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    Vhl von Hippel-Lindau tumor suppressor [ Mus musculus (house mouse) ]

    Gene ID: 22346, updated on 12-Nov-2024

    Summary

    Official Symbol
    Vhlprovided by MGI
    Official Full Name
    von Hippel-Lindau tumor suppressorprovided by MGI
    Primary source
    MGI:MGI:103223
    See related
    Ensembl:ENSMUSG00000033933 AllianceGenome:MGI:103223
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Vhlh; pVHL
    Summary
    Predicted to enable several functions, including DNA-binding transcription factor binding activity; transcription elongation factor activity; and ubiquitin-like ligase-substrate adaptor activity. Involved in regulation of postsynapse organization and regulation protein catabolic process at postsynapse. Acts upstream of or within several processes, including camera-type eye morphogenesis; enteroendocrine cell differentiation; and regulation of apoptotic process. Located in cilium; cytoplasm; and nuclear lumen. Part of Cul2-RING ubiquitin ligase complex. Is active in glutamatergic synapse and postsynaptic density. Is expressed in several structures, including extraembryonic component; eye; genitourinary system; gut; and nervous system. Used to study familial erythrocytosis 2; sudden infant death syndrome; and 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, Nov 2024]
    Expression
    Ubiquitous expression in testis adult (RPKM 26.4), CNS E14 (RPKM 13.7) and 28 other tissues See more
    Orthologs
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    Genomic context

    See Vhl in Genome Data Viewer
    Location:
    6 E3; 6 52.81 cM
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 6 NC_000072.7 (113600955..113608595)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 6 NC_000072.6 (113623994..113631634)

    Chromosome 6 - NC_000072.7Genomic Context describing neighboring genes Neighboring gene Fanconi anemia, complementation group D2 Neighboring gene STARR-seq mESC enhancer starr_17044 Neighboring gene Fancd2 opposite strand Neighboring gene BRICK1, SCAR/WAVE actin-nucleating complex subunit Neighboring gene STARR-positive B cell enhancer ABC_E2798 Neighboring gene STARR-seq mESC enhancer starr_17046 Neighboring gene interleukin-1 receptor-associated kinase 2 Neighboring gene STARR-positive B cell enhancer ABC_E6467 Neighboring gene STARR-positive B cell enhancer ABC_E6468 Neighboring gene STARR-positive B cell enhancer ABC_E3671 Neighboring gene STARR-positive B cell enhancer ABC_E9672 Neighboring gene STARR-positive B cell enhancer ABC_E1707 Neighboring gene STARR-seq mESC enhancer starr_17051 Neighboring gene STARR-positive B cell enhancer ABC_E6469 Neighboring gene TatD DNase domain containing 2 Neighboring gene microRNA 7042

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables DNA-binding transcription factor binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables enzyme binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables molecular adaptor activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein-containing complex binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein-containing complex binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables transcription elongation factor activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables ubiquitin-like ligase-substrate adaptor activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables ubiquitin-like ligase-substrate adaptor activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Process Evidence Code Pubs
    acts_upstream_of_or_within angiogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within blood vessel endothelial cell migration IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within camera-type eye morphogenesis IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within camera-type eye morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within ciliary body morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of endothelial cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within extracellular matrix organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within eye pigmentation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within homeostasis of number of retina cells IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of hypoxia-inducible factor-1alpha signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within iris morphogenesis IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within iris morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within melanin metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of TORC1 signaling ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    acts_upstream_of_or_within negative regulation of endothelial cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within negative regulation of gene expression IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within negative regulation of hypoxia-inducible factor-1alpha signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within negative regulation of thymocyte apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of transcription by RNA polymerase II ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in neuron differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in neuron differentiation ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within pancreatic A cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within positive regulation of epithelial cell proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within proteasomal protein catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in proteasome-mediated ubiquitin-dependent protein catabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    acts_upstream_of_or_within protein catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within protein transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in protein ubiquitination IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in protein ubiquitination IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of DNA-templated transcription ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within regulation of apoptotic signaling pathway IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in regulation of catecholamine metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of catecholamine metabolic process ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within regulation of gene expression IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of postsynapse organization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of postsynapse organization IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in regulation of postsynapse organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within regulation of protein localization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within regulation of thymocyte apoptotic process IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in regulation protein catabolic process at postsynapse IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation protein catabolic process at postsynapse IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in regulation protein catabolic process at postsynapse IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in response to ethanol IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to hypoxia ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within type B pancreatic cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    part_of Cul2-RING ubiquitin ligase complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of VCB complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of VCB complex IEA
    Inferred from Electronic Annotation
    more info
     
    part_of VCB complex ISO
    Inferred from Sequence Orthology
    more info
     
    located_in cilium IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in endoplasmic reticulum ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in endoplasmic reticulum ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    is_active_in glutamatergic synapse IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in glutamatergic synapse IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    is_active_in glutamatergic synapse IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    is_active_in intracellular non-membrane-bounded organelle ISO
    Inferred from Sequence Orthology
    more info
     
    located_in nucleolus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in postsynaptic density IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in postsynaptic density IEP
    Inferred from Expression Pattern
    more info
    PubMed 

    General protein information

    Preferred Names
    von Hippel-Lindau disease tumor suppressor
    Names
    von Hippel-Lindau syndrome protein homolog

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_009507.4NP_033533.1  von Hippel-Lindau disease tumor suppressor

      See identical proteins and their annotated locations for NP_033533.1

      Status: VALIDATED

      Source sequence(s)
      AC153987
      Consensus CDS
      CCDS20429.1
      UniProtKB/Swiss-Prot
      P40338
      UniProtKB/TrEMBL
      Q3TTE7
      Related
      ENSMUSP00000039418.8, ENSMUST00000035673.8
      Conserved Domains (1) summary
      pfam01847
      Location:27171
      VHL; von Hippel-Lindau disease tumour suppressor protein

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000072.7 Reference GRCm39 C57BL/6J

      Range
      113600955..113608595
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)