LOCUS       NM_005159               1382 bp    mRNA    linear   PRI 09-FEB-2025
DEFINITION  Homo sapiens actin alpha cardiac muscle 1 (ACTC1), transcript
            variant 1, mRNA.
ACCESSION   NM_005159
VERSION     NM_005159.5
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 1382)
  AUTHORS   Chong,J.X., Childers,M.C., Marvin,C.T., Marcello,A.J.,
            Gonorazky,H., Hazrati,L.N., Dowling,J.J., Al Amrani,F., Alanay,Y.,
            Nieto,Y., Gabriel,M.A.M., Aylsworth,A.S., Buckingham,K.J.,
            Shively,K.M., Sommers,O., Anderson,K., Regnier,M. and Bamshad,M.J.
  CONSRTM   University of Washington Center for Mendelian Genomics; University
            of Washington Center for Rare Disease Research
  TITLE     Variants in ACTC1 underlie distal arthrogryposis accompanied by
            congenital heart defects
  JOURNAL   HGG Adv 4 (3), 100213 (2023)
   PUBMED   37457373
  REMARK    GeneRIF: Variants in ACTC1 underlie distal arthrogryposis
            accompanied by congenital heart defects.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1382)
  AUTHORS   Landim-Vieira,M., Ma,W., Song,T., Rastegarpouyani,H., Gong,H.,
            Coscarella,I.L., Bogaards,S.J.P., Conijn,S.P., Ottenheijm,C.A.C.,
            Hwang,H.S., Papadaki,M., Knollmann,B.C., Sadayappan,S.,
            Irving,T.C., Galkin,V.E., Chase,P.B. and Pinto,J.R.
  TITLE     Cardiac troponin T N-domain variant destabilizes the actin
            interface resulting in disturbed myofilament function
  JOURNAL   Proc Natl Acad Sci U S A 120 (23), e2221244120 (2023)
   PUBMED   37252999
  REMARK    GeneRIF: Cardiac troponin T N-domain variant destabilizes the actin
            interface resulting in disturbed myofilament function.
REFERENCE   3  (bases 1 to 1382)
  AUTHORS   Toledano-Delgado,F.J., Jimenez-Alcantara,I., Cobo-Molinos,J.,
            Carrasco-Avalos,F., Mazuelos,F. and Urbano-Moral,J.A.
  TITLE     Description of a Novel Cardiac Phenotype Associated With a Missense
            Variant in the Cardiac alpha-Actin (ACTC1) Gene
  JOURNAL   Circ Genom Precis Med 16 (2), e003963 (2023)
   PUBMED   36960733
  REMARK    GeneRIF: Description of a Novel Cardiac Phenotype Associated With a
            Missense Variant in the Cardiac alpha-Actin (ACTC1) Gene.
REFERENCE   4  (bases 1 to 1382)
  AUTHORS   Nazeer,N.U., Bhat,M.A., Rah,B., Bhat,G.R., Wani,S.I., Yousuf,A.,
            Dar,A.M. and Afroze,D.
  TITLE     Mutational Assessment in NKX2-5 and ACTC1 Genes in Patients with
            Congenital Cardiac Septal Defect (CCSD) from Ethnic Kashmiri
            Population
  JOURNAL   Int J Environ Res Public Health 19 (16), 9884 (2022)
   PUBMED   36011517
  REMARK    GeneRIF: Mutational Assessment in NKX2-5 and ACTC1 Genes in
            Patients with Congenital Cardiac Septal Defect (CCSD) from Ethnic
            Kashmiri Population.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1382)
  AUTHORS   Cirino,A.L. and Ho,C.
  TITLE     Hypertrophic Cardiomyopathy Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301725
REFERENCE   6  (bases 1 to 1382)
  AUTHORS   Hershberger,R.E. and Jordan,E.
  TITLE     Dilated Cardiomyopathy Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301486
REFERENCE   7  (bases 1 to 1382)
  AUTHORS   Kramer,P.L., Luty,J.A. and Litt,M.
