This gene encodes a family member of actin-related proteins (ARPs), which share significant amino acid sequence identity to conventional actins. Both actins and ARPs have an actin fold, which is an ATP-binding cleft, as a common feature. The ARPs are involved in diverse cellular processes, including vesicular transport, spindle orientation, nuclear migration and chromatin remodeling. This gene encodes a 53 kDa subunit protein of the BAF (BRG1/brm-associated factor) complex in mammals, which is functionally related to SWI/SNF complex in S. cerevisiae and Drosophila; the latter is thought to facilitate transcriptional activation of specific genes by antagonizing chromatin-mediated transcriptional repression. Together with beta-actin, it is required for maximal ATPase activity of BRG1, and for the association of the BAF complex with chromatin/matrix. Three transcript variants that encode two different protein isoforms have been described.[3]
Clinical significance
ACTL6A is amplified in head and squamous cancers and confers poor prognosis in patients.[4] In hepatocellular carcinomas, it promotes metastasis.[5]
↑ 1.01.1Zhao K, Wang W, Rando OJ, Xue Y, Swiderek K, Kuo A, Crabtree GR (December 1998). "Rapid and phosphoinositol-dependent binding of the SWI/SNF-like BAF complex to chromatin after T lymphocyte receptor signaling". Cell. 95 (5): 625–36. doi:10.1016/S0092-8674(00)81633-5. PMID9845365.
↑Harata M, Mochizuki R, Mizuno S (July 1999). "Two isoforms of a human actin-related protein show nuclear localization and mutually selective expression between brain and other tissues". Biosci Biotechnol Biochem. 63 (5): 917–23. doi:10.1271/bbb.63.917. PMID10380635.
↑Kuroda Y, Oma Y, Nishimori K, Ohta T, Harata M (November 2002). "Brain-specific expression of the nuclear actin-related protein ArpNalpha and its involvement in mammalian SWI/SNF chromatin remodeling complex". Biochem. Biophys. Res. Commun. 299 (2): 328–34. doi:10.1016/S0006-291X(02)02637-2. PMID12437990.
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Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID8125298.
Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID9373149.
Phelan ML, Sif S, Narlikar GJ, Kingston RE (1999). "Reconstitution of a core chromatin remodeling complex from SWI/SNF subunits". Mol. Cell. 3 (2): 247–53. doi:10.1016/S1097-2765(00)80315-9. PMID10078207.
Ikura T, Ogryzko VV, Grigoriev M, Groisman R, Wang J, Horikoshi M, Scully R, Qin J, Nakatani Y (2000). "Involvement of the TIP60 histone acetylase complex in DNA repair and apoptosis". Cell. 102 (4): 463–73. doi:10.1016/S0092-8674(00)00051-9. PMID10966108.
Sung YH, Choi EY, Kwon H (2001). "Identification of a nuclear protein ArpN as a component of human SWI/SNF complex and its selective association with a subset of active genes". Mol. Cells. 11 (1): 75–81. PMID11266125.
Lai CH, Chiu JY, Lin W (2001). "Identification of the human crooked neck gene by comparative gene identification". Biochim. Biophys. Acta. 1517 (3): 449–54. doi:10.1016/s0167-4781(00)00295-5. PMID11342225.
Fuchs M, Gerber J, Drapkin R, Sif S, Ikura T, Ogryzko V, Lane WS, Nakatani Y, Livingston DM (2001). "The p400 complex is an essential E1A transformation target". Cell. 106 (3): 297–307. doi:10.1016/S0092-8674(01)00450-0. PMID11509179.
Kato H, Tjernberg A, Zhang W, Krutchinsky AN, An W, Takeuchi T, Ohtsuki Y, Sugano S, de Bruijn DR, Chait BT, Roeder RG (2002). "SYT associates with human SNF/SWI complexes and the C-terminal region of its fusion partner SSX1 targets histones". J. Biol. Chem. 277 (7): 5498–505. doi:10.1074/jbc.M108702200. PMID11734557.
Ohfuchi E, Nishimori K, Harata M (2003). "Alternative splicing products of the gene for a human nuclear actin-related protein, hArpNbeta/Baf53, that encode a protein isoform, hArpNbetaS, in the cytoplasm". Biosci. Biotechnol. Biochem. 66 (8): 1740–3. doi:10.1271/bbb.66.1740. PMID12353638.
Kuroda Y, Oma Y, Nishimori K, Ohta T, Harata M (2003). "Brain-specific expression of the nuclear actin-related protein ArpNalpha and its involvement in mammalian SWI/SNF chromatin remodeling complex". Biochem. Biophys. Res. Commun. 299 (2): 328–34. doi:10.1016/S0006-291X(02)02637-2. PMID12437990.