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FLASH GENE
Symbol ACTG1 contributors: mct/npt/pgu - updated : 08-02-2014
HGNC name actin, gamma 1
HGNC id 144
EXPRESSION
Type ubiquitous
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Hearing/Equilibriumearinnercochlea highly
Lymphoid/Immunelymph node   highly
Reproductivefemale systemuterus  highly
Skin/Tegumentskin   highly
Visualeyeanterior segmentcornea highly
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Blood / Hematopoieticbone marrow   
cells
SystemCellPubmedSpeciesStageRna symbol
Hearing / Equilibriumcochlea cell
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period fetal
Text cochlea, pancreas
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • outer domain comprised subdomains 1 and 2
  • the inner larger domain contains subdomains 3 and 4
    • HOMOLOGY
    Homologene
    FAMILY
  • actin family
    • CATEGORY structural protein
    SUBCELLULAR LOCALIZATION extracellular
        intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,cytoplasm,cytoskeleton
    basic FUNCTION
  • involved in various types of cell motility, and maintenance of the cytoskeleton
  • predominant isoform of the hair cell lateral wall
  • cytoplasmic actin, having a central role in the pathogenesis of lissencephaly
  • overlapping developmental roles but unique post-developmental functions for ACTB and ACTG1 in maintaining hair cell stereocilia
  • regulates cell migration and modulates the ROCK1 signaling pathway
  • essential role for ACTB in regulating cell migration and gene expression through control of the cellular G-actin pool
  • cytoplasmic actin isoforms ACTB and ACTG1 play unique roles in regulating structure and permeability of epithelial junctions
  • cytoskeletal protein considered to be an integral component of the cell migratory machinery, essential for the rearrangement of the dynamic cytoskeletal networks and important in diseases, such as brain malformation, hearing loss and cancer development
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with BCAP29
  • ASAP3 linked with ACTG1 in the regulation of cytoskeletal maintenance and cell motility
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) DFNA20 , BRWS2
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Actg1-/- mice have reduced viability, with some animals surviving to adulthood