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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
    Physical map
    BAIAP2 17q25 BAI1-associated protein 2 LOC388427 17 LOC388427 LOC388428 17 hypothetical gene supported by AK126811 AZI1 17q25.3 hypothetical gene supported by AK126811 FLJ31528 17q25.3 hypothetical protein FLJ31528 LOC284184 17q25.3 hypothetical LOC284184 MGC15523 17q25.3 hypothetical protein MGC15523 FLJ39421 17q25.3 hypothetical protein FLJ39421 FLJ38792 17q25.3 hypothetical protein FLJ38792 LOC388429 17 LOC388429 LOC146701 17q25.3 hypothetical LOC146701 LOC388430 17 LOC388430 LOC339226 17q25.3 hypothetical LOC339226 KIAA1447 17q25.3 KIAA1447 protein FLJ23058 17q25.3 hypothetical protein FLJ23058 LOC388431 17 LOC388431 ACTG1 17q25 actin, gamma 1 FSCN2 17q25 fascin homolog 2, actin-bundling protein, retinal (Strongylocentrotus purpuratus) FLJ22175 17q25.3 hypothetical protein FLJ22175 NPL4 17qter hypothetical protein FLJ22175 OCSP 17q25.3 oculospanin PDE6G 17q21.1 phosphodiesterase 6G, cGMP-specific, rod, gamma LOC339229 17q25.3 hypothetical protein LOC339229 MGC16597 17q25.3 similar to RIKEN cDNA 3110023B02 LOC339231 17q25.3 hypothetical protein LOC339231 HGS 17q25 hepatocyte growth factor-regulated tyrosine kinase substrate MRPL12 17q25 mitochondrial ribosomal protein L12 SLC25A10 17q25.3 solute carrier family 25 (mitochondrial carrier; dicarboxylate transporter), member 10 LOC388432 17 similar to dysferlin-interacting protein 1 P4HB 17q25.2 procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), beta polypeptide (protein disulfide isomerase; thyroid hormone binding protein p55)
    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