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Arid1b

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Title: Arid1b  
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Arid1b

AT rich interactive domain 1B (SWI1-like)

PDB rendering based on 2cxy.
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols  ; 6A3-5; BAF250B; BRIGHT; DAN15; ELD/OSA1; MRD12; OSA2; P250R
External IDs GeneCards:
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)
RefSeq (protein)
Location (UCSC)
PubMed search

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.

Contents

  • Clinical significance 1
  • Interactions 2
  • References 3
  • Further reading 4
  • External links 5

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]

References

  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.  
  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.  
  4. ^ Shain AH, Pollack JR (2013). "The spectrum of SWI/SNF mutations, ubiquitous in human cancers". PLoS ONE 8 (1): e55119.  
  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.  
  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.  
  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.  
  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.  
  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.  

Further reading

  • Martens JA, Winston F (2003). "Recent advances in understanding chromatin remodeling by Swi/Snf complexes". Curr. Opin. Genet. Dev. 13 (2): 136–42.  
  • Bonaldo MF, Lennon G, Soares MB (1997). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Res. 6 (9): 791–806.  
  • Imbert G, Saudou F, Yvert G, et al. (1996). "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.  
  • Mangel L, Ternes T, Schmitz B, Doerfler W (1998). "New 5'-(CGG)n-3' repeats in the human genome". J. Biol. Chem. 273 (46): 30466–71.  
  • 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.  
  • Nagase T, Ishikawa K, Kikuno R, et al. (2000). "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.  
  • Xue Y, Canman JC, Lee CS, et al. (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.  
  • Kato H, Tjernberg A, Zhang W, et al. (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.  
  • Hurlstone AF, Olave IA, Barker N, et al. (2002). "Cloning and characterization of hELD/OSA1, a novel BRG1 interacting protein". Biochem. J. 364 (Pt 1): 255–64.  
  • Inoue H, Furukawa T, Giannakopoulos S, et al. (2003). "Largest subunits of the human SWI/SNF chromatin-remodeling complex promote transcriptional activation by steroid hormone receptors". J. Biol. Chem. 277 (44): 41674–85.  
  • Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "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.  
  • Nie Z, Yan Z, Chen EH, et al. (2003). "Novel SWI/SNF Chromatin-Remodeling Complexes Contain a Mixed-Lineage Leukemia Chromosomal Translocation Partner". Mol. Cell. Biol. 23 (8): 2942–52.  
  • Mungall AJ, Palmer SA, Sims SK, et al. (2003). "The DNA sequence and analysis of human chromosome 6". Nature 425 (6960): 805–11.  
  • Garin G, Badid C, McGregor B, et al. (2004). "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.  
  • Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5.  
  • Bouwmeester T, Bauch A, Ruffner H, et al. (2004). "A physical and functional map of the human TNF-alpha/NF-kappa B signal transduction pathway". Nat. Cell Biol. 6 (2): 97–105.  
  • Wilsker D, Patsialou A, Zumbrun SD, et al. (2004). "The DNA-binding properties of the ARID-containing subunits of yeast and mammalian SWI/SNF complexes". Nucleic Acids Res. 32 (4): 1345–53.  
  • Wang X, Nagl NG, Wilsker D, et al. (2005). "Two related ARID family proteins are alternative subunits of human SWI/SNF complexes". Biochem. J. 383 (Pt 2): 319–25.  
  • Colland F, Jacq X, Trouplin V, et al. (2004). "Functional Proteomics Mapping of a Human Signaling Pathway". Genome Res. 14 (7): 1324–32.  

External links

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