ACTL6A

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Lua error in Module:Infobox_gene at line 53: attempt to index field 'wikibase' (a nil value). Actin-like protein 6A is a protein that in humans is encoded by the ACTL6A gene.[1][2][3]

Function

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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

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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

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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

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Further reading

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