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Gene Review

SMARCB1  -  SWI/SNF related, matrix associated, actin...

Homo sapiens

Synonyms: BAF47, BRG1-associated factor 47, INI1, Ini1, Integrase interactor 1 protein, ...
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Disease relevance of SMARCB1


High impact information on SMARCB1

  • c-MYC interacts with INI1/hSNF5 and requires the SWI/SNF complex for transactivation function [6].
  • Our results suggest that the SWI/SNF complex is necessary for c-MYC-mediated transactivation and that the c-MYC-INI1 interaction helps recruit the complex [6].
  • Our results indicate that Ini1/hSNF5 is required for the efficient replication of papillomavirus DNA and is therefore needed, either alone or in complex with SWI/SNF complex, for mammalian DNA replication as well [7].
  • We analysed the sequence of hSNF5/INI1 and found frameshift or nonsense mutations of this gene in six other cell lines [8].
  • The hSNF5 subunit of human SWI/SNF ATP-dependent chromatin remodeling complexes is a tumor suppressor that is inactivated in malignant rhabdoid tumors (MRTs) [9].

Chemical compound and disease context of SMARCB1


Biological context of SMARCB1


Anatomical context of SMARCB1


Associations of SMARCB1 with chemical compounds


Physical interactions of SMARCB1

  • A search for INI1-interacting proteins using the two-hybrid system led to the isolation of c-MYC, a transactivator [6].
  • In the present report, we demonstrate that hSNF5/INI1 binds to GADD34 in part through the PP1 docking site within a domain homologous to herpes simplex virus-1 ICP34 [25].
  • We provide functional evidence that SMARCB1 is involved in prednisolone resistance and identified a promoter SNP that alters the level of SMARCB1 mRNA and protein expression and the binding of PARP1 to the SMARCB1 promoter [26].

Regulatory relationships of SMARCB1

  • Ini1/hSNF5 is dispensable for retrovirus-induced cytoplasmic accumulation of PML and does not interfere with integration [27].
  • Instead, p21CIP/WAF1 remained activated by hSNF5 in the absence of high p16INK4a expression, apparently causing the growth arrest in A204 [28].
  • In summary, our studies suggest that hSNF5 loss may influence the regulation of multiple CDK inhibitors involved in replicative senescence [28].
  • These observations demonstrate that INI1 has a masked NES that mediates regulated hCRM1/exportin1-dependent nuclear export and we propose that mutations that cause deregulated nuclear export of the protein could lead to tumorigenesis [29].
  • Chromatin immunoprecipitations indicated that hSNF5 activates p16(INK4a) transcription and CD44 down-regulation by mediating recruitment of the SWI/SNF complex [12].

