LOCUS       NM_001258371            3092 bp    mRNA    linear   PRI 13-OCT-2024
DEFINITION  Homo sapiens actinin alpha 3 (ACTN3), transcript variant 2, mRNA.
ACCESSION   NM_001258371
VERSION     NM_001258371.3
KEYWORDS    RefSeq.
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 3092)
  AUTHORS   Chae,J.H., Eom,S.H., Lee,S.K., Jung,J.H. and Kim,C.H.
  TITLE     Association between Complex ACTN3 and ACE Gene Polymorphisms and
            Elite Endurance Sports in Koreans: A Case-Control Study
  JOURNAL   Genes (Basel) 15 (9), 1110 (2024)
   PUBMED   39336701
  REMARK    GeneRIF: Association between Complex ACTN3 and ACE Gene
            Polymorphisms and Elite Endurance Sports in Koreans: A Case-Control
            Study.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3092)
  AUTHORS   Del Coso,J., Rodas,G., Soler-Aguinaga,A., Lopez-Del Campo,R.,
            Resta,R., Gonzalez-Rodenas,J., Ferrandis,J. and Moreno-Perez,V.
  TITLE     ACTN3 XX Genotype Negatively Affects Running Performance and
            Increases Muscle Injury Incidence in LaLiga Football Players
  JOURNAL   Genes (Basel) 15 (3), 386 (2024)
   PUBMED   38540445
  REMARK    GeneRIF: ACTN3 XX Genotype Negatively Affects Running Performance
            and Increases Muscle Injury Incidence in LaLiga Football Players.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3092)
  AUTHORS   Petrovic,T., Djelic,M., Zdravkovic,M., Gavrilovic,T.,
            Atanasijevic,N. and Stojkovic,O.
  TITLE     Principal components analysis to evaluate complex association of
            polymorphisms in ACE and ACTN3 genes and the extent of
            cardiovascular adaptive changes in elite athletes
  JOURNAL   J Sports Med Phys Fitness 64 (2), 192-200 (2024)
   PUBMED   38093640
  REMARK    GeneRIF: Principal components analysis to evaluate complex
            association of polymorphisms in ACE and ACTN3 genes and the extent
            of cardiovascular adaptive changes in elite athletes.
REFERENCE   4  (bases 1 to 3092)
  AUTHORS   Arejano,G.G., Hoffmann,L.V., Ferreira Wyse,L., Espindola
            Correia,P., Pieniz,S., Torma Botelho,F., Schneider,A., Schadock,I.
            and Castilho Barros,C.
  TITLE     Genetic polymorphisms in the angiotensin converting enzyme, actinin
            3 and paraoxonase 1 genes in women with diabetes and hypertension
  JOURNAL   Arch Endocrinol Metab 68, e210204 (2023)
   PUBMED   37948561
  REMARK    GeneRIF: Genetic polymorphisms in the angiotensin converting
            enzyme, actinin 3 and paraoxonase 1 genes in women with diabetes
            and hypertension.
REFERENCE   5  (bases 1 to 3092)
  AUTHORS   Nikolopoulos,S.N., Spengler,B.A., Kisselbach,K., Evans,A.E.,
            Biedler,J.L. and Ross,R.A.
  TITLE     The human non-muscle alpha-actinin protein encoded by the ACTN4
            gene suppresses tumorigenicity of human neuroblastoma cells
  JOURNAL   Oncogene 19 (3), 380-386 (2000)
   PUBMED   10656685
REFERENCE   6  (bases 1 to 3092)
  AUTHORS   North,K.N., Yang,N., Wattanasirichaigoon,D., Mills,M., Easteal,S.
            and Beggs,A.H.
  TITLE     A common nonsense mutation results in alpha-actinin-3 deficiency in
            the general population
  JOURNAL   Nat Genet 21 (4), 353-354 (1999)
   PUBMED   10192379
REFERENCE   7  (bases 1 to 3092)
  AUTHORS   Chan,Y., Tong,H.Q., Beggs,A.H. and Kunkel,L.M.
