BECN1 (Beclin 1) Gene: Autophagy Regulator and Tumor Suppressor
A comprehensive biomedical overview of BECN1, a key autophagy-related gene implicated in cancer, neurodegeneration, and infection.
Gene Information Card
| Symbol | BECN1 |
|---|---|
| Full Name | Beclin 1 |
| Gene Type | protein coding |
| Chromosomal Location | 17q21.31 |
| NCBI Gene ID | 8678 ncbi.nlm.nih.gov/gene/8678 |
| Ensembl ID | ENSG00000126561 |
| UniProt ID | Q14457 |
| OMIM ID | 604378 |
| HGNC ID | 1034 |
| Aliases | ATG6, VPS30, beclin1 |
Description
BECN1 (Beclin 1) is a core component of the class III phosphatidylinositol 3-kinase (PI3K) complex, essential for the initiation of autophagy. It functions as a tumor suppressor and plays critical roles in various cellular processes including apoptosis, endocytosis, and immune response. BECN1 is frequently monoallelically deleted in human cancers, and its reduced expression is associated with poor prognosis. Additionally, BECN1 is involved in neuroprotection and defense against pathogens.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (breast, ovarian, prostate, etc.) | Monoallelic deletion or reduced expression of BECN1 leads to impaired autophagy, promoting tumorigenesis and progression. | Multiple studies; COSMIC and ClinVar records show somatic deletions and mutations in various cancers. |
| Neurodegenerative disorders (Alzheimer's, Parkinson's) | Impaired autophagy due to BECN1 deficiency leads to accumulation of misfolded proteins and neuronal damage. | Experimental models and human tissue studies; OMIM and PubMed references. |
| Infectious diseases (viral and bacterial) | BECN1-mediated autophagy is involved in pathogen clearance; some pathogens exploit BECN1 to evade immune response. | Research articles; UniProt and PubMed. |
| Crohn's disease | Genetic variants in BECN1 may affect autophagy in intestinal epithelium, contributing to inflammation. | GWAS and functional studies; ClinVar. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | High | High expression in neurons and glial cells. |
| Heart | Moderate | Moderate expression in cardiac muscle. |
| Liver | High | High expression in hepatocytes. |
| Kidney | Moderate | Moderate expression in renal tubular cells. |
| Skeletal Muscle | Low | Low expression in muscle tissue. |
| Lung | Moderate | Moderate expression in alveolar cells. |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | High | Cervical cancer cell line; high BECN1 expression. |
| MCF7 | Moderate | Breast cancer cell line; reduced expression compared to normal. |
| HEK293 | High | Embryonic kidney cells; high expression. |
| A549 | Moderate | Lung carcinoma cell line; moderate expression. |
| HepG2 | High | Liver cancer cell line; high expression. |
| SH-SY5Y | Moderate | Neuroblastoma cell line; moderate expression. |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1Val) | Missense | Rare | May affect protein stability and autophagy function. |
| c.113G>A (p.Arg38His) | Missense | Rare | Potential loss of function; associated with cancer risk. |
| c.364C>T (p.Arg122Ter) | Nonsense | Rare | Truncated protein; likely loss of function. |
| c.464G>A (p.Arg155His) | Missense | Rare | May impair interaction with BCL2. |
| c.587A>G (p.Asn196Ser) | Missense | Rare | Unknown effect; possibly benign. |
Mutation functional classification
Loss of Function (LOF)
Mutations that reduce or abolish BECN1 protein function, such as nonsense or frameshift mutations, lead to impaired autophagy and increased cancer susceptibility.
Gain of Function (GOF)
No clear gain-of-function mutations have been reported; BECN1 primarily acts as a tumor suppressor, and overexpression is generally protective.
Dominant Negative (DN)
Some missense mutations may exert dominant-negative effects by disrupting the autophagy complex, but evidence is limited.
View complete mutation data：
Gene Ontology (GO)
| • autophagy | • protein binding |
| • phosphatidylinositol 3-kinase binding | • apoptosis |
| • response to starvation | • cellular response to stress |
| • endosome transport | • regulation of cell death |
Pathways
• Autophagy - animal
• Mitophagy
• PI3K-Akt signaling pathway
• Endocytosis
• Apoptosis
• Regulation of autophagy
Protein Summary
Beclin 1 is a 450-amino acid protein that contains a Bcl-2 homology 3 (BH3) domain, a coiled-coil domain, and an evolutionarily conserved domain (ECD). It interacts with multiple partners, including BCL2, ATG14, and VPS34, to regulate autophagy. Beclin 1 is essential for autophagosome formation and is a haploinsufficient tumor suppressor. Its expression is often reduced in cancers, and restoration of BECN1 can inhibit tumor growth. Additionally, Beclin 1 plays roles in neuroprotection and immune response.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| BECN1 Knockout HEK293 Cell Line | EDJ-KQ1024 | Human | 8678 | Details Get a Quote |
| BECN1 Knockout A-549 Cell Line | EDJ-KQ20113 | Human | 8678 | Details Get a Quote |
| BECN1 Knockout HCT 116 Cell Line | EDJ-KQ20114 | Human | 8678 | Details Get a Quote |
| BECN1 Knockout HeLa Cell Line | EDJ-KQ20115 | Human | 8678 | Details Get a Quote |
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