Other interactions of SMARCB1


Analytical, diagnostic and therapeutic context of SMARCB1


  1. SMARCB1/INI1 tumor suppressor gene is frequently inactivated in epithelioid sarcomas. Modena, P., Lualdi, E., Facchinetti, F., Galli, L., Teixeira, M.R., Pilotti, S., Sozzi, G. Cancer Res. (2005) [Pubmed]
  2. A single-nucleotide polymorphism of SMARCB1 in human breast cancers. Mimori, K., Inoue, H., Shiraishi, T., Ueo, H., Mafune, K., Tanaka, Y., Mori, M. Genomics (2002) [Pubmed]
  3. The mouse ortholog of the human SMARCB1 gene encodes two splice forms. Bruder, C.E., Dumanski, J.P., Kedra, D. Biochem. Biophys. Res. Commun. (1999) [Pubmed]
  4. Germline mutation of INI1/SMARCB1 in familial schwannomatosis. Hulsebos, T.J., Plomp, A.S., Wolterman, R.A., Robanus-Maandag, E.C., Baas, F., Wesseling, P. Am. J. Hum. Genet. (2007) [Pubmed]
  5. Genomic analysis using high-density single nucleotide polymorphism-based oligonucleotide arrays and multiplex ligation-dependent probe amplification provides a comprehensive analysis of INI1/SMARCB1 in malignant rhabdoid tumors. Jackson, E.M., Sievert, A.J., Gai, X., Hakonarson, H., Judkins, A.R., Tooke, L., Perin, J.C., Xie, H., Shaikh, T.H., Biegel, J.A. Clin. Cancer Res. (2009) [Pubmed]
  6. c-MYC interacts with INI1/hSNF5 and requires the SWI/SNF complex for transactivation function. Cheng, S.W., Davies, K.P., Yung, E., Beltran, R.J., Yu, J., Kalpana, G.V. Nat. Genet. (1999) [Pubmed]
  7. Interaction of E1 and hSNF5 proteins stimulates replication of human papillomavirus DNA. Lee, D., Sohn, H., Kalpana, G.V., Choe, J. Nature (1999) [Pubmed]
  8. Truncating mutations of hSNF5/INI1 in aggressive paediatric cancer. Versteege, I., Sévenet, N., Lange, J., Rousseau-Merck, M.F., Ambros, P., Handgretinger, R., Aurias, A., Delattre, O. Nature (1998) [Pubmed]
  9. Cancer-associated mutations in chromatin remodeler hSNF5 promote chromosomal instability by compromising the mitotic checkpoint. Vries, R.G., Bezrookove, V., Zuijderduijn, L.M., Kia, S.K., Houweling, A., Oruetxebarria, I., Raap, A.K., Verrijzer, C.P. Genes Dev. (2005) [Pubmed]
  10. Structure-function analysis of integrase interactor 1/hSNF5L1 reveals differential properties of two repeat motifs present in the highly conserved region. Morozov, A., Yung, E., Kalpana, G.V. Proc. Natl. Acad. Sci. U.S.A. (1998) [Pubmed]
  11. The tumor suppressor hSNF5/INI1 modulates cell growth and actin cytoskeleton organization. Medjkane, S., Novikov, E., Versteege, I., Delattre, O. Cancer Res. (2004) [Pubmed]
  12. P16INK4a is required for hSNF5 chromatin remodeler-induced cellular senescence in malignant rhabdoid tumor cells. Oruetxebarria, I., Venturini, F., Kekarainen, T., Houweling, A., Zuijderduijn, L.M., Mohd-Sarip, A., Vries, R.G., Hoeben, R.C., Verrijzer, C.P. J. Biol. Chem. (2004) [Pubmed]
  13. Glycolate determination detects type I primary hyperoxaluria in dialysis patients. Marangella, M., Petrarulo, M., Bianco, O., Vitale, C., Finocchiaro, P., Linari, F. Kidney Int. (1991) [Pubmed]
  14. Thresholds of serum calcium oxalate supersaturation in relation to renal function in patients with or without primary hyperoxaluria. Marangella, M., Cosseddu, D., Petrarulo, M., Vitale, C., Linari, F. Nephrol. Dial. Transplant. (1993) [Pubmed]
  15. No evidence of INI1hSNF5 (SMARCB1) and PARVG point mutations in oligodendroglial neoplasms. Alonso, M.E., Bello, M.J., de Campos, J.M., Isla, A., Vaquero, J., Gutierrez, M., Sarasa, J.L., Rey, J.A. Cancer Genet. Cytogenet. (2005) [Pubmed]
  16. Characterization of SWI/SNF protein expression in human breast cancer cell lines and other malignancies. Decristofaro, M.F., Betz, B.L., Rorie, C.J., Reisman, D.N., Wang, W., Weissman, B.E. J. Cell. Physiol. (2001) [Pubmed]
  17. High frequency of alternative splicing of human genes participating in the HIV-1 life cycle: a model using TSG101, betaTrCP, PPIA, INI1, NAF1, and PML. Favre, M., Butticaz, C., Stevenson, B., Jongeneel, C.V., Telenti, A. J. Acquir. Immune Defic. Syndr. (2003) [Pubmed]
  18. Re-expression of hSNF5/INI1/BAF47 in pediatric tumor cells leads to G1 arrest associated with induction of p16ink4a and activation of RB. Betz, B.L., Strobeck, M.W., Reisman, D.N., Knudsen, E.S., Weissman, B.E. Oncogene (2002) [Pubmed]
