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; PPP1R144; RDT; RTPS1; SNF5; SNF5L1; SWNTS1; 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:
23.79 – 23.83 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]

Function[edit]

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:

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. ^ a b c d e f Wang W, Côté J, Xue Y, Zhou S, Khavari PA, Biggar SR et al. (October 1996). "Purification and biochemical heterogeneity of the mammalian SWI-SNF complex". EMBO J. 15 (19): 5370–82. PMC 452280. PMID 8895581. 
  6. ^ a b Kato H, Tjernberg A, Zhang W, Krutchinsky AN, An W, Takeuchi T et al. (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. PMID 11734557. 
  7. ^ Kitagawa H, Fujiki R, Yoshimura K, Mezaki Y, Uematsu Y, Matsui D et al. (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. PMID 12837248. 
  8. ^ Bochar DA, Wang L, Beniya H, Kinev A, Xue Y, Lane WS et al. (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. PMID 10943845. 
  9. ^ a b c Cho H, Orphanides G, Sun X, Yang XJ, Ogryzko V, Lees E et al. (September 1998). "A human RNA polymerase II complex containing factors that modify chromatin structure". Mol. Cell. Biol. 18 (9): 5355–63. PMC 109120. PMID 9710619. 
  10. ^ 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. PMID 11950834. 
  11. ^ a b c d Sif S, Saurin AJ, Imbalzano AN, Kingston RE (March 2001). "Purification and characterization of mSin3A-containing Brg1 and hBrm chromatin remodeling complexes". Genes Dev. 15 (5): 603–18. doi:10.1101/gad.872801. PMC 312641. PMID 11238380. 
  12. ^ a b c d Wu 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. PMID 12016208. 
  13. ^ Adler HT, Chinery R, Wu DY, Kussick SJ, Payne JM, Fornace AJ et al. (October 1999). "Leukemic HRX fusion proteins inhibit GADD34-induced apoptosis and associate with the GADD34 and hSNF5/INI1 proteins". Mol. Cell. Biol. 19 (10): 7050–60. PMC 84700. PMID 10490642. 
  14. ^ a b Zhao K, Wang W, Rando OJ, Xue Y, Swiderek K, Kuo A et al. (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. PMID 9845365. 
  15. ^ Sullivan EK, Weirich CS, Guyon JR, Sif S, Kingston RE (September 2001). "Transcriptional activation domains of human heat shock factor 1 recruit human SWI/SNF". Mol. Cell. Biol. 21 (17): 5826–37. doi:10.1128/mcb.21.17.5826-5837.2001. PMC 87302. PMID 11486022. 
  16. ^ Otsuki T, Furukawa Y, Ikeda K, Endo H, Yamashita T, Shinohara A et al. (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. PMID 11726552. 
  17. ^ Craig E, Zhang ZK, Davies KP, Kalpana GV (January 2002). "A masked NES in INI1/hSNF5 mediates hCRM1-dependent nuclear export: implications for tumorigenesis". EMBO J. 21 (1-2): 31–42. doi:10.1093/emboj/21.1.31. PMC 125819. PMID 11782423. 

Further reading[edit]

External links[edit]