Go Annotations as Summary Text (Tabular View) (GO Graph)

GO curators for mouse genes have assigned the following annotations to the gene product of Smarcb1. (This text reflects annotations as of Wednesday, January 23, 2013.) MGI curation of this mouse gene is considered complete, including annotations derived from the biomedical literature as of December 13, 2007. If you know of any additional information regarding this mouse gene please let us know. Please supply mouse gene symbol and a PubMed ID.

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Summary from NCBI RefSeq

[Summary is not available for the mouse gene. This summary is for the human ortholog.] 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, Jul 2008]

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Summary text based on GO annotations supported by experimental evidence in mouse

• Researchers have inferred from direct assay, that the gene product of Smarcb1
  • is located in the following cellular components:
    • nBAF complex ^[6]
    • npBAF complex ^[6]
    • nucleus ^[2]
    • SWI/SNF complex ^[1]
    • XY body ^[2]
• The gene product of Smarcb1 has been shown to bind to the gene products of Arid1a, Mael, Smarca4, Smarcc1, Smarce1. ^{[1, 2, 8]}
• Researchers have inferred, based on phenotypic analysis of mouse mutants, that the gene product of Smarcb1
  • participates in the following biological processes:
    • blastocyst development ^{[4, 5]}
    • blastocyst hatching ^{[4, 5]}
    • cell differentiation ^[3]
    • negative regulation of cell proliferation ^{[4, 5, 7]}

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Summary text based on GO annotations supported by experimental evidence in other organisms

• From comparative sequence analysis (see table for details), MGI curators have determined that the gene product of Smarcb1:
  • participates in the following biological processes:
    • chromatin remodeling
    • nucleosome disassembly
    • positive regulation by host of viral transcription
    • positive regulation of sequence-specific DNA binding transcription factor activity
    • positive regulation of transcription from RNA polymerase II promoter
    • retroviral genome replication
  • performs the following molecular functions:
    • p53 binding
    • Tat protein binding
    • transcription coactivator activity
  • is located in the following cellular components:
    • nucleolus
    • nucleus
    • SWI/SNF complex

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Summary text based on GO annotations supported by structural data

• Smarcb1 encodes a protein or proteins that contain the following InterPro domains: SNF5/SMARCB1/INI1, SWI/SNF chromatin-remodeling complex, component hSNF5/Ini1, indicating that the gene product:
  • is located in the following cellular components:
    • chromatin remodeling complex
    • nuclear chromosome

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Summary text for additional MGI annotations

• Automated translation to GO terms of SwissProt keywords that describe Smarcb1 indicates that it:
  • participates in the following biological processes:
    • cell cycle
    • chromatin modification
    • nervous system development
    • regulation of transcription, DNA-dependent
    • transcription, DNA-dependent

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References

1. Bultman SJ et al. (2005) A Brg1 mutation that uncouples ATPase activity from chromatin remodeling reveals an essential role for SWI/SNF-related complexes in beta-globin expression and erythroid development. Genes Dev, 19:2849-61. (PubMed:16287714)
2. Costa Y et al. (2006) Mouse MAELSTROM: the link between meiotic silencing of unsynapsed chromatin and microRNA pathway? Hum Mol Genet, 15:2324-34. (PubMed:16787967)
3. Gresh L et al. (2005) The SWI/SNF chromatin-remodeling complex subunit SNF5 is essential for hepatocyte differentiation. EMBO J, 24:3313-24. (PubMed:16138077)
4. Guidi CJ et al. (2001) Disruption of ini1 leads to peri-implantation lethality and tumorigenesis in mice. Mol Cell Biol, 21:3598-603. (PubMed:11313485)
5. Klochendler-Yeivin A et al. (2000) The murine SNF5/INI1 chromatin remodeling factor is essential for embryonic development and tumor suppression. EMBO Rep, 1:500-6. (PubMed:11263494)
6. Lessard J et al. (2007) An essential switch in subunit composition of a chromatin remodeling complex during neural development. Neuron, 55:201-15. (PubMed:17640523)
7. Roberts CW et al. (2000) Haploinsufficiency of snf5 (integrase interactor 1) predisposes to malignant rhabdoid tumors in mice Proc Natl Acad Sci U S A, 97:13796-800. (PubMed:11095756)
8. Sohn DH et al. (2007) SRG3 interacts directly with the major components of the SWI/SNF chromatin remodeling complex and protects them from proteasomal degradation. J Biol Chem, 282:10614-24. (PubMed:17255092)

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Gene Ontology Evidence Code Abbreviations:

EXP Inferred from experiment

IC Inferred by curator

IDA Inferred from direct assay

IEA Inferred from electronic annotation

IGI Inferred from genetic interaction

IMP Inferred from mutant phenotype

IPI Inferred from physical interaction

ISS Inferred from sequence or structural similarity

ISO Inferred from sequence orthology

ISA Inferred from sequence alignment

ISM Inferred from sequence model

NAS Non-traceable author statement

ND No biological data available

RCA Reviewed computational analysis

TAS Traceable author statement

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