  19. hSNF5/INI1-deficient tumours and rhabdoid tumours are convergent but not fully overlapping entities. Bourdeaut, F., Fréneaux, P., Thuille, B., Lellouch-Tubiana, A., Nicolas, A., Couturier, J., Pierron, G., Sainte-Rose, C., Bergeron, C., Bouvier, R., Rialland, X., Laurence, V., Michon, J., Sastre-Garau, X., Delattre, O. J. Pathol. (2007) [Pubmed]
  20. Germ-line and acquired mutations of INI1 in atypical teratoid and rhabdoid tumors. Biegel, J.A., Zhou, J.Y., Rorke, L.B., Stenstrom, C., Wainwright, L.M., Fogelgren, B. Cancer Res. (1999) [Pubmed]
  21. Chromatin remodeling factor encoded by ini1 induces G1 arrest and apoptosis in ini1-deficient cells. Ae, K., Kobayashi, N., Sakuma, R., Ogata, T., Kuroda, H., Kawaguchi, N., Shinomiya, K., Kitamura, Y. Oncogene (2002) [Pubmed]
  22. No evidence for hypermethylation of the hSNF5/INI1 promoter in pediatric rhabdoid tumors. Zhang, F., Tan, L., Wainwright, L.M., Bartolomei, M.S., Biegel, J.A. Genes Chromosomes Cancer (2002) [Pubmed]
  23. No evidence of hSNF5/INI1 point mutations in choroid plexus papilloma. Mueller, W., Eum, J.H., Lass, U., Paulus, W., Sarkar, C., Bruck, W., von Deimling, A. Neuropathol. Appl. Neurobiol. (2004) [Pubmed]
  24. Elimination of amino acids in renal failure. Druml, W., Fischer, M., Liebisch, B., Lenz, K., Roth, E. Am. J. Clin. Nutr. (1994) [Pubmed]
  25. 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. Wu, D.Y., Tkachuck, D.C., Roberson, R.S., Schubach, W.H. J. Biol. Chem. (2002) [Pubmed]
  26. Expression of SMARCB1 modulates steroid sensitivity in human lymphoblastoid cells: identification of a promoter SNP that alters PARP1 binding and SMARCB1 expression. Pottier, N., Cheok, M.H., Yang, W., Assem, M., Tracey, L., Obenauer, J.C., Panetta, J.C., Relling, M.V., Evans, W.E. Hum. Mol. Genet. (2007) [Pubmed]
  27. Ini1/hSNF5 is dispensable for retrovirus-induced cytoplasmic accumulation of PML and does not interfere with integration. Boese, A., Sommer, P., Gaussin, A., Reimann, A., Nehrbass, U. FEBS Lett. (2004) [Pubmed]
  28. Loss of the hSNF5 gene concomitantly inactivates p21CIP/WAF1 and p16INK4a activity associated with replicative senescence in A204 rhabdoid tumor cells. Chai, J., Charboneau, A.L., Betz, B.L., Weissman, B.E. Cancer Res. (2005) [Pubmed]
  29. A masked NES in INI1/hSNF5 mediates hCRM1-dependent nuclear export: implications for tumorigenesis. Craig, E., Zhang, Z.K., Davies, K.P., Kalpana, G.V. EMBO J. (2002) [Pubmed]
  30. Loss of the INI1 tumor suppressor does not impair the expression of multiple BRG1-dependent genes or the assembly of SWI/SNF enzymes. Doan, D.N., Veal, T.M., Yan, Z., Wang, W., Jones, S.N., Imbalzano, A.N. Oncogene (2004) [Pubmed]
  31. Establishment of a cell line from a malignant rhabdoid tumor of the liver lacking the function of two tumor suppressor genes, hSNF5/INI1 and p16. Kuroda, H., Moritake, H., Sawada, K., Kuwahara, Y., Imoto, I., Inazawa, J., Sugimoto, T. Cancer Genet. Cytogenet. (2005) [Pubmed]
  32. Intracytoplasmic maturation of the human immunodeficiency virus type 1 reverse transcription complexes determines their capacity to integrate into chromatin. Iordanskiy, S., Berro, R., Altieri, M., Kashanchi, F., Bukrinsky, M. Retrovirology (2006) [Pubmed]
  33. Atypical teratoid/rhabdoid tumors (ATRT): improved survival in children 3 years of age and older with radiation therapy and high-dose alkylator-based chemotherapy. Tekautz, T.M., Fuller, C.E., Blaney, S., Fouladi, M., Broniscer, A., Merchant, T.E., Krasin, M., Dalton, J., Hale, G., Kun, L.E., Wallace, D., Gilbertson, R.J., Gajjar, A. J. Clin. Oncol. (2005) [Pubmed]
  34. Absence of expression of SMARCB1/INI1 in malignant rhabdoid tumors of the central nervous system, kidneys and soft tissue: an immunohistochemical study with implications for diagnosis. Sigauke, E., Rakheja, D., Maddox, D.L., Hladik, C.L., White, C.L., Timmons, C.F., Raisanen, J. Mod. Pathol. (2006) [Pubmed]
  35. Novel germ-line deletion of SNF5/INI1/SMARCB1 gene in neonate presenting with congenital malignant rhabdoid tumor of kidney and brain primitive neuroectodermal tumor. Kusafuka, T., Miao, J., Yoneda, A., Kuroda, S., Fukuzawa, M. Genes Chromosomes Cancer (2004) [Pubmed]
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