Best1 bestrophin 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Best1provided by MGI
Official Full Name: bestrophin 1provided by MGI
Primary source: MGI:MGI:1346332
See related: Ensembl:ENSMUSG00000037418 AllianceGenome:MGI:1346332
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Bmd; Vmd2; mBest1
Summary: Predicted to enable chloride channel activity and identical protein binding activity. Acts upstream of or within detection of light stimulus involved in visual perception and regulation of calcium ion transport. Predicted to be located in basolateral plasma membrane. Predicted to be part of chloride channel complex. 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, Apr 2022]
Expression: Restricted expression toward testis adult (RPKM 147.6) See more
Orthologs: human all
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Genomic context

Location:: 19 A; 19 6.24 cM

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	19	NC_000085.7 (9962536..9978997, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	19	NC_000085.6 (9985172..10001633, complement)

Chromosome 19 - NC_000085.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Bestrophin1-mediated tonic GABA release from reactive astrocytes prevents the development of seizure-prone network in kainate-injected hippocampi.
Title: Bestrophin1-mediated tonic GABA release from reactive astrocytes prevents the development of seizure-prone network in kainate-injected hippocampi.
NEDD4L is an E3 ubiquitin ligase of bestrophin-1. WW3-4 domains of NEDD4L are required for the interaction with bestrophin-1.Lysine370 of BEST1 plays a critical role in poly-ubiquitination.
Title: The E3 ubiquitin ligase, NEDD4L (NEDD4-2) regulates bestrophin-1 (BEST1) by ubiquitin-dependent proteolysis.
14-3-3gamma promotes surface expression of Best1 channel in astrocytes through direct interaction.
Title: Direct interaction with 14-3-3γ promotes surface expression of Best1 channel in astrocyte.
Data suggest that the ion channels CaV1.3, bestrophin-1 and maxiK were identified as players in the regulation of photoreceptor outer segments (POS) phagocytosis by the retinal pigment epithelium (RPE).
Title: Contribution of Ion Channels in Calcium Signaling Regulating Phagocytosis: MaxiK, Cav1.3 and Bestrophin-1.
Best1-mediated astrocytic glutamate activates the synaptic N-methyl-D-aspartate receptor (NMDAR) and modulates NMDAR-dependent synaptic plasticity.
Title: Channel-mediated astrocytic glutamate modulates hippocampal synaptic plasticity by activating postsynaptic NMDA receptors.
Bestrophin-1 functions as an intracellular Cl channel which helps to accumulate and to release Ca(2+) from stores by conducting the counterion for Ca(2+).
Title: The role of bestrophin-1 in intracellular Ca(2+) signaling.
Best1, located at the microdomains near the synaptic junctions, has a significantly high permeability to glutamate in vivo.
Title: High glutamate permeability and distal localization of Best1 channel in CA1 hippocampal astrocyte.
Results show that different mutations in Best1 cause differential effects on its localization and that this effect varies with the presence or absence of wild-type (WT) Best1.
Title: Differential effects of Best disease causing missense mutations on bestrophin-1 trafficking.
Astrocytic glutamate via Best1 channel targets and activates synaptic NMDA receptors.
Title: Channel-mediated astrocytic glutamate release via Bestrophin-1 targets synaptic NMDARs.
Upon activation of protease activated receptor 1 (PAR1), an increase in intracellular Ca2+ concentration leads to an opening of Best1 channels and subsequent release of glutamate in cultured astrocytes.
Title: Protease activated receptor 1-induced glutamate release in cultured astrocytes is mediated by Bestrophin-1 channel but not by vesicular exocytosis.

Submit: New GeneRIF Correction See all GeneRIFs (24)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (4) 1 citation
Endonuclease-mediated (3)

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables bicarbonate channel activity	ISO Inferred from Sequence Orthology more info
enables chloride channel activity	ISO Inferred from Sequence Orthology more info
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables intracellularly calcium-gated chloride channel activity	ISO Inferred from Sequence Orthology more info
enables ligand-gated channel activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of_or_within chloride transport	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within detection of light stimulus involved in visual perception	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in gamma-aminobutyric acid secretion, neurotransmission	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in glutamate secretion	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within monoatomic ion transmembrane transport	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within monoatomic ion transport	IEA Inferred from Electronic Annotation more info
involved_in protein complex oligomerization	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within regulation of calcium ion transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of synaptic plasticity	IDA Inferred from Direct Assay more info	PubMed
involved_in transepithelial chloride transport	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in basal plasma membrane	ISO Inferred from Sequence Orthology more info
located_in basolateral plasma membrane	ISO Inferred from Sequence Orthology more info
part_of chloride channel complex	ISO Inferred from Sequence Orthology more info
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in membrane microdomain	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: bestrophin-1

Names: best macular dystrophy; vitelliform macular dystrophy 2 homolog; vitelliform macular dystrophy protein 2 homolog

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.