Best1 Gene Summary [Mouse]
Enables ligand-gated channel activity. Involved in gamma-aminobutyric acid secretion, neurotransmission; glutamate secretion; and regulation of synaptic plasticity. Acts upstream of or within detection of light stimulus involved in visual perception and regulation of calcium ion transport. Located in membrane microdomain. Is expressed in choroid plexus; neocortex; and telencephalon meninges. Used to study bestrophinopathy and vitelliform macular dystrophy. Human ortholog(s) of this gene implicated in autosomal dominant vitreoretinochoroidopathy; bestrophinopathy; macular degeneration; retinitis pigmentosa 50; and vitelliform macular dystrophy. Orthologous to human BEST1 (bestrophin 1). [provided by Alliance of Genome Resources, Jul 2025]
Details
| Type | Protein Coding |
| Official Symbol | Best1 |
| Official Name | bestrophin 1 [Source:MGI Symbol;Acc:MGI:1346332] |
| Ensembl ID | ENSMUSG00000037418 |
| Bio databases IDs | |
| Aliases | bestrophin 1 |
| Synonyms | ARB, BEST, Best1V1Delta2, BEST2, BESTROPHIN, bestrophin 1, BMD, LOC100504840, mBest1, RP50, TU15B, VMD2 |
| Species | Mouse, Mus musculus |
| 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 mouse Best1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- channel/pore class transporter
- chloride channel
- intracellular calcium activated chloride channel
- protein binding
- Bestrophin, RFP-TM, chloride channel
- identical protein binding
- ion channel
- bicarbonate transporter
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- juvenile onset vitelliform macular dystrophy
- retinal dystrophy
- multifocal Best vitelliform macular dystrophy
- organismal death
- retinitis pigmentosa
- autosomal recessive bestrophinopathy
- autosomal dominant vitreoretinochoroidopathy
- retinitis pigmentosa type 50
- adult-onset vitelliform macular dystrophy
- fundus flavimaculatus
regulates
- Ca2+
- BEST1
- chloride
- L-glutamic acid
- ion
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
- cellular membrane
- Nucleus
- cytoplasmic particles
- cytosol
- microdomains
- basolateral membrane
- basal membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Best1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- glutamate secretion
- detection of light stimulus involved in visual perception
- ion transmembrane transport
- regulation of synaptic plasticity
- transepithelial chloride transport
- regulation of calcium ion transport
- visual perception
- chloride transport
- bicarbonate transport
- protein oligomerization
Cellular Component
Where in the cell the gene product is active
- chloride channel complex
- basal plasma membrane
- membrane
- cytosol
- basolateral plasma membrane
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- identical protein binding
- intracellular calcium activated chloride channel activity
- ligand-gated channel activity
- chloride channel activity
- bicarbonate transmembrane transporter activity