ARID1B

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AT rich interactive domain 1B (SWI1-like)

PDB rendering based on 2cxy.
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols ARID1B ; 6A3-5; BAF250B; BRIGHT; DAN15; ELD/OSA1; MRD12; OSA2; P250R
External IDs OMIM614556 MGI1926129 HomoloGene32344 GeneCards: ARID1B Gene
Orthologs
Species Human Mouse
Entrez 57492 239985
Ensembl ENSG00000049618 ENSMUSG00000069729
UniProt Q8NFD5 E9Q4N6
RefSeq (mRNA) NM_017519 NM_001085355
RefSeq (protein) NP_059989 NP_001078824
Location (UCSC) Chr 6:
157.1 – 157.53 Mb
Chr 17:
4.99 – 5.35 Mb
PubMed search [1] [2]

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[edit]

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[edit]

ARID1B has been shown to interact with SMARCA4[8][9] and SMARCA2.[9]

References[edit]

  1. ^ "Entrez Gene: ARID1B AT rich interactive domain 1B (SWI1-like)". 
  2. ^ 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 (April 2012). "Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome". Nat. Genet. 44 (4): 376–8. doi:10.1038/ng.2219. PMID 22426308. 
  3. ^ 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 (April 2012). "Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome". Nat. Genet. 44 (4): 379–80. doi:10.1038/ng.2217. PMID 22426309. 
  4. ^ Shain AH, Pollack JR (2013). "The spectrum of SWI/SNF mutations, ubiquitous in human cancers". PLoS ONE 8 (1): e55119. doi:10.1371/journal.pone.0055119. PMC 3552954. PMID 23355908. 
  5. ^ 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 (January 2013). "Integrated genomic analyses identify ARID1A and ARID1B alterations in the childhood cancer neuroblastoma". Nat. Genet. 45 (1): 12–7. doi:10.1038/ng.2493. PMC 3557959. PMID 23202128. 
  6. ^ Shain AH, Giacomini CP, Matsukuma K, Karikari CA, Bashyam MD, Hidalgo M, Maitra A, Pollack JR (January 2012). "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. doi:10.1073/pnas.1114817109. PMC 3277150. PMID 22233809. 
  7. ^ 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 (July 2012). "Whole-genome sequencing of liver cancers identifies etiological influences on mutation patterns and recurrent mutations in chromatin regulators". Nat. Genet. 44 (7): 760–4. doi:10.1038/ng.2291. PMID 22634756. 
  8. ^ Hurlstone AF, Olave IA, Barker N, van Noort M, Clevers H (May 2002). "Cloning and characterization of hELD/OSA1, a novel BRG1 interacting protein". Biochem. J. 364 (Pt 1): 255–64. PMC 1222568. PMID 11988099. 
  9. ^ a b Inoue H, Furukawa T, Giannakopoulos S, Zhou S, King DS, Tanese N (November 2002). "Largest subunits of the human SWI/SNF chromatin-remodeling complex promote transcriptional activation by steroid hormone receptors". J. Biol. Chem. 277 (44): 41674–85. doi:10.1074/jbc.M205961200. PMID 12200431. 

Further reading[edit]

External links[edit]

This article incorporates text from the United States National Library of Medicine, which is in the public domain.