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Description for Protein RAD50

RAD50 homolog (S. cerevisiae)
22 total interacting proteins; 6 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
The protein encoded by this gene is highly similar to Saccharomyces cerevisiae Rad50, a protein involved in DNA double-strand break repair. This protein forms a complex with MRE11 and NBS1. The protein complex binds to DNA and displays numerous enzymatic activities that are required for nonhomologous joining of DNA ends. This protein, cooperating with its partners, is important for DNA double-strand break repair, cell cycle checkpoint activation, telomere maintenance, and meiotic recombination. Knockout studies of the mouse homolog suggest this gene is essential for cell growth and viability. Mutations in this gene are the cause of Nijmegen breakage syndrome-like disorder. (PubMed Links)
Domains and Motifs:
  • CC: Coiled Coil
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    3.6.-.-
    KEGG - Orthology:
    K10866
    KEGG - Pathway(s):
    hsa03440; hsa03450
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    RAD50 homolog isoform 1; RAD50 homolog isoform 2; RAD50 homolog; RAD50 homolog transcript variant 1; hRad50; RAD50-2
    Approved Symbol:
    RAD50
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 18
    Human (de-) phosphorylation sites: 18; No platelet phosphorylation sites
    Phosphorylation Targets:
    Total phosphorylation targets: 0
    Human phosphorylation targets: 0;Predicted platelet targets: 0
    		Protein Characteristics:
    Isoform-specific Information
    Icon DrugsAssociated Drugs (DrugBank Accession):

    None Available

    Associated Genetic Diseases:

    None Available
    		Predicted Transmembrane Domains:
  • Isoform 2 : 0
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 04950 Entrez Gene ID: 10111 OMIM ID: 604040 Swissprot Accession: Q92878;