LOCUS       NM_001104               2882 bp    mRNA    linear   PRI 27-APR-2025
DEFINITION  Homo sapiens actinin alpha 3 (ACTN3), transcript variant 1, coding,
            mRNA.
ACCESSION   NM_001104
VERSION     NM_001104.4
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 2882)
  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 2882)
  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 2882)
  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 2882)
  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 2882)
  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 2882)
  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 2882)
  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 2882)
  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 2882)
  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 2882)
  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 AK125851.1, DA915904.1,
            AP002748.4, BC099647.3, AK303044.1 and AJ346025.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_001104.3.
            
            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 (1, coding) represents the
            protein-coding allele and encodes 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 :: AK313556.1, M86407.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2148093
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000513398.2/ ENSP00000426797.1
            polymorphic pseudogene :: PMID: 10192379
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-104               AK125851.1         630-733
            105-454             DA915904.1         169-518
            455-1602            AK125851.1         1051-2198
            1603-1603           AP002748.4         133364-133364
            1604-1916           BC099647.3         1587-1899
            1917-1917           AP002748.4         134410-134410
            1918-2361           BC099647.3         1901-2344
            2362-2362           AP002748.4         135423-135423
            2363-2874           AK303044.1         2573-3084
            2875-2877           AJ346025.1         332-334
            2878-2882           AP002748.4         136492-136496
FEATURES             Location/Qualifiers
     source          1..2882
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q13.2"
     gene            1..2882
                     /gene="ACTN3"
                     /gene_synonym="ACTN3D"
                     /note="actinin alpha 3"
                     /db_xref="GeneID:89"
                     /db_xref="HGNC:HGNC:165"
                     /db_xref="MIM:102574"
     exon            1..182
                     /gene="ACTN3"
                     /gene_synonym="ACTN3D"
                     /inference="alignment:Splign:2.1.0"
     CDS             36..2741
                     /gene="ACTN3"
                     /gene_synonym="ACTN3D"
                     /note="isoform 1 is encoded by transcript variant 1,
                     coding; F-actin cross-linking protein; alpha-actinin
                     skeletal muscle"
                     /codon_start=1
                     /product="alpha-actinin-3 isoform 1"
                     /protein_id="NP_001095.2"
                     /db_xref="CCDS:CCDS53663.1"
                     /db_xref="GeneID:89"
                     /db_xref="HGNC:HGNC:165"
                     /db_xref="MIM:102574"
                     /translation="MMMVMQPEGLGAGEGRFAGGGGGGEYMEQEEDWDRDLLLDPAWE
                     KQQRKTFTAWCNSHLRKAGTQIENIEEDFRNGLKLMLLLEVISGERLPRPDKGKMRFH
                     KIANVNKALDFIASKGVKLVSIGAEEIVDGNLKMTLGMIWTIILRFAIQDISVEETSA
                     KEGLLLWCQRKTAPYRNVNVQNFHTSWKDGLALCALIHRHRPDLIDYAKLRKDDPIGN
                     LNTAFEVAEKYLDIPKMLDAEDIVNTPKPDEKAIMTYVSCFYHAFAGAEQAETAANRI
                     CKVLAVNQENEKLMEEYEKLASELLEWIRRTVPWLENRVGEPSMSAMQRKLEDFRDYR
                     RLHKPPRIQEKCQLEINFNTLQTKLRLSHRPAFMPSEGKLVSDIANAWRGLEQVEKGY
                     EDWLLSEIRRLQRLQHLAEKFRQKASLHEAWTRGKEEMLSQRDYDSALLQEVRALLRR
