Version: 8.0.0
Date: Tue Jan 28 2025
Rb1cc1
Mus musculusMGI:1341850
SummaryOrthologyParalogyFunction - GO AnnotationsPathwaysPhenotypesDisease AssociationsAlleles and VariantsTransgenic AllelesModelsSequence Feature ViewerSequence DetailsExpressionMolecular InteractionsGenetic Interactions
Gene

Rb1cc1

Species
Mus musculus
Symbol
Rb1cc1
Name
RB1-inducible coiled-coil 1
Synonyms
  • 2900055E04Rik
  • 5930404L04Rik
Biotype
protein coding gene
Automated Description
Enables protein kinase binding activity. Involved in several processes, including autophagosome assembly; positive regulation of autophagy; and regulation of protein lipidation. Acts upstream of or within several processes, including defense response to symbiont; positive regulation of cell size; and regulation of signal transduction. Located in autophagosome membrane; nucleus; and phagophore assembly site membrane. Part of Atg1/ULK1 kinase complex. Is expressed in several structures, including cerebral cortex; ganglia; musculoskeletal system; oocyte; and trunk paraxial mesenchyme. Human ortholog(s) of this gene implicated in breast cancer. Orthologous to human RB1CC1 (RB1 inducible coiled-coil 1).
MGI Description
PHENOTYPE: Homozygous mutation of this gene results in embryonic lethality at mid/late gestation associated with heart failure and liver degeneration. Conditional KO in the retinal pigment epithelium results in defective autophagy in and degeneration of the RPE, as well as degeneration of the retinal outer nuclear layer. [provided by MGI curators]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR13222
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
Other Sources
Phenotype Term
Annotation details
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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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      Has Phenotype Annotations
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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
          GRCm39
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          Data currently unavailable; sequence viewer under construction

          Sequence Details

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          Expression

          Primary Sources
          Other Sources
          Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

          Molecular Interactions

          Rb1cc1 molecule type
          Interactor gene
          Interactor species
          Interactor molecule type
          Detection methods
          Source
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            Genetic Interactions

            Rb1cc1 role
            Rb1cc1 genetic perturbation
            Interactor gene
            Interactor species
            Interactor role
            Interactor genetic perturbation
            Interaction type
            Phenotype or trait
            Source
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