SMARCB1

SMARCB1
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	5AJ1
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
Gene location (Human)
Chr.	Chromosome 22 (human)
End	23,838,009 bp
Gene location (Mouse)
Chr.	Chromosome 10 (mouse)
End	75,757,451 bp
RNA expression pattern
	Top expressed in
	ganglionic eminence; ; stromal cell of endometrium; ; islet of Langerhans; ; appendix; ; anterior pituitary; ; canal of the cervix; ; prefrontal cortex; ; right adrenal gland; ; cingulate gyrus; ; smooth muscle tissue;
	Top expressed in
	ganglionic eminence; ; external carotid artery; ; internal carotid artery; ; Paneth cell; ; medial ganglionic eminence; ; superior surface of tongue; ; fossa; ; condyle; ; somite; ; lip;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	RNA polymerase II cis-regulatory region sequence-specific DNA binding; DNA binding; RNA polymerase I core promoter sequence-specific DNA binding; transcription coactivator activity; p53 binding; Tat protein binding; protein binding; nucleosomal DNA binding;
Cellular component	nucleoplasm; nuclear chromosome; nucleolus; nucleus; fibrillar center; intracellular membrane-bounded organelle; SWI/SNF complex; npBAF complex; nBAF complex; protein-containing complex; brahma complex;
Biological process	positive regulation of glucose mediated signaling pathway; chromatin remodeling; regulation of transcription, DNA-templated; DNA integration; positive regulation of histone H3-K9 acetylation; regulation of transcription by RNA polymerase II; positive regulation of transcription of nucleolar large rRNA by RNA polymerase I; positive regulation of DNA-binding transcription factor activity; transcription, DNA-templated; nervous system development; nucleosome disassembly; positive regulation of histone H4 acetylation; single stranded viral RNA replication via double stranded DNA intermediate; cell cycle; negative regulation of histone H3-K9 trimethylation; regulation of histone H4-K16 acetylation; viral process; negative regulation of histone H3-K9 dimethylation; DNA repair; positive regulation by host of viral transcription; positive regulation of transcription by RNA polymerase II; negative regulation of cell population proliferation; cell differentiation; RNA polymerase I preinitiation complex assembly; chromatin organization;
	Sources:Amigo / QuickGO
Orthologs
	6598
	20587
	ENSG00000099956; ENSG00000275837
	ENSMUSG00000000902
	Q12824
	Q9Z0H3
	NM_001007468; NM_003073; NM_001317946; NM_001362877
	NM_001161853; NM_011418
	NP_001007469; NP_001304875; NP_003064; NP_001349806
	NP_001155325; NP_035548
	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 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.^[8]

Interactions edit

SMARCB1 has been shown to interact with:

References edit

^ ^a ^b ^c ENSG00000275837 GRCh38: Ensembl release 89: ENSG00000099956, ENSG00000275837 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000000902 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ 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.
^ ^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.
^ 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.
^ "Entrez Gene: SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1".
^ ^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.
^ ^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.
^ 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.
^ 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.
^ ^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.
^ 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.
^ ^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.
^ ^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.
^ 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.
^ ^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.
^ 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.
^ 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.
^ 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.

External links edit

FactorBook Ini1

[refGRCh38Ensembl-1] ENSG00000275837 GRCh38: Ensembl release 89: ENSG00000099956, ENSG00000275837 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000000902 – Ensembl, 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.

[pmid7801128-5] 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.

[pmid10319872-6] 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.

[pmid10365963-7] 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".

[pmid8895581-9] ^ ^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.

[pmid11734557-10] 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.

[pmid12837248-11] 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.

[pmid10943845-12] 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.

[pmid9710619-13] 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.

[pmid11950834-14] 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.

[pmid11238380-15] 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.

[pmid12016208-16] 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.

[pmid10490642-17] 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.

[pmid9845365-18] 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.

[pmid11486022-19] 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.

[pmid11726552-20] 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.

[pmid11782423-21] 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.

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SMARCB1

Contents

Function edit

Interactions edit

References edit

Further reading edit

External links edit