BECN1 Gene

BECN1 Gene

Introduction

<table class="infobox infobox-gene">
<tr>
<th class="infobox-header" colspan="2">BECN1 Gene</th>
</tr>
<tr>
<td class="label">Gene Symbol</td>
<td>BECN1</td>
</tr>
<tr>
<td class="label">Full Name</td>
<td>Beclin-1</td>
</tr>
<tr>
<td class="label">Chromosomal Location</td>
<td>17q21.31</td>
</tr>
<tr>
<td class="label">NCBI Gene ID</td>
<td>9451</td>
</tr>
<tr>
<td class="label">OMIM ID</td>
<td>604378</td>
</tr>
<tr>
<td class="label">Ensembl ID</td>
<td>ENSG00000126581</td>
</tr>
<tr>
<td class="label">UniProt ID</td>
<td>Q9Y5P6</td>
</tr>
<tr>
<td class="label">Associated Diseases</td>
<td>[Alzheimer's Disease](/diseases/alzheimers-disease), [Parkinson's Disease](/diseases/parkinsons-disease-disease), Breast Cancer, Neurodegeneration</td>
</tr>
<tr>
<td class="label">Compound</td>
<td>Status</td>
</tr>
<tr>
<td class="label">Rapamycin</td>
<td>FDA approved (organ transplant)</td>
</tr>
<tr>
<td class="label">Metformin</td>
<td>FDA approved (diabetes)</td>
</tr>
<tr>
<td class="label">Trehalose</td>
<td>Preclinical</td>
</tr>
<tr>
<td class="label">Beclin-1 peptides</td>
<td>Preclinical</td>
</tr>
</table>

Becn1 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.

BECN1 Gene

Introduction

<table class="infobox infobox-gene">
<tr>
<th class="infobox-header" colspan="2">BECN1 Gene</th>
</tr>
<tr>
<td class="label">Gene Symbol</td>
<td>BECN1</td>
</tr>
<tr>
<td class="label">Full Name</td>
<td>Beclin-1</td>
</tr>
<tr>
<td class="label">Chromosomal Location</td>
<td>17q21.31</td>
</tr>
<tr>
<td class="label">NCBI Gene ID</td>
<td>9451</td>
</tr>
<tr>
<td class="label">OMIM ID</td>
<td>604378</td>
</tr>
<tr>
<td class="label">Ensembl ID</td>
<td>ENSG00000126581</td>
</tr>
<tr>
<td class="label">UniProt ID</td>
<td>Q9Y5P6</td>
</tr>
<tr>
<td class="label">Associated Diseases</td>
<td>[Alzheimer's Disease](/diseases/alzheimers-disease), [Parkinson's Disease](/diseases/parkinsons-disease-disease), Breast Cancer, Neurodegeneration</td>
</tr>
<tr>
<td class="label">Compound</td>
<td>Status</td>
</tr>
<tr>
<td class="label">Rapamycin</td>
<td>FDA approved (organ transplant)</td>
</tr>
<tr>
<td class="label">Metformin</td>
<td>FDA approved (diabetes)</td>
</tr>
<tr>
<td class="label">Trehalose</td>
<td>Preclinical</td>
</tr>
<tr>
<td class="label">Beclin-1 peptides</td>
<td>Preclinical</td>
</tr>
</table>

Becn1 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.

BECN1 (Beclin-1) is a gene encoding a key autophagy regulator essential for vesicle nucleation and autophagosome formation in the autophagy pathway. [@spencer2009]

Overview

Function

BECN1 encodes beclin-1, a key regulator of autophagy—a cellular process for degrading and recycling damaged organelles, protein aggregates, and intracellular pathogens.

Molecular Function

• [Autophagy](/entities/autophagy) Initiation: Forms part of the PI3K-III complex (VPS34/VPS15/BECN1/ATG14L) to initiate autophagosome nucleation
• Phosphatidylinositol 3-Phosphate Production: Catalyzes PI(3)P generation on isolation membranes
• Autophagosome Maturation: Recruits ATG proteins and facilitates membrane closure
• Endocytic Trafficking: Regulates endocytic pathway and vacuolar protein sorting
• Tumor Suppression: Functions as a haploinsufficient tumor suppressor

Expression Pattern

BECN1 is ubiquitously expressed with high levels in:

• Brain: [Neurons](/entities/neurons), [astrocytes](/entities/astrocytes), [microglia](/entities/microglia)
• Liver: Hepatocytes
• Heart: Cardiac muscle
• Skeletal Muscle: Myocytes

• Synaptic vesicle recycling
• Mitochondrial quality control
• Protein aggregate clearance

Disease Associations

Alzheimer's Disease

Beclin-1 deficiency contributes to AD pathogenesis:

• Reduced autophagy leads to [Aβ](/proteins/amyloid-beta) accumulation
• Autophagic vacuoles accumulate in AD brain
• Beclin-1 reduction exacerbates [Aβ](/proteins/amyloid-beta) pathology in mouse models
• Restoring beclin-1 reduces Aβ plaques

Parkinson's Disease

Beclin-1 plays a protective role in PD:

• [α-Synuclein](/proteins/alpha-synuclein) clearance via autophagy
• Mitochondrial quality control
• Dopaminergic neuron survival
• PINK1/Parkin-mediated mitophagy regulation

ALS

Beclin-1 dysfunction in ALS:

• Impaired autophagy of damaged mitochondria
• Accumulation of protein aggregates
• Motor neuron vulnerability

Cancer

As a tumor suppressor:

• Heterozygous knockout mice develop tumors
• BECN1 mutations in breast, ovarian, prostate cancers
• Autophagy paradox in cancer (pro-tumorigenic vs. tumor-suppressive)

Therapeutic Targeting

Autophagy Enhancers

Gene Therapy

• AAV-mediated BECN1 overexpression
• BECN1-derived peptides (Tat-beclin-1)

Key Publications

See Also

• [Autophagy-Lysosomal Pathway](/mechanisms/autophagy-lysosomal-pathway)
• [ATG Proteins](/proteins/atg-proteins)
• [Alzheimer's Disease](/diseases/alzheimers-disease)
• [Parkinson's Disease](/diseases/parkinsons-disease)
• [Amyotrophic Lateral Sclerosis](/diseases/amyotrophic-lateral-sclerosis)

External Links

• [NCBI Gene: BECN1](https://www.ncbi.nlm.nih.gov/gene/9451)
• [UniProt: Q9Y5P6](https://www.uniprot.org/uniprot/Q9Y5P6)
• [OMIM: 604378](https://www.omim.org/entry/604378)
• [Ensembl: ENSG00000126581](https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000126581)

Background

The study of Becn1 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

Pathway Diagram

The following diagram shows key molecular relationships for BECN1 Gene based on knowledge graph edges:

Pathway Diagram

The following diagram shows the key molecular relationships involving BECN1 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/)
• rs3815087 — (p = 8.00e-08, n = ) [ ](https://www.ebi.ac.uk/gwas/studies/)
• 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/)