SMARCB1

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.{{cite web | title = Entrez Gene: SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6598}}

SMARCB1 has been shown to interact with:

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• ARID1A,
• BAZ1B,{{cite journal | vauthors = 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 | title = The chromatin-remodeling complex WINAC targets a nuclear receptor to promoters and is impaired in Williams syndrome | journal = Cell | volume = 113 | issue = 7 | pages = 905–17 | date = June 2003 | pmid = 12837248 | doi = 10.1016/s0092-8674(03)00436-7| doi-access = free }}
• BRCA1,{{cite journal | vauthors = Bochar DA, Wang L, Beniya H, Kinev A, Xue Y, Lane WS, Wang W, Kashanchi F, Shiekhattar R | title = BRCA1 is associated with a human SWI/SNF-related complex: linking chromatin remodeling to breast cancer | journal = Cell | volume = 102 | issue = 2 | pages = 257–65 | date = July 2000 | pmid = 10943845 | doi = 10.1016/s0092-8674(00)00030-1| s2cid = 6500100 | doi-access = free }}
• CREB-binding protein,{{cite journal | vauthors = Cho H, Orphanides G, Sun X, Yang XJ, Ogryzko V, Lees E, Nakatani Y, Reinberg D | title = A human RNA polymerase II complex containing factors that modify chromatin structure | journal = Mol. Cell. Biol. | volume = 18 | issue = 9 | pages = 5355–63 | date = September 1998 | pmid = 9710619 | pmc = 109120 | doi = 10.1128/MCB.18.9.5355}}
• Cyclin-dependent kinase 8,
• Myc,
• P53,{{cite journal | vauthors = Lee D, Kim JW, Seo T, Hwang SG, Choi EJ, Choe J | title = SWI/SNF complex interacts with tumor suppressor p53 and is necessary for the activation of p53-mediated transcription | journal = J. Biol. Chem. | volume = 277 | issue = 25 | pages = 22330–7 | date = June 2002 | pmid = 11950834 | doi = 10.1074/jbc.M111987200 | doi-access =free }}
• POLR2A,{{cite journal | vauthors = Sif S, Saurin AJ, Imbalzano AN, Kingston RE | title = Purification and characterization of mSin3A-containing Brg1 and hBrm chromatin remodeling complexes | journal = Genes Dev. | volume = 15 | issue = 5 | pages = 603–18 | date = March 2001 | pmid = 11238380 | pmc = 312641 | doi = 10.1101/gad.872801 }}
• PPP1CA,
• PPP1CB,
• PPP1CC,
• PPP1R15A,{{cite journal | vauthors = Wu DY, Tkachuck DC, Roberson RS, Schubach WH | title = 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 | journal = J. Biol. Chem. | volume = 277 | issue = 31 | pages = 27706–15 | date = August 2002 | pmid = 12016208 | doi = 10.1074/jbc.M200955200 | doi-access = free }}{{cite journal | vauthors = Adler HT, Chinery R, Wu DY, Kussick SJ, Payne JM, Fornace AJ, Tkachuk DC | title = Leukemic HRX fusion proteins inhibit GADD34-induced apoptosis and associate with the GADD34 and hSNF5/INI1 proteins | journal = Mol. Cell. Biol. | volume = 19 | issue = 10 | pages = 7050–60 | date = October 1999 | pmid = 10490642 | pmc = 84700 | doi = 10.1128/mcb.19.10.7050}}
• SMARCA2,
• SMARCA4,{{cite journal | vauthors = Sullivan EK, Weirich CS, Guyon JR, Sif S, Kingston RE | title = Transcriptional activation domains of human heat shock factor 1 recruit human SWI/SNF | journal = Mol. Cell. Biol. | volume = 21 | issue = 17 | pages = 5826–37 | date = September 2001 | pmid = 11486022 | pmc = 87302 | doi = 10.1128/mcb.21.17.5826-5837.2001}}{{cite journal | vauthors = Otsuki T, Furukawa Y, Ikeda K, Endo H, Yamashita T, Shinohara A, Iwamatsu A, Ozawa K, Liu JM | title = Fanconi anemia protein, FANCA, associates with BRG1, a component of the human SWI/SNF complex | journal = Hum. Mol. Genet. | volume = 10 | issue = 23 | pages = 2651–60 | date = November 2001 | pmid = 11726552 | doi = 10.1093/hmg/10.23.2651| doi-access = free }}
• SMARCC1,
• SMARCE1,{{cite journal | vauthors = Wang W, Côté J, Xue Y, Zhou S, Khavari PA, Biggar SR, Muchardt C, Kalpana GV, Goff SP, Yaniv M, Workman JL, Crabtree GR | title = Purification and biochemical heterogeneity of the mammalian SWI-SNF complex | journal = EMBO J. | volume = 15 | issue = 19 | pages = 5370–82 | date = October 1996 | pmid = 8895581 | pmc = 452280 | doi = 10.1002/j.1460-2075.1996.tb00921.x}}{{cite journal | vauthors = Zhao K, Wang W, Rando OJ, Xue Y, Swiderek K, Kuo A, Crabtree GR | title = Rapid and phosphoinositol-dependent binding of the SWI/SNF-like BAF complex to chromatin after T lymphocyte receptor signaling | journal = Cell | volume = 95 | issue = 5 | pages = 625–36 | date = November 1998 | pmid = 9845365 | doi = 10.1016/s0092-8674(00)81633-5| s2cid = 3184211 | doi-access = free }}
• SS18,{{cite journal | vauthors = Kato H, Tjernberg A, Zhang W, Krutchinsky AN, An W, Takeuchi T, Ohtsuki Y, Sugano S, de Bruijn DR, Chait BT, Roeder RG | title = SYT associates with human SNF/SWI complexes and the C-terminal region of its fusion partner SSX1 targets histones | journal = J. Biol. Chem. | volume = 277 | issue = 7 | pages = 5498–505 | date = February 2002 | pmid = 11734557 | doi = 10.1074/jbc.M108702200 | doi-access = free | hdl = 2066/170683 | hdl-access = free }} and
• XPO1.{{cite journal | vauthors = Craig E, Zhang ZK, Davies KP, Kalpana GV | title = A masked NES in INI1/hSNF5 mediates hCRM1-dependent nuclear export: implications for tumorigenesis | journal = EMBO J. | volume = 21 | issue = 1–2 | pages = 31–42 | date = January 2002 | pmid = 11782423 | pmc = 125819 | doi = 10.1093/emboj/21.1.31 }}

