Version: 8.0.0
Date: Tue Jan 28 2025
ATM
Homo sapiensHGNC:795
SummaryOrthologyParalogyFunction - GO AnnotationsPathwaysPhenotypesDisease AssociationsAlleles and VariantsTransgenic AllelesModelsSequence Feature ViewerSequence DetailsExpressionMolecular InteractionsGenetic Interactions
Gene

ATM

Species
Homo sapiens
Symbol
ATM
Name
ATM serine/threonine kinase
Synonyms
  • A-T mutated
  • AT mutated
Biotype
protein coding gene
Automated Description
Enables 1-phosphatidylinositol-3-kinase activity; DNA-dependent protein kinase activity; and identical protein binding activity. Involved in several processes, including cellular response to ionizing radiation; protein phosphorylation; and regulation of chromosome organization. Acts upstream of or within peptidyl-serine autophosphorylation. Located in chromosome, telomeric region; nucleolus; and nucleoplasm. Part of DNA repair complex. Is active in peroxisomal matrix and site of double-strand break. Implicated in several diseases, including breast cancer (multiple); endocrine gland cancer (multiple); lung carcinoma (multiple); neurodegenerative disease (multiple); and senile cataract. Biomarker of several diseases, including gastrointestinal system cancer (multiple); human immunodeficiency virus infectious disease; lung non-small cell carcinoma; oral mucosa leukoplakia; and prostate carcinoma in situ.
RGD Description
The protein encoded by this gene belongs to the PI3/PI4-kinase family. This protein is an important cell cycle checkpoint kinase that phosphorylates; thus, it functions as a regulator of a wide variety of downstream proteins, including tumor suppressor proteins p53 and BRCA1, checkpoint kinase CHK2, checkpoint proteins RAD17 and RAD9, and DNA repair protein NBS1. This protein and the closely related kinase ATR are thought to be master controllers of cell cycle checkpoint signaling pathways that are required for cell response to DNA damage and for genome stability. Mutations in this gene are associated with ataxia telangiectasia, an autosomal recessive disorder. [provided by RefSeq, Aug 2010]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR37079
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

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

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