  TITLE     Regional localization of the gene for cardiac muscle actin (ACTC)
            on chromosome 15q
  JOURNAL   Genomics 13 (3), 904-905 (1992)
   PUBMED   1639426
REFERENCE   8  (bases 1 to 1382)
  AUTHORS   Dawson,S.J. and White,L.A.
  TITLE     Treatment of Haemophilus aphrophilus endocarditis with
            ciprofloxacin
  JOURNAL   J Infect 24 (3), 317-320 (1992)
   PUBMED   1602151
REFERENCE   9  (bases 1 to 1382)
  AUTHORS   Watkins,C., Bodfish,P., Warne,D., Nyberg,K. and Spurr,N.K.
  TITLE     Dinucleotide repeat polymorphism in the human alpha-cardiac actin
            gene, intron IV (ACTC), detected using the polymerase chain
            reaction
  JOURNAL   Nucleic Acids Res 19 (24), 6980 (1991)
   PUBMED   1762945
REFERENCE   10 (bases 1 to 1382)
  AUTHORS   Elzinga,M., Maron,B.J. and Adelstein,R.S.
  TITLE     Human heart and platelet actins are products of different genes
  JOURNAL   Science 191 (4222), 94-95 (1976)
   PUBMED   1246600
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC009978.2.
            
            On May 9, 2019 this sequence version replaced NM_005159.4.
            
            Summary: Actins are highly conserved proteins that are involved in
            various types of cell motility. Polymerization of globular actin
            (G-actin) leads to a structural filament (F-actin) in the form of a
            two-stranded helix. Each actin can bind to four others. The protein
            encoded by this gene belongs to the actin family which is comprised
            of three main groups of actin isoforms, alpha, beta, and gamma. The
            alpha actins are found in muscle tissues and are a major
            constituent of the contractile apparatus. Defects in this gene have
            been associated with idiopathic dilated cardiomyopathy (IDC) and
            familial hypertrophic cardiomyopathy (FHC). [provided by RefSeq,
            Jul 2008].
            
            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 :: BC009978.2, AK129902.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2155550, SAMEA2159607
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000290378.6/ ENSP00000290378.4
            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
            1-1382              BC009978.2         140-1521
FEATURES             Location/Qualifiers
     source          1..1382
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q14"
     gene            1..1382
                     /gene="ACTC1"
                     /gene_synonym="ACTC; ASD5; CMD1R; CMH11; LVNC4"
                     /note="actin alpha cardiac muscle 1"
                     /db_xref="GeneID:70"
                     /db_xref="HGNC:HGNC:143"
                     /db_xref="MIM:102540"
     exon            1..44
                     /gene="ACTC1"
                     /gene_synonym="ACTC; ASD5; CMD1R; CMH11; LVNC4"
                     /inference="alignment:Splign:2.1.0"
     exon            45..195
                     /gene="ACTC1"
                     /gene_synonym="ACTC; ASD5; CMD1R; CMH11; LVNC4"
                     /inference="alignment:Splign:2.1.0"
     CDS             67..1200
                     /gene="ACTC1"
                     /gene_synonym="ACTC; ASD5; CMD1R; CMH11; LVNC4"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /codon_start=1
                     /product="actin, alpha cardiac muscle 1 isoform 1"
                     /protein_id="NP_005150.1"
                     /db_xref="CCDS:CCDS10041.1"
                     /db_xref="GeneID:70"
                     /db_xref="HGNC:HGNC:143"
                     /db_xref="MIM:102540"