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{{reflist}}

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• {{cite journal | vauthors = Miller MD, Bushman FD | title = HIV integration. Ini1 for integration? | journal = Curr. Biol. | volume = 5 | issue = 4 | pages = 368–70 | year = 1995 | pmid = 7627549 | doi = 10.1016/S0960-9822(95)00074-1 | s2cid = 17647431 | doi-access = free }}
• {{cite journal | vauthors = Van Maele B, Debyser Z | title = HIV-1 integration: an interplay between HIV-1 integrase, cellular and viral proteins | journal = AIDS Reviews | volume = 7 | issue = 1 | pages = 26–43 | year = 2005 | pmid = 15875659 }}
• {{cite journal | vauthors = Van Maele B, Busschots K, Vandekerckhove L, Christ F, Debyser Z | title = Cellular co-factors of HIV-1 integration | journal = Trends Biochem. Sci. | volume = 31 | issue = 2 | pages = 98–105 | year = 2006 | pmid = 16403635 | doi = 10.1016/j.tibs.2005.12.002 | url = https://biblio.ugent.be/publication/1206463/file/1207717 }}
• {{cite journal | vauthors = Judkins AR | title = Immunohistochemistry of INI1 expression: a new tool for old challenges in CNS and soft tissue pathology | journal = Advances in Anatomic Pathology | volume = 14 | issue = 5 | pages = 335–9 | year = 2007 | pmid = 17717433 | doi = 10.1097/PAP.0b013e3180ca8b08 | s2cid = 27654280 }}
• {{cite journal | vauthors = Muchardt C, Sardet C, Bourachot B, Onufryk C, Yaniv M | title = A human protein with homology to Saccharomyces cerevisiae SNF5 interacts with the potential helicase hbrm | journal = Nucleic Acids Res. | volume = 23 | issue = 7 | pages = 1127–32 | year = 1995 | pmid = 7739891 | pmc = 306820 | doi = 10.1093/nar/23.7.1127 }}
• {{cite journal | vauthors = Wu DY, Kalpana GV, Goff SP, Schubach WH | title = Epstein-Barr virus nuclear protein 2 (EBNA2) binds to a component of the human SNF-SWI complex, hSNF5/Ini1 | journal = J. Virol. | volume = 70 | issue = 9 | pages = 6020–8 | year = 1996 | doi = 10.1128/JVI.70.9.6020-6028.1996 | pmid = 8709224 | pmc = 190622 }}
• {{cite journal | vauthors = Wang W, Côté J, Xue Y, Zhou S, Khavari PA, Biggar SR, Muchardt C, Kalpana GV, Goff SP, Yaniv M, Workman JL, Crabtree GR | title = Purification and biochemical heterogeneity of the mammalian SWI-SNF complex | journal = EMBO J. | volume = 15 | issue = 19 | pages = 5370–82 | year = 1996 | pmid = 8895581 | pmc = 452280 | doi = 10.1002/j.1460-2075.1996.tb00921.x}}
• {{cite journal | vauthors = Morozov A, Yung E, Kalpana GV | title = Structure-function analysis of integrase interactor 1/hSNF5L1 reveals differential properties of two repeat motifs present in the highly conserved region | journal = Proc. Natl. Acad. Sci. U.S.A. | volume = 95 | issue = 3 | pages = 1120–5 | year = 1998 | pmid = 9448295 | pmc = 18693 | doi = 10.1073/pnas.95.3.1120 | bibcode = 1998PNAS...95.1120M | doi-access = free }}
