| SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 | OKDB#: 4341 |
| Symbols: | SMARCB1 | Species: | human | ||
| Synonyms: | RDT, INI1, SNF5, Snr1, BAF47, RTPS1, Sfh1p, hSNFS, SNF5L1, | Locus: | 22q11.23 in Homo sapiens |
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| General Comment | NCBI Summary: 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. [provided by RefSeq] | ||||
| General function | |||||
| Comment | nucleosome remodeling | ||||
| Cellular localization | Nuclear | ||||
| Comment | |||||
| Ovarian function | Early embryo development | ||||
| Comment | Expression of SRG3, a chromatin-remodelling factor, in the mouse oocyte and early preimplantation embryos. Sun F et al. SRG3 (Smarcc1) is a core subunit of the SWI/SNF complex. In the absence of SRG3, embryonic development ceases during peri-implantation stages, indicating that SRG3, as well as the chromatin-remodelling process, plays an essential role in early mouse development. To gain a better understanding of chromatin remodelling during the early stages of development, we examined SRG3 expression during oogenesis and preimplantation stages using immunofluorescence and western blot assays. SRG3 was detected in nuclei of oocytes during growth and maturation. Following fertilization, SRG3 was detected in pronuclei shortly after their formation. Nuclear concentrations of SRG3 increased in a time-dependent fashion and were found to be greater in the male pronucleus than in the female pronucleus. The increase in nuclear SRG3 was partially inhibited by a protein synthesis inhibitor, but not by a transcriptional inhibitor. Expression of SRG3 is accompanied by expression of Brg1 and Ini1, two other core subunits of the SWI/SNF complex. The expression of these three remodelling factors parallels that of SP1 and TBP, both spatially and temporally, in the mouse embryo, suggesting a role for remodelling factors in chromatin structure and function during early development. | ||||
| Expression regulated by | |||||
| Comment | |||||
| Ovarian localization | Oocyte | ||||
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| Follicle stages | |||||
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| Phenotypes | |||||
| Mutations | 0 mutations | ||||
| Genomic Region | show genomic region | ||||
| Phenotypes and GWAS | show phenotypes and GWAS | ||||
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| created: | July 7, 2010, 4:45 p.m. | by: |
hsueh email:
home page: |
| last update: | July 7, 2010, 4:47 p.m. | by: | hsueh email: |
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