  TITLE     Human skeletal muscle-specific alpha-actinin-2 and -3 isoforms form
            homodimers and heterodimers in vitro and in vivo
  JOURNAL   Biochem Biophys Res Commun 248 (1), 134-139 (1998)
   PUBMED   9675099
REFERENCE   8  (bases 1 to 3092)
  AUTHORS   Pavalko,F.M. and LaRoche,S.M.
  TITLE     Activation of human neutrophils induces an interaction between the
            integrin beta 2-subunit (CD18) and the actin binding protein
            alpha-actinin
  JOURNAL   J Immunol 151 (7), 3795-3807 (1993)
   PUBMED   8104223
REFERENCE   9  (bases 1 to 3092)
  AUTHORS   Beggs,A.H., Byers,T.J., Knoll,J.H., Boyce,F.M., Bruns,G.A. and
            Kunkel,L.M.
  TITLE     Cloning and characterization of two human skeletal muscle
            alpha-actinin genes located on chromosomes 1 and 11
  JOURNAL   J Biol Chem 267 (13), 9281-9288 (1992)
   PUBMED   1339456
REFERENCE   10 (bases 1 to 3092)
  AUTHORS   Yuruker,B. and Niggli,V.
  TITLE     Alpha-actinin and vinculin in human neutrophils: reorganization
            during adhesion and relation to the actin network
  JOURNAL   J Cell Sci 101 (Pt 2), 403-414 (1992)
   PUBMED   1629252
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK303044.1, BC099647.3,
            AP002748.4 and AJ346025.1.
            
            On Aug 14, 2020 this sequence version replaced NM_001258371.2.
            
            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. An allelic polymorphism in this gene
            results in both coding and non-coding variants; the reference
            genome represents the coding allele. The non-functional allele of
            this gene is associated with elite athlete status. [provided by
            RefSeq, Apr 2024].
            
            Transcript Variant: This variant (2) uses an alternate exon in the
            5' UTR and coding region and initiates translation at an alternate
            start codon, compared to variant 1. The encoded isoform (2) is
            longer and has a distinct N-terminus, compared to isoform 1.
            
            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 :: AK303044.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2148093
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            polymorphic pseudogene :: PMID: 10192379
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1405              AK303044.1         1-1405
            1406-1812           BC099647.3         1179-1585
            1813-1813           AP002748.4         133364-133364
            1814-2126           BC099647.3         1587-1899
            2127-2127           AP002748.4         134410-134410
            2128-2571           BC099647.3         1901-2344
            2572-2572           AP002748.4         135423-135423
            2573-3084           AK303044.1         2573-3084
            3085-3087           AJ346025.1         332-334
            3088-3092           AP002748.4         136492-136496
FEATURES             Location/Qualifiers
     source          1..3092
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q13.2"
     gene            1..3092
                     /gene="ACTN3"
                     /gene_synonym="ACTN3D"
                     /note="actinin alpha 3"
