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    Best1 Bestrophin 1 [ Drosophila melanogaster (fruit fly) ]

    Gene ID: 53431, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Best1provided by FlyBase
    Official Full Name
    Bestrophin 1provided by FlyBase
    Primary source
    FLYBASE:FBgn0040238
    Locus tag
    Dmel_CG6264
    See related
    AllianceGenome:FB:FBgn0040238
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Drosophila melanogaster
    Lineage
    Eukaryota; Metazoa; Ecdysozoa; Arthropoda; Hexapoda; Insecta; Pterygota; Neoptera; Endopterygota; Diptera; Brachycera; Muscomorpha; Ephydroidea; Drosophilidae; Drosophila; Sophophora
    Also known as
    anon-WO0118547.380; best; CG6264; Dbest; dbest1; dBest1; dmBest1; Dmel\CG6264
    Summary
    Enables intracellularly calcium-gated chloride channel activity and volume-sensitive chloride channel activity. Involved in chloride transport and intracellular water homeostasis. Located in plasma membrane. Is expressed in adult head and spermatozoon. Human ortholog(s) of this gene implicated in autosomal dominant vitreoretinochoroidopathy; bestrophinopathy; macular degeneration; retinitis pigmentosa 50; and vitelliform macular dystrophy. Orthologous to several human genes including BEST2 (bestrophin 2); BEST3 (bestrophin 3); and BEST4 (bestrophin 4). [provided by Alliance of Genome Resources, Dec 2024]
    Orthologs
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    Genomic context

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    See Best1 in Genome Data Viewer
    Location:
    85F15-85F16; 3-49 cM
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    Release 6.54 current Release 6 plus ISO1 MT (GCF_000001215.4) 3R NT_033777.3 (10161464..10170487, complement)
    Release 5.57 previous assembly Release 5 (GCF_000001215.2) 3R NT_033777.2 (5987186..5996209, complement)

    Chromosome 3R - NT_033777.3Genomic Context describing neighboring genes Neighboring gene invadolysin Neighboring gene uncharacterized protein Neighboring gene uncharacterized protein Neighboring gene uncharacterized protein Neighboring gene Synapsin Neighboring gene Tissue inhibitor of metalloproteases

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Rescue of volume-regulated anion current by bestrophin mutants with altered charge selectivity. Chien LT, et al. J Gen Physiol, 2008 Nov. PMID 18955594, Free PMC Article
    2. Single Cl- channels activated by Ca2+ in Drosophila S2 cells are mediated by bestrophins. Chien LT, et al. J Gen Physiol, 2006 Sep. PMID 16940553, Free PMC Article
    3. Drosophila bestrophin-1 currents are regulated by phosphorylation via a CaMKII dependent mechanism. Duran C, et al. PLoS One, 2013. PMID 23554946, Free PMC Article
    4. Drosophila bestrophin-1 chloride current is dually regulated by calcium and cell volume. Chien LT, et al. J Gen Physiol, 2007 Nov. PMID 17968025, Free PMC Article
    5. Glial Chloride Channels in the Function of the Nervous System Across Species. Fernandez-Abascal J, et al. Adv Exp Med Biol, 2021. PMID 35138616, Free PMC Article

    See all (41) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Bestrophin 1 (dBest1) as the Drosophila Cl(swell) channel
      Title: Anion-sensitive fluorophore identifies the Drosophila swell-activated chloride channel in a genome-wide RNA interference screen.
    2. bestrophin-1 chloride current is dually regulated by calcium and cell volume
      Title: Drosophila bestrophin-1 chloride current is dually regulated by calcium and cell volume.
    3. Here it is reported that bestrophin1 is a component of native Calcium channel at the plasma membrane.
      Title: Single Cl- channels activated by Ca2+ in Drosophila S2 cells are mediated by bestrophins.
    4. Using heterologous expression, we show here that human, Drosophila, and C. elegans bestrophins form oligomeric chloride channels, and that human bestrophin is sensitive to intracellular calcium
      Title: The vitelliform macular dystrophy protein defines a new family of chloride channels.
    Submit: New GeneRIF Correction

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Homology

    Gene Ontology Provided by FlyBase

    Function Evidence Code Pubs
    enables chloride channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables chloride channel activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables chloride channel activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables intracellularly calcium-gated chloride channel activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables volume-sensitive chloride channel activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables volume-sensitive chloride channel activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cell volume homeostasis IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in cell volume homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in chloride transport IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in intracellular water homeostasis IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    bestrophin 1
    Names
    Best1-PA
    Best1-PB
    Best1-PC
    Best1-PD
    CG6264-PA
    CG6264-PB
    CG6264-PC
    CG6264-PD

    NCBI Reference Sequences (RefSeq)

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    Genome Annotation

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference assembly

    Genomic

    1. NT_033777.3 Reference assembly

      Range
      10161464..10170487 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001144561.2 → NP_001138033.1  bestrophin 1, isoform B [Drosophila melanogaster]

      See identical proteins and their annotated locations for NP_001138033.1

      Status: REVIEWED

      UniProtKB/TrEMBL
      B7Z0U6
      Conserved Domains (1) summary
      pfam01062
      Location:8 → 322
      Bestrophin; Bestrophin, RFP-TM, chloride channel

    2. NM_144346.4 → NP_652603.1  bestrophin 1, isoform A [Drosophila melanogaster]

      See identical proteins and their annotated locations for NP_652603.1

      Status: REVIEWED

      UniProtKB/TrEMBL
      Q9V3J6
      Related
      FBpp0081661
      Conserved Domains (1) summary
      pfam01062
      Location:8 → 322
      Bestrophin; Bestrophin, RFP-TM, chloride channel

    3. NM_001275523.1 → NP_001262452.1  bestrophin 1, isoform D [Drosophila melanogaster]

      See identical proteins and their annotated locations for NP_001262452.1

      Status: REVIEWED

      UniProtKB/TrEMBL
      A0A0B4KGQ2
      Conserved Domains (1) summary
      pfam01062
      Location:8 → 322
      Bestrophin; Bestrophin, RFP-TM, chloride channel

    4. NM_001260089.2 → NP_001247018.1  bestrophin 1, isoform C [Drosophila melanogaster]

      See identical proteins and their annotated locations for NP_001247018.1

      Status: REVIEWED

      UniProtKB/TrEMBL
      A0A0B4K651
      Conserved Domains (1) summary
      pfam01062
      Location:8 → 322
      Bestrophin; Bestrophin, RFP-TM, chloride channel
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A0A0B4K651 A0A0B4K651
    A0A0B4KGQ2 A0A0B4KGQ2
    B7Z0U6 B7Z0U6
    Q9V3J6 Q9V3J6

    Gene LinkOut

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