• {{cite journal | vauthors = Versteege I, Sévenet N, Lange J, Rousseau-Merck MF, Ambros P, Handgretinger R, Aurias A, Delattre O | title = Truncating mutations of hSNF5/INI1 in aggressive paediatric cancer | journal = Nature | volume = 394 | issue = 6689 | pages = 203–6 | year = 1998 | pmid = 9671307 | doi = 10.1038/28212 | bibcode = 1998Natur.394..203V | s2cid = 6019090 }}
• {{cite journal | vauthors = Cho H, Orphanides G, Sun X, Yang XJ, Ogryzko V, Lees E, Nakatani Y, Reinberg D | title = A human RNA polymerase II complex containing factors that modify chromatin structure | journal = Mol. Cell. Biol. | volume = 18 | issue = 9 | pages = 5355–63 | year = 1998 | pmid = 9710619 | pmc = 109120 | doi = 10.1128/MCB.18.9.5355}}
• {{cite journal | vauthors = Biegel JA, Zhou JY, Rorke LB, Stenstrom C, Wainwright LM, Fogelgren B | title = Germ-line and acquired mutations of INI1 in atypical teratoid and rhabdoid tumors | journal = Cancer Res. | volume = 59 | issue = 1 | pages = 74–9 | year = 1999 | pmid = 9892189 }}
• {{cite journal | vauthors = Phelan ML, Sif S, Narlikar GJ, Kingston RE | title = Reconstitution of a core chromatin remodeling complex from SWI/SNF subunits | journal = Mol. Cell | volume = 3 | issue = 2 | pages = 247–53 | year = 1999 | pmid = 10078207 | doi = 10.1016/S1097-2765(00)80315-9 | doi-access = free }}
• {{cite journal | vauthors = Bruder CE, Dumanski JP, Kedra D | title = The mouse ortholog of the human SMARCB1 gene encodes two splice forms | journal = Biochem. Biophys. Res. Commun. | volume = 257 | issue = 3 | pages = 886–90 | year = 1999 | pmid = 10208879 | doi = 10.1006/bbrc.1999.0563 }}
• {{cite journal | vauthors = Adler HT, Chinery R, Wu DY, Kussick SJ, Payne JM, Fornace AJ, Tkachuk DC | title = Leukemic HRX fusion proteins inhibit GADD34-induced apoptosis and associate with the GADD34 and hSNF5/INI1 proteins | journal = Mol. Cell. Biol. | volume = 19 | issue = 10 | pages = 7050–60 | year = 2000 | pmid = 10490642 | pmc = 84700 | doi = 10.1128/mcb.19.10.7050}}
• {{cite journal | vauthors = Sévenet N, Sheridan E, Amram D, Schneider P, Handgretinger R, Delattre O | title = Constitutional mutations of the hSNF5/INI1 gene predispose to a variety of cancers | journal = Am. J. Hum. Genet. | volume = 65 | issue = 5 | pages = 1342–8 | year = 1999 | pmid = 10521299 | pmc = 1288286 | doi = 10.1086/302639 }}
• {{cite journal | vauthors = Kowenz-Leutz E, Leutz A | title = A C/EBP beta isoform recruits the SWI/SNF complex to activate myeloid genes | journal = Mol. Cell | volume = 4 | issue = 5 | pages = 735–43 | year = 2000 | pmid = 10619021 | doi = 10.1016/S1097-2765(00)80384-6 | doi-access = free }}

{{refend}}

• {{FactorBook|Ini1}}

Category:Tumor suppressor genes