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    BHD Birt-Hogg-Dube [ Drosophila melanogaster (fruit fly) ]

    Gene ID: 38793, updated on 9-Dec-2024

    Summary

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    Official Symbol
    BHDprovided by FlyBase
    Official Full Name
    Birt-Hogg-Dubeprovided by FlyBase
    Primary source
    FLYBASE:FBgn0261111
    Locus tag
    Dmel_CG8616
    See related
    AllianceGenome:FB:FBgn0261111
    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
    CG8616; CT25610; DBHD; dFLCN; Dmel\CG8616
    Summary
    Predicted to contribute to GTPase activator activity. Involved in germ-line stem cell population maintenance and negative regulation of transcription of nucleolar large rRNA by RNA polymerase I. Located in cytoplasm and nucleolus. Is expressed in several structures, including adult central brain; adult optic lobe; adult ventral nerve cord; gonad; and midgut epithelium. Used to study Birt-Hogg-Dube syndrome. Human ortholog(s) of this gene implicated in Birt-Hogg-Dube syndrome; colorectal cancer; primary spontaneous pneumothorax; and renal cell carcinoma. Orthologous to human FLCN (folliculin). [provided by Alliance of Genome Resources, Dec 2024]
    Orthologs
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    Genomic context

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    See BHD in Genome Data Viewer
    Location:
    65E9-65E9; 3-19 cM
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    Release 6.54 current Release 6 plus ISO1 MT (GCF_000001215.4) 3L NT_037436.4 (7238542..7240245)
    Release 5.57 previous assembly Release 5 (GCF_000001215.2) 3L NT_037436.3 (7231642..7233345)

    Chromosome 3L - NT_037436.4Genomic Context describing neighboring genes Neighboring gene uncharacterized protein Neighboring gene uncharacterized protein Neighboring gene Ribosomal protein L18 Neighboring gene Neosin Neighboring gene mitochondrial ribosomal protein L50 Neighboring gene meiotic P22

    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. Genetic characterization of the Drosophila birt-hogg-dubé syndrome gene. Liu W, et al. PLoS One, 2013. PMID 23799055, Free PMC Article
    2. FLCN Maintains the Leucine Level in Lysosome to Stimulate mTORC1. Wu X, et al. PLoS One, 2016. PMID 27280402, Free PMC Article
    3. FLCN: The causative gene for Birt-Hogg-Dubé syndrome. Schmidt LS, et al. Gene, 2018 Jan 15. PMID 28970150, Free PMC Article
    4. The Birt-Hogg-Dubé tumor suppressor Folliculin negatively regulates ribosomal RNA synthesis. Gaur K, et al. Hum Mol Genet, 2013 Jan 15. PMID 23077212, Free PMC Article
    5. The Drosophila homolog of the human tumor suppressor gene BHD interacts with the JAK-STAT and Dpp signaling pathways in regulating male germline stem cell maintenance. Singh SR, et al. Oncogene, 2006 Sep 28. PMID 16636660

    See all (31) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. provides a new animal model of the BHD syndrome and suggests that modulation of the local nutrient condition might be a potential treatment of the BHD lesions
      Title: Genetic characterization of the Drosophila birt-hogg-dubé syndrome gene.
    2. Homolog of human Birt-Hogg-Dube (BHD) syndrome protein is required for male germline stem cell maintenance in the fly testis.
      Title: The Drosophila homolog of the human tumor suppressor gene BHD interacts with the JAK-STAT and Dpp signaling pathways in regulating male germline stem cell maintenance.
    3. The Drosophila homolog of the human tumor suppressor gene BHD interacts with the JAK-STAT and Dpp signaling pathways in regulating male germline stem cell maintenance.
      Title: The Drosophila homolog of the human tumor suppressor gene BHD interacts with the JAK-STAT and Dpp signaling pathways in regulating male germline stem cell maintenance.
    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
    contributes_to GTPase activator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables GTPase activator activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in germ-line stem cell population maintenance IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in negative regulation of transcription of nucleolar large rRNA by RNA polymerase I IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of TORC1 signaling IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of transforming growth factor beta receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleolus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    Birt-Hogg-Dube
    Names
    BHD-PA
    Birt-Hogg-Dube homolog
    Birt-Hogg-Dube syndrome
    CG8616-PA
    GABA A receptor beta3-like
    folliculin homolog

    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_037436.4 Reference assembly

      Range
      7238542..7240245
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_139833.2 → NP_648090.1  Birt-Hogg-Dube [Drosophila melanogaster]

      See identical proteins and their annotated locations for NP_648090.1

      Status: REVIEWED

      UniProtKB/TrEMBL
      Q9VS33
      Related
      FBpp0076545
      Conserved Domains (2) summary
      pfam11704
      Location:67 → 221
      Folliculin; Vesicle coat protein involved in Golgi to plasma membrane transport
      pfam16692
      Location:275 → 459
      Folliculin_C; Folliculin C-terminal domain
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9VS33 Q9VS33

    Gene LinkOut

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