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.[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/sites/entrez?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