ATG7 Gene

ATG7 Gene

<table class="infobox infobox-gene">
<tr>
<th class="infobox-header" colspan="2">ATG7 Gene</th>
</tr>
<tr>
<td class="label">Gene Symbol</td>
<td>ATG7</td>
</tr>
<tr>
<td class="label">Full Name</td>
<td>Autophagy Related 7</td>
</tr>
<tr>
<td class="label">Chromosomal Location</td>
<td>3p22.1</td>
</tr>
<tr>
<td class="label">NCBI Gene ID</td>
<td>9459</td>
</tr>
<tr>
<td class="label">OMIM</td>
<td>607760</td>
</tr>
<tr>
<td class="label">Ensembl ID</td>
<td>ENSG00000198271</td>
</tr>
<tr>
<td class="label">UniProt</td>
<td>O95352</td>
</tr>
<tr>
<td class="label">Gene Type</td>
<td>Protein-coding</td>
</tr>
<tr>
<td class="label">Disease</td>
<td>Inheritance</td>
</tr>
<tr>
<td class="label">Charcot-Marie-Tooth Disease</td>
<td>AR</td>
</tr>
<tr>
<td class="label">Agent</td>
<td>Mechanism</td>
</tr>
<tr>
<td class="label">Rapamycin</td>
<td>[mTOR](/mechanisms/mtor-signaling-pathway) inhibition → ATG7 activation</td>
</tr>
<tr>
<td class="label">Torin 1</td>
<td>mTORC1/2 inhibition</td>
</tr>
<tr>
<td class="label">Carbamazepine</td>
<td>eIF2α phosphorylation</td>
</tr>
<tr>
<td class="label">Spermidine</td>
<td>ATG4 activation</td>
</tr>
<tr>
<td class="label">Associated Diseases</td>
<td><a href="/wiki/als" style="color:#ef9a9a">ALS</a>, <a href="/wiki/alzheimer" style="color:#ef9a9a">ALZHEIMER</a>, <a href="/wiki/alzheimer-disease" style="color:#ef9a9a">ALZHEIMER

ATG7 Gene

<table class="infobox infobox-gene">
<tr>
<th class="infobox-header" colspan="2">ATG7 Gene</th>
</tr>
<tr>
<td class="label">Gene Symbol</td>
<td>ATG7</td>
</tr>
<tr>
<td class="label">Full Name</td>
<td>Autophagy Related 7</td>
</tr>
<tr>
<td class="label">Chromosomal Location</td>
<td>3p22.1</td>
</tr>
<tr>
<td class="label">NCBI Gene ID</td>
<td>9459</td>
</tr>
<tr>
<td class="label">OMIM</td>
<td>607760</td>
</tr>
<tr>
<td class="label">Ensembl ID</td>
<td>ENSG00000198271</td>
</tr>
<tr>
<td class="label">UniProt</td>
<td>O95352</td>
</tr>
<tr>
<td class="label">Gene Type</td>
<td>Protein-coding</td>
</tr>
<tr>
<td class="label">Disease</td>
<td>Inheritance</td>
</tr>
<tr>
<td class="label">Charcot-Marie-Tooth Disease</td>
<td>AR</td>
</tr>
<tr>
<td class="label">Agent</td>
<td>Mechanism</td>
</tr>
<tr>
<td class="label">Rapamycin</td>
<td>[mTOR](/mechanisms/mtor-signaling-pathway) inhibition → ATG7 activation</td>
</tr>
<tr>
<td class="label">Torin 1</td>
<td>mTORC1/2 inhibition</td>
</tr>
<tr>
<td class="label">Carbamazepine</td>
<td>eIF2α phosphorylation</td>
</tr>
<tr>
<td class="label">Spermidine</td>
<td>ATG4 activation</td>
</tr>
<tr>
<td class="label">Associated Diseases</td>
<td><a href="/wiki/als" style="color:#ef9a9a">ALS</a>, <a href="/wiki/alzheimer" style="color:#ef9a9a">ALZHEIMER</a>, <a href="/wiki/alzheimer-disease" style="color:#ef9a9a">ALZHEIMER DISEASE</a>, <a href="/wiki/amyotrophic-lateral-sclerosis" style="color:#ef9a9a">AMYOTROPHIC LATERAL SCLEROSIS</a>, <a href="/wiki/ataxia" style="color:#ef9a9a">ATAXIA</a></td>
</tr>
<tr>
<td class="label">KG Connections</td>
<td><a href="/atlas" style="color:#4fc3f7">823 edges</a></td>
</tr>
</table>

Pathway Diagram

Introduction

Atg7 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.

ATG7 ([Autophagy](/entities/autophagy) Related 7) is an essential autophagy gene encoding the E1-like activating enzyme for the ATG8 and ATG12 conjugation systems. It is critical for autophagosome formation and has been implicated in multiple neurodegenerative diseases.

Overview

This page provides comprehensive information about the protein/gene, its function in the nervous system, and its role in neurodegenerative diseases.

