Version: 8.0.0
Date: Tue Jan 28 2025
Ercc1
Mus musculusMGI:95412
SummaryOrthologyParalogyFunction - GO AnnotationsPathwaysPhenotypesDisease AssociationsAlleles and VariantsTransgenic AllelesModelsSequence Feature ViewerSequence DetailsExpressionMolecular InteractionsGenetic Interactions
Gene

Ercc1

Species
Mus musculus
Symbol
Ercc1
Name
excision repair cross-complementing rodent repair deficiency, complementation group 1
Synonyms
  • Ercc-1
  • excision repair 1
Biotype
protein coding gene
Automated Description
Enables TFIID-class transcription factor complex binding activity and promoter-specific chromatin binding activity. Involved in positive regulation of t-circle formation and t-circle formation. Acts upstream of or within several processes, including DNA metabolic process; UV protection; and determination of adult lifespan. Is active in nucleus. Is expressed in several structures, including brain; genitourinary system; liver; skin; and spleen. Used to study XFE progeroid syndrome. Human ortholog(s) of this gene implicated in several diseases, including azoospermia; carcinoma (multiple); cerebrooculofacioskeletal syndrome 4; gastrointestinal system cancer (multiple); and hematologic cancer (multiple). Orthologous to human ERCC1 (ERCC excision repair 1, endonuclease non-catalytic subunit).
MGI Description
PHENOTYPE: Nullizygous mutations result in growth and liver failure, nuclear anomalies and postnatal death, and may lead to spleen hypoplasia, altered isotype switching, B cell hypoproliferation, dystonia, ataxia, renal failure, sarcopenia, kyphosis, early replicative aging and sensitivity to oxidative stress. [provided by MGI curators]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR12749
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
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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

          Ercc1 molecule type
          Interactor gene
          Interactor species
          Interactor molecule type
          Detection methods
          Source
          Reference
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            Genetic Interactions

            Ercc1 role
            Ercc1 genetic perturbation
            Interactor gene
            Interactor species
            Interactor role
            Interactor genetic perturbation
            Interaction type
            Phenotype or trait
            Source
            Reference
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