                     /db_xref="GeneID:89"
                     /db_xref="HGNC:HGNC:165"
                     /db_xref="MIM:102574"
     exon            1..392
                     /gene="ACTN3"
                     /gene_synonym="ACTN3D"
                     /inference="alignment:Splign:2.1.0"
     CDS             117..2951
                     /gene="ACTN3"
                     /gene_synonym="ACTN3D"
                     /note="isoform 2 is encoded by transcript variant 2;
                     F-actin cross-linking protein; alpha-actinin skeletal
                     muscle"
                     /codon_start=1
                     /product="alpha-actinin-3 isoform 2"
                     /protein_id="NP_001245300.2"
                     /db_xref="CCDS:CCDS76439.1"
                     /db_xref="GeneID:89"
                     /db_xref="HGNC:HGNC:165"
                     /db_xref="MIM:102574"
                     /translation="MGIGLCVPPARCWKRLTRSSRGQPLERPAATIIIGLSIVERSKQ
                     TQRGPVDFSRSHSAPAAEQECKPRISAARSTPAPPSPAVPGFRTTPCQTFTAWCNSHL
                     RKAGTQIENIEEDFRNGLKLMLLLEVISGERLPRPDKGKMRFHKIANVNKALDFIASK
                     GVKLVSIGAEEIVDGNLKMTLGMIWTIILRFAIQDISVEETSAKEGLLLWCQRKTAPY
                     RNVNVQNFHTSWKDGLALCALIHRHRPDLIDYAKLRKDDPIGNLNTAFEVAEKYLDIP
                     KMLDAEDIVNTPKPDEKAIMTYVSCFYHAFAGAEQAETAANRICKVLAVNQENEKLME
                     EYEKLASELLEWIRRTVPWLENRVGEPSMSAMQRKLEDFRDYRRLHKPPRIQEKCQLE
                     INFNTLQTKLRLSHRPAFMPSEGKLVSDIANAWRGLEQVEKGYEDWLLSEIRRLQRLQ
                     HLAEKFRQKASLHEAWTRGKEEMLSQRDYDSALLQEVRALLRRHEAFESDLAAHQDRV
                     EHIAALAQELNELDYHEAASVNSRCQAICDQWDNLGTLTQKRRDALERMEKLLETIDR
                     LQLEFARRAAPFNNWLDGAVEDLQDVWLVHSVEETQSLLTAHDQFKATLPEADRERGA
                     IMGIQGEIQKICQTYGLRPCSTNPYITLSPQDINTKWDMVRKLVPSCDQTLQEELARQ
                     QVNERLRRQFAAQANAIGPWIQAKVEEVGRLAAGLAGSLEEQMAGLRQQEQNIINYKT
                     NIDRLEGDHQLLQESLVFDNKHTVYSMEHIRVGWEQLLTSIARTINEVENQVLTRDAK
                     GLSQEQLNEFRASFNHFDRKQNGMMEPDDFRACLISMGYDLGEVEFARIMTMVDPNAA
                     GVVTFQAFIDFMTRETAETDTTEQVVASFKILAGDKNYITPEELRRELPAKQAEYCIR
                     RMVPYKGSGAPAGALDYVAFSSALYGESDL"
     exon            393..507
                     /gene="ACTN3"
                     /gene_synonym="ACTN3D"
                     /inference="alignment:Splign:2.1.0"
     exon            508..627
                     /gene="ACTN3"
                     /gene_synonym="ACTN3D"
                     /inference="alignment:Splign:2.1.0"
     exon            628..714
                     /gene="ACTN3"
                     /gene_synonym="ACTN3D"
                     /inference="alignment:Splign:2.1.0"
     exon            715..802
                     /gene="ACTN3"
                     /gene_synonym="ACTN3D"
                     /inference="alignment:Splign:2.1.0"
     exon            803..881
                     /gene="ACTN3"
                     /gene_synonym="ACTN3D"
                     /inference="alignment:Splign:2.1.0"
     exon            882..963
                     /gene="ACTN3"
                     /gene_synonym="ACTN3D"
                     /inference="alignment:Splign:2.1.0"
     exon            964..1049
                     /gene="ACTN3"
