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FLASH GENE
Symbol ACTC1 contributors: SGE/npt - updated : 13-07-2010
HGNC name actin, alpha, cardiac muscle 1
HGNC id 143
Corresponding disease
ASD5 atrial septal defect 5
CMD1R cardiomyopathy, dilated 1R
CMH11 cardiomyopathy, familial, hypertrophic, 11
Location 15q14      Physical location : 35.080.296 - 35.087.927
Synonym name
  • smooth muscle actin
  • alpha-cardiac actin
  • Synonym symbol(s) ACTC
    DNA
    TYPE functioning gene
    STRUCTURE 7.63 kb     7 Exon(s)
    MAPPING cloned Y linked Y status provisional
    Map cen - D15S24 - D15S1010 - D15S144 - D15S1040 - ACTC1 - D15S118 - D15S25 - D15S49 - D15S1 - D15S29 - qter
    Authors Kramer (92), LDB (99)
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    7 - 3693 - 377 - Hamada (1982)
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   highly
    Nervousbrain    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularsmooth   
    Muscularstriatumcardiac  
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal
    Text pancreas
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    HOMOLOGY
    interspecies ortholog to murine Actc1 (100.00pc)
    ortholog to rattus Actc1 (100.00pc)
    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
    ANIMAL & CELL MODELS