Actin, alpha cardiac muscle 1


NameActin, alpha cardiac muscle 1
SynonymsACTC 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 pINone
GO Classification
Functions
    ATP binding
    myosin binding
    ATPase activity
Processes
    mesenchyme migration
    apoptotic process
    cardiac muscle tissue morphogenesis
    skeletal muscle thin filament assembly
    negative regulation of apoptotic process
    muscle filament sliding
    cardiac muscle contraction
    actin filament-based movement
    response to drug
    cardiac myofibril assembly
    positive regulation of gene expression
    actin-myosin filament sliding
    response to ethanol
    actomyosin structure organization
    heart contraction
Components
    extracellular exosome
    lamellipodium
    cytoplasm
    blood microparticle
    I band
    membrane
    cell body
    sarcomere
    focal adhesion
    actomyosin, actin portion
    extracellular space
    actin filament
    cytosol
    filopodium
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.
Transmembrane Regions
GenBank Protein ID
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 ID
GeneCard IDNone
GenAtlas ID
HGNC IDHGNC:143
Chromosome Location15
LocusNone
References
  1. Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7.[15489334 ]
  2. 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 ]
  3. 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 ]
  4. 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 ]
  5. 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 ]
  6. 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 ]
  7. 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 ]
  8. 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 ]
  9. 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 ]
  10. 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 ]
  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 ]

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