LOCUS       NM_001100               1491 bp    mRNA    linear   PRI 05-OCT-2024
DEFINITION  Homo sapiens actin alpha 1, skeletal muscle (ACTA1), mRNA.
ACCESSION   NM_001100
VERSION     NM_001100.4
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 1491)
  AUTHORS   Lehtokari,V.L., Sagath,L., Davis,M., Ho,D., Kiiski,K., Kettunen,K.,
            Demczko,M., Stein,R., Vatta,M., Winder,T.L., Shohet,A.,
            Orenstein,N., Krcho,P., Bohus,P., Huovinen,S., Udd,B., Pelin,K.,
            Laing,N.G. and Wallgren-Pettersson,C.
  TITLE     A recurrent ACTA1 amino acid change in mosaic form causes milder
            asymmetric myopathy
  JOURNAL   Neuromuscul Disord 34, 32-40 (2024)
   PUBMED   38142473
  REMARK    GeneRIF: A recurrent ACTA1 amino acid change in mosaic form causes
            milder asymmetric myopathy.
REFERENCE   2  (bases 1 to 1491)
  AUTHORS   Tinklenberg,J.A., Slick,R.A., Sutton,J., Zhang,L., Meng,H.,
            Beatka,M.J., Vanden Avond,M., Prom,M.J., Ott,E., Montanaro,F.,
            Heisner,J., Toro,R., Hardeman,E.C., Geurts,A.M., Stowe,D.F.,
            Hill,R.B. and Lawlor,M.W.
  TITLE     Different Mouse Models of Nemaline Myopathy Harboring Acta1
            Mutations Display Differing Abnormalities Related to Mitochondrial
            Biology
  JOURNAL   Am J Pathol 193 (10), 1548-1567 (2023)
   PUBMED   37419385
  REMARK    GeneRIF: Different Mouse Models of Nemaline Myopathy Harboring
            Acta1 Mutations Display Differing Abnormalities Related to
            Mitochondrial Biology.
REFERENCE   3  (bases 1 to 1491)
  AUTHORS   Mulvany-Robbins,B., Putko,B., Schmitt,L., Oudit,G., Phan,C. and
            Beecher,G.
  TITLE     Novel p.Asp27Glu ACTA1 variant features congenital myopathy with
            finger flexor weakness, cardiomyopathy, and cardiac conduction
            defects
  JOURNAL   Neuromuscul Disord 33 (7), 546-550 (2023)
   PUBMED   37315422
  REMARK    GeneRIF: Novel p.Asp27Glu ACTA1 variant features congenital
            myopathy with finger flexor weakness, cardiomyopathy, and cardiac
            conduction defects.
REFERENCE   4  (bases 1 to 1491)
  AUTHORS   Sakaguchi,M., Nakajima,R., Ichinose,T., Tanaka,S., Kimura,R.,
            Sabit,H., Nakada,S. and Nakada,M.
  TITLE     alpha-SMA positive vascular mural cells suppress cyst formation in
            hemangioblastoma
  JOURNAL   Brain Tumor Pathol 40 (3), 176-184 (2023)
   PUBMED   37273000
  REMARK    GeneRIF: alpha-SMA positive vascular mural cells suppress cyst
            formation in hemangioblastoma.
REFERENCE   5  (bases 1 to 1491)
  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
REFERENCE   6  (bases 1 to 1491)
  AUTHORS   DeChene,E.T., Kang,P.B. and Beggs,A.H.
  TITLE     Congenital Fiber-Type Disproportion - 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   20301436
REFERENCE   7  (bases 1 to 1491)
  AUTHORS   van der Ven,P.F., Schaart,G., Jap,P.H., Sengers,R.C.,
            Stadhouders,A.M. and Ramaekers,F.C.
  TITLE     Differentiation of human skeletal muscle cells in culture:
            maturation as indicated by titin and desmin striation
  JOURNAL   Cell Tissue Res 270 (1), 189-198 (1992)
   PUBMED   1423520
REFERENCE   8  (bases 1 to 1491)
  AUTHORS   Levine,B.A., Moir,A.J., Patchell,V.B. and Perry,S.V.
  TITLE     Binding sites involved in the interaction of actin with the
            N-terminal region of dystrophin
  JOURNAL   FEBS Lett 298 (1), 44-48 (1992)
   PUBMED   1544421
REFERENCE   9  (bases 1 to 1491)
  AUTHORS   Taylor,A., Erba,H.P., Muscat,G.E. and Kedes,L.
  TITLE     Nucleotide sequence and expression of the human skeletal
            alpha-actin gene: evolution of functional regulatory domains
  JOURNAL   Genomics 3 (4), 323-336 (1988)
   PUBMED   2907503
REFERENCE   10 (bases 1 to 1491)
  AUTHORS   Ogawa,H., Shiraki,H., Matsuda,Y. and Nakagawa,H.
  TITLE     Interaction of adenylosuccinate synthetase with F-actin
  JOURNAL   Eur J Biochem 85 (2), 331-337 (1978)
   PUBMED   648524
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL598491.1, BC012597.1 and
            BX648545.1.
