Biology:SMARCB1
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Short description: Protein-coding gene in the species Homo sapiens
 Generic protein structure example |
SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1 is a protein that in humans is encoded by the SMARCB1 gene.[1][2][3]
Function
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]
Interactions
SMARCB1 has been shown to interact with:
- ARID1A,[5][6]
- BAZ1B,[7]
- BRCA1,[8]
- CREB-binding protein,[9]
- Cyclin-dependent kinase 8,[9]
- Myc,[2]
- P53,[10]
- POLR2A,[5][9][11]
- PPP1CA,[12]
- PPP1CB,[12]
- PPP1CC,[12]
- PPP1R15A,[12][13]
- SMARCA2,[5][11]
- SMARCA4,[5][11][14][15][16]
- SMARCC1,[5][11]
- SMARCE1,[5][14]
- SS18,[6] and
- XPO1.[17]
References
- ↑ "Binding and stimulation of HIV-1 integrase by a human homolog of yeast transcription factor SNF5". Science 266 (5193): 2002–6. January 1995. doi:10.1126/science.7801128. PMID 7801128.
- ↑ 2.0 2.1 "c-MYC interacts with INI1/hSNF5 and requires the SWI/SNF complex for transactivation function". Nat Genet 22 (1): 102–5. May 1999. doi:10.1038/8811. PMID 10319872.
- ↑ "Interaction of E1 and hSNF5 proteins stimulates replication of human papillomavirus DNA". Nature 399 (6735): 487–91. June 1999. doi:10.1038/20966. PMID 10365963. Bibcode: 1999Natur.399..487L.
- ↑ "Entrez Gene: SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6598.
- ↑ 5.0 5.1 5.2 5.3 5.4 5.5 "Purification and biochemical heterogeneity of the mammalian SWI-SNF complex". EMBO J. 15 (19): 5370–82. October 1996. doi:10.1002/j.1460-2075.1996.tb00921.x. PMID 8895581.
- ↑ 6.0 6.1 "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. February 2002. doi:10.1074/jbc.M108702200. PMID 11734557.
- ↑ "The chromatin-remodeling complex WINAC targets a nuclear receptor to promoters and is impaired in Williams syndrome". Cell 113 (7): 905–17. June 2003. doi:10.1016/s0092-8674(03)00436-7. PMID 12837248.
- ↑ "BRCA1 is associated with a human SWI/SNF-related complex: linking chromatin remodeling to breast cancer". Cell 102 (2): 257–65. July 2000. doi:10.1016/s0092-8674(00)00030-1. PMID 10943845.
- ↑ 9.0 9.1 9.2 "A human RNA polymerase II complex containing factors that modify chromatin structure". Mol. Cell. Biol. 18 (9): 5355–63. September 1998. doi:10.1128/MCB.18.9.5355. PMID 9710619.
- ↑ "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. June 2002. doi:10.1074/jbc.M111987200. PMID 11950834.
- ↑ 11.0 11.1 11.2 11.3 "Purification and characterization of mSin3A-containing Brg1 and hBrm chromatin remodeling complexes". Genes Dev. 15 (5): 603–18. March 2001. doi:10.1101/gad.872801. PMID 11238380.
- ↑ 12.0 12.1 12.2 12.3 "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. August 2002. doi:10.1074/jbc.M200955200. PMID 12016208.
- ↑ "Leukemic HRX fusion proteins inhibit GADD34-induced apoptosis and associate with the GADD34 and hSNF5/INI1 proteins". Mol. Cell. Biol. 19 (10): 7050–60. October 1999. doi:10.1128/mcb.19.10.7050. PMID 10490642.
- ↑ 14.0 14.1 "Rapid and phosphoinositol-dependent binding of the SWI/SNF-like BAF complex to chromatin after T lymphocyte receptor signaling". Cell 95 (5): 625–36. November 1998. doi:10.1016/s0092-8674(00)81633-5. PMID 9845365.
- ↑ "Transcriptional activation domains of human heat shock factor 1 recruit human SWI/SNF". Mol. Cell. Biol. 21 (17): 5826–37. September 2001. doi:10.1128/mcb.21.17.5826-5837.2001. PMID 11486022.
