Version: 8.0.0
Date: Tue Jan 28 2025
Crebbp
Mus musculusMGI:1098280
SummaryOrthologyParalogyFunction - GO AnnotationsPathwaysPhenotypesDisease AssociationsAlleles and VariantsTransgenic AllelesModelsSequence Feature ViewerSequence DetailsExpressionMolecular InteractionsGenetic Interactions
Gene

Crebbp

Species
Mus musculus
Symbol
Crebbp
Name
CREB binding protein
Synonyms
  • AW558298
  • CBP
Biotype
protein coding gene
Automated Description
Enables several functions, including DNA-binding transcription factor binding activity; TFIIB-class transcription factor binding activity; and disordered domain specific binding activity. Involved in several processes, including cellular response to virus; face morphogenesis; and regulation of gene expression. Acts upstream of or within cellular response to hepatocyte growth factor stimulus; germ-line stem cell population maintenance; and regulation of gene expression. Located in chromatin and nucleus. Part of RNA polymerase II transcription regulator complex; histone acetyltransferase complex; and outer kinetochore. Is expressed in several structures, including embryo ectoderm; eye; genitourinary system; heart; and skin. Used to study Rubinstein-Taybi syndrome; acute myeloid leukemia; autism spectrum disorder; and myelodysplastic syndrome. Human ortholog(s) of this gene implicated in Rubinstein-Taybi syndrome; acute lymphoblastic leukemia; and acute myeloid leukemia. Orthologous to human CREBBP (CREB binding protein).
MGI Description
PHENOTYPE: Homozygotes for null or altered alleles die around midgestation with defects in hemopoiesis, blood vessel formation, and neural tube closure. Heterozygotes may exhibit skeletal, cardiac, and hematopoietic defects, retarded growth, and hematologic tumors. [provided by MGI curators]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR13808
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
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
          GRCm39
          Viewer Help
          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

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

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