GenAge entry for NBN (Homo sapiens)

Gene name (HAGRID: 44)

HGNC symbol: NBN
Aliases: ATV; AT-V2; AT-V1; NBS; NBS1
Common name: nibrin

Potential relevance to the human ageing process

Main reason for selection: Entry selected based on evidence linking the gene product to a pathway or mechanism linked to ageing
Description: Mutations in NBN cause Nijmegen breakage syndrome, a chromosomal instability syndrome that has been suggested as progeroid [55]. NBN is involved in DNA repair, probably of double-strand breaks, in conjunction with other proteins associated with ageing [894]. While not proven, NBN could potentially play some role in human ageing.

Cytogenetic information

Cytogenetic band: 8q21
Location: 89,933,336 bp to 89,984,671 bp
Orientation: Minus strand

Display region using the UCSC Genome Browser (GRCh38/hg38)

Protein information

Gene Ontology

Process:

GO:0000077; DNA damage checkpoint
GO:0000723; telomere maintenance
GO:0000724; double-strand break repair via homologous recombination
GO:0000729; DNA double-strand break processing
GO:0000731; DNA synthesis involved in DNA repair
GO:0000732; strand displacement
GO:0001832; blastocyst growth
GO:0006260; DNA replication
GO:0006302; double-strand break repair
GO:0006303; double-strand break repair via nonhomologous end joining
GO:0007050; cell cycle arrest
GO:0007093; mitotic cell cycle checkpoint
GO:0007095; mitotic G2 DNA damage checkpoint
GO:0008283; cell proliferation
GO:0030174; regulation of DNA-dependent DNA replication initiation
GO:0030330; DNA damage response, signal transduction by p53 class mediator
GO:0031860; telomeric 3' overhang formation
GO:0031954; positive regulation of protein autophosphorylation
GO:0032206; positive regulation of telomere maintenance
GO:0032508; DNA duplex unwinding
GO:0033674; positive regulation of kinase activity
GO:0045190; isotype switching
GO:0050885; neuromuscular process controlling balance
GO:0051321; meiotic cell cycle
GO:0097193; intrinsic apoptotic signaling pathway
GO:1901796; regulation of signal transduction by p53 class mediator
GO:1904354; negative regulation of telomere capping

Cellular component:

GO:0000784; nuclear chromosome, telomeric region
GO:0005634; nucleus
GO:0005654; nucleoplasm
GO:0005657; replication fork
GO:0005730; nucleolus
GO:0005829; cytosol
GO:0016605; PML body
GO:0030870; Mre11 complex
GO:0035861; site of double-strand break
GO:0042405; nuclear inclusion body

Function:

GO:0003684; damaged DNA binding
GO:0004003; ATP-dependent DNA helicase activity
GO:0005515; protein binding
GO:0008134; transcription factor binding
GO:0047485; protein N-terminus binding

Hide GO terms

Protein interactions and network

Protein-protein interacting partners in GenAge: ATM, WRN, BRCA1, RPA1, BLM, EP300, TERF1, PRKDC, XRCC5, TERF2, SIRT1, BMI1, ATF2, MDM2, H2AFX, MTOR, ATR, MLH1, RICTOR
STRING interaction network

Retrieve sequences for NBN

ORF: ORF
CDS: CDS

Homologs in model organisms

Danio rerio: nbn
Mus musculus: Nbn
Rattus norvegicus: Nbn

In other databases

LongevityMap

This gene is present as NBN

CellAge

This gene is present as NBN