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Description for Protein NBN

nibrin
28 total interacting proteins; 7 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
Mutations in this gene are associated with Nijmegen breakage syndrome, an autosomal recessive chromosomal instability syndrome characterized by microcephaly, growth retardation, immunodeficiency, and cancer predisposition. The encoded protein is a member of the MRE11/RAD50 double-strand break repair complex which consists of 5 proteins. This gene product is thought to be involved in DNA double-strand break repair and DNA damage-induced checkpoint activation. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • BRCT: breast cancer carboxy-terminal domain
  • FHA: Forkhead associated domain
  • CC: Coiled Coil
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    K10867
    KEGG - Pathway(s):
    hsa03440
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    NBS1; Nijmegen breakage syndrome 1; p95 protein of the MRE11/RAD50 complex; ATV; AT-V1; AT-V2; MGC87362; Nibrin isoform 2; Nibrin isoform 1
    Approved Symbol:
    NBN
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 56
    Human (de-) phosphorylation sites: 56; 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:

  • Leukemia, acute lymphoblastic(Pd);
  • Nijmegen breakage syndrome(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 2 : 0
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 04050 Entrez Gene ID: 4683 OMIM ID: 602667 Swissprot Accession: O60934;