Gene

Ddb1

Species
Mus musculus
Symbol
Ddb1
Name
damage specific DNA binding protein 1
Synonyms
  • AA408517
  • damage-specific DNA-binding protein, DNA repair
Biotype
protein coding gene
Automated Description
Predicted to enable several functions, including WD40-repeat domain binding activity; cullin family protein binding activity; and ubiquitin ligase complex scaffold activity. Involved in several processes, including cellular response to UV; positive regulation of gluconeogenesis; and ubiquitin-dependent protein catabolic process. Acts upstream of or within several processes, including Wnt signaling pathway; negative regulation of apoptotic process; and negative regulation of reproductive process. Part of Cul4A-RING E3 ubiquitin ligase complex. Is expressed in several structures, including blastocyst; early embryo; germ cell of gonad; otocyst; and spleen. Human ortholog(s) of this gene implicated in communication disorder. Orthologous to human DDB1 (damage specific DNA binding protein 1).
MGI Description
PHENOTYPE: Complete deletion of this gene results in embryonic lethality; conditional mutation causes increased apoptosis in the developing brain, and defects in lens formation. Conditional KO in testis affects Sertoli cell development and leads to reduced sperm count. [provided by MGI curators]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR10644
No data available
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

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    Disease Associations

    Cases where the expected disease association was NOT found
    Cell color indicative of annotation volume
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      Alleles and Variants

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        Transgenic Alleles

        Species
        (carrying the transgene)
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        Transgenic construct
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          Models

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            Sequence Feature Viewer

            Genome location
            Assembly version
            GRCm39
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            10.584M10.586M10.588M10.590M10.592M10.594M10.596M10.598M10.600M10.602M10.604M10.606M

            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

            Ddb1 molecule type
            Interactor gene
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              Genetic Interactions

              Ddb1 role
              Ddb1 genetic perturbation
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