Version: 8.0.0
Date: Tue Jan 28 2025
RB1
Homo sapiensHGNC:9884
SummaryOrthologyParalogyFunction - GO AnnotationsPathwaysPhenotypesDisease AssociationsAlleles and VariantsTransgenic AllelesModelsSequence Feature ViewerSequence DetailsExpressionMolecular InteractionsGenetic Interactions
Gene

RB1

Species
Homo sapiens
Symbol
RB1
Name
RB transcriptional corepressor 1
Synonyms
  • exon 17 tumor GOS561 substitution mutation causes premature stop
  • GOS563 exon 17 substitution mutation causes premature stop
Biotype
protein coding gene
Automated Description
Enables several functions, including disordered domain specific binding activity; enzyme binding activity; and importin-alpha family protein binding activity. Involved in several processes, including Ras protein signal transduction; chromosome organization; and negative regulation of macromolecule metabolic process. Acts upstream of or within negative regulation of gene expression. Located in PML body and cyclin/CDK positive transcription elongation factor complex. Part of Rb-E2F complex and chromatin lock complex. Implicated in several diseases, including high grade glioma (multiple); osteosarcoma; prostate cancer; retinoblastoma (multiple); and small cell carcinoma. Biomarker of germ cell cancer (multiple); glioblastoma proneural subtype; in situ carcinoma (multiple); obesity; and urinary system cancer (multiple).
RGD Description
The protein encoded by this gene is a negative regulator of the cell cycle and was the first tumor suppressor gene found. The encoded protein also stabilizes constitutive heterochromatin to maintain the overall chromatin structure. The active, hypophosphorylated form of the protein binds transcription factor E2F1. Defects in this gene are a cause of childhood cancer retinoblastoma (RB), bladder cancer, and osteogenic sarcoma. [provided by RefSeq, Jul 2008]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR13742
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
    Has Disease Annotations
    Has Phenotype Annotations
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      Transgenic Alleles

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

        Model name
        Experimental condition
        Associated Human Diseases
        Associated Phenotypes
        Modifier
        Source
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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

          RB1 molecule type
          Interactor gene
          Interactor species
          Interactor molecule type
          Detection methods
          Source
          Reference
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            Genetic Interactions

            RB1 role
            RB1 genetic perturbation
            Interactor gene
            Interactor species
            Interactor role
            Interactor genetic perturbation
            Interaction type
            Phenotype or trait
            Source
            Reference
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