                     HEAFESDLAAHQDRVEHIAALAQELNELDYHEAASVNSRCQAICDQWDNLGTLTQKRR
                     DALERMEKLLETIDRLQLEFARRAAPFNNWLDGAVEDLQDVWLVHSVEETQSLLTAHD
                     QFKATLPEADRERGAIMGIQGEIQKICQTYGLRPCSTNPYITLSPQDINTKWDMVRKL
                     VPSCDQTLQEELARQQVNERLRRQFAAQANAIGPWIQAKVEEVGRLAAGLAGSLEEQM
                     AGLRQQEQNIINYKTNIDRLEGDHQLLQESLVFDNKHTVYSMEHIRVGWEQLLTSIAR
                     TINEVENQVLTRDAKGLSQEQLNEFRASFNHFDRKQNGMMEPDDFRACLISMGYDLGE
                     VEFARIMTMVDPNAAGVVTFQAFIDFMTRETAETDTTEQVVASFKILAGDKNYITPEE
                     LRRELPAKQAEYCIRRMVPYKGSGAPAGALDYVAFSSALYGESDL"
     exon            183..297
                     /gene="ACTN3"
                     /gene_synonym="ACTN3D"
                     /inference="alignment:Splign:2.1.0"
     exon            298..417
                     /gene="ACTN3"
                     /gene_synonym="ACTN3D"
                     /inference="alignment:Splign:2.1.0"
     exon            418..504
                     /gene="ACTN3"
                     /gene_synonym="ACTN3D"
                     /inference="alignment:Splign:2.1.0"
     exon            505..592
                     /gene="ACTN3"
                     /gene_synonym="ACTN3D"
                     /inference="alignment:Splign:2.1.0"
     exon            593..671
                     /gene="ACTN3"
                     /gene_synonym="ACTN3D"
                     /inference="alignment:Splign:2.1.0"
     exon            672..753
                     /gene="ACTN3"
                     /gene_synonym="ACTN3D"
                     /inference="alignment:Splign:2.1.0"
     exon            754..839
                     /gene="ACTN3"
                     /gene_synonym="ACTN3D"
                     /inference="alignment:Splign:2.1.0"
     exon            840..932
                     /gene="ACTN3"
                     /gene_synonym="ACTN3D"
                     /inference="alignment:Splign:2.1.0"
     exon            933..1163
                     /gene="ACTN3"
                     /gene_synonym="ACTN3D"
                     /inference="alignment:Splign:2.1.0"
     exon            1164..1311
                     /gene="ACTN3"
                     /gene_synonym="ACTN3D"
                     /inference="alignment:Splign:2.1.0"
     exon            1312..1462
                     /gene="ACTN3"
                     /gene_synonym="ACTN3D"
                     /inference="alignment:Splign:2.1.0"
     exon            1463..1571
                     /gene="ACTN3"
                     /gene_synonym="ACTN3D"
                     /inference="alignment:Splign:2.1.0"
     exon            1572..1712
                     /gene="ACTN3"
                     /gene_synonym="ACTN3D"
                     /inference="alignment:Splign:2.1.0"
     exon            1713..1895
                     /gene="ACTN3"
                     /gene_synonym="ACTN3D"
                     /inference="alignment:Splign:2.1.0"
     exon            1896..2030
                     /gene="ACTN3"
                     /gene_synonym="ACTN3D"
                     /inference="alignment:Splign:2.1.0"
     exon            2031..2210
                     /gene="ACTN3"
                     /gene_synonym="ACTN3D"
                     /inference="alignment:Splign:2.1.0"
     exon            2211..2357
                     /gene="ACTN3"
                     /gene_synonym="ACTN3D"
                     /inference="alignment:Splign:2.1.0"
     exon            2358..2423
                     /gene="ACTN3"
                     /gene_synonym="ACTN3D"
                     /inference="alignment:Splign:2.1.0"
     exon            2424..2582
                     /gene="ACTN3"
                     /gene_synonym="ACTN3D"
                     /inference="alignment:Splign:2.1.0"
     exon            2583..2882
                     /gene="ACTN3"
                     /gene_synonym="ACTN3D"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2853..2858
