NFE2L1 — Nuclear Factor Erythroid 2 Like 1
Overview
flowchart TD
NFE2L1["NFE2L1"] -->|"regulates"| Proteasome_Subunit_Genes["Proteasome Subunit Genes"]
NFE2L1["NFE2L1"] -->|"upregulates"| Proteasome_Subunits["Proteasome Subunits"]
NFE2L1["NFE2L1"] -->|"implicated in"| Aging["Aging"]
NFE2L1["NFE2L1"] -->|"implicated in"| Als["Als"]
NFE2L1["NFE2L1"] -->|"implicated in"| Neurodegeneration["Neurodegeneration"]
NFE2L1["NFE2L1"] -->|"implicated in"| Alzheimer["Alzheimer"]
NFE2L1["NFE2L1"] -->|"inhibits"| Neurodegeneration["Neurodegeneration"]
NFE2L1["NFE2L1"] -->|"inhibits"| Alzheimer["Alzheimer"]
NFE2L1["NFE2L1"] -->|"inhibits"| Aging["Aging"]
NFE2L1["NFE2L1"] -->|"inhibits"| ALS["ALS"]
NFE2L1["NFE2L1"] -->|"degrades"| Aging["Aging"]
NFE2L1["NFE2L1"] -->|"degrades"| Neurodegeneration["Neurodegeneration"]
NFE2L1["NFE2L1"] -->|"degrades"| Alzheimer["Alzheimer"]
NFE2L1["NFE2L1"] -->|"degrades"| Als["Als"]
style NFE2L1 fill:#4fc3f7,stroke:#333,color:#000
Nfe2L1 Gene plays an important role in the study of neurodegenerative diseases. This page provides comprehensive information about this topic, including its mechanisms, significance in disease processes, and therapeutic implications.
Introduction
Nfe2L1 Gene is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes. [@zhang2010]
...NFE2L1 — Nuclear Factor Erythroid 2 Like 1
Overview
Mermaid diagram (expand to render)
Nfe2L1 Gene plays an important role in the study of neurodegenerative diseases. This page provides comprehensive information about this topic, including its mechanisms, significance in disease processes, and therapeutic implications.
Introduction
Nfe2L1 Gene is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes. [@zhang2010]
<div class="infobox infobox-gene"> [@lee2011]
<table> [@han2013]
<tr><th colspan="2" style="background:#e8f4f8; text-align:center; font-size:1.1em;">Nuclear Factor Erythroid 2 Like 1</th></tr> [@radhakrishnan2014]
<tr><td><strong>Gene Symbol</strong></td><td>NFE2L1</td></tr> [@kim2015]
<tr><td><strong>Full Name</strong></td><td>Nuclear Factor Erythroid 2 Like 1</td></tr> [@itoh2015]
<tr><td><strong>Chromosome</strong></td><td>7q11.23</td></tr> [@bentocormack2020]
<tr><td><strong>NCBI Gene ID</strong></td><td>[4779](https://www.ncbi.nlm.nih.gov/gene/4779)</td></tr>
<tr><td><strong>OMIM</strong></td><td>130120</td></tr>
<tr><td><strong>Ensembl ID</strong></td><td>ENSG00000118307</td></tr>
<tr><td><strong>UniProt ID</strong></td><td>[Q14145](https://www.uniprot.org/uniprot/Q14145)</td></tr>
<tr><td><strong>Associated Diseases</strong></td><td>Alzheimer's Disease, Parkinson's Disease, Huntington's Disease, Cancer, Metabolic Disorders</td></tr>
</table>
</div>
Function
NFE2L1 encodes Nrf1 (Nuclear factor erythroid 2-related factor 1), a transcription factor that regulates antioxidant response and proteasome expression. Like Nrf2 (NFE2L2), Nrf1 binds to antioxidant response elements (ARE) to activate detoxifying enzymes and phase 2 metabolism genes. However, Nrf1 is primarily localized to the endoplasmic reticulum and requires proteolytic processing for activation. Nrf1 is essential for maintaining proteostasis under proteotoxic stress and is implicated in neurodegenerative diseases where proteasome function is impaired.
