SMARCB1

From Wikipedia, the free encyclopedia

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1

Identifiers

SMARCB1; BAF47; INI1; RDT; SNF5; SNF5L1; Sfh1p; Snr1; hSNFS

External IDs

OMIM: 601607 MGI: 1328366 HomoloGene: 2310

Gene ontology
Molecular Function:	• protein binding
Cellular Component:	• nuclear chromosome • nucleus • nucleoplasm • SWI/SNF complex
Biological Process:	• chromatin remodeling • transcription • regulation of transcription from RNA polymerase II promoter • cell cycle • DNA integration • retroviral genome replication • negative regulation of progression through cell cycle

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_001007468 (mRNA)
NP_001007469 (protein)

NM_011418 (mRNA)
NP_035548 (protein)

Location

Chr 22: 22.46 - 22.51 Mb

Chr 10: 75.34 - 75.37 Mb

Pubmed search

[1]

[2]

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1, also known as SMARCB1, is a human gene.

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.^[1]

[edit] References

^ Entrez Gene: SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1.

[edit] Further reading

Miller MD, Bushman FD (1995). "HIV integration. Ini1 for integration?". Curr. Biol. 5 (4): 368–70. PMID 7627549.
Van Maele B, Debyser Z (2005). "HIV-1 integration: an interplay between HIV-1 integrase, cellular and viral proteins.". AIDS reviews 7 (1): 26–43. PMID 15875659.
Van Maele B, Busschots K, Vandekerckhove L, et al. (2006). "Cellular co-factors of HIV-1 integration.". Trends Biochem. Sci. 31 (2): 98–105. doi:10.1016/j.tibs.2005.12.002. PMID 16403635.
Judkins AR (2007). "Immunohistochemistry of INI1 expression: a new tool for old challenges in CNS and soft tissue pathology.". Advances in anatomic pathology 14 (5): 335–9. doi:10.1097/PAP.0b013e3180ca8b08. PMID 17717433.
Muchardt C, Sardet C, Bourachot B, et al. (1995). "A human protein with homology to Saccharomyces cerevisiae SNF5 interacts with the potential helicase hbrm.". Nucleic Acids Res. 23 (7): 1127–32. PMID 7739891.
Kalpana GV, Marmon S, Wang W, et al. (1995). "Binding and stimulation of HIV-1 integrase by a human homolog of yeast transcription factor SNF5.". Science 266 (5193): 2002–6. PMID 7801128.
Wu DY, Kalpana GV, Goff SP, Schubach WH (1996). "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. PMID 8709224.
Wang W, Côté J, Xue Y, et al. (1996). "Purification and biochemical heterogeneity of the mammalian SWI-SNF complex.". EMBO J. 15 (19): 5370–82. PMID 8895581.
Morozov A, Yung E, Kalpana GV (1998). "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. PMID 9448295.
Versteege I, Sévenet N, Lange J, et al. (1998). "Truncating mutations of hSNF5/INI1 in aggressive paediatric cancer.". Nature 394 (6689): 203–6. doi:10.1038/28212. PMID 9671307.
Cho H, Orphanides G, Sun X, et al. (1998). "A human RNA polymerase II complex containing factors that modify chromatin structure.". Mol. Cell. Biol. 18 (9): 5355–63. PMID 9710619.
Biegel JA, Zhou JY, Rorke LB, et al. (1999). "Germ-line and acquired mutations of INI1 in atypical teratoid and rhabdoid tumors.". Cancer Res. 59 (1): 74–9. PMID 9892189.
Phelan ML, Sif S, Narlikar GJ, Kingston RE (1999). "Reconstitution of a core chromatin remodeling complex from SWI/SNF subunits.". Mol. Cell 3 (2): 247–53. PMID 10078207.
Bruder CE, Dumanski JP, Kedra D (1999). "The mouse ortholog of the human SMARCB1 gene encodes two splice forms.". Biochem. Biophys. Res. Commun. 257 (3): 886–90. doi:10.1006/bbrc.1999.0563. PMID 10208879.
Cheng SW, Davies KP, Yung E, et al. (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.
Lee D, Sohn H, Kalpana GV, Choe J (1999). "Interaction of E1 and hSNF5 proteins stimulates replication of human papillomavirus DNA.". Nature 399 (6735): 487–91. doi:10.1038/20966. PMID 10365963.
Adler HT, Chinery R, Wu DY, et al. (2000). "Leukemic HRX fusion proteins inhibit GADD34-induced apoptosis and associate with the GADD34 and hSNF5/INI1 proteins.". Mol. Cell. Biol. 19 (10): 7050–60. PMID 10490642.
Sévenet N, Sheridan E, Amram D, et al. (1999). "Constitutional mutations of the hSNF5/INI1 gene predispose to a variety of cancers.". Am. J. Hum. Genet. 65 (5): 1342–8. PMID 10521299.
Kowenz-Leutz E, Leutz A (2000). "A C/EBP beta isoform recruits the SWI/SNF complex to activate myeloid genes.". Mol. Cell 4 (5): 735–43. PMID 10619021.