Actin, alpha cardiac muscle 1

NameActin, alpha cardiac muscle 1
Synonyms
  • ACTC
  • Alpha-cardiac actin
Gene NameACTC1
OrganismHuman
Amino acid sequence
>lcl|BSEQ0013449|Actin, alpha cardiac muscle 1
MCDDEETTALVCDNGSGLVKAGFAGDDAPRAVFPSIVGRPRHQGVMVGMGQKDSYVGDEA
QSKRGILTLKYPIEHGIITNWDDMEKIWHHTFYNELRVAPEEHPTLLTEAPLNPKANREK
MTQIMFETFNVPAMYVAIQAVLSLYASGRTTGIVLDSGDGVTHNVPIYEGYALPHAIMRL
DLAGRDLTDYLMKILTERGYSFVTTAEREIVRDIKEKLCYVALDFENEMATAASSSSLEK
SYELPDGQVITIGNERFRCPETLFQPSFIGMESAGIHETTYNSIMKCDIDIRKDLYANNV
LSGGTTMYPGIADRMQKEITALAPSTMKIKIIAPPERKYSVWIGGSILASLSTFQQMWIS
KQEYDEAGPSIVHRKCF
Number of residues377
Molecular Weight42018.6
Theoretical pINot Available
GO Classification
Functions
  • myosin binding
  • ATP binding
  • ATPase activity
Processes
  • actin filament-based movement
  • apoptotic process
  • negative regulation of apoptotic process
  • actin-myosin filament sliding
  • actomyosin structure organization
  • heart contraction
  • cardiac muscle contraction
  • mesenchyme migration
  • skeletal muscle thin filament assembly
  • cardiac myofibril assembly
  • positive regulation of gene expression
  • response to ethanol
  • response to drug
  • cardiac muscle tissue morphogenesis
  • muscle filament sliding
Components
  • sarcomere
  • cytosol
  • extracellular exosome
  • actomyosin, actin portion
  • blood microparticle
  • cell body
  • focal adhesion
  • cytoplasm
  • membrane
  • filopodium
  • lamellipodium
  • extracellular space
  • I band
  • actin filament
General FunctionMyosin binding
Specific FunctionActins are highly conserved proteins that are involved in various types of cell motility and are ubiquitously expressed in all eukaryotic cells.
Pfam Domain Function
Transmembrane RegionsNot Available
GenBank Protein IDNot Available
UniProtKB IDP68032
UniProtKB Entry NameACTC_HUMAN
Cellular LocationCytoplasm
Gene sequence
>lcl|BSEQ0013450|Actin, alpha cardiac muscle 1 (ACTC1)
ATGTGTGACGACGAGGAGACCACCGCCCTGGTGTGCGACAACGGCTCTGGGCTGGTGAAG
GCCGGCTTTGCGGGCGATGACGCGCCCCGCGCTGTCTTCCCGTCCATCGTGGGCCGCCCG
CGGCACCAGGGAGTTATGGTGGGTATGGGTCAGAAGGACTCCTACGTAGGTGATGAAGCC
CAGAGCAAGAGAGGCATCCTGACCCTGAAGTATCCCATCGAGCATGGTATCATCACCAAC
TGGGACGACATGGAGAAGATCTGGCACCACACCTTCTACAATGAGCTCCGTGTGGCTCCC
GAGGAGCACCCCACCCTGCTCACAGAGGCCCCGCTGAACCCCAAGGCCAACCGGGAGAAG
ATGACTCAGATCATGTTTGAGACCTTCAATGTCCCTGCCATGTACGTGGCCATCCAGGCA
GTGCTATCCCTGTATGCTTCTGGCCGTACCACAGGCATTGTTCTGGACTCTGGGGATGGT
GTAACTCACAATGTCCCCATCTATGAGGGCTACGCTTTGCCCCATGCCATCATGCGTCTG
GATCTGGCTGGTCGGGACCTCACTGACTACCTCATGAAGATCCTCACTGAGCGTGGCTAC
TCCTTTGTCACCACTGCTGAACGTGAAATTGTCCGTGACATTAAAGAGAAGCTGTGCTAT
GTCGCCCTGGATTTTGAGAATGAGATGGCCACAGCTGCCTCTTCCTCCTCCCTGGAGAAG
AGCTATGAACTGCCTGATGGCCAAGTCATCACTATTGGCAATGAGCGCTTCCGCTGTCCT
GAGACACTCTTCCAGCCCTCCTTCATTGGTATGGAATCTGCTGGCATCCATGAAACAACT
TACAATAGCATCATGAAGTGTGACATTGATATCCGCAAGGACCTGTATGCCAACAATGTC
TTATCTGGAGGCACCACTATGTACCCTGGTATTGCTGATCGTATGCAGAAGGAAATCACT
GCTCTGGCTCCTAGCACCATGAAGATTAAGATTATTGCTCCCCCTGAGCGTAAATACTCT
GTCTGGATTGGGGGCTCCATCCTGGCCTCTCTGTCCACCTTCCAGCAAATGTGGATTAGC
