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27 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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NRF1
nuclear respiratory factor 1
Chromosome 7 · 7q32.2
NCBI Gene: 4899Ensembl: ENSG00000106459.16HGNC: HGNC:7996UniProt: Q16656
162PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedTranscription Factor
RESEARCH IMPACT
Trending
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
RNA polymerase II cis-regulatory region sequence-specific DNA bindingpositive regulation of transcription by RNA polymerase IIextracellular exosomenucleoplasmneurodegenerative diseasetype 2 diabetes mellitusneuroinflammatory disorderplacenta praevia
✦AI Summary

NRF1 (Nuclear Respiratory Factor 1) is a multifunctional transcription factor that plays critical roles in cellular metabolism, stress response, and disease pathogenesis. Primarily, NRF1 activates transcription of genes involved in mitochondrial biogenesis, proteasome function, and cellular respiration 12. The protein exhibits position-dependent transcriptional activity, functioning as either an activator or repressor depending on its precise location relative to transcription start sites 3. NRF1's mechanism involves cooperative interactions with other transcription factors like E2F4 and MYC to regulate common target genes across multiple cellular pathways 4. Post-translational regulation occurs through ubiquitination pathways that impair its activation, involving SCFFBS2-ARIH1-mediated atypical ubiquitin chain formation 5. In disease contexts, NRF1 demonstrates dual roles: it promotes heart regeneration through proteostasis and redox balance regulation 6 and enhances CAR-NK cell therapeutic efficacy via c-Myc/NRF1 activation 7. However, NRF1 also contributes to cellular senescence by driving innate immune responses through the ATM-NRF1-TBK1/IRF3 axis 8. In Alzheimer's disease, impaired NRF1 nuclear localization prevents compensatory proteasome upregulation, contributing to proteostasis failure 2. These findings establish NRF1 as a key regulator linking metabolic control, stress responses, and disease progression.

Sources cited
1
NRF1 regulation through atypical ubiquitination pathways involving SCFFBS2-ARIH1-mediated ubiquitin chain formation
PMID: 39116872
2
NRF1's role in heart regeneration through proteostasis and redox balance regulation
PMID: 34489413
3
NRF1's contribution to cellular senescence via the ATM-NRF1-TBK1/IRF3-type I interferon axis
PMID: 41381492
4
Impaired NRF1 nuclear localization in Alzheimer's disease preventing proteasome gene upregulation
PMID: 40488453
5
NRF1's role as a key regulator of TFAM in mitochondrial biogenesis and its repression by ATF4
PMID: 33177163
6
NRF1 enhancement of CAR-NK cell therapeutic efficacy through c-Myc/NRF1 activation
PMID: 40025022
7
NRF1's cooperative interactions with E2F4 and MYC transcription factors in cancer development
PMID: 30047092
8
Position-dependent transcriptional activity of NRF1 relative to transcription start sites
PMID: 39020164
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.50Moderate
type 2 diabetes mellitusOpen Targets
0.41Moderate
neuroinflammatory disorderOpen Targets
0.37Weak
placenta praeviaOpen Targets
0.33Weak
Alzheimer diseaseOpen Targets
0.31Weak
skin woundOpen Targets
0.27Weak
hepatocellular carcinomaOpen Targets
0.11Weak
neoplasmOpen Targets
0.11Weak
breast cancerOpen Targets
0.10Weak
Genu valgumOpen Targets
0.10Weak
Genu varumOpen Targets
0.10Weak
Miyoshi myopathyOpen Targets
0.09Suggestive
melanomaOpen Targets
0.09Suggestive
connective tissue neoplasmOpen Targets
0.09Suggestive
SepsisOpen Targets
0.08Suggestive
chronic obstructive pulmonary diseaseOpen Targets
0.08Suggestive
serum lipopolysaccharide activityOpen Targets
0.07Suggestive
cirrhosis of liverOpen Targets
0.06Suggestive
Parkinson diseaseOpen Targets
0.06Suggestive
atrial fibrillationOpen Targets
0.06Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
FOXO3Protein interaction100%PPARGC1AProtein interaction100%EIF2S2Protein interaction100%ALAS1Protein interaction99%PPRC1Protein interaction94%TFB1MProtein interaction92%
Tissue Expression6 tissues
Bone Marrow
100%
Ovary
95%
Lung
71%
Heart
65%
Brain
61%
Liver
46%
Gene Interaction Network
Click a node to explore
NRF1FOXO3PPARGC1AEIF2S2ALAS1PPRC1TFB1M
PROTEIN STRUCTURE
Preparing viewer…
PDB8K4L · 2.10 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.19Highly Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.08 [0.04–0.19]
RankingsWhere NRF1 stands among ~20K protein-coding genes
  • #2,774of 20,598
    Most Researched162 · top quartile
  • #383of 17,882
    Most Constrained (LOEUF)0.19 · top 5%
Genes detectedNRF1
Sources retrieved27 papers
Response time—
📄 Sources
27▼
1
Sugar-mediated non-canonical ubiquitination impairs Nrf1/NFE2L1 activation.
PMID: 39116872
Mol Cell · 2024
1.00
2
Nrf1 promotes heart regeneration and repair by regulating proteostasis and redox balance.
PMID: 34489413
Nat Commun · 2021
0.90
3
NRF1-mediated innate immune response drives inflammaging.
PMID: 41381492
Nat Commun · 2025
0.80
4
Transcription factor Nrf1 regulates proteotoxic stress-induced autophagy.
PMID: 38656405
J Cell Biol · 2024
0.76
5
Overexpression of
PMID: 32188015
Int J Mol Sci · 2020
0.72