BACE1 Gene Summary [Human]
This gene encodes a member of the peptidase A1 family of aspartic proteases. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the mature protease. This transmembrane protease catalyzes the first step in the formation of amyloid beta peptide from amyloid precursor protein. Amyloid beta peptides are the main constituent of amyloid beta plaques, which accumulate in the brains of human Alzheimer's disease patients. [provided by RefSeq, Nov 2015]
Details
| Type | Protein Coding |
| Official Symbol | BACE1 |
| Official Name | beta-secretase 1 [Source:HGNC Symbol;Acc:HGNC:933] |
| Ensembl ID | ENSG00000186318 |
| Bio databases IDs | |
| Aliases | beta-secretase 1 |
| Synonyms | ASP2, BACE, Beta-secretase, beta-secretase 1, beta-site APP cleaving enzyme 1, HSPC104, MEMAPSIN 2, β-secretase, β-secretase 1, β-site APP cleaving enzyme 1 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human BACE1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Xylanase inhibitor N-terminal
- protein kinase binding
- ectodomain
- peptidase
- signal peptide
- enzyme binding
- Cellular and retroviral pepsin-like aspartate proteases
- protein binding
- beta-amyloid binding
- phosphorylation site
- endopeptidase
- cytoplasmic domain
- transmembrane domain
- beta-aspartyl-peptidase
- aspartic endopeptidase
- cytosolic tail domain
- Xylanase inhibitor C-terminal
- pro domain
- Eukaryotic aspartyl protease
Pathways
Biological processes and signaling networks where the BACE1 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- hyperactive behavior
- nonfamilial Alzheimer disease
- gait disturbance
- diabetes mellitus
- Down syndrome
- Alzheimer disease
- sporadic inclusion body myositis
- cachexia
- gliosis
- seizures
role in cell
- expression in
- phosphorylation in
- function
- formation
- apoptosis
- production in
- accumulation in
- number
- cell death
- binding in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- detergent-insoluble membrane fraction
- raft fractions
- detergent-soluble membrane fractions
- membrane fraction
- presynaptic regions
- perinuclear Golgi regions
- cell surface
- somatodendritic region
- perinuclear region
- organelle lumens
- cellular membrane
- Plasma Membrane
- endosomes
- vesicles
- lysosome
- Golgi Apparatus
- Endoplasmic Reticulum
- apical cell surfaces
- basolateral cell surfaces
- endoplasmic reticulum lumen
- trans Golgi network
- endosomal compartment
- endosomal membrane
- synaptic vesicles
- growth cone
- neurites
- synapse
- recycling endosomes
- early endosomes
- late endosomes
- cytoplasmic vesicles
- multivesicular bodies
- membrane rafts
- detergent insoluble microdomains
- perikaryon
- axons
- dendrites
- axon terminals
- mossy fiber boutons
- Golgi vesicles
- mossy fibers
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human BACE1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- amyloid precursor protein catabolic process
- prepulse inhibition
- cellular response to copper ion
- positive regulation of neuron apoptotic process
- membrane protein ectodomain proteolysis
- cellular response to manganese ion
- proteolysis
- detection of mechanical stimulus involved in sensory perception of pain
- protein processing
- response to lead ion
- beta-amyloid metabolic process
- beta-amyloid formation
Cellular Component
Where in the cell the gene product is active
- synaptic vesicle
- late endosome
- Golgi apparatus
- neuronal cell body
- multivesicular body
- plasma membrane
- lysosome
- cell surface
- dendrite
- endoplasmic reticulum lumen
- early endosome
- trans-Golgi network
- endosome
- membrane raft
- membrane
- recycling endosome
- endosome membrane
- axon
- Golgi-associated vesicle lumen
Molecular Function
What the gene product does at the molecular level
- protein binding
- aspartic-type endopeptidase activity
- endopeptidase activity
- peptidase activity
- beta-amyloid binding
- enzyme binding
- beta-aspartyl-peptidase activity