gene 2,573 words KG: NBS1
Contents

NBS1 (NBN)

🧬 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
InteractionsATM, CANCER, COMPLEMENT, CTC1, DNA, IR
KG Connections30 knowledge graph edges
DatabasesGeneCardsNCBI GeneHPASTRING

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Knowledge Graph

Related Hypotheses (5)

Nutrient-Sensing Epigenetic Circuit Reactivation
Score: 0.94
Metabolic Switch Targeting for A1→A2 Repolarization
Score: 0.73
Metabolic Reprogramming via Microglial Glycolysis Inhibition
Score: 0.67
PARP1 Inhibition Therapy
Score: 0.74
VCP-Mediated Autophagy Enhancement
Score: 0.59

Related Analyses (5)

Astrocyte reactivity subtypes in neurodegeneration
neurodegeneration · archived
Synaptic pruning by microglia in early AD
neurodegeneration · archived
Epigenetic reprogramming in aging neurons
neurodegeneration · archived
Tau propagation mechanisms and therapeutic interception poin
neurodegeneration · archived
Circuit-level neural dynamics in neurodegeneration
neuroscience · archived

Related Experiments (5)

Anti-Tau Antibody vs ASO/Gene Therapy — Comparative Efficacy
validation · proposed · Score: 0.40
cGAS-STING Pathway Validation Study in Parkinson's Disease
clinical · proposed · Score: 0.40
CRISPR Gene Correction Approaches for CBS/PSP
clinical · proposed · Score: 0.40
AAV-LRRK2 Gene Therapy IND-Enabling Study Design
clinical · proposed · Score: 0.40
Experiment: Multi-Ethnic PD GWAS
clinical · proposed · Score: 0.40

See Also (15)

Neurodegeneration
disease · KG edge: implicated_in
DNA Damage Repair Deficiency Validation Study in Parkin
experiment · KG edge: activates
Complement System Dysregulation in Neurodegeneration -
gap · KG edge: interacts_with
ATM Gene
gene · KG edge: activates
CTC1 Gene
gene · KG edge: interacts_with

Knowledge Graph (12 edges)

TREX1 interacts_with NBS1
VCP interacts_with NBS1
NEIL1 interacts_with NBS1
POLD1 interacts_with NBS1
POT1 interacts_with NBS1
MRE11 interacts_with NBS1
MUTYH interacts_with NBS1
SAMHD1 interacts_with NBS1
NBS1 interacts_with LMNA
NBS1 interacts_with WRN

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