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

0Experiments

0Debates

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 Symbol	NBS1
Full Name	Nijmegen Breakage Syndrome 1 / Nibrin
Aliases	Nibrin
Chromosome	8q21.3.
Function	is a critical DNA repair protein that plays a central role in maintaining genomic stability.
Amino Acids	754 aa
UniProt ID	[O60347](https://www.uniprot.org/uniprot/O60347)
Ensembl ID	ENSG00000104320
GeneCards	NBS1
Human Protein Atlas	NBS1
RAD50	A protein that bridges DNA ends and maintains DNA end proximity
NBS1	The signaling and scaffolding component
Oxidative stress	ROS-induced base modifications and single-strand breaks
Endogenous metabolic byproducts	Spontaneous depurination, deamination reactions
Transcriptional stress	RNA polymerase stalling and transcription-coupled repair deficits
Associated Diseases	Alzheimer's disease, Parkinson's disease
Interactions	ATM, CANCER, COMPLEMENT, CTC1, DNA, IR
KG Connections	30 knowledge graph edges
Databases	GeneCards NCBI Gene HPA STRING

Wiki Pages (2)

Knowledge base pages for this entity

Canonical Page

NBS1 (NBN)

gene · 2573 words

→

NBS1 Protein

protein · 585 words

→

Pathway Diagram

graph TD
    NBS1["NBS1"]
    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)

Target	Relation	Type	Str
Senescence	interacts_with	disease	0.65
Ms	interacts_with	disease	0.65
Cancer	activates	disease	0.65
Ataxia	activates	disease	0.65
Als	activates	disease	0.65
ATM	activates	gene	0.60
PARP1	inhibits	gene	0.60
RAD51	inhibits	gene	0.60
LMNA	interacts_with	gene	0.60
WRN	interacts_with	gene	0.60
MDM2	interacts_with	gene	0.60
CTC1	interacts_with	gene	0.60
ATM	interacts_with	gene	0.60
Complement	interacts_with	pathway	0.60

Incoming (16)

Source	Relation	Type	Str
ATM	inhibits	gene	0.60
IR	inhibits	gene	0.60
COMPLEMENT	interacts_with	gene	0.60
P53	interacts_with	gene	0.60
ATM	activates	gene	0.60
DNA	activates	gene	0.60
CANCER	activates	gene	0.60
DNA	inhibits	gene	0.60
TREX1	interacts_with	gene	0.60
VCP	interacts_with	gene	0.60
NEIL1	interacts_with	gene	0.60
POLD1	interacts_with	gene	0.60
POT1	interacts_with	gene	0.60
MRE11	interacts_with	gene	0.60
MUTYH	interacts_with	gene	0.60
SAMHD1	interacts_with	gene	0.60

Targeting Hypotheses (0)

Hypotheses where this entity is a therapeutic target

Hypothesis	Score	Disease	Analysis
No targeting hypotheses

Mentioning Analyses (0)

Scientific analyses that reference this entity

No analyses mention this entity

Experiments (0)

Experimental studies targeting or related to this entity

Experiment	Type	Disease	Score	Feasibility	Model	Status	Est. Cost
No experiments found

Related Papers (0)

Scientific publications cited in analyses involving this entity

Title & PMID	Authors	Journal	Year	Citations
No papers found

Debates (0)

Multi-agent debates referencing this entity

No debates reference this entity

Related Research

Hypotheses and analyses mentioning NBS1 in their description or question text

No additional research found