Tbio NBN Nibrin

Protein Summary

Description

Component of the MRE11-RAD50-NBN (MRN complex) which plays a critical role in the cellular response to DNA damage and the maintenance of chromosome integrity. The complex is involved in double-strand break (DSB) repair, DNA recombination, maintenance of telomere integrity, cell cycle checkpoint control and meiosis. The complex possesses single-strand endonuclease activity and double-strand-specific 3'-5' exonuclease activity, which are provided by MRE11. RAD50 may be required to bind DNA ends and hold them in close proximity. NBN modulate the DNA damage signal sensing by recruiting PI3/PI4-kinase family members ATM, ATR, and probably DNA-PKcs to the DNA damage sites and activating their functions. It can also recruit MRE11 and RAD50 to the proximity of DSBs by an interaction with the histone H2AX. NBN also functions in telomere length maintenance by generating the 3' overhang which serves as a primer for telomerase dependent telomere elongation. NBN is a major player in the control of intra-S-phase checkpoint and there is some evidence that NBN is involved in G1 and G2 checkpoints. The roles of NBS1/MRN encompass DNA damage sensor, signal transducer, and effector, which enable cells to maintain DNA integrity and genomic stability. Forms a complex with RBBP8 to link DNA double-strand break sensing to resection. Enhances AKT1 phosphorylation possibly by association with the mTORC2 complex. 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]

Uniprot Accession IDs

• O60934
• B2R626
• B2RNC5
• O60672
• Q32NF7
• Q53FM6
• Q63HR6
• Q7LDM2

Gene Name

• NBN

Ensembl ID

• ENST00000265433
• ENSP00000265433
• ENSG00000104320

Symbol

• NBS
• NBS1
• P95
• ATV
• NBS
• P95
• NBS1
• AT-V1
• AT-V2

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
biological term	0.97
disease perturbation	0.96
transcription factor perturbation	0.91
biological process	0.9
transcription factor binding site profile	0.86

Protein Classes

PANTHER Classes

Protein / Nucleic Acid Binding / Dna Binding Protein / Damaged Dna-binding Protein / Nibrin

DTO Classes

Protein / Nucleic Acid Binding / Dna Binding Protein / Damaged Dna-binding Protein / Nibrin

IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 163.67   (req: < 5)

Gene RIFs: 306   (req: <= 3)

Antibodies: 1327   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 163.67   (req: >= 5)

Gene RIFs: 306   (req: > 3)

Antibodies: 1327   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 31

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0