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ACTN3"
                     /gene_synonym="ACTN3D"
                     /note="hexamer: AATAAA"
     polyA_site      2882
                     /gene="ACTN3"
                     /gene_synonym="ACTN3D"
                     /note="major polyA site"
ORIGIN      
        1 gtgccgagcg gagcgaagcc aggagcccga tcgagatgat gatggttatg cagcccgagg
       61 gtctgggggc cggggagggg cgctttgcgg gcggcggcgg gggcggcgag tacatggaac
      121 aggaggagga ctgggaccgc gacctgctgc tggacccggc ctgggagaag cagcagcgga
      181 aaaccttcac tgcctggtgc aactcacacc tgcgcaaggc aggcacccag atcgagaaca
      241 tcgaggaaga tttccgcaat ggcctcaaac tcatgctgct cctggaggtc atttcaggtg
      301 agaggctgcc taggccagat aaaggcaaga tgcgcttcca caaaatcgcc aacgttaaca
      361 aggccctgga cttcattgcc agcaaggggg ttaaactggt gtccattggt gctgaagaga
      421 ttgttgacgg gaacctgaag atgaccctgg gcatgatctg gaccatcatc cttcgcttcg
      481 ccatccagga catctctgtg gaagaaacct cagccaagga aggcttgctt ctgtggtgcc
      541 agaggaagac agcaccgtac cgcaacgtca acgtgcagaa cttccacacc agctggaagg
      601 atggcctggc cctctgtgcc ctcatccacc gacaccgccc tgacctcatc gactacgcca
      661 aactgcgaaa ggatgacccc atcggaaacc tgaacactgc ctttgaggtg gcagagaaat
      721 acctggacat ccccaagatg ttggatgcag aagacattgt gaacacccca aagccggatg
      781 agaaggccat catgacctat gtgtcctgct tctaccatgc ctttgccggg gctgagcagg
      841 cagagacagc tgccaacagg atctgcaagg tgctggcagt gaaccaggaa aacgagaagc
      901 tgatggagga gtatgagaag cttgccagtg agctgctgga gtggatccgc cgcactgtcc
      961 catggctgga gaaccgtgtg ggtgagccca gcatgagtgc catgcagcgc aaactagagg
     1021 actttcggga ctaccggcgt ctgcacaagc cgccccgcat tcaggaaaag tgccagctgg
     1081 agatcaactt caacacactg cagaccaagt tgcggctcag ccaccggcct gccttcatgc
     1141 cctccgaggg caagctggtc tcggacatcg ccaacgcctg gcgggggctg gagcaggtgg
     1201 aaaagggcta tgaggactgg ctgctctcgg agatccggcg cctgcagcga ctccagcacc
     1261 tggctgagaa gttccggcag aaggcctccc tgcacgaagc ctggacccgg ggaaaggagg
     1321 agatgctgag ccagcgcgac tacgattcgg ctttgctaca ggaggtgcgg gcgttgctgc
     1381 ggcgccacga ggcctttgag agcgacctgg cggcgcacca ggaccgcgtg gagcacattg
     1441 ccgcgctggc ccaggagctc aatgagctgg actaccacga ggcagcctca gtgaatagcc
     1501 gctgccaggc catctgcgat cagtgggaca acctgggcac cctgacccag aagaggcggg
     1561 atgcgctaga gcggatggag aagctcctgg agaccattga ccggctgcaa ctggagtttg
     1621 cccggcgggc cgcgcccttc aacaactggc tggatggtgc cgtggaggac ctgcaggacg
     1681 tgtggctggt acactctgtg gaggagaccc agagcctgct gacagcgcac gatcagttca
     1741 aggcaacact gcccgaggct gaccgagagc gaggtgccat catgggcatc cagggtgaga
     1801 tccagaagat ctgccagacg tatgggctgc ggccctgctc caccaatccc tacatcaccc
     1861 tcagcccgca ggacatcaac accaagtggg atatggtccg aaagctggtg cccagctgtg
     1921 accagacact gcaggaggag ctggcacggc agcaggtaaa cgagaggctc cggcgacagt
     1981 ttgcggccca ggccaatgcc attggaccct ggatccaggc gaaggtggag gaagtggggc
     2041 ggctggcagc agggctagct ggctctctgg aggagcagat ggctgggcta cggcagcagg
     2101 agcagaacat tatcaactac aagactaaca ttgaccggct ggagggtgac caccagctgc
     2161 tgcaggagag cctggtgttc gacaataagc acaccgtcta cagcatggag cacatccgcg
     2221 tgggctggga gcagctgctc acctccattg cccgcaccat caatgaagtg gagaaccagg
     2281 tactgacccg agacgccaag ggactgagcc aggagcagct caacgagttc cgagcatcct
     2341 tcaaccactt tgacaggaag cagaatggga tgatggagcc tgatgacttc cgagcttgcc
     2401 tcatctccat gggctatgac ctgggggaag tggagtttgc tcgcatcatg accatggtgg
     2461 accccaacgc agctggggtg gtgaccttcc aggccttcat agacttcatg acccgagaga
     2521 cagccgagac tgacacgact gagcaagttg tagcttcctt caagatcttg gcaggagaca
     2581 agaactacat cacccccgag gagctgcggc gcgagctccc tgccaagcag gccgagtact
     2641 gcatccgccg tatggtgccc tacaagggat ccggggcccc ggctggagcc ctggactacg
     2701 tggccttctc cagtgccctc tatggggaga gcgacctttg accccaacca ctgaggttct
     2761 ctatgcaaga tggagagagg atgcaccctg tggctgatcc catccgtccc tcggagcaag
     2821 ggcctaagag aaaagccagc caagtgcttc tgaataaaga tccctctctg ggtctctccc
     2881 ca
//