            
            On Aug 31, 2019 this sequence version replaced NM_001100.3.
            
            Summary: The product encoded by this gene belongs to the actin
            family of proteins, which are highly conserved proteins that play a
            role in cell motility, structure and integrity. Alpha, beta and
            gamma actin isoforms have been identified, with alpha actins being
            a major constituent of the contractile apparatus, while beta and
            gamma actins are involved in the regulation of cell motility. This
            actin is an alpha actin that is found in skeletal muscle. Mutations
            in this gene cause a variety of myopathies, including nemaline
            myopathy, congenital myopathy with excess of thin myofilaments,
            congenital myopathy with cores, and congenital myopathy with
            fiber-type disproportion, diseases that lead to muscle fiber
            defects with manifestations such as hypotonia. [provided by RefSeq,
            Sep 2019].
            
            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 :: BC012597.1, J00068.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000366684.7/ ENSP00000355645.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-39                AL598491.1         7-45
            40-1487             BC012597.1         44-1491
            1488-1491           BX648545.1         1219-1222
FEATURES             Location/Qualifiers
     source          1..1491
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q42.13"
     gene            1..1491
                     /gene="ACTA1"
                     /gene_synonym="ACTA; ASMA; CFTD; CFTD1; CFTDM; CMYO2A;
                     CMYO2B; CMYO2C; CMYP2A; CMYP2B; CMYP2C; MPFD; NEM1; NEM2;
                     NEM3; SHPM"
                     /note="actin alpha 1, skeletal muscle"
                     /db_xref="GeneID:58"
                     /db_xref="HGNC:HGNC:129"
                     /db_xref="MIM:102610"
     exon            1..91
                     /gene="ACTA1"
                     /gene_synonym="ACTA; ASMA; CFTD; CFTD1; CFTDM; CMYO2A;
                     CMYO2B; CMYO2C; CMYP2A; CMYP2B; CMYP2C; MPFD; NEM1; NEM2;
                     NEM3; SHPM"
                     /inference="alignment:Splign:2.1.0"
     exon            92..232
                     /gene="ACTA1"
                     /gene_synonym="ACTA; ASMA; CFTD; CFTD1; CFTDM; CMYO2A;
                     CMYO2B; CMYO2C; CMYP2A; CMYP2B; CMYP2C; MPFD; NEM1; NEM2;
                     NEM3; SHPM"
                     /inference="alignment:Splign:2.1.0"
     CDS             104..1237
                     /gene="ACTA1"
                     /gene_synonym="ACTA; ASMA; CFTD; CFTD1; CFTDM; CMYO2A;
                     CMYO2B; CMYO2C; CMYP2A; CMYP2B; CMYP2C; MPFD; NEM1; NEM2;
                     NEM3; SHPM"
                     /note="nemaline myopathy type 3"
                     /codon_start=1
                     /product="actin, alpha skeletal muscle"
                     /protein_id="NP_001091.1"
                     /db_xref="CCDS:CCDS1578.1"
                     /db_xref="GeneID:58"
                     /db_xref="HGNC:HGNC:129"
                     /db_xref="MIM:102610"
                     /translation="MCDEDETTALVCDNGSGLVKAGFAGDDAPRAVFPSIVGRPRHQG
                     VMVGMGQKDSYVGDEAQSKRGILTLKYPIEHGIITNWDDMEKIWHHTFYNELRVAPEE
                     HPTLLTEAPLNPKANREKMTQIMFETFNVPAMYVAIQAVLSLYASGRTTGIVLDSGDG
                     VTHNVPIYEGYALPHAIMRLDLAGRDLTDYLMKILTERGYSFVTTAEREIVRDIKEKL
                     CYVALDFENEMATAASSSSLEKSYELPDGQVITIGNERFRCPETLFQPSFIGMESAGI
                     HETTYNSIMKCDIDIRKDLYANNVMSGGTTMYPGIADRMQKEITALAPSTMKIKIIAP
                     PERKYSVWIGGSILASLSTFQQMWITKQEYDEAGPSIVHRKCF"
     exon            233..557
                     /gene="ACTA1"
                     /gene_synonym="ACTA; ASMA; CFTD; CFTD1; CFTDM; CMYO2A;
                     CMYO2B; CMYO2C; CMYP2A; CMYP2B; CMYP2C; MPFD; NEM1; NEM2;
                     NEM3; SHPM"
                     /inference="alignment:Splign:2.1.0"
     exon            558..719
                     /gene="ACTA1"
