Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol ACTC1 contributors: SGE/npt - updated : 13-07-2010
HGNC name actin, alpha, cardiac muscle 1
HGNC id 143
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
HOMOLOGY
interspecies ortholog to murine Actc1 (100.00pc)
ortholog to rattus Actc1 (100.00pc)
intraspecies homolog to ACTA1
Homologene
FAMILY
  • actin family
  • CATEGORY structural protein
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytoskeleton
    text actin cytoskeleton
    basic FUNCTION
  • playing a critical role for normal cardiac morphogenesis
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • major constituent of the contractile apparatus
  • major component of the sarcomeric thin filaments and essential for cardiac muscle contraction
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) CMD1R , ASD5 , CMH11
    Susceptibility
    Variant & Polymorphism
    Candidate gene
  • marker of fibrosis progression after hepatitis B infection
  • E101K mutation in two probands of left ventricular non compaction 4 (Klaassen 2008)
  • Marker
    Therapy target
    SystemTypeDisorderPubmed
    neuromuscularmyopathy 
    its over-expression in postnatal skeletal muscle can significantly lessen the disease severity of at least one dominant ACTA1 mutation: p.D286G
    ANIMAL & CELL MODELS