- ↑ "Fanconi anemia protein, FANCA, associates with BRG1, a component of the human SWI/SNF complex". Hum. Mol. Genet. 10 (23): 2651–60. November 2001. doi:10.1093/hmg/10.23.2651. PMID 11726552.
- ↑ "A masked NES in INI1/hSNF5 mediates hCRM1-dependent nuclear export: implications for tumorigenesis". EMBO J. 21 (1–2): 31–42. January 2002. doi:10.1093/emboj/21.1.31. PMID 11782423.
Further reading
- "HIV integration. Ini1 for integration?". Curr. Biol. 5 (4): 368–70. 1995. doi:10.1016/S0960-9822(95)00074-1. PMID 7627549.
- "HIV-1 integration: an interplay between HIV-1 integrase, cellular and viral proteins". AIDS Reviews 7 (1): 26–43. 2005. PMID 15875659.
- "Cellular co-factors of HIV-1 integration". Trends Biochem. Sci. 31 (2): 98–105. 2006. doi:10.1016/j.tibs.2005.12.002. PMID 16403635.
- "Immunohistochemistry of INI1 expression: a new tool for old challenges in CNS and soft tissue pathology". Advances in Anatomic Pathology 14 (5): 335–9. 2007. doi:10.1097/PAP.0b013e3180ca8b08. PMID 17717433.
- "A human protein with homology to Saccharomyces cerevisiae SNF5 interacts with the potential helicase hbrm". Nucleic Acids Res. 23 (7): 1127–32. 1995. doi:10.1093/nar/23.7.1127. PMID 7739891.
- "Epstein-Barr virus nuclear protein 2 (EBNA2) binds to a component of the human SNF-SWI complex, hSNF5/Ini1". J. Virol. 70 (9): 6020–8. 1996. doi:10.1128/JVI.70.9.6020-6028.1996. PMID 8709224.
- "Purification and biochemical heterogeneity of the mammalian SWI-SNF complex". EMBO J. 15 (19): 5370–82. 1996. doi:10.1002/j.1460-2075.1996.tb00921.x. PMID 8895581.
- "Structure-function analysis of integrase interactor 1/hSNF5L1 reveals differential properties of two repeat motifs present in the highly conserved region". Proc. Natl. Acad. Sci. U.S.A. 95 (3): 1120–5. 1998. doi:10.1073/pnas.95.3.1120. PMID 9448295. Bibcode: 1998PNAS...95.1120M.
- "Truncating mutations of hSNF5/INI1 in aggressive paediatric cancer". Nature 394 (6689): 203–6. 1998. doi:10.1038/28212. PMID 9671307. Bibcode: 1998Natur.394..203V.
- "A human RNA polymerase II complex containing factors that modify chromatin structure". Mol. Cell. Biol. 18 (9): 5355–63. 1998. doi:10.1128/MCB.18.9.5355. PMID 9710619.
- "Germ-line and acquired mutations of INI1 in atypical teratoid and rhabdoid tumors". Cancer Res. 59 (1): 74–9. 1999. PMID 9892189.
- "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.
- "The mouse ortholog of the human SMARCB1 gene encodes two splice forms". Biochem. Biophys. Res. Commun. 257 (3): 886–90. 1999. doi:10.1006/bbrc.1999.0563. PMID 10208879.
- "Leukemic HRX fusion proteins inhibit GADD34-induced apoptosis and associate with the GADD34 and hSNF5/INI1 proteins". Mol. Cell. Biol. 19 (10): 7050–60. 2000. doi:10.1128/mcb.19.10.7050. PMID 10490642.
- "Constitutional mutations of the hSNF5/INI1 gene predispose to a variety of cancers". Am. J. Hum. Genet. 65 (5): 1342–8. 1999. doi:10.1086/302639. PMID 10521299.
- "A C/EBP beta isoform recruits the SWI/SNF complex to activate myeloid genes". Mol. Cell 4 (5): 735–43. 2000. doi:10.1016/S1097-2765(00)80384-6. PMID 10619021.
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