BCO1 Gene Summary [Human]
Vitamin A metabolism is important for vital processes such as vision, embryonic development, cell differentiation, and membrane and skin protection. The protein encoded by this gene is a key enzyme in beta-carotene metabolism to vitamin A. It catalyzes the oxidative cleavage of beta,beta-carotene into two retinal molecules. [provided by RefSeq, Jul 2008]
Details
| Type | Nonsense Mediated Decay |
| Official Symbol | BCO1 |
| Official Name | beta-carotene oxygenase 1 [Source:HGNC Symbol;Acc:HGNC:13815] |
| Ensembl ID | ENSG00000135697 |
| Bio databases IDs | |
| Aliases | beta-carotene oxygenase 1 |
| Synonyms | BCDO, BCDO1, BCMO, BCMO1, BCO, beta-carotene oxygenase 1, beta-CD, betaCMOOX, CMO1, Cmoi, β-carotene oxygenase 1, β-CD, β Cmoox, β,β carotene 15,15' dioxygenase |
| 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 BCO1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- PLN02258
- beta-carotene 15,15'-monooxygenase
- Retinal pigment epithelial membrane protein
- enzyme
Pathways
Biological processes and signaling networks where the BCO1 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
- acute myeloid leukemia
- weight gain
- hepatic steatosis
- sialadenitis
- autosomal dominant hypercarotenemia and vitamin A deficiency
- congenital malformation
regulated by
- vitamin A
- heavy metal
- tretinoin
- ISX
- beta-apo-8'-carotenal
- beta-naphthoflavone
- pentobarbital
- Ro41-5253
- beta-apo-12'-carotenal
- fenretinide
role in cell
- size
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
- cytosol
- cytosolic fraction
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human BCO1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- retinoid metabolic process
- retinol metabolic process
- carotene catabolic process
- retinal metabolic process
- vitamin A biosynthetic process
Cellular Component
Where in the cell the gene product is active
- cytosol
Molecular Function
What the gene product does at the molecular level
- beta-carotene 15,15'-monooxygenase activity
- metal ion binding
- carotenoid dioxygenase activity