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Description for Protein ATM

ataxia telangiectasia mutated
73 total interacting proteins; 20 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 1/0)
(platelet: 2)
Summary:
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] (PubMed Links)
Domains and Motifs:
  • PI3KC: Phosphoinositide 3-kinase, catalytic domain
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    2.7.11.1
    KEGG - Orthology:
    K04728
    KEGG - Pathway(s):
    hsa04110; hsa04115; hsa04210
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    AT; AT1; Ataxia telangiectasia mutated protein; ATA; ATC; ATD; ATE; AT protein; Human phosphatidylinositol 3 kinase homolog; Serine protein kinase ATM; AT complementation group A; AT complementation group C; AT complementation group D; AT complementation group E; Ataxia telangiectasia mutated protein isoform 2; Ataxia telangiectasia mutated protein isoform 1
    Approved Symbol:
    ATM
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 41
    Human (de-) phosphorylation sites: 41; No platelet phosphorylation sites
    Phosphorylation Targets:
    Total phosphorylation targets: 85
    Human phosphorylation targets: 74; Predicted platelet targets: 11
    		Protein Characteristics:
    Isoform-specific Information
    Icon DrugsAssociated Drugs (DrugBank Accession):

    None Available

    Associated Genetic Diseases:

  • Ataxia telangiectasia(Pd);
  • Ataxia-telangiectasia(Pd);
  • Ataxia-telangiectasia variant(Pd);
  • Ataxia-telangiectasia without immunodeficiency(Pd);
  • Ataxia-telangiectasia, complementation group A(Pd);
  • Ataxia-telangiectasia, complementation group D(Pd);
  • Ataxia-telangiectasia, complementation group E(Pd);
  • Ataxia-telangiectasia, fresno variant(Pd);
  • B-cell non-Hodgkin lymphoma, somatic(Pd);
  • Breast cancer, familial(Pd);
  • Breast cancer, susceptibility to(Pd);
  • Mantle cell lymphoma(Pd);
  • Mantle cell lymphoma, somatic(Pd);
  • T-cell prolymphocytic leukemia, somatic(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 2 : 0
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 06347 Entrez Gene ID: 472 OMIM ID: 607585 Swissprot Accession: Q13315;