BACE1 Gene: Beta-Secretase 1 - Function, Disease Associations, and Expression
Comprehensive resource on the BACE1 gene, including genomic information, protein function, expression patterns, mutations, and related diseases.
Gene Information Card
| Symbol | BACE1 |
|---|---|
| Full Name | beta-secretase 1 |
| Gene Type | gene with protein product |
| Chromosomal Location | 11q23.3 |
| NCBI Gene ID | 23621 ncbi.nlm.nih.gov/gene/23621 |
| Ensembl ID | ENSG00000186318 |
| UniProt ID | P56817 |
| OMIM ID | 604252 |
| HGNC ID | HGNC:933 |
| Aliases | Asp2, BACE |
Description
The BACE1 gene encodes beta-secretase 1, a transmembrane aspartic protease that cleaves the amyloid precursor protein (APP) to generate amyloid-beta peptides, which are the major component of amyloid plaques in Alzheimer's disease. BACE1 is a key therapeutic target for Alzheimer's disease.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Alzheimer's Disease | BACE1 cleaves APP to produce amyloid-beta, which accumulates in plaques, a hallmark of Alzheimer's disease. Increased BACE1 activity is associated with disease pathogenesis. | OMIM: 604252; multiple studies |
| Mild Cognitive Impairment | Elevated BACE1 activity in cerebrospinal fluid and brain tissue has been observed in individuals with mild cognitive impairment, a prodromal stage of Alzheimer's disease. | PMID: 24632966 |
| Down Syndrome | Individuals with Down syndrome have an extra copy of APP, leading to increased amyloid-beta production. BACE1 activity is also elevated, contributing to early-onset Alzheimer's disease pathology. | PMID: 23362280 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | High | High |
| Pancreas | Medium | Medium |
| Testis | Medium | Medium |
| Liver | Low | Low |
| Kidney | Low | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | High | Neuroblastoma cell line; high BACE1 expression |
| HEK293 | Medium | Embryonic kidney cells; moderate expression |
| HeLa | Low | Cervical cancer cells; low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs638405 | SNP | ~20% | Associated with altered BACE1 expression and increased risk for Alzheimer's disease in some populations. |
| rs11247644 | SNP | ~10% | May affect BACE1 splicing and activity. |
| c.1A>G | Missense | Rare | Potential effect on protein function; not well characterized. |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in BACE1 are rare and may lead to reduced amyloid-beta production, potentially protective against Alzheimer's disease, but may also cause other neurological issues.
Gain of Function (GOF)
Gain-of-function mutations or overexpression of BACE1 can increase amyloid-beta production, contributing to Alzheimer's disease pathology.
Dominant Negative (DN)
No dominant-negative mutations have been reported for BACE1.
View complete mutation data：
Gene Ontology (GO)
| • aspartic-type endopeptidase activity | • peptidase activity |
| • protein homodimerization activity | • amyloid-beta metabolic process |
| • proteolysis | • membrane |
Pathways
• Alzheimer's disease pathway
• Amyloid precursor protein processing
• Notch signaling pathway (via cleavage of Notch receptors)
Protein Summary
Beta-secretase 1 (BACE1) is a type I transmembrane aspartic protease that cleaves the amyloid precursor protein (APP) at the beta-secretase site, generating the N-terminus of amyloid-beta peptides. It is primarily expressed in neurons and is the rate-limiting enzyme in amyloid-beta production. BACE1 is a major drug target for Alzheimer's disease; inhibitors are being developed to reduce amyloid-beta levels.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| BACE1 Knockout HEK293 Cell Line | EDJ-KQ17788 | Human | 23621 | Details Get a Quote |
| BACE1 Knockout A-549 Cell Line | EDJ-KQ19872 | Human | 23621 | Details Get a Quote |
| BACE1 Knockout HCT 116 Cell Line | EDJ-KQ19873 | Human | 23621 | Details Get a Quote |
| BACE1 Knockout HeLa Cell Line | EDJ-KQ19874 | Human | 23621 | Details Get a Quote |
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