgcagatc gagaacattg aagaggactt ccgcaatggc ctgaagctca tgctgctcct
      301 ggaggtcatt tccggagaga ggctgcctag gcccgacaaa ggcaagatgc gcttccacaa
      361 aatcgccaat gtcaataaag ccctagactt cattgccagc aaaggagtta agctagtgtc
      421 catcggtgct gaagaaattg ttgacgggaa cctgaagatg accctgggca tgatctggac
      481 catcatcctc cgctttgcca ttcaggacat ctctgtagaa gagacctcag ccaaagaagg
      541 cttgcttctc tggtgtcagc ggaaaacagc accgtaccgc aatgtcaacg tacagaactt
      601 ccataccagc tggaaggatg gcctggccct ctgtgctctc atccaccgtc accggccaga
      661 cctcattgac tatgccaagc ttcgcaagga tgacccaatt ggaaacctga acactgcctt
      721 cgaggtggca gagaaatacc tggacattcc taagatgctg gatgcagaag atatcgtgaa
      781 cacccccaaa ccagatgaga aagccatcat gacctatgtt tcctgcttct accatgcgtt
      841 tgctggggct gagcaggcag agactgctgc caacaggatc tgcaaggtct tagctgtgaa
      901 ccaggaaaat gagaagctga tggaggagta tgagaaactg gccagtgagc tgttggagtg
      961 gatccgccgc actgtcccat ggctagagaa ccgcgtgggc gaacccagca tgagtgccat
     1021 gcagcgcaag ctggaggact tccgagacta tcgacgcctg cacaagcctc cccgtgtgca
     1081 ggagaagtgc cagctggaga tcaacttcaa cacgctgcag accaagttgc gcctgagcca
     1141 ccgacccgct ttcatgccct ccgagggcaa gctggtttcg gacatagcca atgcgtggcg
     1201 gggactggag caggtagaga agggctatga ggattggctg ctttcggaga tcaggcgtct
     1261 gcagaggctt cagcacctgg ctgagaagtt ccaacagaag gcttccctgc atgaagcttg
     1321 gacccggggc aaagaggaaa tgttaaacca gcacgactac gagtcagcct cgctgcagga
     1381 ggtgcgtgcg ctcttgcgac gtcatgaggc ctttgagagc gacctggctg cgcaccaaga
     1441 ccgggtggaa cacatcgcgg ccctggccca ggaactcaat gagctcgact accatgaggc
     1501 agcctccgtg aacagccgct gccaagccat ctgtgaccag tgggataact tgggtacact
     1561 gacccagaag aggagggacg cactagagag gatggagaag ctcctggaga ccattgacca
     1621 gctgcagctg gagtttgctc ggcgggcagc ccccttcaat aactggctgg atggggctat
     1681 tgaggacctg caggatgtgt ggctcgtgca ctctgtggag gagacccaga gcctgctaac
     1741 agcacacgaa cagttcaagg caacgttgcc cgaggctgat cgagagcgag gcgccatcct
     1801 gggcatccaa ggagagatcc agaagatttg ccaaacatac ggactacggc caaagtccgg
     1861 caacccctac atcaccctca gttcgcagga catcaacaat aagtgggata cagtcagaaa
     1921 gctggtaccc agccgtgacc agacactgca ggaggagctg gcccggcagc aggtgaacga
     1981 gaggctccgg cgacagtttg cagcccaggc taatgccata ggaccctgga tccagggaaa
     2041 agtggaggaa gtaggacggc tggcagctgg gctggccggc tctctggagg agcagatggc
     2101 aggtctgcgg cagcaggaac agaacatcat caattacaag agcaacatcg accggctgga
     2161 gggtgaccac cagctgctgc aggagagcct agtctttgac aacaagcaca cagtctacag
     2221 catggagcac attcgtgtgg gctgggagca gttgctcacc tccattgccc gcaccatcaa
     2281 tgaggtcgag aaccaggtac tgacccgaga tgccaagggc ctgagccagg agcagctcaa
     2341 cgaattccgc gcctccttca accactttga ccggaagcgg aatgggatga tggagcccga
     2401 cgacttccga gcttgtctca tctccatggg ttacgatctg ggagaagtgg agtttgctcg
     2461 aatcatgacc atggtggacc ccaatgcagc tggggttgtg accttccaag ccttcattga
     2521 cttcatgacc cgagagactg ccgagacaga cacggctgaa caagtggtag cctccttcaa
     2581 aatcctggca ggagacaaga actacattac cccagaggag ctgcggagag agctcccagc
     2641 cgagcaggct gagtactgca tccgtcggat ggcgccctac aagggatctg gggctccatc
     2701 tggagctctg gactacgtgg ctttctctag tgccctctat ggagagagtg acctctgaca
     2761 ttctccgtgg aaaaggagag ggggcacttc ctgtggtgga ttcagctgtc cctcagggcc
     2821 aggccttcag gtcatccagt gccatgcttc tgaataaaga tcaggctgtg ggcctctccc
     2881 atctgtt
//
