ARID1B explained
AT-rich interactive domain-containing protein 1B is a protein that in humans is encoded by the ARID1B gene.[1] ARID1B is a component of the human SWI/SNF chromatin remodeling complex.
Clinical significance
Germline mutations in ARID1B are associated with Coffin–Siris syndrome.[2] [3] Somatic mutations in ARID1B are associated with several cancer subtypes, suggesting that it is a tumor suppressor gene.[4] [5] [6] [7]
Interactions
ARID1B has been shown to interact with SMARCA4[8] [9] and SMARCA2.[9]
Further reading
- Martens JA, Winston F . Recent advances in understanding chromatin remodeling by Swi/Snf complexes . Curr. Opin. Genet. Dev. . 13 . 2 . 136–42 . 2003 . 12672490 . 10.1016/S0959-437X(03)00022-4 .
- Bonaldo MF, Lennon G, Soares MB . Normalization and subtraction: two approaches to facilitate gene discovery . Genome Res. . 6 . 9 . 791–806 . 1997 . 8889548 . 10.1101/gr.6.9.791 . free .
- Imbert G, Saudou F, Yvert G . Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats . Nat. Genet. . 14 . 3 . 285–91 . 1996 . 8896557 . 10.1038/ng1196-285 . 9304975 . etal.
- Mangel L, Ternes T, Schmitz B, Doerfler W . New 5'-(CGG)n-3' repeats in the human genome . J. Biol. Chem. . 273 . 46 . 30466–71 . 1998 . 9804814 . 10.1074/jbc.273.46.30466 . free .
- Phelan ML, Sif S, Narlikar GJ, Kingston RE . Reconstitution of a core chromatin remodeling complex from SWI/SNF subunits . Mol. Cell . 3 . 2 . 247–53 . 1999 . 10078207 . 10.1016/S1097-2765(00)80315-9 . free .
- Nagase T, Ishikawa K, Kikuno R . Prediction of the coding sequences of unidentified human genes. XV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro . DNA Res. . 6 . 5 . 337–45 . 2000 . 10574462 . 10.1093/dnares/6.5.337 . etal. free .
- Xue Y, Canman JC, Lee CS . 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 . 2001 . 11078522 . 10.1073/pnas.240208597 . 27170 . 2000PNAS...9713015X . etal. free .
- Kato H, Tjernberg A, Zhang W . 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 . 2002 . 11734557 . 10.1074/jbc.M108702200 . etal. free . 2066/170683 . free .
- Hurlstone AF, Olave IA, Barker N . Cloning and characterization of hELD/OSA1, a novel BRG1 interacting protein . Biochem. J. . 364 . Pt 1 . 255–64 . 2002 . 11988099 . 10.1042/bj3640255. 1222568 . etal.
- Inoue H, Furukawa T, Giannakopoulos S . Largest subunits of the human SWI/SNF chromatin-remodeling complex promote transcriptional activation by steroid hormone receptors . J. Biol. Chem. . 277 . 44 . 41674–85 . 2003 . 12200431 . 10.1074/jbc.M205961200 . etal. free .
- Strausberg RL, Feingold EA, Grouse LH . Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences . Proc. Natl. Acad. Sci. U.S.A. . 99 . 26 . 16899–903 . 2003 . 12477932 . 10.1073/pnas.242603899 . 139241 . 2002PNAS...9916899M . etal. free .
- Nie Z, Yan Z, Chen EH . Novel SWI/SNF Chromatin-Remodeling Complexes Contain a Mixed-Lineage Leukemia Chromosomal Translocation Partner . Mol. Cell. Biol. . 23 . 8 . 2942–52 . 2003 . 12665591 . 10.1128/MCB.23.8.2942-2952.2003 . 152562 . etal.
- Mungall AJ, Palmer SA, Sims SK . The DNA sequence and analysis of human chromosome 6 . Nature . 425 . 6960 . 805–11 . 2003 . 14574404 . 10.1038/nature02055 . 2003Natur.425..805M . etal. free .
- Garin G, Badid C, McGregor B . Ischemia Induces Early Expression of a New Transcription Factor (6A3-5) in Kidney Vascular Smooth Muscle Cells : Studies in Rat and Human Renal Pathology . Am. J. Pathol. . 163 . 6 . 2485–94 . 2004 . 14633620 . 10.1016/S0002-9440(10)63603-6. 1892391 . etal.
- Ota T, Suzuki Y, Nishikawa T . Complete sequencing and characterization of 21,243 full-length human cDNAs . Nat. Genet. . 36 . 1 . 40–5 . 2004 . 14702039 . 10.1038/ng1285 . etal. free .
- Bouwmeester T, Bauch A, Ruffner H . A physical and functional map of the human TNF-alpha/NF-kappa B signal transduction pathway . Nat. Cell Biol. . 6 . 2 . 97–105 . 2004 . 14743216 . 10.1038/ncb1086 . 11683986 . etal.
