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 NCBI: 4683 Ensembl: ENSG00000104320
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

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
regulated by
  • doxorubicin
  • lipopolysaccharide
  • wortmannin
  • CEBPB
  • IgM
  • ATM
  • bortezomib
  • MDM2
  • ceralasertib
  • RAD50
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

Gene-Specific Assays for Results You Can Trust

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