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]
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
histone binding
BRCT
Inner membrane component of T3SS, cytoplasmic domain
Regulator of Ty1 transposition protein 107 BRCT domain
protein binding activity, bridging
Mre11-binding domain
transcription factor binding
Forkhead associated domain
protein binding
DNA damage repair protein Nbs1
phosphorylation site
forkhead associated (FHA) domain superfamily
protein kinase activator
damaged DNA binding
FHA domain
atm binding domain
Second BRCT domain on Nijmegen syndrome breakage protein
MRE11 interacting domain
Pathways
Biological processes and signaling networks where the NBN gene plays a role, providing insight into its function and relevance in health or disease.
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
Nucleus
nuclear fraction
Golgi Apparatus
cytosol
nuclear foci
chromosome
nucleoplasm
nucleoli
nuclear bodies
DNA replication foci
PML nuclear bodies
telomeres
replication fork
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the NBN gene, providing context for its role in the cell.
biological PROCESS
Functions and activities the gene product is involved in
mitotic cell cycle G2/M transition DNA damage checkpoint
regulation of DNA-dependent DNA replication initiation
intrinsic apoptotic signaling pathway
telomere maintenance in response to DNA damage
double-strand break repair
positive regulation of protein autophosphorylation
meiotic cell cycle
neuroblast proliferation
DNA duplex unwinding
positive regulation of kinase activity
regulation of cell cycle
positive regulation of telomere maintenance
isotype switching
DNA double-strand break processing
double-strand break repair via homologous recombination
telomere maintenance
DNA damage checkpoint
blastocyst growth
protection from non-homologous end joining at telomere
telomeric 3' overhang formation
DNA damage response, signal transduction by p53 class mediator
protein K63-linked ubiquitination
reciprocal DNA recombination
neuromuscular process controlling balance
cellular COMPONENT
Where in the cell the gene product is active
nuclear inclusion body
site of double-strand break
PML body
Golgi apparatus
nucleolus
nucleoplasm
replication fork
nucleus
chromosome, telomeric region
BRCA1-C complex
cytosol
Mre11 complex
molecular FUNCTION
What the gene product does at the molecular level
protein serine/threonine kinase activator activity
protein binding
histone binding
damaged DNA binding
Gene-Specific Assays for Results You Can Trust
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