NBN Gene 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, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | NBN |
| Official Name | nibrin [Source:HGNC Symbol;Acc:HGNC:7652] |
| Ensembl ID | ENSG00000104320 |
| Bio databases IDs | |
| Aliases | nibrin |
| Synonyms | ATV,AT-V1,AT-V2,hNbs1,NBS,NBS1,NIBRIN,P95 |
| Species | Human, Homo sapiens |
Protein Domains
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.
- ATM Signaling
- DNA Double-Strand Break Repair by Homologous Recombination
- DNA Double-Strand Break Repair by Non-Homologous End Joining
- Hereditary Breast Cancer Signaling
- Molecular Mechanisms of Cancer
- Role of BRCA1 in DNA Damage Response
- Role of CHK Proteins in Cell Cycle Checkpoint Control
- Sirtuin Signaling Pathway
- Telomere Extension by Telomerase
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- COVID-19
- neoplasia
- epithelial cancer
- epithelial neoplasia
- cancer
- non-small cell lung cancer
- non-squamous non-small cell lung cancer
- lung carcinoma process
- lung cancer
- thoracic cancer
role in cell
- binding in
- proliferation
- expression in
- production in
- apoptosis
- cell cycle progression
- accumulation in
- phosphorylation in
- survival
- cell death
Subcellular Expression
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