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26 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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BACE1
beta-secretase 1
Chromosome 11 · 11q23.3
NCBI Gene: 23621Ensembl: ENSG00000186318.18HGNC: HGNC:933UniProt: A0A7P0TAB4
453PubMed Papers
20Diseases
4Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Protease
RESEARCH IMPACT
Highly StudiedTrending
CLINICAL
Clinical Trials
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
trans-Golgi networkaspartic-type endopeptidase activityproteolysismembrane protein ectodomain proteolysismetabolic diseaseAlzheimer diseasehyperlipidemiaHypercholesterolemia
✦AI Summary

BACE1 (beta-secretase 1) is an aspartic-type endopeptidase that catalyzes the rate-limiting step in amyloid-β (Aβ) generation through proteolytic cleavage of amyloid precursor protein (APP) at the N-terminus of the Aβ peptide sequence, releasing soluble APP and a C-terminal fragment subsequently processed by γ-secretase 1234. BACE1 expression is tightly regulated through leaky scanning and reinitiation mechanisms involving multiple upstream AUGs in its 5' UTR, maintaining relatively low baseline expression 5. Beyond APP processing, BACE1 modulates neuronal IL-6 signaling by cleaving gp130, the IL-6 receptor component, thereby controlling membrane-bound versus soluble gp130 levels and neuronal survival pathways 6. BACE1 phosphorylation at Thr252 by GSK3β enhances its enzymatic activity and alters ligand recognition, with structural differences between human and rat BACE1 potentially explaining clinical trial failures of inhibitors 7. Beyond Alzheimer's disease pathology, BACE1 participates in diverse age-related conditions including metabolic dysfunction, vascular disease, and cancer, where BACE1 inhibition can reprogram tumor-promoting macrophages toward tumor-suppressive phenotypes 89. Genetic studies show BACE1 polymorphisms associate with seizure susceptibility and may confer protective effects in specific populations 1011.

Sources cited
1
BACE1 expression is tightly regulated through leaky scanning and reinitiation mechanisms involving multiple upstream AUGs in its 5' UTR, maintaining relatively low baseline expression .
PMID: 16611980
2
Beyond APP processing, BACE1 modulates neuronal IL-6 signaling by cleaving gp130, the IL-6 receptor component, thereby controlling membrane-bound versus soluble gp130 levels and neuronal survival pathways .
PMID: 36810097
3
BACE1 phosphorylation at Thr252 by GSK3β enhances its enzymatic activity and alters ligand recognition, with structural differences between human and rat BACE1 potentially explaining clinical trial failures of inhibitors .
PMID: 38227464
⚠Limited data available — This gene has 3 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ20
metabolic diseaseOpen Targets
0.42Moderate
Alzheimer diseaseOpen Targets
0.42Moderate
hyperlipidemiaOpen Targets
0.35Weak
HypercholesterolemiaOpen Targets
0.32Weak
familial lipoprotein lipase deficiencyOpen Targets
0.28Weak
inborn disorder of amino acid metabolismOpen Targets
0.26Weak
neurodegenerative diseaseOpen Targets
0.24Weak
neoplasmOpen Targets
0.10Weak
tuberculosisOpen Targets
0.10Suggestive
frozen shoulderOpen Targets
0.09Suggestive
glomerulonephritisOpen Targets
0.08Suggestive
colorectal carcinomaOpen Targets
0.08Suggestive
liver cancerOpen Targets
0.08Suggestive
glioblastoma multiformeOpen Targets
0.08Suggestive
cancerOpen Targets
0.08Suggestive
lung adenocarcinomaOpen Targets
0.07Suggestive
posterior cortical atrophyOpen Targets
0.07Suggestive
attention deficit hyperactivity disorderOpen Targets
0.07Suggestive
smoking initiationOpen Targets
0.07Suggestive
frontotemporal dementiaOpen Targets
0.07Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Drug Targets4
ATABECESTATPhase II/III
Beta-secretase 1 inhibitor
Alzheimer disease
ELENBECESTATPhase III
Beta-secretase 1 inhibitor
Alzheimer disease
LANABECESTATPhase III
Beta-secretase 1 inhibitor
Alzheimer disease
VERUBECESTATPhase III
Beta-secretase 1 inhibitor
Alzheimer disease
Related Genes
APLP2Protein interaction100%CDK5Protein interaction100%CTSBProtein interaction100%CNTN2Protein interaction100%GGA3Protein interaction100%APOEProtein interaction100%
Tissue Expression6 tissues
Brain
100%
Ovary
32%
Liver
29%
Lung
17%
Heart
14%
Bone Marrow
6%
Gene Interaction Network
Click a node to explore
BACE1APLP2CDK5CTSBCNTN2GGA3APOE
PROTEIN STRUCTURE
Preparing viewer…
PDB7MYI · 1.25 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.56Moderately Constrained
pLIⓘ
0.76Intermediate
Observed/Expected LoF0.38 [0.26–0.56]
RankingsWhere BACE1 stands among ~20K protein-coding genes
  • #604of 20,598
    Most Researched453 · top 5%
  • #3,589of 17,882
    Most Constrained (LOEUF)0.56 · top quartile
Genes detectedBACE1
Sources retrieved26 papers
Response time—
📄 Sources
26▼
1
Pharmacological inhibition of BACE1 suppresses glioblastoma growth by stimulating macrophage phagocytosis of tumor cells.
PMID: 35122055
Nat Cancer · 2021
1.00
2
Unmasking BACE1 in aging and age-related diseases.
PMID: 36509631
Trends Mol Med · 2023
0.90
3
BACE1 and BACE2 in pathologic and normal human muscle.
PMID: 12618121
Exp Neurol · 2003
0.84
4
Relationship between the polymorphism in exon 5 of BACE1 gene and Alzheimer's disease.
PMID: 26846559
Aging Clin Exp Res · 2017
0.80
5
Association between BACE1 gene polymorphisms and focal seizures in a Chinese Han population.
PMID: 29595667
Medicine (Baltimore) · 2018
0.70