- Wilsker D, Patsialou A, Zumbrun SD . The DNA-binding properties of the ARID-containing subunits of yeast and mammalian SWI/SNF complexes . Nucleic Acids Res. . 32 . 4 . 1345–53 . 2004 . 14982958 . 10.1093/nar/gkh277 . 390273 . etal.
- Wang X, Nagl NG, Wilsker D . Two related ARID family proteins are alternative subunits of human SWI/SNF complexes . Biochem. J. . 383 . Pt 2 . 319–25 . 2005 . 15170388 . 10.1042/BJ20040524 . 1134073 . etal.
- Colland F, Jacq X, Trouplin V . Functional Proteomics Mapping of a Human Signaling Pathway . Genome Res. . 14 . 7 . 1324–32 . 2004 . 15231748 . 10.1101/gr.2334104 . 442148 . etal.
Notes and References
- Web site: Entrez Gene: ARID1B AT rich interactive domain 1B (SWI1-like).
- Tsurusaki Y, Okamoto N, Ohashi H, Kosho T, Imai Y, Hibi-Ko Y, Kaname T, Naritomi K, Kawame H, Wakui K, Fukushima Y, Homma T, Kato M, Hiraki Y, Yamagata T, Yano S, Mizuno S, Sakazume S, Ishii T, Nagai T, Shiina M, Ogata K, Ohta T, Niikawa N, Miyatake S, Okada I, Mizuguchi T, Doi H, Saitsu H, Miyake N, Matsumoto N . Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome . Nat. Genet. . 44 . 4 . 376–8 . April 2012 . 22426308 . 10.1038/ng.2219 . 205345340 .
- Santen GW, Aten E, Sun Y, Almomani R, Gilissen C, Nielsen M, Kant SG, Snoeck IN, Peeters EA, Hilhorst-Hofstee Y, Wessels MW, den Hollander NS, Ruivenkamp CA, van Ommen GJ, Breuning MH, den Dunnen JT, van Haeringen A, Kriek M . Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome . Nat. Genet. . 44 . 4 . 379–80 . April 2012 . 22426309 . 10.1038/ng.2217 . 205345323 .
- Shain AH, Pollack JR . The spectrum of SWI/SNF mutations, ubiquitous in human cancers . PLOS ONE . 8 . 1 . e55119 . 2013 . 23355908 . 3552954 . 10.1371/journal.pone.0055119 . 2013PLoSO...855119S . free .
- Sausen M, Leary RJ, Jones S, Wu J, Reynolds CP, Liu X, Blackford A, Parmigiani G, Diaz LA, Papadopoulos N, Vogelstein B, Kinzler KW, Velculescu VE, Hogarty MD . Integrated genomic analyses identify ARID1A and ARID1B alterations in the childhood cancer neuroblastoma . Nat. Genet. . 45 . 1 . 12–7 . January 2013 . 23202128 . 3557959 . 10.1038/ng.2493 .
- Shain AH, Giacomini CP, Matsukuma K, Karikari CA, Bashyam MD, Hidalgo M, Maitra A, Pollack JR . Convergent structural alterations define SWItch/Sucrose NonFermentable (SWI/SNF) chromatin remodeler as a central tumor suppressive complex in pancreatic cancer . Proc. Natl. Acad. Sci. U.S.A. . 109 . 5 . E252–9 . January 2012 . 22233809 . 3277150 . 10.1073/pnas.1114817109 . free .
- Fujimoto A, Totoki Y, Abe T, Boroevich KA, Hosoda F, Nguyen HH, Aoki M, Hosono N, Kubo M, Miya F, Arai Y, Takahashi H, Shirakihara T, Nagasaki M, Shibuya T, Nakano K, Watanabe-Makino K, Tanaka H, Nakamura H, Kusuda J, Ojima H, Shimada K, Okusaka T, Ueno M, Shigekawa Y, Kawakami Y, Arihiro K, Ohdan H, Gotoh K, Ishikawa O, Ariizumi S, Yamamoto M, Yamada T, Chayama K, Kosuge T, Yamaue H, Kamatani N, Miyano S, Nakagama H, Nakamura Y, Tsunoda T, Shibata T, Nakagawa H . Whole-genome sequencing of liver cancers identifies etiological influences on mutation patterns and recurrent mutations in chromatin regulators . Nat. Genet. . 44 . 7 . 760–4 . July 2012 . 22634756 . 10.1038/ng.2291 . 54585617 .
- Hurlstone AF, Olave IA, Barker N, van Noort M, Clevers H . Cloning and characterization of hELD/OSA1, a novel BRG1 interacting protein . Biochem. J. . 364 . Pt 1 . 255–64 . May 2002 . 11988099 . 1222568 . 10.1042/bj3640255.
- Inoue H, Furukawa T, Giannakopoulos S, Zhou S, King DS, Tanese N . Largest subunits of the human SWI/SNF chromatin-remodeling complex promote transcriptional activation by steroid hormone receptors . J. Biol. Chem. . 277 . 44 . 41674–85 . November 2002 . 12200431 . 10.1074/jbc.M205961200 . free .