From Wikipedia, the free encyclopedia
(Redirected from SMARCB1 (gene))
SMARCB1
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
Aliases SMARCB1, BAF47, INI1, MRD15, PPP1R144, RDT, RTPS1, SNF5, SNF5L1, SWNTS1, Sfh1p, Snr1, hSNFS, CSS3, SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1, INI-1
External IDs OMIM: 601607; MGI: 1328366; HomoloGene: 2310; GeneCards: SMARCB1; OMA: SMARCB1 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001007468
NM_003073
NM_001317946
NM_001362877

NM_001161853
NM_011418

RefSeq (protein)

NP_001007469
NP_001304875
NP_003064
NP_001349806

NP_001155325
NP_035548

Location (UCSC) Chr 22: 23.79 – 23.84 Mb Chr 10: 75.73 – 75.76 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

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. [5] [6] [7]

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. [8]

Interactions

SMARCB1 has been shown to interact with:

References

  1. ^ a b c ENSG00000275837 GRCh38: Ensembl release 89: ENSG00000099956, ENSG00000275837Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000000902Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ 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.
  6. ^ 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. S2CID  12945791.
  7. ^ 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. Bibcode: 1999Natur.399..487L. doi: 10.1038/20966. PMID  10365963. S2CID  4414296.
  8. ^ "Entrez Gene: SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1".
  9. ^ a b c d e f Wang W, Côté J, Xue Y, Zhou S, Khavari PA, Biggar SR, Muchardt C, Kalpana GV, Goff SP, Yaniv M, Workman JL, Crabtree GR (October 1996). "Purification and biochemical heterogeneity of the mammalian SWI-SNF complex". EMBO J. 15 (19): 5370–82. doi: 10.1002/j.1460-2075.1996.tb00921.x. PMC  452280. PMID  8895581.
  10. ^ a b Kato H, Tjernberg A, Zhang W, Krutchinsky AN, An W, Takeuchi T, Ohtsuki Y, Sugano S, de Bruijn DR, Chait BT, Roeder RG (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. hdl: 2066/170683. PMID  11734557.
  11. ^ 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 (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.
  12. ^ Bochar DA, Wang L, Beniya H, Kinev A, Xue Y, Lane WS, 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. 102 (2): 257–65. doi: 10.1016/s0092-8674(00)00030-1. PMID  10943845. S2CID  6500100.
  13. ^ a b c Cho H, Orphanides G, Sun X, Yang XJ, 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. 18 (9): 5355–63. doi: 10.1128/MCB.18.9.5355. PMC  109120. PMID  9710619.
  14. ^ 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.
  15. ^ 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.
  16. ^ 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.
  17. ^ Adler HT, Chinery R, Wu DY, Kussick SJ, Payne JM, Fornace AJ, Tkachuk DC (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. doi: 10.1128/mcb.19.10.7050. PMC  84700. PMID  10490642.
  18. ^ a b Zhao K, Wang W, Rando OJ, Xue Y, Swiderek K, Kuo A, Crabtree GR (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. S2CID  3184211.
  19. ^ 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.
  20. ^ Otsuki T, Furukawa Y, Ikeda K, Endo H, Yamashita T, Shinohara A, Iwamatsu A, Ozawa K, Liu JM (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.
  21. ^ 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

External links

From Wikipedia, the free encyclopedia
(Redirected from SMARCB1 (gene))
SMARCB1
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
Aliases SMARCB1, BAF47, INI1, MRD15, PPP1R144, RDT, RTPS1, SNF5, SNF5L1, SWNTS1, Sfh1p, Snr1, hSNFS, CSS3, SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1, INI-1
External IDs OMIM: 601607; MGI: 1328366; HomoloGene: 2310; GeneCards: SMARCB1; OMA: SMARCB1 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001007468
NM_003073
NM_001317946
NM_001362877

NM_001161853
NM_011418

RefSeq (protein)

NP_001007469
NP_001304875
NP_003064
NP_001349806

NP_001155325
NP_035548

Location (UCSC) Chr 22: 23.79 – 23.84 Mb Chr 10: 75.73 – 75.76 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

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. [5] [6] [7]

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. [8]

Interactions

SMARCB1 has been shown to interact with:

References

  1. ^ a b c ENSG00000275837 GRCh38: Ensembl release 89: ENSG00000099956, ENSG00000275837Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000000902Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ 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.
  6. ^ 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. S2CID  12945791.
  7. ^ 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. Bibcode: 1999Natur.399..487L. doi: 10.1038/20966. PMID  10365963. S2CID  4414296.
  8. ^ "Entrez Gene: SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1".
  9. ^ a b c d e f Wang W, Côté J, Xue Y, Zhou S, Khavari PA, Biggar SR, Muchardt C, Kalpana GV, Goff SP, Yaniv M, Workman JL, Crabtree GR (October 1996). "Purification and biochemical heterogeneity of the mammalian SWI-SNF complex". EMBO J. 15 (19): 5370–82. doi: 10.1002/j.1460-2075.1996.tb00921.x. PMC  452280. PMID  8895581.
  10. ^ a b Kato H, Tjernberg A, Zhang W, Krutchinsky AN, An W, Takeuchi T, Ohtsuki Y, Sugano S, de Bruijn DR, Chait BT, Roeder RG (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. hdl: 2066/170683. PMID  11734557.
  11. ^ 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 (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.
  12. ^ Bochar DA, Wang L, Beniya H, Kinev A, Xue Y, Lane WS, 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. 102 (2): 257–65. doi: 10.1016/s0092-8674(00)00030-1. PMID  10943845. S2CID  6500100.
  13. ^ a b c Cho H, Orphanides G, Sun X, Yang XJ, 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. 18 (9): 5355–63. doi: 10.1128/MCB.18.9.5355. PMC  109120. PMID  9710619.
  14. ^ 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.
  15. ^ 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.
  16. ^ 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.
  17. ^ Adler HT, Chinery R, Wu DY, Kussick SJ, Payne JM, Fornace AJ, Tkachuk DC (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. doi: 10.1128/mcb.19.10.7050. PMC  84700. PMID  10490642.
  18. ^ a b Zhao K, Wang W, Rando OJ, Xue Y, Swiderek K, Kuo A, Crabtree GR (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. S2CID  3184211.
  19. ^ 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.
  20. ^ Otsuki T, Furukawa Y, Ikeda K, Endo H, Yamashita T, Shinohara A, Iwamatsu A, Ozawa K, Liu JM (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.
  21. ^ 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

External links


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