Entity Detail — Knowledge Graph Node
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.
NBS1 (Nibrin) is a key DNA repair gene in the MRN complex, crucial for genomic stability and neuronal survival. Mutations cause Nijmegen Breakage Syndrome.
| 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 | LMNA, WRN, MDM2, CTC1, ATM, PARP1 |
| KG Connections | 30 knowledge graph edges |
| Databases | GeneCardsNCBI GeneHPASTRING |
Knowledge base pages for this entity
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| 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 |
| 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 |
| ATM | activates | gene | 0.60 |
| PARP1 | inhibits | gene | 0.60 |
| RAD51 | inhibits | gene | 0.60 |
| Complement | interacts_with | pathway | 0.60 |
| Source | Relation | Type | Str |
|---|---|---|---|
| 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 |
| ATM | activates | gene | 0.60 |
| ATM | inhibits | gene | 0.60 |
| IR | inhibits | gene | 0.60 |
| COMPLEMENT | interacts_with | gene | 0.60 |
| P53 | interacts_with | gene | 0.60 |
| DNA | activates | gene | 0.60 |
| CANCER | activates | gene | 0.60 |
| DNA | inhibits | gene | 0.60 |
Hypotheses where this entity is a therapeutic target
| Hypothesis | Score | Disease | Analysis |
|---|---|---|---|
| No targeting hypotheses | |||
Scientific analyses that reference this entity
No analyses mention this entity
Scientific publications cited in analyses involving this entity
| Title & PMID | Authors | Journal | Year | Citations |
|---|---|---|---|---|
| No papers found | ||||