||Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Component of SWI/SNF chromatin remodeling complexes that carry out key enzymatic activities, changing chromatin structure by altering DNA-histone contacts within a nucleosome in an ATP-dependent manner. Required for maximal ATPase activity of SMARCA4/BRG1/BAF190A and for association of the SMARCA4/BRG1/BAF190A containing remodeling complex BAF with chromatin/nuclear matrix. Belongs to the neural progenitors-specific chromatin remodeling complex (npBAF complex) and is required for the proliferation of neural progenitors. During neural development a switch from a stem/progenitor to a postmitotic chromatin remodeling mechanism occurs as neurons exit the cell cycle and become committed to their adult state. The transition from proliferating neural stem/progenitor cells to postmitotic neurons requires a switch in subunit composition of the npBAF and nBAF complexes. As neural progenitors exit mitosis and differentiate into neurons, npBAF complexes which contain ACTL6A/BAF53A and PHF10/BAF45A, are exchanged for homologous alternative ACTL6B/BAF53B and DPF1/BAF45B or DPF3/BAF45C subunits in neuron-specific complexes (nBAF). The npBAF complex is essential for the self-renewal/proliferative capacity of the multipotent neural stem cells. The nBAF complex along with CREST plays a role regulating the activity of genes essential for dendrite growth (By similarity). Component of the NuA4 histone acetyltransferase (HAT) complex which is involved in transcriptional activation of select genes principally by acetylation of nucleosomal histones H4 and H2A. This modification may both alter nucleosome - DNA interactions and promote interaction of the modified histones with other proteins which positively regulate transcription. This complex may be required for the activation of transcriptional programs associated with oncogene and proto-oncogene mediated growth induction, tumor suppressor mediated growth arrest and replicative senescence, apoptosis, and DNA repair. NuA4 may also play a direct role in DNA repair when recruited to sites of DNA damage. Putative core component of the chromatin remodeling INO80 complex which is involved in transcriptional regulation, DNA replication and probably DNA repair.
|Gene References into Functions
- hese results suggest that BAF53a may be a novel prognostic factor for glioma patients, and that BAF53 may facilitate glioma progression by promoting proliferation, invasion, and associate with EMT. Therefore, BAF53a could be a potential promising biomarker and a target for the treatment of glioma. PMID: 29039584
- ACTL6A gene mutation analysis should be considered in patients with intellectual disability, learning disabilities, or developmental language disorder. PMID: 28649782
- ACTL6A and p63 collaborate as oncogenic drivers in head and neck squamous cell carcinoma (HNSCC). PMID: 28041841
- Study shows high expression level of ACTL6A in osteosarcoma tissues and associates with poor survival providing evidence that ACTL6A promotes osteosarcoma cell metastasis through epithelial-mesenchymal transition. PMID: 28260090
- ACTL6A protein expression predicts poor prognosis of hepatocellular carcinoma and metastasis. PMID: 26698646
- BAF53 is prerequisite for maintaining the structural integrity of chromosomal subdomains. PMID: 26242195
- These results indicate that failure to downregulate the BAF53a subunit may contribute to the pathogenesis of rhabdomyosarcoma, and suggest that BAF53a may represent a novel therapeutic target for this tumor. PMID: 23728344
- Data show that ACTL6a prevents SWI/SNF complex binding to promoters of KLF4 and other differentiation genes and that SWI/SNF catalytic subunits are required for full induction of KLF4 targets. PMID: 23395444
- The beta-actin-Arp4 complex formation might be a crucial feature in some chromatin-modifying enzyme complexes, such as the Brg1 complex. PMID: 22573825
- These results suggest that activated expression of the E6 and E7 genes of integrated HPV is dependent on BAF53-dependent higher-order chromatin structure or nuclear motor activity. PMID: 21821000
- study finds Baf53 and Baf170 are highly regulated in HIV-1-infected cells;innate function of Baf53-containing complexes appears to be transcriptionally suppressive PMID: 21699904
- data show that BAF53 shuttles between the cytoplasm and nucleus in an energy-dependent manner, and suggest that BAF53 can play a role distinct from its previously recognized function in transcriptional regulation PMID: 14503849
|Involvement in disease
||ACTL6A mutations have been found in patients with intellectual disability of variable severity, developmental delay, dysmorphic features and digit abnormalities. Additional features may include genitourinary and cardiac defects. The disease phenotype resembles Coffin-Siris syndrome and brachymorphism-onychodysplasia-dysphalangism syndrome.