gene

NBS1

Entity Detail — Knowledge Graph Node

Understanding Entity Pages

This page aggregates everything SciDEX knows about NBS1: its mechanistic relationships (Knowledge Graph edges), hypotheses targeting it, analyses mentioning it, and supporting scientific papers. The interactive graph below shows its immediate neighbors. All content is AI-synthesized from peer-reviewed literature.

30Connections
0Hypotheses
0Analyses
14Outgoing
16Incoming

Summary

NBS1 (Nibrin) is a key DNA repair gene in the MRN complex, crucial for genomic stability and neuronal survival. Mutations cause Nijmegen Breakage Syndrome.

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🧬 Gene Info
Gene SymbolNBS1
Full NameNijmegen Breakage Syndrome 1 / Nibrin
AliasesNibrin
Chromosome8q21.3.
Functionis a critical DNA repair protein that plays a central role in maintaining genomic stability.
Amino Acids754 aa
UniProt ID[O60347](https://www.uniprot.org/uniprot/O60347)
Ensembl IDENSG00000104320
GeneCardsNBS1
Human Protein AtlasNBS1
RAD50A protein that bridges DNA ends and maintains DNA end proximity
NBS1The signaling and scaffolding component
Oxidative stressROS-induced base modifications and single-strand breaks
Endogenous metabolic byproductsSpontaneous depurination, deamination reactions
Transcriptional stressRNA polymerase stalling and transcription-coupled repair deficits
Associated DiseasesAlzheimer's disease, Parkinson's disease
InteractionsLMNA, WRN, MDM2, CTC1, ATM, PARP1
KG Connections30 knowledge graph edges
DatabasesGeneCardsNCBI GeneHPASTRING

Wiki Pages (21)

Knowledge base pages for this entity

Canonical Page

NBS1 (NBN)

gene · 2573 words

DNA Damage Response Impairment Pathway

mechanism · 3871 words

DNA Damage Response in Alzheimer's Disease

mechanism · 3362 words

ataxia-telangiectasia

disease · 3097 words

POLD1

gene · 2427 words

DNA Damage Response in Alzheimer's Disease

mechanism · 2076 words

Pathway Diagram

graph TD
    NBS1["<b>NBS1</b>"]
    Senescence{"Senescence"}
    NBS1 -->|"interacts with"| Senescence
    Ms{"Ms"}
    NBS1 -->|"interacts with"| Ms
    LMNA["LMNA"]
    NBS1 -->|"interacts with"| LMNA
    WRN["WRN"]
    NBS1 -->|"interacts with"| WRN
    MDM2["MDM2"]
    NBS1 -->|"interacts with"| MDM2
    CTC1["CTC1"]
    NBS1 -->|"interacts with"| CTC1
    ATM["ATM"]
    NBS1 -->|"interacts with"| ATM
    Complement(["Complement"])
    NBS1 -->|"interacts with"| Complement
    neurodegeneration["neurodegeneration"]
    NBS1 -->|"implicated in"| neurodegeneration
    TREX1["TREX1"]
    TREX1 -->|"interacts with"| NBS1
    VCP["VCP"]
    VCP -->|"interacts with"| NBS1
    NEIL1["NEIL1"]
    NEIL1 -->|"interacts with"| NBS1
    COMPLEMENT["COMPLEMENT"]
    COMPLEMENT -->|"interacts with"| NBS1
    POLD1["POLD1"]
    POLD1 -->|"interacts with"| NBS1
    P53["P53"]
    P53 -->|"interacts with"| NBS1
    POT1["POT1"]
    POT1 -->|"interacts with"| NBS1
    MRE11["MRE11"]
    MRE11 -->|"interacts with"| NBS1
    MUTYH["MUTYH"]
    MUTYH -->|"interacts with"| NBS1
    SAMHD1["SAMHD1"]
    SAMHD1 -->|"interacts with"| NBS1
    style NBS1 fill:#1a3a4a,stroke:#4fc3f7,stroke-width:3px,color:#e0e0e0

Outgoing (14)

TargetRelationTypeStr
Senescenceinteracts_withdisease0.65
Msinteracts_withdisease0.65
Canceractivatesdisease0.65
Ataxiaactivatesdisease0.65
Alsactivatesdisease0.65

Incoming (16)

SourceRelationTypeStr
TREX1interacts_withgene0.60
VCPinteracts_withgene0.60
NEIL1interacts_withgene0.60
POLD1interacts_withgene0.60
POT1interacts_withgene0.60

Targeting Hypotheses (0)

Hypotheses where this entity is a therapeutic target

HypothesisScoreDiseaseAnalysis
No targeting hypotheses

Mentioning Analyses (0)

Scientific analyses that reference this entity

No analyses mention this entity

Related Papers (0)

Scientific publications cited in analyses involving this entity

Title & PMIDAuthorsJournalYearCitations
No papers found