                     /gene_synonym="ACTN3D"
                     /inference="alignment:Splign:2.1.0"
     exon            1050..1142
                     /gene="ACTN3"
                     /gene_synonym="ACTN3D"
                     /inference="alignment:Splign:2.1.0"
     exon            1143..1373
                     /gene="ACTN3"
                     /gene_synonym="ACTN3D"
                     /inference="alignment:Splign:2.1.0"
     exon            1374..1521
                     /gene="ACTN3"
                     /gene_synonym="ACTN3D"
                     /inference="alignment:Splign:2.1.0"
     exon            1522..1672
                     /gene="ACTN3"
                     /gene_synonym="ACTN3D"
                     /inference="alignment:Splign:2.1.0"
     exon            1673..1781
                     /gene="ACTN3"
                     /gene_synonym="ACTN3D"
                     /inference="alignment:Splign:2.1.0"
     exon            1782..1922
                     /gene="ACTN3"
                     /gene_synonym="ACTN3D"
                     /inference="alignment:Splign:2.1.0"
     exon            1923..2105
                     /gene="ACTN3"
                     /gene_synonym="ACTN3D"
                     /inference="alignment:Splign:2.1.0"
     exon            2106..2240
                     /gene="ACTN3"
                     /gene_synonym="ACTN3D"
                     /inference="alignment:Splign:2.1.0"
     exon            2241..2420
                     /gene="ACTN3"
                     /gene_synonym="ACTN3D"
                     /inference="alignment:Splign:2.1.0"
     exon            2421..2567
                     /gene="ACTN3"
                     /gene_synonym="ACTN3D"
                     /inference="alignment:Splign:2.1.0"
     exon            2568..2633
                     /gene="ACTN3"
                     /gene_synonym="ACTN3D"
                     /inference="alignment:Splign:2.1.0"
     exon            2634..2792
                     /gene="ACTN3"
                     /gene_synonym="ACTN3D"
                     /inference="alignment:Splign:2.1.0"
     exon            2793..3092
                     /gene="ACTN3"
                     /gene_synonym="ACTN3D"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3063..3068
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ACTN3"
                     /gene_synonym="ACTN3D"
                     /note="hexamer: AATAAA"
     polyA_site      3092
                     /gene="ACTN3"
                     /gene_synonym="ACTN3D"
                     /note="major polyA site"
ORIGIN      
        1 aatagccctg ccgcagccca tccagctggc tcagagccgt tccccatgcc cgggtgtctc
       61 catcacccca gaaaacatgc aaaacagctc ggcgcctctg tgttcctgac tgtgaaatgg
      121 ggatagggct ctgtgtccca ccagcgaggt gctggaagag gctcacgagg agctccagag
      181 ggcagcctct agagcggccc gcggccacta ttattatcgg cctttctatt gtggagagga
      241 gtaaacagac tcagagaggt cccgtggatt tctcaaggtc acacagcgcc ccagcagcgg
      301 agcaggaatg caaacccagg atctccgccg cgagatccac cccggcgccc ccgagtcccg
      361 cagttcccgg cttcaggaca accccttgcc agaccttcac tgcctggtgc aactcacacc
      421 tgcgcaaggc aggcacccag atcgagaaca tcgaggaaga tttccgcaat ggcctcaaac
      481 tcatgctgct cctggaggtc atttcaggtg agaggctgcc taggccagat aaaggcaaga
