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FLASH GENE
Symbol ACTL6B contributors: mct - updated : 06-06-2019
HGNC name actin-like 6B
HGNC id 160
Corresponding disease
MREES mental retardation,epileptic encephalopathy, and spasticity
Location 7q22.1      Physical location : 100.240.727 - 100.254.084
Synonym name
  • actin-like 6
  • actin-related protein
  • hArpN alpha
  • 53 kDa BRG1-associated factor B
  • BRG1-associated factor 53B
  • actin-related protein Baf53b
    • Synonym symbol(s) ACTL6, BAF53B, arpNalpha
    DNA
    TYPE functioning gene
    STRUCTURE 13.36 kb     14 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    14 - 1524 - 426 - 2013 23525042
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousbrain   specific
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    		small member of actin-typical domain
    HOMOLOGY
    interspecies homolog to yeast S. cerevisiae SWI/SNF complex
    homolog to Drosophila SWI/SNF complex
    ortholog to murine Actl6
    homolog to C.elegans ZK616.4
    intraspecies homolog to BAF53A
    Homologene
    FAMILY member of a family of actin-related proteins (ARPs)
    CATEGORY DNA associated , protooncogene
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus,nucleolus
    basic FUNCTION
  • involved in the regulation of genes by structural modulation of their chromatin specifically in the brain
  • required for maximal ATPase activity of BRG1 and for association of the complex with chromatin/matrix
  • role for ACTL6B in nucleus accumbens (NAc) neuronal function required for cocaine-associated memories, and also BDNF/TrkB activation in the NAc may overcome memory and plasticity deficits linked to ACTL6B mutations
  • critical role of ACTL6B in the lateral amygdala neurons for memory consolidation during long-term memory formation
  • role for ACTL6B in neurodevelopment
    • CELLULAR PROCESS nucleotide, chromatin organization, remodeling
    nucleotide, transcription, regulation
    PHYSIOLOGICAL PROCESS
    text
  • structural constituent of cytoskeleton
  • establishment and/or maintenance of chromatin architecture
    • PATHWAY
    metabolism
    signaling
    a component
  • subunit of the BAF (BRG1/brm-associated factor) complex
  • component of the chromatin remodeling machinery including the BAF complex
    • INTERACTION
    DNA binding
    RNA
    small molecule
    protein
  • binding to BRG1 and BRM
  • deleting HDAC3 can ameliorate the impairments in both long-term memory and synaptic plasticity caused by ACTL6B mutation
  • BDNF rescues ACTL6B-dependent synaptic plasticity and cocaine-associated memory in the nucleus accumbens
  • ACTL6B expression was induced upon neural cells becoming post-mitotic
    • cell & other
    REGULATION
    Other is induced after learning, and such increase of ACTL6B level facilitates memory consolidation likely by regulating learning-related spine structural plasticity
    ASSOCIATED DISORDERS
    corresponding disease(s) MREES
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Actl6b knock-out (KO) mouse have deficits in dendritic spine and synapse function, leading to impaired long-term memory and poor survival