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
And 17 more GO terms
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
Show all 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
Protein-Protein network diagram for NBN

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

Selected references

External links

EPD
ORF Accession
NM_002485
CDS Accession
NP_002476
OMIM
602667
HPRD
04050
Ensembl
NBN
UniProt/Swiss-Prot
NBN_HUMAN
GeneCards
NBN
Entrez Gene
4683
UniGene
492208
GenAtlas
NBN
Internet
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