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FLASH GENE
Symbol ACTG1 contributors: mct/npt/pgu - updated : 08-02-2014
HGNC name actin, gamma 1
HGNC id 144
Corresponding disease
BRWS2 Baraitser-Winter syndrome 2
DFNA20 neurosensory deafness 20
Location 17q25.3      Physical location : 79.476.998 - 79.479.827
Synonym name
  • actin, cytoplasmic 2
  • actin, gamma 1 propeptide
  • cytoskeletal gamma-actin
    • Synonym symbol(s) ACT, ACTG, BRWS, DFNA2, DFNA26, HEL-176
    DNA
    TYPE functioning gene
    STRUCTURE 2.92 kb     6 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    regionally located close to FSCN2
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    6 - 2004 - 375 - 2013 24098136
    6 - 2123 - 375 - 2013 24098136
    - - - - - . is predominantly expressed in skeletal muscle, cardiac muscle, and diaphragm 2013 24098136
  • includes a previously unidentified exon (3a), and inclusion of this exon introduces an in-frame termination codon
    		•
    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