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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
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 Homo sapiensAdult
Nervousbrain    
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Muscularsmooth   
Muscularstriatumcardiac   Homo sapiensAdult
Muscularstriatumskeletal highly Homo sapiensFetal
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)
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