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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
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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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