SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1 is a protein that in humans is encoded by the SMARCB1gene.[1][2][3]
The protein encoded by this gene is part of a complex that relieves repressive chromatin structures, allowing the transcriptional machinery to access its targets more effectively. The encoded nuclear protein may also bind to and enhance the DNA joining activity of HIV-1 integrase. This gene has been found to be a tumor suppressor, and mutations in it have been associated with malignant rhabdoid tumors. Two transcript variants encoding different isoforms have been found for this gene.[4]
↑Kalpana GV, Marmon S, Wang W, Crabtree GR, Goff SP (January 1995). "Binding and stimulation of HIV-1 integrase by a human homolog of yeast transcription factor SNF5". Science. 266 (5193): 2002–6. doi:10.1126/science.7801128. PMID7801128.
↑ 2.02.1Cheng SW, Davies KP, Yung E, Beltran RJ, Yu J, Kalpana GV (May 1999). "c-MYC interacts with INI1/hSNF5 and requires the SWI/SNF complex for transactivation function". Nat Genet. 22 (1): 102–5. doi:10.1038/8811. PMID10319872.
↑Lee D, Sohn H, Kalpana GV, Choe J (June 1999). "Interaction of E1 and hSNF5 proteins stimulates replication of human papillomavirus DNA". Nature. 399 (6735): 487–91. doi:10.1038/20966. PMID10365963.
↑ 6.06.1Kato H, Tjernberg A, Zhang W, Krutchinsky AN, An W, Takeuchi T, Ohtsuki Y, Sugano S, de Bruijn DR, Chait BT, Roeder RG (February 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. PMID11734557.
↑Kitagawa H, Fujiki R, Yoshimura K, Mezaki Y, Uematsu Y, Matsui D, Ogawa S, Unno K, Okubo M, Tokita A, Nakagawa T, Ito T, Ishimi Y, Nagasawa H, Matsumoto T, Yanagisawa J, Kato S (June 2003). "The chromatin-remodeling complex WINAC targets a nuclear receptor to promoters and is impaired in Williams syndrome". Cell. 113 (7): 905–17. doi:10.1016/s0092-8674(03)00436-7. PMID12837248.
↑Bochar DA, Wang L, Beniya H, Kinev A, Xue Y, Lane WS, Wang W, Kashanchi F, Shiekhattar R (July 2000). "BRCA1 is associated with a human SWI/SNF-related complex: linking chromatin remodeling to breast cancer". Cell. 102 (2): 257–65. doi:10.1016/s0092-8674(00)00030-1. PMID10943845.
↑Lee D, Kim JW, Seo T, Hwang SG, Choi EJ, Choe J (June 2002). "SWI/SNF complex interacts with tumor suppressor p53 and is necessary for the activation of p53-mediated transcription". J. Biol. Chem. 277 (25): 22330–7. doi:10.1074/jbc.M111987200. PMID11950834.
↑ 12.012.112.212.3Wu DY, Tkachuck DC, Roberson RS, Schubach WH (August 2002). "The human SNF5/INI1 protein facilitates the function of the growth arrest and DNA damage-inducible protein (GADD34) and modulates GADD34-bound protein phosphatase-1 activity". J. Biol. Chem. 277 (31): 27706–15. doi:10.1074/jbc.M200955200. PMID12016208.
↑ 14.014.1Zhao K, Wang W, Rando OJ, Xue Y, Swiderek K, Kuo A, Crabtree GR (November 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. PMID9845365.
↑Otsuki T, Furukawa Y, Ikeda K, Endo H, Yamashita T, Shinohara A, Iwamatsu A, Ozawa K, Liu JM (November 2001). "Fanconi anemia protein, FANCA, associates with BRG1, a component of the human SWI/SNF complex". Hum. Mol. Genet. 10 (23): 2651–60. doi:10.1093/hmg/10.23.2651. PMID11726552.
Van Maele B, Debyser Z (2005). "HIV-1 integration: an interplay between HIV-1 integrase, cellular and viral proteins". AIDS reviews. 7 (1): 26–43. PMID15875659.
Van Maele B, Busschots K, Vandekerckhove L, Christ F, Debyser Z (2006). "Cellular co-factors of HIV-1 integration". Trends Biochem. Sci. 31 (2): 98–105. doi:10.1016/j.tibs.2005.12.002. PMID16403635.
Judkins AR (2007). "Immunohistochemistry of INI1 expression: a new tool for old challenges in CNS and soft tissue pathology". Advances in Anatomic Pathology. 14 (5): 335–9. doi:10.1097/PAP.0b013e3180ca8b08. PMID17717433.
Versteege I, Sévenet N, Lange J, Rousseau-Merck MF, Ambros P, Handgretinger R, Aurias A, Delattre O (1998). "Truncating mutations of hSNF5/INI1 in aggressive paediatric cancer". Nature. 394 (6689): 203–6. doi:10.1038/28212. PMID9671307.
Biegel JA, Zhou JY, Rorke LB, Stenstrom C, Wainwright LM, Fogelgren B (1999). "Germ-line and acquired mutations of INI1 in atypical teratoid and rhabdoid tumors". Cancer Res. 59 (1): 74–9. PMID9892189.
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. PMID10078207.
Bruder CE, Dumanski JP, Kedra D (1999). "The mouse ortholog of the human SMARCB1 gene encodes two splice forms". Biochem. Biophys. Res. Commun. 257 (3): 886–90. doi:10.1006/bbrc.1999.0563. PMID10208879.
Kowenz-Leutz E, Leutz A (2000). "A C/EBP beta isoform recruits the SWI/SNF complex to activate myeloid genes". Mol. Cell. 4 (5): 735–43. doi:10.1016/S1097-2765(00)80384-6. PMID10619021.