Basic Information

Function

ATG7 encodes an E1-like enzyme essential for two ubiquitin-like conjugation systems:

• ATG8 conjugation: ATG7 activates LC3/GABARAP proteins, enabling their attachment to phosphatidylethanolamine on autophagosomal membranes
• ATG12 conjugation: ATG7 activates ATG12 for its conjugation to ATG5
• Autophagosome formation: These conjugation systems are required for autophagosome nucleation, expansion, and closure
• Selective autophagy: ATG7 is required for selective degradation of protein aggregates, damaged organelles, and intracellular pathogens
• Neuronal function: ATG7-mediated autophagy is essential for neuronal survival and function

Disease Associations

Expression

ATG7 is ubiquitously expressed with high levels in:

• Brain ([cortex](/brain-regions/cortex), [hippocampus](/brain-regions/hippocampus), cerebellum)
• Liver
• Heart
• Skeletal muscle

Key Publications

Therapeutic Implications

ATG7 and the autophagy machinery represent important therapeutic targets:

• Alzheimer's Disease: Enhancing ATG7-mediated autophagy may improve clearance of [amyloid-beta](/proteins/amyloid-beta) plaques and [tau](/proteins/tau) tangles. Rapamycin ([mTOR](/entities/mtor) inhibitor) enhances autophagy via ATG7.
• Parkinson's Disease: ATG7-dependent autophagy is critical for clearing [alpha-synuclein](/proteins/alpha-synuclein) aggregates. Boosting autophagy may protect dopaminergic [neurons](/entities/neurons).
• Huntington's Disease: ATG7 enhancement could accelerate clearance of mutant [huntingtin protein](/proteins/huntingtin-protein) aggregates.
• Amyotrophic Lateral Sclerosis: Restoring autophagy flux may address [TDP-43](/proteins/tdp-43) and SOD1 aggregate clearance.

Drug Development Status

Research Directions

Animal Models

• ATG7 conditional knockout mice: Brain-specific deletion causes neurodegeneration, protein aggregate accumulation, and premature death
• Liver-specific ATG7 KO: Shows accumulation of damaged organelles and tumorigenesis
• Fly models: ATG7 loss causes neurodegeneration and lifespan reduction

Clinical Relevance

ATG7 dysfunction and altered expression are associated with:

• Neurodegenerative diseases: Reduced ATG7 in AD and PD brains
• Cancer: ATG7 can be required for tumor growth in some contexts
• Metabolic disorders: ATG7 in pancreatic beta-cell function and diabetes

Summary

ATG7 is an essential autophagy protein that mediates the ATG5-ATG12 conjugation and LC3 lipidation. Its loss leads to severe neurodegeneration in animal models. Therapeutic enhancement of ATG7 activity may help clear toxic protein aggregates in neurodegenerative diseases.

Key Takeaways

• E1-like enzyme for ATG12 and ATG8/LC3
• Essential for autophagosome formation
• Brain-specific deletion causes neurodegeneration
• Declines with aging
• Therapeutic modulation via mTOR inhibitors and spermidine

Background

The study of Atg7 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.

References

^{[[1]](https://pubmed.ncbi.nlm.nih.gov/17392302/)} ATG7 and autophagy in neurodegeneration. PMID: 17392302(https://pubmed.ncbi.nlm.nih.gov/17392302/)

• Autophagy-Lysosomal Pathway
• Protein Quality Control Network
• ATG5 Protein
• LC3 Protein
• [Alzheimer's Disease](/diseases/alzheimers-disease)

External Links

Brain Atlas Resources

• [Allen Human Brain Atlas - ATG7 Expression](https://human.brain-map.org/microarray/search/show?search_term=ATG7)
• [Allen Cell Type Atlas - ATG7](https://celltypes.brain-map.org/)
• [BrainSpan - ATG7 Developmental Expression](https://brainspan.org/)
• [Allen Mouse Brain Atlas - ATG7](https://mouse.brain-map.org/)
• [NCBI Gene: ATG7](https://www.ncbi.nlm.nih.gov/gene/9459)
• [UniProt: ATG7](https://www.uniprot.org/uniprot/O95352)
• [GeneCards: ATG7](https://www.genecards.org/cgi-bin/carddisp.pl?gene=ATG7)

Pathway Diagram

The following diagram shows the key molecular relationships involving ATG7 Gene discovered through SciDEX knowledge graph analysis:

GWAS Evidence

Genetic associations from the [NHGRI-EBI GWAS Catalog](https://www.ebi.ac.uk/gwas/) supporting gene-disease relationships:

• rs9497975 — HIV-1 control (p = 7.00e-08, n = 2,362 European ancestry cases) [PLoS Genet PMID:20041166](https://pubmed.ncbi.nlm.nih.gov/20041166/)
• rs212388 — Crohn's disease (p = 3.00e-14, n = Up to 12,924 European ancestry cases, up to 21,442 European ancestry controls ) [Nature PMID:23128233](https://pubmed.ncbi.nlm.nih.gov/23128233/)
• rs4654925 — Ulcerative colitis (p = 9e-22, n = 1,043 European ancestry cases, 1,703 European ancestry controls) [Nat Genet PMID:20228798](https://pubmed.ncbi.nlm.nih.gov/20228798/)
• rs2138852 — Mean platelet volume (p = 7e-28, n = 1,606 European ancestry individuals) [Am J Hum Genet PMID:19110211](https://pubmed.ncbi.nlm.nih.gov/19110211/)
• rs12049330 — Major depressive disorder (p = 6.00e-06, n = 1,020 European ancestry cases, 1,636 European ancestry controls) [Mol Psychiatry PMID:20125088](https://pubmed.ncbi.nlm.nih.gov/20125088/)
• rs1128334 — Systemic lupus erythematosus (p = 2.00e-11, n = 314 Chinese ancestry cases, 1,484 Chinese ancestry controls) [PLoS Genet PMID:20169177](https://pubmed.ncbi.nlm.nih.gov/20169177/)