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

Gene ID: 22346, updated on 8-Feb-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 enzyme binding activity and ubiquitin ligase-substrate adaptor activity. Involved in regulation of postsynapse organization and regulation of protein catabolic process at postsynapse, modulating synaptic transmission. Acts upstream of or within several processes, including camera-type eye morphogenesis; enteroendocrine cell differentiation; and regulation of apoptotic process. Located in several cellular components, including cilium; glutamatergic synapse; and nuclear lumen. Part of Cul2-RING ubiquitin ligase complex. Is expressed in several structures, including eye; genitourinary system; gut; heart; 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, Apr 2022]
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
  • 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 ligase-substrate adaptor activity ISO
Inferred from Sequence Orthology
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 
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 ISO
Inferred from Sequence Orthology
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 
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 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 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 
involved_in regulation of postsynapse organization IPI
Inferred from Physical Interaction
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 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 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 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 glutamatergic synapse IPI
Inferred from Physical Interaction
more info
PubMed 
is_active_in intracellular non-membrane-bounded organelle ISO
Inferred from Sequence Orthology
more info
 
located_in membrane IEA
Inferred from Electronic Annotation
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)

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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)