Biology:ACTL6A

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Short description: Protein-coding gene in the species Homo sapiens

A representation of the 3D structure of the protein myoglobin showing turquoise α-helices.
Generic protein structure example

Actin-like protein 6A is a protein that in humans is encoded by the ACTL6A gene.[1][2][3]

Function

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. This is also the first report of amplification of an epigenetic factor by Saladi SV.[4] In hepatocellular carcinomas, it promotes metastasis.[5]

Interactions

ACTL6A has been shown to interact with SMARCA2,[6][7][8] Myc,[7] Transformation/transcription domain-associated protein,[7] RuvB-like 1[7] and SMARCA4.[1][6]

References

  1. 1.0 1.1 "Rapid and phosphoinositol-dependent binding of the SWI/SNF-like BAF complex to chromatin after T lymphocyte receptor signaling". Cell 95 (5): 625–36. December 1998. doi:10.1016/S0092-8674(00)81633-5. PMID 9845365. 
  2. "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. July 1999. doi:10.1271/bbb.63.917. PMID 10380635. 
  3. 3.0 3.1 "Entrez Gene: ACTL6A actin-like 6A". https://www.ncbi.nlm.nih.gov/gene?Db=gene&Cmd=ShowDetailView&TermToSearch=86. 
  4. "ACTL6A Is Co-Amplified with p63 in Squamous Cell Carcinoma to Drive YAP Activation, Regenerative Proliferation, and Poor Prognosis". Cancer Cell 31 (1): 35–49. 2017. doi:10.1016/j.ccell.2016.12.001. PMID 28041841. 
  5. "Actin-like 6A predicts poor prognosis of hepatocellular carcinoma and promotes metastasis and epithelial-mesenchymal transition". Hepatology 63 (4): 1256–71. 2016. doi:10.1002/hep.28417. PMID 26698646. 
  6. 6.0 6.1 "Purification and biochemical heterogeneity of the mammalian SWI-SNF complex". EMBO J. 15 (19): 5370–82. October 1996. doi:10.1002/j.1460-2075.1996.tb00921.x. PMID 8895581. 
  7. 7.0 7.1 7.2 7.3 "BAF53 forms distinct nuclear complexes and functions as a critical c-Myc-interacting nuclear cofactor for oncogenic transformation". Mol. Cell. Biol. 22 (5): 1307–16. March 2002. doi:10.1128/MCB.22.5.1307-1316.2002. PMID 11839798. 
  8. "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. November 2002. doi:10.1016/S0006-291X(02)02637-2. PMID 12437990. 

Further reading