      541 tgcgcttcca caaaatcgcc aacgttaaca aggccctgga cttcattgcc agcaaggggg
      601 ttaaactggt gtccattggt gctgaagaga ttgttgacgg gaacctgaag atgaccctgg
      661 gcatgatctg gaccatcatc cttcgcttcg ccatccagga catctctgtg gaagaaacct
      721 cagccaagga aggcttgctt ctgtggtgcc agaggaagac agcaccgtac cgcaacgtca
      781 acgtgcagaa cttccacacc agctggaagg atggcctggc cctctgtgcc ctcatccacc
      841 gacaccgccc tgacctcatc gactacgcca aactgcgaaa ggatgacccc atcggaaacc
      901 tgaacactgc ctttgaggtg gcagagaaat acctggacat ccccaagatg ttggatgcag
      961 aagacattgt gaacacccca aagccggatg agaaggccat catgacctat gtgtcctgct
     1021 tctaccatgc ctttgccggg gctgagcagg cagagacagc tgccaacagg atctgcaagg
     1081 tgctggcagt gaaccaggaa aacgagaagc tgatggagga gtatgagaag cttgccagtg
     1141 agctgctgga gtggatccgc cgcactgtcc catggctgga gaaccgtgtg ggtgagccca
     1201 gcatgagtgc catgcagcgc aaactagagg actttcggga ctaccggcgt ctgcacaagc
     1261 cgccccgcat tcaggaaaag tgccagctgg agatcaactt caacacactg cagaccaagt
     1321 tgcggctcag ccaccggcct gccttcatgc cctccgaggg caagctggtc tcggacatcg
     1381 ccaacgcctg gcgggggctg gagcaggtgg aaaagggcta tgaggactgg ctgctctcgg
     1441 agatccggcg cctgcagcga ctccagcacc tggctgagaa gttccggcag aaggcctccc
     1501 tgcacgaagc ctggacccgg ggaaaggagg agatgctgag ccagcgcgac tacgattcgg
     1561 ctttgctaca ggaggtgcgg gcgttgctgc ggcgccacga ggcctttgag agcgacctgg
     1621 cggcgcacca ggaccgcgtg gagcacattg ccgcgctggc ccaggagctc aatgagctgg
     1681 actaccacga ggcagcctca gtgaatagcc gctgccaggc catctgcgat cagtgggaca
     1741 acctgggcac cctgacccag aagaggcggg atgcgctaga gcggatggag aagctcctgg
     1801 agaccattga ccggctgcaa ctggagtttg cccggcgggc cgcgcccttc aacaactggc
     1861 tggatggtgc cgtggaggac ctgcaggacg tgtggctggt acactctgtg gaggagaccc
     1921 agagcctgct gacagcgcac gatcagttca aggcaacact gcccgaggct gaccgagagc
     1981 gaggtgccat catgggcatc cagggtgaga tccagaagat ctgccagacg tatgggctgc
     2041 ggccctgctc caccaatccc tacatcaccc tcagcccgca ggacatcaac accaagtggg
     2101 atatggtccg aaagctggtg cccagctgtg accagacact gcaggaggag ctggcacggc
     2161 agcaggtaaa cgagaggctc cggcgacagt ttgcggccca ggccaatgcc attggaccct
     2221 ggatccaggc gaaggtggag gaagtggggc ggctggcagc agggctagct ggctctctgg
     2281 aggagcagat ggctgggcta cggcagcagg agcagaacat tatcaactac aagactaaca
     2341 ttgaccggct ggagggtgac caccagctgc tgcaggagag cctggtgttc gacaataagc
     2401 acaccgtcta cagcatggag cacatccgcg tgggctggga gcagctgctc acctccattg
     2461 cccgcaccat caatgaagtg gagaaccagg tactgacccg agacgccaag ggactgagcc
     2521 aggagcagct caacgagttc cgagcatcct tcaaccactt tgacaggaag cagaatggga
     2581 tgatggagcc tgatgacttc cgagcttgcc tcatctccat gggctatgac ctgggggaag
     2641 tggagtttgc tcgcatcatg accatggtgg accccaacgc agctggggtg gtgaccttcc
     2701 aggccttcat agacttcatg acccgagaga cagccgagac tgacacgact gagcaagttg
     2761 tagcttcctt caagatcttg gcaggagaca agaactacat cacccccgag gagctgcggc
     2821 gcgagctccc tgccaagcag gccgagtact gcatccgccg tatggtgccc tacaagggat
     2881 ccggggcccc ggctggagcc ctggactacg tggccttctc cagtgccctc tatggggaga
     2941 gcgacctttg accccaacca ctgaggttct ctatgcaaga tggagagagg atgcaccctg
     3001 tggctgatcc catccgtccc tcggagcaag ggcctaagag aaaagccagc caagtgcttc
     3061 tgaataaaga tccctctctg ggtctctccc ca
//
