Biology:ARID1B
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Short description: Protein-coding gene in humans
 Generic protein structure example |
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]
References
- ↑ "Entrez Gene: ARID1B AT rich interactive domain 1B (SWI1-like)". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=57492.
- ↑ "Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome". Nat. Genet. 44 (4): 376–8. April 2012. doi:10.1038/ng.2219. PMID 22426308.
- ↑ "Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome". Nat. Genet. 44 (4): 379–80. April 2012. doi:10.1038/ng.2217. PMID 22426309.
- ↑ "The spectrum of SWI/SNF mutations, ubiquitous in human cancers". PLOS ONE 8 (1): e55119. 2013. doi:10.1371/journal.pone.0055119. PMID 23355908. Bibcode: 2013PLoSO...855119S.
- ↑ "Integrated genomic analyses identify ARID1A and ARID1B alterations in the childhood cancer neuroblastoma". Nat. Genet. 45 (1): 12–7. January 2013. doi:10.1038/ng.2493. PMID 23202128.
- ↑ "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. doi:10.1073/pnas.1114817109. PMID 22233809.
- ↑ "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. doi:10.1038/ng.2291. PMID 22634756.
- ↑ "Cloning and characterization of hELD/OSA1, a novel BRG1 interacting protein". Biochem. J. 364 (Pt 1): 255–64. May 2002. doi:10.1042/bj3640255. PMID 11988099.
- ↑ 9.0 9.1 "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. doi:10.1074/jbc.M205961200. PMID 12200431.
Further reading
- "Recent advances in understanding chromatin remodeling by Swi/Snf complexes". Curr. Opin. Genet. Dev. 13 (2): 136–42. 2003. doi:10.1016/S0959-437X(03)00022-4. PMID 12672490.
- "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Res. 6 (9): 791–806. 1997. doi:10.1101/gr.6.9.791. PMID 8889548.
- "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. doi:10.1038/ng1196-285. PMID 8896557.
- "New 5'-(CGG)n-3' repeats in the human genome". J. Biol. Chem. 273 (46): 30466–71. 1998. doi:10.1074/jbc.273.46.30466. PMID 9804814.
- "Reconstitution of a core chromatin remodeling complex from SWI/SNF subunits". Mol. Cell 3 (2): 247–53. 1999. doi:10.1016/S1097-2765(00)80315-9. PMID 10078207.
- "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. doi:10.1093/dnares/6.5.337. PMID 10574462.
- "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. doi:10.1073/pnas.240208597. PMID 11078522. Bibcode: 2000PNAS...9713015X.
- "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. doi:10.1074/jbc.M108702200. PMID 11734557.
- "Cloning and characterization of hELD/OSA1, a novel BRG1 interacting protein". Biochem. J. 364 (Pt 1): 255–64. 2002. doi:10.1042/bj3640255. PMID 11988099.
- "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. doi:10.1074/jbc.M205961200. PMID 12200431.
- "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. doi:10.1073/pnas.242603899. PMID 12477932. Bibcode: 2002PNAS...9916899M.
- "Novel SWI/SNF Chromatin-Remodeling Complexes Contain a Mixed-Lineage Leukemia Chromosomal Translocation Partner". Mol. Cell. Biol. 23 (8): 2942–52. 2003. doi:10.1128/MCB.23.8.2942-2952.2003. PMID 12665591.
- "The DNA sequence and analysis of human chromosome 6". Nature 425 (6960): 805–11. 2003. doi:10.1038/nature02055. PMID 14574404. Bibcode: 2003Natur.425..805M.
- "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. doi:10.1016/S0002-9440(10)63603-6. PMID 14633620.
- "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. 2004. doi:10.1038/ng1285. PMID 14702039.
- "A physical and functional map of the human TNF-alpha/NF-kappa B signal transduction pathway". Nat. Cell Biol. 6 (2): 97–105. 2004. doi:10.1038/ncb1086. PMID 14743216.
- "The DNA-binding properties of the ARID-containing subunits of yeast and mammalian SWI/SNF complexes". Nucleic Acids Res. 32 (4): 1345–53. 2004. doi:10.1093/nar/gkh277. PMID 14982958.
- "Two related ARID family proteins are alternative subunits of human SWI/SNF complexes". Biochem. J. 383 (Pt 2): 319–25. 2005. doi:10.1042/BJ20040524. PMID 15170388.
- "Functional Proteomics Mapping of a Human Signaling Pathway". Genome Res. 14 (7): 1324–32. 2004. doi:10.1101/gr.2334104. PMID 15231748.
External links
- ARID1B+protein,+human at the US National Library of Medicine Medical Subject Headings (MeSH)
- Human ARID1B genome location and ARID1B gene details page in the UCSC Genome Browser.
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This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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