                     /gene_synonym="ACTA; ASMA; CFTD; CFTD1; CFTDM; CMYO2A;
                     CMYO2B; CMYO2C; CMYP2A; CMYP2B; CMYP2C; MPFD; NEM1; NEM2;
                     NEM3; SHPM"
                     /inference="alignment:Splign:2.1.0"
     exon            720..911
                     /gene="ACTA1"
                     /gene_synonym="ACTA; ASMA; CFTD; CFTD1; CFTDM; CMYO2A;
                     CMYO2B; CMYO2C; CMYP2A; CMYP2B; CMYP2C; MPFD; NEM1; NEM2;
                     NEM3; SHPM"
                     /inference="alignment:Splign:2.1.0"
     exon            912..1093
                     /gene="ACTA1"
                     /gene_synonym="ACTA; ASMA; CFTD; CFTD1; CFTDM; CMYO2A;
                     CMYO2B; CMYO2C; CMYP2A; CMYP2B; CMYP2C; MPFD; NEM1; NEM2;
                     NEM3; SHPM"
                     /inference="alignment:Splign:2.1.0"
     exon            1094..1491
                     /gene="ACTA1"
                     /gene_synonym="ACTA; ASMA; CFTD; CFTD1; CFTDM; CMYO2A;
                     CMYO2B; CMYO2C; CMYP2A; CMYP2B; CMYP2C; MPFD; NEM1; NEM2;
                     NEM3; SHPM"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1423..1428
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ACTA1"
                     /gene_synonym="ACTA; ASMA; CFTD; CFTD1; CFTDM; CMYO2A;
                     CMYO2B; CMYO2C; CMYP2A; CMYP2B; CMYP2C; MPFD; NEM1; NEM2;
                     NEM3; SHPM"
                     /note="hexamer: AACAAA"
     polyA_site      1439
                     /gene="ACTA1"
                     /gene_synonym="ACTA; ASMA; CFTD; CFTD1; CFTDM; CMYO2A;
                     CMYO2B; CMYO2C; CMYP2A; CMYP2B; CMYP2C; MPFD; NEM1; NEM2;
                     NEM3; SHPM"
     regulatory      1463..1468
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ACTA1"
                     /gene_synonym="ACTA; ASMA; CFTD; CFTD1; CFTDM; CMYO2A;
                     CMYO2B; CMYO2C; CMYP2A; CMYP2B; CMYP2C; MPFD; NEM1; NEM2;
                     NEM3; SHPM"
                     /note="hexamer: ATTAAA"
     polyA_site      1491
                     /gene="ACTA1"
                     /gene_synonym="ACTA; ASMA; CFTD; CFTD1; CFTDM; CMYO2A;
                     CMYO2B; CMYO2C; CMYP2A; CMYP2B; CMYP2C; MPFD; NEM1; NEM2;
                     NEM3; SHPM"
                     /note="major polyA site"
ORIGIN      
        1 accgcagcgg acagcgccaa gtgaagcctc gcttcccctc cgcggcgacc agggcccgag
       61 ccgagagtag cagttgtagc tacccgccca gaaactagac acaatgtgcg acgaagacga
      121 gaccaccgcc ctcgtgtgcg acaatggctc cggcctggtg aaagccggct tcgccgggga
      181 tgacgcccct agggccgtgt tcccgtccat cgtgggccgc ccccgacacc agggcgtcat
      241 ggtcggtatg ggtcagaaag attcctacgt gggcgacgag gctcagagca agagaggtat
      301 cctgaccctg aagtacccta tcgagcacgg catcatcacc aactgggatg acatggagaa
      361 gatctggcac cacaccttct acaacgagct tcgcgtggct cccgaggagc accccaccct
      421 gctcaccgag gcccccctca atcccaaggc caaccgcgag aagatgaccc agatcatgtt
      481 tgagaccttc aacgtgcccg ccatgtacgt ggccatccag gccgtgctgt ccctctacgc
      541 ctccggcagg accaccggca tcgtgctgga ctccggcgac ggcgtcaccc acaacgtgcc
      601 catttatgag ggctacgcgc tgccgcacgc catcatgcgc ctggacctgg cgggccgcga
      661 tctcaccgac tacctgatga agatcctcac tgagcgtggc tactccttcg tgaccacagc
      721 tgagcgcgag atcgtgcgcg acatcaagga gaagctgtgc tacgtggccc tggacttcga
      781 gaacgagatg gcgacggccg cctcctcctc ctccctggaa aagagctacg agctgccaga
      841 cgggcaggtc atcaccatcg gcaacgagcg cttccgctgc ccggagacgc tcttccagcc
      901 ctccttcatc ggtatggagt cggcgggcat tcacgagacc acctacaaca gcatcatgaa
      961 gtgtgacatc gacatcagga aggacctgta tgccaacaac gtcatgtcgg ggggcaccac
     1021 gatgtaccct gggatcgctg accgcatgca gaaagagatc accgcgctgg cacccagcac
     1081 catgaagatc aagatcatcg ccccgccgga gcgcaaatac tcggtgtgga tcggcggctc
     1141 catcctggcc tcgctgtcca ccttccagca gatgtggatc accaagcagg agtacgacga
     1201 ggccggccct tccatcgtcc accgcaaatg cttctagaca cactccacct ccagcacgcg
     1261 acttctcagg acgacgaatc ttctcaatgg gggggcggct gagctccagc caccccgcag
     1321 tcactttctt tgtaacaact tccgttgctg ccatcgtaaa ctgacacagt gtttataacg
     1381 tgtacataca ttaacttatt acctcatttt gttatttttc gaaacaaagc cctgtggaag
     1441 aaaatggaaa acttgaagaa gcattaaagt cattctgtta agctgcgtaa a
//
