ACTL6A

Actin-like protein 6A is a protein that in humans is encoded by the ACTL6A gene.^[5][6][7]

ACTL6A
Identifiers
Aliases	ACTL6A, ACTL6, ARPN-BETA, Arp4, BAF53A, INO80K, actin like 6A, SMARCN1
External IDs	OMIM: 604958; MGI: 1861453; HomoloGene: 55811; GeneCards: ACTL6A; OMA:ACTL6A - orthologs
Gene location (Human) Chr. Chromosome 3 (human)[1] Band 3q26.33 Start 179,562,886 bp[1] End 179,588,407 bp[1]
Gene location (Mouse) Chr. Chromosome 3 (mouse)[2] Band 3|3 A3 Start 32,760,447 bp[2] End 32,781,122 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in gonad Achilles tendon ganglionic eminence ventricular zone oocyte right testis left testis secondary oocyte rectum islet of Langerhans Top expressed in ectoderm otic vesicle internal carotid artery otic placode maxillary prominence mandibular prominence external carotid artery abdominal wall epiblast medial ganglionic eminence More reference expression data BioGPS More reference expression data
Gene ontology Molecular function RNA polymerase II cis-regulatory region sequence-specific DNA binding transcription coactivator activity chromatin binding protein binding nucleosomal DNA binding Cellular component SWI/SNF complex Ino80 complex NuA4 histone acetyltransferase complex plasma membrane nucleoplasm npBAF complex nucleus protein-containing complex Biological process chromatin remodeling DNA recombination regulation of transcription, DNA-templated positive regulation of protein targeting to mitochondrion regulation of transcription by RNA polymerase II histone H2A acetylation transcription, DNA-templated nervous system development cellular response to DNA damage stimulus regulation of autophagy of mitochondrion spinal cord development histone H4 acetylation regulation of growth DNA repair neural retina development signal transduction protein deubiquitination blastocyst formation chromatin organization positive regulation of nucleic acid-templated transcription Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 86 56456 Ensembl ENSG00000136518 ENSMUSG00000027671 UniProt O96019 Q9Z2N8 RefSeq (mRNA) NM_178042 NM_004301 NM_177989 NM_019673 RefSeq (protein) NP_004292 NP_817126 NP_829888 NP_062647 Location (UCSC) Chr 3: 179.56 – 179.59 Mb Chr 3: 32.76 – 32.78 Mb PubMed search [3] [4]
Wikidata
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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.^[7]

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.^[8] In hepatocellular carcinomas, it promotes metastasis.^[9]

Interactions

ACTL6A has been shown to interact with SMARCA2,^[10][11][12] Myc,^[11] Transformation/transcription domain-associated protein,^[11] RuvB-like 1^[11] and SMARCA4.^[5][10]