Vhl von Hippel-Lindau tumor suppressor [Rattus norvegicus (Norway rat)] - Gene

Summary

Official Symbol: Vhlprovided by RGD
Official Full Name: von Hippel-Lindau tumor suppressorprovided by RGD
Primary source: RGD:3960
See related: EnsemblRapid:ENSRNOG00000010258 AllianceGenome:RGD:3960
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Rattus norvegicus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
Also known as: Vhlh
Summary: Predicted to enable several functions, including transcription corepressor activity; transcription elongation factor activity; and ubiquitin-like ligase-substrate adaptor activity. Predicted to contribute to ubiquitin-protein transferase activity. Involved in several processes, including regulation of primary metabolic process; response to ethanol; and response to hypoxia. Part of VCB complex. Used to study Parkinsonism. Biomarker of nephroblastoma and urinary bladder cancer. 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]
Expression: Biased expression in Adrenal (RPKM 244.4), Kidney (RPKM 160.7) and 9 other tissues See more
Orthologs: human mouse all
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Genomic context

Location:: 4q42

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCr8 (GCF_036323735.1)	4	NC_086022.1 (148328099..148334992)
RS_2023_06	previous assembly	mRatBN7.2 (GCF_015227675.2)	4	NC_051339.1 (146772483..146779376)
106	previous assembly	Rnor_6.0 (GCF_000001895.5)	4	NC_005103.4 (145580869..145587835)

Chromosome 4 - NC_086022.1 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
BioProject: PRJNA238328
Publication: PMID 24510058
Analysis date: Mon Jun 6 17:44:12 2016

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

VHL gene methylation contributes to excessive erythrocytosis in chronic mountain sickness rat model by upregulating the HIF-2alpha/EPO pathway.
Title: VHL gene methylation contributes to excessive erythrocytosis in chronic mountain sickness rat model by upregulating the HIF-2α/EPO pathway.
VHL functions to induce neuronal differentiation of neural stem/progenitor cells and skin-derived precursors.
Title: BC-Box Motif-Mediated Neuronal Differentiation of Somatic Stem Cells.
that the change of VHL protein expression was related to neuronal apoptosis after spinal cord injury
Title: The Expression of VHL (Von Hippel-Lindau) After Traumatic Spinal Cord Injury and Its Role in Neuronal Apoptosis.
we observed that microtubule network stabilization downregulated Ran-mediated pVHL nuclear accumulation, which in turn led to the upregulation of HIF-1alpha protein
Title: Role of Ran-regulated nuclear-cytoplasmic trafficking of pVHL in the regulation of microtubular stability-mediated HIF-1α in hypoxic cardiomyocytes.
The protein levels of HIF-1alpha were down-regulated through overexpression of pVHL and were up-regulated through knockdown of pVHL in hypoxic cardiomyocytes.
Title: Microtubular stability affects pVHL-mediated regulation of HIF-1alpha via the p38/MAPK pathway in hypoxic cardiomyocytes.
VHL peptide-delivered MSCs differentiated into neuron-like cells, and that engrafted VHL peptide-delivered marrow stromal cells (MSCs) more recovered the behaviors of the rats than that of nondelivered MSCs.
Title: Engrafted VHL peptide-delivered bone marrow stromal cells promote spinal cord repair in rats.
Von Hippel-Lindau protein (VHL) pre-induction by thrombin aggravates glomerulonephritis (GN), and the increase in VHL expression due to Habu snake venom might be involved in accelerating onset of GN.
Title: Modification in the von Hippel-Lindau protein is involved in the progression of experimentally induced rat glomerulonephritis.
Hypoxia induction or normoxic acidosis can neutralize the function of VHL by triggering its nucleolar sequestration, a regulatory mechanism of protein function that is observed rarely.
Title: HIF activation by pH-dependent nucleolar sequestration of VHL.
Significantly greater axonal outgrowth was observed for the Von Hippel-Lindau protein-transfected cells treated with the inhibitor Lavendustin A than for those not so treated.
Title: Lavendustin A enhances axon elongation in VHL gene-transfected neural stem cells.
Endogenous von Hippel-Lindau tumor suppressor protein regulates catecholaminergic phenotype in PC12 cells.
Title: Endogenous von Hippel-Lindau tumor suppressor protein regulates catecholaminergic phenotype in PC12 cells.