                     /translation="MCDDEETTALVCDNGSGLVKAGFAGDDAPRAVFPSIVGRPRHQG
                     VMVGMGQKDSYVGDEAQSKRGILTLKYPIEHGIITNWDDMEKIWHHTFYNELRVAPEE
                     HPTLLTEAPLNPKANREKMTQIMFETFNVPAMYVAIQAVLSLYASGRTTGIVLDSGDG
                     VTHNVPIYEGYALPHAIMRLDLAGRDLTDYLMKILTERGYSFVTTAEREIVRDIKEKL
                     CYVALDFENEMATAASSSSLEKSYELPDGQVITIGNERFRCPETLFQPSFIGMESAGI
                     HETTYNSIMKCDIDIRKDLYANNVLSGGTTMYPGIADRMQKEITALAPSTMKIKIIAP
                     PERKYSVWIGGSILASLSTFQQMWISKQEYDEAGPSIVHRKCF"
     exon            196..520
                     /gene="ACTC1"
                     /gene_synonym="ACTC; ASD5; CMD1R; CMH11; LVNC4"
                     /inference="alignment:Splign:2.1.0"
     exon            521..682
                     /gene="ACTC1"
                     /gene_synonym="ACTC; ASD5; CMD1R; CMH11; LVNC4"
                     /inference="alignment:Splign:2.1.0"
     exon            683..874
                     /gene="ACTC1"
                     /gene_synonym="ACTC; ASD5; CMD1R; CMH11; LVNC4"
                     /inference="alignment:Splign:2.1.0"
     exon            875..1056
                     /gene="ACTC1"
                     /gene_synonym="ACTC; ASD5; CMD1R; CMH11; LVNC4"
                     /inference="alignment:Splign:2.1.0"
     exon            1057..1382
                     /gene="ACTC1"
                     /gene_synonym="ACTC; ASD5; CMD1R; CMH11; LVNC4"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1355..1360
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ACTC1"
                     /gene_synonym="ACTC; ASD5; CMD1R; CMH11; LVNC4"
                     /note="hexamer: AATAAA"
     polyA_site      1382
                     /gene="ACTC1"
                     /gene_synonym="ACTC; ASD5; CMD1R; CMH11; LVNC4"
                     /note="major polyA site"
ORIGIN      
        1 agagcccgct gccgccggag ccgagccgac ccgccccgcc gacgaacccc ctgaagctgt
       61 gccaagatgt gtgacgacga ggagaccacc gccctggtgt gcgacaacgg ctctgggctg
      121 gtgaaggccg gctttgcggg cgatgacgcg ccccgcgctg tcttcccgtc catcgtgggc
      181 cgcccgcggc accagggagt tatggtgggt atgggtcaga aggactccta cgtaggtgat
      241 gaagcccaga gcaagagagg catcctgacc ctgaagtatc ccatcgagca tggtatcatc
      301 accaactggg acgacatgga gaagatctgg caccacacct tctacaatga gctccgtgtg
      361 gctcccgagg agcaccccac cctgctcaca gaggccccgc tgaaccccaa ggccaaccgg
      421 gagaagatga ctcagatcat gtttgagacc ttcaatgtcc ctgccatgta cgtggccatc
      481 caggcagtgc tatccctgta tgcttctggc cgtaccacag gcattgttct ggactctggg
      541 gatggtgtaa ctcacaatgt ccccatctat gagggctacg ctttgcccca tgccatcatg
      601 cgtctggatc tggctggtcg ggacctcact gactacctca tgaagatcct cactgagcgt
      661 ggctactcct ttgtcaccac tgctgaacgt gaaattgtcc gtgacattaa agagaagctg
      721 tgctatgtcg ccctggattt tgagaatgag atggccacag ctgcctcttc ctcctccctg
      781 gagaagagct atgaactgcc tgatggccaa gtcatcacta ttggcaatga gcgcttccgc
      841 tgtcctgaga cactcttcca gccctccttc attggtatgg aatctgctgg catccatgaa
      901 acaacttaca atagcatcat gaagtgtgac attgatatcc gcaaggacct gtatgccaac
      961 aatgtcttat ctggaggcac cactatgtac cctggtattg ctgatcgtat gcagaaggaa
     1021 atcactgctc tggctcctag caccatgaag attaagatta ttgctccccc tgagcgtaaa
     1081 tactctgtct ggattggggg ctccatcctg gcctctctgt ccaccttcca gcaaatgtgg
     1141 attagcaagc aagagtacga tgaggcaggc ccatccattg tccaccgcaa atgcttctaa
     1201 gatgccttct ctctccatct accttccagt caggatgacg gtattatgct tcttggagtc
     1261 ttccaaacca ccttccctca tctttcatca atcattgtac agtttgttta cacacgtgca
     1321 atttgtttgt gcttctaata tttattgctt tataaataaa ccagaccagg acttgcaacc
     1381 ta
//
