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    Vhl von Hippel-Lindau [ Drosophila melanogaster (fruit fly) ]

    Gene ID: 53433, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Vhlprovided by FlyBase
    Official Full Name
    von Hippel-Lindauprovided by FlyBase
    Primary source
    FLYBASE:FBgn0041174
    Locus tag
    Dmel_CG13221
    See related
    AllianceGenome:FB:FBgn0041174
    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
    BcDNA:RH61560; CG13221; d-vhl; d-VHL; Dmel\CG13221; dmVHL; dVHL; Dvhl; DVhl; vhl; VHL
    Summary
    Involved in several processes, including microtubule cytoskeleton organization; protein export from nucleus; and respiratory system development. Part of VCB complex. Is expressed in embryonic/larval tracheal dorsal trunk; embryonic/larval tracheal transverse connective; embryonic/larval visceral tracheal branch; and organism. Used to study von Hippel-Lindau disease. Human ortholog(s) of this gene implicated in several diseases, including pancreatic cancer (multiple); pheochromocytoma; polycythemia (multiple); renal cell carcinoma; and von Hippel-Lindau disease. Orthologous to several human genes including VHL (von Hippel-Lindau tumor suppressor). [provided by Alliance of Genome Resources, Dec 2024]
    Orthologs
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    Genomic context

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    See Vhl in Genome Data Viewer
    Location:
    47E5-47E6; 2-64 cM
    Exon count:
    1
    Annotation release Status Assembly Chr Location
    Release 6.54 current Release 6 plus ISO1 MT (GCF_000001215.4) 2R NT_033778.4 (11279725..11281033)
    Release 5.57 previous assembly Release 5 (GCF_000001215.2) 2R NT_033778.3 (7167230..7168538)

    Chromosome 2R - NT_033778.4Genomic Context describing neighboring genes Neighboring gene Cuticular protein 47Eg Neighboring gene uncharacterized protein Neighboring gene uncharacterized protein Neighboring gene uncharacterized protein Neighboring gene F-box and leucine-rich repeat protein 6 Neighboring gene uncharacterized protein

    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. Arginine refolds, stabilizes, and restores function of mutant pVHL proteins in animal model of the VHL cancer syndrome. Shmueli MD, et al. Oncogene, 2019 Feb. PMID 30194449
    2. Computational and experimental characterization of dVHL establish a Drosophila model of VHL syndrome. Shmueli MD, et al. PLoS One, 2014. PMID 25310726, Free PMC Article
    3. Analysis of the hypoxia-sensing pathway in Drosophila melanogaster. Arquier N, et al. Biochem J, 2006 Jan 15. PMID 16176182, Free PMC Article
    4. Comparative Expression Profiling of Wild Type Drosophila Malpighian Tubules and von Hippel-Lindau Haploinsufficient Mutant. Ignesti M, et al. Front Physiol, 2019. PMID 31191337, Free PMC Article
    5. pVHL-mediated SMAD3 degradation suppresses TGF-β signaling. Zhou J, et al. J Cell Biol, 2022 Jan 3. PMID 34860252, Free PMC Article

    See all (58) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Von Hippel-Lindau tumor suppressor (VHL) stimulates TOR signaling by interacting with phosphoinositide 3-kinase (PI3K).
      Title: Von Hippel-Lindau tumor suppressor (VHL) stimulates TOR signaling by interacting with phosphoinositide 3-kinase (PI3K).
    2. In both models, L- as well as D-arginine enhanced the ability of wild-type pVHL and certain misfolded mutant versions of pVHL to bind ODD, the HIF-derived target peptide, reflecting restoration of pVHL function. Moreover, continuous feeding of Drosophila expressing misfolded versions of pVHL either L- or D-arginine rich diet rescued their lethal phenotype.
      Title: Arginine refolds, stabilizes, and restores function of mutant pVHL proteins in animal model of the VHL cancer syndrome.
    3. Interaction between Nm23 and the tumor suppressor VHL
      Title: Interaction between Nm23 and the tumor suppressor VHL.
    4. Transgenic pVHL can fully maintain normal dVHL-HIF1-alpha downstream pathways in flies.
      Title: Computational and experimental characterization of dVHL establish a Drosophila model of VHL syndrome.
    5. Codepletion of Vhl with Mgr gives partial rescue of tubulin instability, monopolar spindle formation, and loss of centrosomes.
      Title: Drosophila Mgr, a Prefoldin subunit cooperating with von Hippel Lindau to regulate tubulin stability.
    6. The results establish a developmental function of the VHL gene that is relevant to its tumor-suppressor activity.
      Title: Drosophila VHL tumor-suppressor gene regulates epithelial morphogenesis by promoting microtubule and aPKC stability.
    7. findings reveal a second type of tracheal hypoxic response in which Sima activation conflicts with developmental tracheogenesis, and identify the dVHL and ago ubiquitin ligases as key determinants of hypoxia sensitivity in tracheal cells
      Title: Regulation of Drosophila embryonic tracheogenesis by dVHL and hypoxia.
    Submit: New GeneRIF Correction

    Pathways from PubChem

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    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 protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in centrosome cycle IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in epithelial cell migration, open tracheal system IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in establishment or maintenance of polarity of follicular epithelium IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in lumen formation, open tracheal system IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in mitotic spindle assembly IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in negative regulation of microtubule depolymerization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in open tracheal system development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in protein export from nucleus IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in protein ubiquitination IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein ubiquitination IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of cellular response to hypoxia IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in trachea development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of VCB complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of VCB complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    von Hippel-Lindau
    Names
    CG13221-PA
    CG13221-PB
    Vhl-PA
    Vhl-PB
    von hippel lindau
    von hippel lindau protein

    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_033778.4 Reference assembly

      Range
      11279725..11281033
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_080247.3 → NP_524986.1  von Hippel-Lindau, isoform A [Drosophila melanogaster]

      See identical proteins and their annotated locations for NP_524986.1

      Status: REVIEWED

      UniProtKB/Swiss-Prot
      Q9V3C1
      UniProtKB/TrEMBL
      A0A0B4KEJ4, Q2XYJ4
      Related
      FBpp0087216
      Conserved Domains (1) summary
      cd05468
      Location:21 → 162
      pVHL; von Hippel-Landau (pVHL) tumor suppressor protein

    2. NM_001273956.1 → NP_001260885.1  von Hippel-Lindau, isoform B [Drosophila melanogaster]

      See identical proteins and their annotated locations for NP_001260885.1

      Status: REVIEWED

      UniProtKB/Swiss-Prot
      Q9V3C1
      UniProtKB/TrEMBL
      A0A0B4KEJ4, Q2XYJ4
      Conserved Domains (1) summary
      cd05468
      Location:21 → 162
      pVHL; von Hippel-Landau (pVHL) tumor suppressor protein
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A0A0B4KEJ4 A0A0B4KEJ4
    Q2XYJ4 Q2XYJ4
    Q9V3C1.1 Q9V3C1

    Gene LinkOut

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