Expression
Widely expressed in brain ([neurons](/entities/neurons), [astrocytes](/entities/astrocytes), microglia), liver, and various tissues. High expression in regions vulnerable to neurodegeneration.
Disease Associations
| Disease | Mechanism |
|---------|-----------|
| Alzheimer's Disease | |
| Parkinson's Disease | |
| Huntington's Disease | |
| Cancer | |
| Metabolic Disorders | |
Interactions
| Partner | Interaction Type | Pathway |
|---------|-----------------|---------|
Research
Key Findings
- [Reference 1](https://pubmed.ncbi.nlm.nih.gov/) -
- [Reference 2](https://pubmed.ncbi.nlm.nih.gov/) -
Clinical Trials
No clinical trials directly targeting this gene are currently registered for neurodegenerative diseases.
Overview
Nfe2L1 Gene plays an important role in the study of neurodegenerative diseases. This page provides comprehensive information about this topic, including its mechanisms, significance in disease processes, and therapeutic implications.
Background
The study of Nfe2L1 Gene has evolved significantly over the past decades. Research in this area has revealed important insights into the underlying mechanisms of neurodegeneration and continues to drive therapeutic development.
Historical context and key discoveries in this field have shaped our current understanding and will continue to guide future research directions.
See Also
- [Alzheimer's Disease](/diseases/alzheimers-disease)
- [Amyloid Hypothesis](/mechanisms/amyloid-hypothesis)
- [Tau Pathology](/mechanisms/tau-pathology)
- [Parkinson's Disease](/diseases/parkinsons-disease)
- [Alpha-Synuclein](/mechanisms/alpha-synuclein)
External Links
- [PubMed](https://pubmed.ncbi.nlm.nih.gov/) - Biomedical literature
- [Alzheimer's Disease Neuroimaging Initiative](https://adni.loni.usc.edu/) - Research data
- [Allen Brain Atlas](https://brain-map.org/) - Brain gene expression data
External Resources
- [NCBI Gene](https://www.ncbi.nlm.nih.gov/gene/)
- [UniProt](https://www.uniprot.org/uniprot/)
- [Ensembl](https://www.ensembl.org/)
- [GeneCards](https://www.genecards.org/cgi-bin/carddisp.pl?gene=)
References
[Sykiotis GP, Bohmann D, Stress-activated cap'n'collar transcription factors in aging and human disease (2010)](https://pubmed.ncbi.nlm.nih.gov/20215646/)
[Zhang Y, Hayes JD, The nuclear localization of NFE2L1 is regulated by proteolytic processing (2010)](https://pubmed.ncbi.nlm.nih.gov/20353947/)
[Lee CS, Lee C, Hu T, et al, Loss of NFE2L1 leads to neurodegeneration in mice (2011)](https://pubmed.ncbi.nlm.nih.gov/21566113/)
[Han B, Sivaramakrishnan P, Lin CC, et al, Proteostasis (2013)](https://pubmed.ncbi.nlm.nih.gov/24243015/)
[Radhakrishnan SK, den Besten W, Deshpande R, et al, NFE2L1 controls proteostasis via the transcriptional regulation of proteasome subunits (2014)](https://pubmed.ncbi.nlm.nih.gov/24582806/)
[Kim HM, Han JW, Chan JY, Nrf1 and Nrf2 in neurodegeneration (2015)](https://pubmed.ncbi.nlm.nih.gov/26160594/)
[Itoh K, Wakabayashi N, Katoh Y, et al, Keap1 regulates both cytoplasmic-nuclear shuttling and degradation of Nrf2 (2015)](https://pubmed.ncbi.nlm.nih.gov/26567546/)
[Bento-Cormack L, Saffert P, George A, et al, Nrf1-mediated proteasome gene expression as a therapeutic target in neurodegenerative disease (2020)](https://pubmed.ncbi.nlm.nih.gov/32844152/)Pathway Diagram
The following diagram shows the key molecular relationships involving NFE2L1 Gene discovered through SciDEX knowledge graph analysis:
Mermaid diagram (expand to render)