SMARCB1

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SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
Identifiers
Symbols SMARCB1 ; BAF47; INI1; MRD15; RDT; RTPS1; SNF5; SNF5L1; Sfh1p; Snr1; hSNFS
External IDs OMIM601607 MGI1328366 HomoloGene2310 GeneCards: SMARCB1 Gene
RNA expression pattern
PBB GE SMARCB1 212167 s at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 6598 20587
Ensembl ENSG00000099956 ENSMUSG00000000902
UniProt Q12824 Q9Z0H3
RefSeq (mRNA) NM_001007468 NM_001161853
RefSeq (protein) NP_001007469 NP_001155325
Location (UCSC) Chr 22:
24.13 – 24.18 Mb
Chr 10:
75.9 – 75.92 Mb
PubMed search [1] [2]

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]

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[edit]

SMARCB1 has been shown to interact with PPP1R15A,[5][6] XPO1,[7] Myc,[2] SMARCE1,[8][9] CREB-binding protein,[10] Cyclin-dependent kinase 8,[10] BRCA1,[11] PPP1CB,[6] PPP1CA,[6] BAZ1B,[12] PPP1CC,[6] SS18,[13] POLR2A,[8][10][14] SMARCA2,[8][14] P53,[15] SMARCC1,[8][14] SMARCA4[8][9][14][16][17] and ARID1A.[8][13]

References[edit]

  1. ^ 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. PMID 7801128. 
  2. ^ a b Cheng 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. PMID 10319872. 
  3. ^ 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. PMID 10365963. 
  4. ^ "Entrez Gene: SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1". 
  5. ^ Adler, H T; Chinery R, Wu D Y, Kussick S J, Payne J M, Fornace A J, Tkachuk D C (October 1999). "Leukemic HRX fusion proteins inhibit GADD34-induced apoptosis and associate with the GADD34 and hSNF5/INI1 proteins". Mol. Cell. Biol. (UNITED STATES) 19 (10): 7050–60. ISSN 0270-7306. PMC 84700. PMID 10490642. 
  6. ^ a b c d Wu, Daniel Y; Tkachuck Douglas C, Roberson Rachel S, Schubach William H (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. (United States) 277 (31): 27706–15. doi:10.1074/jbc.M200955200. ISSN 0021-9258. PMID 12016208. 
  7. ^ Craig, Errol; Zhang Zhi-Kai, Davies Kelvin P, Kalpana Ganjam V (January 2002). "A masked NES in INI1/hSNF5 mediates hCRM1-dependent nuclear export: implications for tumorigenesis". EMBO J. (England) 21 (1–2): 31–42. doi:10.1093/emboj/21.1.31. ISSN 0261-4189. PMC 125819. PMID 11782423. 
  8. ^ a b c d e f Wang, W; Côté J, Xue Y, Zhou S, Khavari P A, Biggar S R, Muchardt C, Kalpana G V, Goff S P, Yaniv M, Workman J L, Crabtree G R (October 1996). "Purification and biochemical heterogeneity of the mammalian SWI-SNF complex". EMBO J. (ENGLAND) 15 (19): 5370–82. ISSN 0261-4189. PMC 452280. PMID 8895581. 
  9. ^ a b Zhao, K; Wang W, Rando O J, Xue Y, Swiderek K, Kuo A, Crabtree G R (November 1998). "Rapid and phosphoinositol-dependent binding of the SWI/SNF-like BAF complex to chromatin after T lymphocyte receptor signaling". Cell (UNITED STATES) 95 (5): 625–36. doi:10.1016/S0092-8674(00)81633-5. ISSN 0092-8674. PMID 9845365. 
  10. ^ a b c Cho, H; Orphanides G, Sun X, Yang X J, Ogryzko V, Lees E, Nakatani Y, Reinberg D (September 1998). "A human RNA polymerase II complex containing factors that modify chromatin structure". Mol. Cell. Biol. (UNITED STATES) 18 (9): 5355–63. ISSN 0270-7306. PMC 109120. PMID 9710619. 
  11. ^ Bochar, D A; Wang L, Beniya H, Kinev A, Xue Y, Lane W S, 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 (UNITED STATES) 102 (2): 257–65. doi:10.1016/S0092-8674(00)00030-1. ISSN 0092-8674. PMID 10943845. 
  12. ^ Kitagawa, Hirochika; Fujiki Ryoji, Yoshimura Kimihiro, Mezaki Yoshihiro, Uematsu Yoshikatsu, Matsui Daisuke, Ogawa Satoko, Unno Kiyoe, Okubo Mataichi, Tokita Akifumi, Nakagawa Takeya, Ito Takashi, Ishimi Yukio, Nagasawa Hiromichi, Matsumoto Toshio, Yanagisawa Junn, Kato Shigeaki (June 2003). "The chromatin-remodeling complex WINAC targets a nuclear receptor to promoters and is impaired in Williams syndrome". Cell (United States) 113 (7): 905–17. doi:10.1016/S0092-8674(03)00436-7. ISSN 0092-8674. PMID 12837248. 
  13. ^ a b Kato, Hiroyuki; Tjernberg Agneta, Zhang Wenzhu, Krutchinsky Andrew N, An Woojin, Takeuchi Tamotsu, Ohtsuki Yuji, Sugano Sumio, de Bruijn Diederik R, Chait Brian T, Roeder Robert G (February 2002). "SYT associates with human SNF/SWI complexes and the C-terminal region of its fusion partner SSX1 targets histones". J. Biol. Chem. (United States) 277 (7): 5498–505. doi:10.1074/jbc.M108702200. ISSN 0021-9258. PMID 11734557. 
  14. ^ a b c d Sif, S; Saurin A J, Imbalzano A N, Kingston R E (March 2001). "Purification and characterization of mSin3A-containing Brg1 and hBrm chromatin remodeling complexes". Genes Dev. (United States) 15 (5): 603–18. doi:10.1101/gad.872801. ISSN 0890-9369. PMC 312641. PMID 11238380. 
  15. ^ Lee, Daeyoup; Kim Jin Woo, Seo Taegun, Hwang Sun Gwan, Choi Eui-Ju, Choe Joonho (June 2002). "SWI/SNF complex interacts with tumor suppressor p53 and is necessary for the activation of p53-mediated transcription". J. Biol. Chem. (United States) 277 (25): 22330–7. doi:10.1074/jbc.M111987200. ISSN 0021-9258. PMID 11950834. 
  16. ^ Sullivan, E K; Weirich C S, Guyon J R, Sif S, Kingston R E (September 2001). "Transcriptional activation domains of human heat shock factor 1 recruit human SWI/SNF". Mol. Cell. Biol. (United States) 21 (17): 5826–37. doi:10.1128/MCB.21.17.5826-5837.2001. ISSN 0270-7306. PMC 87302. PMID 11486022. 
  17. ^ Otsuki, T; Furukawa Y, Ikeda K, Endo H, Yamashita T, Shinohara A, Iwamatsu A, Ozawa K, Liu J M (November 2001). "Fanconi anemia protein, FANCA, associates with BRG1, a component of the human SWI/SNF complex". Hum. Mol. Genet. (England) 10 (23): 2651–60. doi:10.1093/hmg/10.23.2651. ISSN 0964-6906. PMID 11726552. 

Further reading[edit]

External links[edit]