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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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