BCHE Gene Summary [Human]
This gene encodes a cholinesterase enzyme and member of the type-B carboxylesterase/lipase family of proteins. The encoded enzyme exhibits broad substrate specificity and is involved in the detoxification of poisons including organophosphate nerve agents and pesticides, and the metabolism of drugs including cocaine, heroin and aspirin. Humans homozygous for certain mutations in this gene exhibit prolonged apnea after administration of the muscle relaxant succinylcholine. [provided by RefSeq, Jul 2016]
Details
| Type | Protein Coding |
| Official Symbol | BCHE |
| Official Name | butyrylcholinesterase [Source:HGNC Symbol;Acc:HGNC:983] |
| Ensembl ID | ENSG00000114200 |
| Bio databases IDs | |
| Aliases | butyrylcholinesterase |
| Synonyms | BCHED, BuChE, Butyrylcholine esterase, BUTYRYLCHOLINESTERASE, C730038G20Rik, CHE1, CHE2, E1 |
| 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 BCHE often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- cholinesterase
- Carboxylesterase family
- tryptophan amphiphilic tetramerization domain
- acetylcholinesterase
- binding protein
- alpha/beta hydrolases
- enzyme
- Acetylcholinesterase tetramerization domain
- protein binding
- identical protein binding
- ester bond hydrolase
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- infection
- weight gain
- epithelial cancer
- colorectal cancer
- cognitive impairment
- multiple sclerosis
- depressive disorder
- Alzheimer disease
- Parkinson disease
- traumatic brain injury
role in cell
- proliferation
- differentiation
- cell death
- fibrillogenesis
- response
- development
- synaptic transmission
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- cell surface
- Extracellular Space
- Endoplasmic Reticulum
- endoplasmic reticulum lumen
- perinuclear space
- neuromuscular junctions
- synapse
- plasma
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human BCHE gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- acetylcholine catabolic process
- negative regulation of cell proliferation
- negative regulation of synaptic transmission
- response to alkaloid
- learning
- cocaine metabolic process
- response to glucocorticoid stimulus
- response to folic acid
- xenobiotic metabolic process
- choline metabolic process
- peptide hormone processing
- neuroblast differentiation
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum lumen
- extracellular space
- blood microparticle
- extracellular region
- nuclear envelope lumen
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- hydrolase activity, acting on ester bonds
- identical protein binding
- protein binding
- choline binding
- catalytic activity
- acetylcholinesterase activity
- beta-amyloid binding
- cholinesterase activity
- enzyme binding