Family

Nibrin (IPR016592)

Short name: Nibrin_met

Family relationships

None.

Description

Nibrin (also known as Nbs1 or p95) plays an important role in the DNA damage response (DDR) and DNA repair. It is part of the nuclear MRN complex, which consists of Mre11, Rad50, and nibrin, and is involved in double-strand break (DSB) repair, DNA recombination, maintenance of telomere integrity, cell cycle checkpoint control and meiosis [PMID: 9705271, PMID: 10888888, PMID: 19759395, PMID: 11448772, PMID: 15668383, PMID: 12422221]. Mutations in the NBN gene coding for nibrin cause the Nijmegen Breakage Syndrome (NBS), a rare autosomal recessive disorder characterised by genomic instability and increased risk of haematopoietic malignancies [PMID: 22373003, PMID: 25119968].

GO terms

Biological Process

GO:0006281 DNA repair
GO:0006974 cellular response to DNA damage stimulus
GO:0007093 mitotic cell cycle checkpoint
GO:0000723 telomere maintenance

Molecular Function

No terms assigned in this category.

Cellular Component

GO:0030870 Mre11 complex
GO:0005634 nucleus

Contributing signatures

Signatures from InterPro member databases are used to construct an entry.
PIRSF