Version: 8.0.0
Date: Tue Jan 28 2025
SMARCB1
Homo sapiensHGNC:11103
SummaryOrthologyParalogyFunction - GO AnnotationsPathwaysPhenotypesDisease AssociationsAlleles and VariantsTransgenic AllelesModelsSequence Feature ViewerSequence DetailsExpressionMolecular InteractionsGenetic Interactions
Gene

SMARCB1

Species
Homo sapiens
Symbol
SMARCB1
Name
SWI/SNF related BAF chromatin remodeling complex subunit B1
Synonyms
  • BAF47
  • BRG1-associated factor 47
Biotype
protein coding gene
Automated Description
Enables several functions, including Tat protein binding activity; p53 binding activity; and transcription coactivator activity. Contributes to RNA polymerase I core promoter sequence-specific DNA binding activity. Involved in several processes, including chromatin remodeling; positive regulation by host of viral transcription; and regulation of DNA-templated transcription. Acts upstream of or within single stranded viral RNA replication via double stranded DNA intermediate. Located in fibrillar center and nucleoplasm. Part of SWI/SNF complex. Implicated in Coffin-Siris syndrome 3; meningioma; rhabdoid cancer; rhabdoid tumor predisposition syndrome 1; and schwannomatosis (multiple). Biomarker of carcinoma (multiple); connective tissue cancer (multiple); and rhabdoid cancer.
RGD Description
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. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2015]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR10019
Links to orthology data in JBrowse by filter level: Stringent,  Moderate,  No filter,  Best and Best Reverse

Paralogy

Function - GO Annotations

Pathways

No data available

Phenotypes

Primary Sources
None
Other Sources
Phenotype Term
Annotation details
References
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    Disease Associations

    Cases where the expected disease association was NOT found
    Cell color indicative of annotation volume
    No data available

    Alleles and Variants

    Allele/Variant Symbol
    Allele Synonyms
    Category
    Variant
    Variant type
    Molecular consequence
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      Transgenic Alleles

      Species
      (carrying the transgene)
      Allele symbol
      Transgenic construct
      Expressed components
      Knock-down targets
      Regulatory regions
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        Models

        Model name
        Experimental condition
        Associated Human Diseases
        Associated Phenotypes
        Modifier
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          Sequence Feature Viewer

          Genome location
          Assembly version
          GRCh38
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          Data currently unavailable; sequence viewer under construction

          Sequence Details

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          Expression

          Primary Sources
          None
          Other Sources
          Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

          Molecular Interactions

          SMARCB1 molecule type
          Interactor gene
          Interactor species
          Interactor molecule type
          Detection methods
          Source
          Reference
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            Genetic Interactions

            SMARCB1 role
            SMARCB1 genetic perturbation
            Interactor gene
            Interactor species
            Interactor role
            Interactor genetic perturbation
            Interaction type
            Phenotype or trait
            Source
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