AAGCAAGAGTACGATGAGGCAGGCCCATCCATTGTCCACCGCAAATGCTTCTAA
GenBank Gene IDNot Available
GeneCard IDNot Available
GenAtlas IDNot Available
HGNC IDHGNC:143
Chromosome Location15
LocusNot Available
References
  1. Hamada H, Petrino MG, Kakunaga T: Molecular structure and evolutionary origin of human cardiac muscle actin gene. Proc Natl Acad Sci U S A. 1982 Oct;79(19):5901-5. 6310553
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  3. Kudryashov DS, Durer ZA, Ytterberg AJ, Sawaya MR, Pashkov I, Prochazkova K, Yeates TO, Loo RR, Loo JA, Satchell KJ, Reisler E: Connecting actin monomers by iso-peptide bond is a toxicity mechanism of the Vibrio cholerae MARTX toxin. Proc Natl Acad Sci U S A. 2008 Nov 25;105(47):18537-42. doi: 10.1073/pnas.0808082105. Epub 2008 Nov 17. 19015515
  4. Li MM, Nilsen A, Shi Y, Fusser M, Ding YH, Fu Y, Liu B, Niu Y, Wu YS, Huang CM, Olofsson M, Jin KX, Lv Y, Xu XZ, He C, Dong MQ, Rendtlew Danielsen JM, Klungland A, Yang YG: ALKBH4-dependent demethylation of actin regulates actomyosin dynamics. Nat Commun. 2013;4:1832. doi: 10.1038/ncomms2863. 23673617
  5. Heisler DB, Kudryashova E, Grinevich DO, Suarez C, Winkelman JD, Birukov KG, Kotha SR, Parinandi NL, Vavylonis D, Kovar DR, Kudryashov DS: ACTIN-DIRECTED TOXIN. ACD toxin-produced actin oligomers poison formin-controlled actin polymerization. Science. 2015 Jul 31;349(6247):535-9. doi: 10.1126/science.aab4090. 26228148
  6. Olson TM, Michels VV, Thibodeau SN, Tai YS, Keating MT: Actin mutations in dilated cardiomyopathy, a heritable form of heart failure. Science. 1998 May 1;280(5364):750-2. 9563954
  7. Mogensen J, Klausen IC, Pedersen AK, Egeblad H, Bross P, Kruse TA, Gregersen N, Hansen PS, Baandrup U, Borglum AD: Alpha-cardiac actin is a novel disease gene in familial hypertrophic cardiomyopathy. J Clin Invest. 1999 May 15;103(10):R39-43. 10330430
  8. Olson TM, Doan TP, Kishimoto NY, Whitby FG, Ackerman MJ, Fananapazir L: Inherited and de novo mutations in the cardiac actin gene cause hypertrophic cardiomyopathy. J Mol Cell Cardiol. 2000 Sep;32(9):1687-94. 10966831
  9. Mogensen J, Perrot A, Andersen PS, Havndrup O, Klausen IC, Christiansen M, Bross P, Egeblad H, Bundgaard H, Osterziel KJ, Haltern G, Lapp H, Reinecke P, Gregersen N, Borglum AD: Clinical and genetic characteristics of alpha cardiac actin gene mutations in hypertrophic cardiomyopathy. J Med Genet. 2004 Jan;41(1):e10. 14729850
  10. Matsson H, Eason J, Bookwalter CS, Klar J, Gustavsson P, Sunnegardh J, Enell H, Jonzon A, Vikkula M, Gutierrez I, Granados-Riveron J, Pope M, Bu'Lock F, Cox J, Robinson TE, Song F, Brook DJ, Marston S, Trybus KM, Dahl N: Alpha-cardiac actin mutations produce atrial septal defects. Hum Mol Genet. 2008 Jan 15;17(2):256-65. Epub 2007 Oct 18. 17947298
  11. Morita H, Rehm HL, Menesses A, McDonough B, Roberts AE, Kucherlapati R, Towbin JA, Seidman JG, Seidman CE: Shared genetic causes of cardiac hypertrophy in children and adults. N Engl J Med. 2008 May 1;358(18):1899-908. doi: 10.1056/NEJMoa075463. Epub 2008 Apr 9. 18403758