Submit: New GeneRIF Correction See all GeneRIFs (13)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

UniSTS:235523 (e-PCR)
- UniSTS:235523

PMC23053P2 (e-PCR)
- UniSTS:272192

RH128791 (e-PCR)
- UniSTS:212099

Gene Ontology Provided by RGD

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	IPI Inferred from Physical Interaction more info	PubMed
enables protein-containing complex binding	ISO Inferred from Sequence Orthology more info
enables transcription corepressor activity	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
contributes_to ubiquitin-protein transferase activity	IC Inferred by Curator more info	PubMed

Process	Evidence Code	Pubs
involved_in amyloid fibril formation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within angiogenesis	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within blood vessel endothelial cell migration	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within camera-type eye morphogenesis	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within ciliary body morphogenesis	ISO Inferred from Sequence Orthology more info
acts_upstream_of endothelial cell differentiation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within extracellular matrix organization	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within eye pigmentation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within homeostasis of number of retina cells	ISO Inferred from Sequence Orthology more info
acts_upstream_of hypoxia-inducible factor-1alpha signaling pathway	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within iris morphogenesis	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within melanin metabolic process	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of TORC1 signaling	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of TORC1 signaling	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of autophagy	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of cell population proliferation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within negative regulation of endothelial cell differentiation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within negative regulation of gene expression	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of gene expression	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within negative regulation of hypoxia-inducible factor-1alpha signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of receptor signaling pathway via JAK-STAT	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of signal transduction	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within negative regulation of thymocyte apoptotic process	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of transcription by RNA polymerase II	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 negative regulation of transcription elongation by RNA polymerase II	ISO Inferred from Sequence Orthology more info
involved_in neuron differentiation	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within pancreatic A cell differentiation	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of DNA-templated transcription	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within positive regulation of epithelial cell proliferation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within proteasomal protein catabolic process	ISO Inferred from Sequence Orthology more info
involved_in proteasome-mediated ubiquitin-dependent protein catabolic process	ISO Inferred from Sequence Orthology more info
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	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within protein transport	ISO Inferred from Sequence Orthology more info
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 protein ubiquitination	ISO Inferred from Sequence Orthology more info
involved_in regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of DNA-templated transcription	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within regulation of apoptotic signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in regulation of catecholamine metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of cellular response to hypoxia	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within regulation of gene expression	ISO Inferred from Sequence Orthology more info
involved_in regulation of gene expression	ISO Inferred from Sequence Orthology more info
involved_in regulation of postsynapse organization	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within regulation of protein localization	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within regulation of thymocyte apoptotic process	ISO Inferred from Sequence Orthology more info
involved_in regulation protein catabolic process at postsynapse	ISO Inferred from Sequence Orthology more info
involved_in response to ethanol	IEP Inferred from Expression Pattern more info	PubMed
involved_in response to hypoxia	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within type B pancreatic cell differentiation	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
part_of Cul2-RING ubiquitin ligase complex	ISO Inferred from Sequence Orthology more info
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
located_in cilium	ISO Inferred from Sequence Orthology more info
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
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	ISO Inferred from Sequence Orthology more info
is_active_in intracellular membraneless organelle	ISO Inferred from Sequence Orthology more info
located_in nucleolus	ISO Inferred from Sequence Orthology more info
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	ISO Inferred from Sequence Orthology more info
located_in plasma membrane	IEA Inferred from Electronic Annotation more info
is_active_in postsynaptic density	ISO Inferred from Sequence Orthology more info
part_of transcription regulator complex	TAS Traceable Author Statement more info	PubMed

General protein information

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Preferred Names: von Hippel-Lindau disease tumor suppressor

Names: pVHL; von Hippel-Lindau protein; von Hippel-Lindau syndrome homolog; von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase

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.