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    bchs blue cheese [ Drosophila melanogaster (fruit fly) ]

    Gene ID: 33819, updated on 9-Dec-2024

    Summary

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    Official Symbol
    bchsprovided by FlyBase
    Official Full Name
    blue cheeseprovided by FlyBase
    Primary source
    FLYBASE:FBgn0043362
    Locus tag
    Dmel_CG14001
    See related
    AllianceGenome:FB:FBgn0043362
    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
    alfy; Alfy; BcDNA:SD12984; bchd; Bchs; beach; Beach1; CG14001; CG9011; DBEACH1; Dmel\CG14001; EP2299
    Summary
    Predicted to enable metal ion binding activity. Involved in several processes, including autophagosome assembly; nervous system development; and positive regulation of organ growth. Located in lysosome; neuromuscular junction; and presynaptic active zone. Is expressed in several structures, including adult head; larval central nervous system; larval internal muscle motor neurons; larval muscle system; and spermatozoon. Used to study autism spectrum disorder and primary autosomal dominant microcephaly 18. Human ortholog(s) of this gene implicated in primary autosomal dominant microcephaly 18. Orthologous to human WDFY3 (WD repeat and FYVE domain containing 3). [provided by Alliance of Genome Resources, Dec 2024]
    Orthologs
    all
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    Genomic context

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    See bchs in Genome Data Viewer
    Location:
    26A1-26A1; 2-18 cM
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    Release 6.54 current Release 6 plus ISO1 MT (GCF_000001215.4) 2L NT_033779.5 (5907169..5922776)
    Release 5.57 previous assembly Release 5 (GCF_000001215.2) 2L NT_033779.4 (5907169..5922776)

    Chromosome 2L - NT_033779.5Genomic Context describing neighboring genes Neighboring gene long non-coding RNA:CR43808 Neighboring gene uncharacterized protein Neighboring gene uncharacterized protein Neighboring gene antisense RNA:CR43926 Neighboring gene uncharacterized protein Neighboring gene dissatisfaction

    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. Gebiss: an ImageJ plugin for the specification of ground truth and the performance evaluation of 3D segmentation algorithms. Kriston-Vizi J, et al. BMC Bioinformatics, 2011 Jun 13. PMID 21668958, Free PMC Article
    2. Multivariate profiling of neurodegeneration-associated changes in a subcellular compartment of neurons via image processing. Kumarasamy SK, et al. BioData Min, 2008 Nov 14. PMID 19014586, Free PMC Article
    3. Glycolipid trafficking in Drosophila undergoes pathway switching in response to aberrant cholesterol levels. Hortsch R, et al. Mol Biol Cell, 2010 Mar 1. PMID 20053687, Free PMC Article
    4. The lysosomal enzyme receptor protein (LERP) is not essential, but is implicated in lysosomal function in Drosophila melanogaster. Hasanagic M, et al. Biol Open, 2015 Sep 24. PMID 26405051, Free PMC Article
    5. The unique GGA clathrin adaptor of Drosophila melanogaster is not essential. Luan S, et al. PLoS One, 2012. PMID 23028818, Free PMC Article

    See all (79) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. blue cheese mutant brains exhibit an elevation in total ceramide levels.
      Title: Ceramides And Stress Signalling Intersect With Autophagic Defects In Neurodegenerative Drosophila blue cheese (bchs) Mutants.
    2. Anterograde transport of lysosomes toward synaptic termini is a key factor in preventing motor neuron degeneration and that Bchs reveals a functional link between the lysosomal degradative pathway and transport.
      Title: The Drosophila BEACH family protein, blue cheese, links lysosomal axon transport with motor neuron degeneration.
    3. Mutations in the Drosophila gene blue cheese (bchs) lead to reduced adult life span, increased neuronal death, and widespread nerouvos system degeneration
      Title: Genetic modifiers of the Drosophila blue cheese gene link defects in lysosomal transport with decreased life span and altered ubiquitinated-protein profiles.
    4. Consistent with a role for Bchs in modulating Rab11-dependent trafficking, Bchs protein is associated with vesicles and extensively colocalized with Rab11 at the neuromuscular junction.
      Title: Bchs, a BEACH domain protein, antagonizes Rab11 in synapse morphogenesis and other developmental events.
    5. blue cheese mutations define a novel, conserved gene involved in progressive neural degeneration.
      Title: blue cheese mutations define a novel, conserved gene involved in progressive neural degeneration.
    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 metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in autophagosome assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in brain development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in chaeta development IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in compound eye development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in fasciculation of motor neuron axon IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in lysosome localization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in microtubule bundle formation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in neuron development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of organ growth IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of protein ubiquitination IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of synapse organization IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in lysosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in neuromuscular junction IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in presynaptic active zone IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    blue cheese
    Names
    Beach1
    Beached1
    CG14001-PA
    bchs-PA
    beached
    beached 1
    dbeach1
    lyst

    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_033779.5 Reference assembly

      Range
      5907169..5922776
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_135124.2 → NP_608968.2  blue cheese [Drosophila melanogaster]

      See identical proteins and their annotated locations for NP_608968.2

      Status: REVIEWED

      UniProtKB/TrEMBL
      Q9VML2
      Related
      FBpp0078775
      Conserved Domains (6) summary
      COG2319
      Location:2991 → 3252
      WD40; WD40 repeat [General function prediction only]
      cd01201
      Location:2469 → 2600
      PH_BEACH; Pleckstrin homology domain in BEACH domain containing proteins
      cd15719
      Location:3418 → 3482
      FYVE_WDFY3; FYVE domain found in WD40 repeat and FYVE domain-containing protein 3 (WDFY3) and similar proteins
      pfam02138
      Location:2638 → 2918
      Beach; Beige/BEACH domain
      sd00039
      Location:3031 → 3070
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:2995 → 3194
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8MRY5 Q8MRY5
    Q9VML2 Q9VML2

    Gene LinkOut

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