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FLASH GENE
Symbol ACTB contributors: mct - updated : 30-01-2018
HGNC name actin, beta
HGNC id 132
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
6 - 1852 - 375 - 2004 15555571
EXPRESSION
Type ubiquitous
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart   predominantly Mus musculus
Lymphoid/Immunespleen   highly
 tonsils   predominantly
Nervousbrainforebraincerebral cortex predominantly Mus musculus
Urinarykidney   predominantly Mus musculus
Visualeyeanterior segmentcornea  
cells
SystemCellPubmedSpeciesStageRna symbol
Nervousneuron Mus musculus
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
HOMOLOGY
interspecies ortholog to murine Actb
Homologene
FAMILY actin family
CATEGORY motor/contractile , structural protein
SUBCELLULAR LOCALIZATION     intracellular
intracellular,cytoplasm,cytosolic
intracellular,cytoplasm,cytoskeleton
basic FUNCTION
  • highly conserved proteins that are involved in various types of cell motility and are ubiquitously expressed in all eukaryotic cells
  • in the nucleus ACTB regulates gene expression, cell division, and proliferation
  • GDF11, ACTB and FST are crucial components of a circuit that controls both total cell number and the ratio of neuronal versus glial cells in in this system
  • cytoplasmic actin, having a central role in the pathogenesis of lissencephaly
  • required for early embryonic development
  • 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
  • ACTB and ADD2 are membrane cytoskeletal proteins, involved in synaptic function
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • beta and gamma actins coexist in most cell types as components of the cytoskeleton and as mediators of internal cell motility
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • ACTB/ACTL6A complex formation might be a crucial feature in some chromatin-modifying enzyme complexes, such as the SMARCA4 complex
  • VPS13A interacts with beta-adducin (ADD2) and beta-actin (ACTB)
  • specific interaction of KIF11 with IGF2BP1 regulates the transport of ACTB mRNA and cell motility
  • cell & other
    REGULATION
    Phosphorylated by can be directly tyrosine-phosphorylated by CSK, and in a CSK-dependent manner in cells
    ASSOCIATED DISORDERS
    corresponding disease(s) ACTB , DYTD , BRWS1
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    in gastric cancer
    tumoral fusion      
    with GLI1 in through the translocation t(7;12)(p22;q13), in pericytoma
    tumoral germinal mutation      
    may be associated with a broad spectrum of developmental malformations and/or neurological abnormalities such as dystonia
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Actb-/- mice are embryonic lethal