ACTL6A

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
View/Edit Human View/Edit Mouse

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

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]}

References

1. GRCh38: Ensembl release 89: ENSG00000136518 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000027671 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Zhao 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 . PMID   9845365. S2CID   3184211.
6. 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 . PMID   10380635.
7. "Entrez Gene: ACTL6A actin-like 6A".
8. Saladi SV, Ross K, Karaayvaz M, Tata PR, Mou H, Rajagopal J, Ramaswamy S, Ellisen LW (2017). "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. doi:10.1016/j.ccell.2016.12.001. PMC   5225026 . PMID   28041841.
9. Xiao S, Chang RM, Yang MY, Lei X, Liu X, Gao WB, Xiao JL, Yang LY (2016). "Actin-like 6A predicts poor prognosis of hepatocellular carcinoma and promotes metastasis and epithelial-mesenchymal transition". Hepatology. 63 (4): 1256–71. doi:10.1002/hep.28417. PMC   4834727 . PMID   26698646.
10. Wang W, Côté J, Xue Y, Zhou S, Khavari PA, Biggar SR, Muchardt C, Kalpana GV, Goff SP, Yaniv M, Workman JL, Crabtree GR (October 1996). "Purification and biochemical heterogeneity of the mammalian SWI-SNF complex". EMBO J. 15 (19): 5370–82. doi:10.1002/j.1460-2075.1996.tb00921.x. PMC   452280 . PMID   8895581.
11. Park J, Wood MA, Cole MD (March 2002). "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. doi:10.1128/MCB.22.5.1307-1316.2002. PMC   134713 . PMID   11839798.
12. 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. PMID   12437990.

Further reading

• Schafer DA, Schroer TA (2000). "Actin-related proteins". Annu. Rev. Cell Dev. Biol. 15: 341–63. doi:10.1146/annurev.cellbio.15.1.341. PMID   10611965.
• Doyon Y, Côté J (2004). "The highly conserved and multifunctional NuA4 HAT complex". Curr. Opin. Genet. Dev. 14 (2): 147–54. doi:10.1016/j.gde.2004.02.009. PMID   15196461.
• 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. PMID   8125298.
• 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. PMID   9373149.
• Cho H, Orphanides G, Sun X, Yang XJ, Ogryzko V, Lees E, Nakatani Y, Reinberg D (1998). "A human RNA polymerase II complex containing factors that modify chromatin structure". Mol. Cell. Biol. 18 (9): 5355–63. doi:10.1128/MCB.18.9.5355. PMC   109120 . PMID   9710619.
• 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 . PMID   10078207.
• 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 . PMID   10966108. S2CID   18047169.
• Xue Y, Canman JC, Lee CS, Nie Z, Yang D, Moreno GT, Young MK, Salmon ED, Wang W (2001). "The human SWI/SNF-B chromatin-remodeling complex is related to yeast rsc and localizes at kinetochores of mitotic chromosomes". Proc. Natl. Acad. Sci. U.S.A. 97 (24): 13015–20. Bibcode:2000PNAS...9713015X. doi: 10.1073/pnas.240208597 . PMC   27170 . PMID   11078522.
• Wiemann S, Weil B, Wellenreuther R, Gassenhuber J, Glassl S, Ansorge W, Böcher M, Blöcker H, Bauersachs S, Blum H, Lauber J, Düsterhöft A, Beyer A, Köhrer K, Strack N, Mewes HW, Ottenwälder B, Obermaier B, Tampe J, Heubner D, Wambutt R, Korn B, Klein M, Poustka A (2001). "Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs". Genome Res. 11 (3): 422–35. doi:10.1101/gr.GR1547R. PMC   311072 . PMID   11230166.
• Simpson JC, Wellenreuther R, Poustka A, Pepperkok R, Wiemann S (2001). "Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing". EMBO Rep. 1 (3): 287–92. doi:10.1093/embo-reports/kvd058. PMC   1083732 . PMID   11256614.
• 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. doi: 10.1016/S1016-8478(23)17006-3 . PMID   11266125.
• 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. PMID   11342225.
• 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 . PMID   11509179. S2CID   15634637.
• 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 . hdl: 2066/170683 . PMID   11734557.
• Park J, Wood MA, Cole MD (2002). "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. doi:10.1128/MCB.22.5.1307-1316.2002. PMC   134713 . PMID   11839798.
• 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 . PMID   12353638. S2CID   35246242.
• 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. PMID   12437990.