Go Annotations as Summary Text (Tabular View) (GO Graph)

GO curators for mouse genes have assigned the following annotations to the gene product of Nbn. (This text reflects annotations as of Wednesday, January 23, 2013.)

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Summary from NCBI RefSeq

[Summary is not available for the mouse gene. This summary is for the human ortholog.] 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, Jul 2008]

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Summary text based on GO annotations supported by experimental evidence in mouse

• Researchers have inferred from direct assay, that the gene product of Nbn
  • participates in the following biological processes:
    • isotype switching ^[4]
  • performs the following molecular functions:
    • damaged DNA binding ^[1]
  • is located in the following cellular components:
    • nucleus ^[6]
    • replication fork ^[1]
• Researchers have inferred, based on phenotypic analysis of mouse mutants, that the gene product of Nbn
  • participates in the following biological processes:
    • apoptotic process ^[5]
    • blastocyst growth ^[2]
    • cell proliferation ^[3]
    • G2/M transition checkpoint ^[5]
    • in utero embryonic development ^[2]
    • neuromuscular process controlling balance ^[3]

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Summary text based on GO annotations supported by experimental evidence in other organisms

• From comparative sequence analysis (see table for details), MGI curators have determined that the gene product of Nbn:
  • participates in the following biological processes:
    • DNA damage checkpoint
    • DNA duplex unwinding
    • double-strand break repair
    • mitotic cell cycle G1/S transition checkpoint
    • mitotic cell cycle G2/M transition DNA damage checkpoint
    • negative regulation of neuron differentiation
    • positive regulation of cell proliferation
    • positive regulation of kinase activity
    • positive regulation of protein autophosphorylation
    • regulation of fibroblast proliferation
    • telomere maintenance
  • performs the following molecular functions:
    • protein N-terminus binding
    • transcription factor binding
  • is located in the following cellular components:
    • Mre11 complex
    • nuclear chromosome, telomeric region
    • nuclear inclusion body
    • nucleolus
    • nucleus

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Summary text for additional MGI annotations

• Automated translation to GO terms of SwissProt keywords that describe Nbn indicates that it:
  • participates in the following biological processes:
    • cell cycle
    • DNA repair
    • meiosis
    • response to DNA damage stimulus
  • is located in the following cellular components:
    • chromosome
    • chromosome, telomeric region

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References

1. Celeste A et al. (2002) Genomic instability in mice lacking histone H2AX. Science, 296:922-7. (PubMed:11934988)
2. Dumon-Jones V et al. (2003) Nbn heterozygosity renders mice susceptible to tumor formation and ionizing radiation-induced tumorigenesis. Cancer Res, 63:7263-9. (PubMed:14612522)
3. Frappart PO et al. (2005) An essential function for NBS1 in the prevention of ataxia and cerebellar defects. Nat Med, 11:538-44. (PubMed:15821748)
4. Kracker S et al. (2005) Nibrin functions in Ig class-switch recombination. Proc Natl Acad Sci U S A, 102:1584-9. (PubMed:15668383)
5. Stracker TH et al. (2008) Chk2 suppresses the oncogenic potential of DNA replication-associated DNA damage. Mol Cell, 31:21-32. (PubMed:18614044)
6. Sutherland HG et al. (2001) Large-scale identification of mammalian proteins localized to nuclear sub-compartments. Hum Mol Genet, 10:1995-2011. (PubMed:11555636)

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Gene Ontology Evidence Code Abbreviations:

EXP Inferred from experiment

IC Inferred by curator

IDA Inferred from direct assay

IEA Inferred from electronic annotation

IGI Inferred from genetic interaction

IMP Inferred from mutant phenotype

IPI Inferred from physical interaction

ISS Inferred from sequence or structural similarity

ISO Inferred from sequence orthology

ISA Inferred from sequence alignment

ISM Inferred from sequence model

NAS Non-traceable author statement

ND No biological data available

RCA Reviewed computational analysis

TAS Traceable author statement

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