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FLASH GENE
Symbol ACTB contributors: mct - updated : 30-01-2018
HGNC name actin, beta
HGNC id 132
Corresponding disease
ACTB recurrent infection, photosensitivity and mild mental retardation
BRWS1 Baraitser-Winter syndrome-1
DYTD dystonia, deafness
Location 7p22.1      Physical location : 5.566.782 - 5.570.232
Synonym name
  • PS1TP5-binding protein 1
  • beta cytoskeletal actin
  • Synonym symbol(s) PS1TP5BP1
    DNA
    TYPE functioning gene
    STRUCTURE 3.45 kb     6 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    Physical map
    KIAA1856 7p22.2 KIAA1856 protein LOC391996 7 similar to hypothetical protein FLJ10307 LOC392712 7 similar to Williams-Beuren syndrome critical region protein 19 LOC392713 7 similar to PMS4 homolog mismatch repair protein - human FLJ13195 7p11.2-q11.2 hypothetical protein FLJ13195 similar to stromal antigen 3 MGC33190 7q22.2 hypothetical protein MGC33190 LOC392623 7 LOC392623 FLJ11467 7p22.2 hypothetical protein FLJ11467 RBAK 7p22.2 hypothetical protein FLJ11467 LOC389458 7 hypothetical gene supported by BC031661 LOC391997 7 similar to olfactory receptor MOR267-3 LOC285924 7p22.2 hypothetical protein LOC285924 ACTB 7p22 actin, beta LOC392860 7 similar to Calgizzarin (S100C protein) (MLN 70) LOC392945 7 similar to 60S ribosomal protein L10 (QM protein homolog) DKFZP434J154 7p22.2 DKFZP434J154 protein FSCN1 7p22 fascin homolog 1, actin-bundling protein (Strongylocentrotus purpuratus) GNAI1 7q21.3-q22.1 guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 1 TRIAD3 7p22.2 guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 1 FLJ23834 7q22.2 hypothetical protein FLJ23834 SLC29A4 7p22.2 solute carrier family 29 (nucleoside transporters), member 4 KIAA1856 7p22.2 KIAA1856 protein SYPL 7q22.1-q31.1 synaptophysin-like protein LOC389459 7 LOC389459 FLJ11467 7p22.2 hypothetical protein FLJ11467 LOC392624 7 similar to hypothetical protein LOC285924 LOC392625 7 similar to ONCOMODULIN (OM) (PARVALBUMIN BETA) PBEF 7q11.23 similar to ONCOMODULIN (OM) (PARVALBUMIN BETA) C7orf28A 7p22.2 chromosome 7 open reading frame 28A ACTB 7p22 actin, beta LOC391998 7 similar to Calgizzarin (S100C protein) (MLN 70) LOC392946 LOC222967 7p22.2 hypothetical protein LOC222967 PMS2 7p22 PMS2 postmeiotic segregation increased 2 (S. cerevisiae) FSCN1 7p22 fascin homolog 1, actin-bundling protein (Strongylocentrotus purpuratus) TRIAD3 7p22.2 fascin homolog 1, actin-bundling protein (Strongylocentrotus purpuratus) JTV1 7p22 fascin homolog 1, actin-bundling protein (Strongylocentrotus purpuratus) HRI 7p22 heme-regulated initiation factor 2-alpha kinase USP42 7p22.2 ubiquitin specific protease 42 CD36 7q11.2 CD36 antigen (collagen type I receptor, thrombospondin receptor) PSCD3 7q21 pleckstrin homology, Sec7 and coiled-coil domains 3 SEMA3C 7q21-q31 sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C LOC389460 7 similar to hypothetical protein LOC285924 C7orf28A 7p22.2 chromosome 7 open reading frame 28A FLJ36031 7q22.2 hypothetical protein FLJ36031 LOC222967 7p22.2 hypothetical protein LOC222967 MGC12966 7p22.2 hypothetical protein MGC12966 PMS2 7p22 PMS2 postmeiotic segregation increased 2 (S. cerevisiae) RAC1 7p22 ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1) JTV1 7p22 ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1) LOC221955 7p22.2 KCCR13L HRI 7p22 heme-regulated initiation factor 2-alpha kinase KDELR2 7p22-p21 KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 2 FLJ20306 7p22.2 hypothetical protein FLJ20306 LOC392861 7 similar to ribosomal protein L31 LOC392862 7 similar to GluR-delta2 philic-protein USP42 7p22.2 ubiquitin specific protease 42
    regionally located close to FSCN1
    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)
  • 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