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Von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase (HGNC Symbol)
Entrez gene summary
Von Hippel-Lindau syndrome (VHL) is a dominantly inherited familial cancer syndrome predisposing to a variety of malignant and benign tumors. A germline mutation of this gene is the basis of familial inheritance of VHL syndrome. The protein encoded by this gene is a component of the protein complex that includes elongin B, elongin C, and cullin-2, and possesses ubiquitin ligase E3 activity. This protein is involved in the ubiquitination and degradation of hypoxia-inducible-factor (HIF), which is a transcription factor that plays a central role in the regulation of gene expression by oxygen. RNA polymerase II subunit POLR2G/RPB7 is also reported to be a target of this protein. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]
P40337 [Direct mapping] Von Hippel-Lindau disease tumor suppressor A0A024R2F2 [Target identity:100%; Query identity:100%] von Hippel-Lindau tumor suppressor, isoform CRA_a
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Predicted intracellular proteins Cancer-related genes Candidate cancer biomarkers Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Germline Mutations COSMIC Frameshift Mutations Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0000122 [negative regulation of transcription from RNA polymerase II promoter] GO:0000902 [cell morphogenesis] GO:0004842 [ubiquitin-protein transferase activity] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0005654 [nucleoplasm] GO:0005739 [mitochondrion] GO:0005783 [endoplasmic reticulum] GO:0005829 [cytosol] GO:0006355 [regulation of transcription, DNA-templated] GO:0006508 [proteolysis] GO:0008134 [transcription factor binding] GO:0008285 [negative regulation of cell proliferation] GO:0016020 [membrane] GO:0016567 [protein ubiquitination] GO:0019899 [enzyme binding] GO:0030891 [VCB complex] GO:0043066 [negative regulation of apoptotic process] GO:0045111 [intermediate filament cytoskeleton] GO:0045597 [positive regulation of cell differentiation] GO:0045893 [positive regulation of transcription, DNA-templated] GO:0050821 [protein stabilization] GO:0061418 [regulation of transcription from RNA polymerase II promoter in response to hypoxia] GO:0061428 [negative regulation of transcription from RNA polymerase II promoter in response to hypoxia] GO:0061630 [ubiquitin protein ligase activity] GO:0071456 [cellular response to hypoxia]
P40337 [Direct mapping] Von Hippel-Lindau disease tumor suppressor
Show all
Predicted intracellular proteins Cancer-related genes Candidate cancer biomarkers Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Germline Mutations COSMIC Frameshift Mutations Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000122 [negative regulation of transcription from RNA polymerase II promoter] GO:0000902 [cell morphogenesis] GO:0004842 [ubiquitin-protein transferase activity] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0005654 [nucleoplasm] GO:0005739 [mitochondrion] GO:0005783 [endoplasmic reticulum] GO:0005829 [cytosol] GO:0006355 [regulation of transcription, DNA-templated] GO:0006508 [proteolysis] GO:0008134 [transcription factor binding] GO:0008285 [negative regulation of cell proliferation] GO:0016020 [membrane] GO:0016567 [protein ubiquitination] GO:0019899 [enzyme binding] GO:0030891 [VCB complex] GO:0043066 [negative regulation of apoptotic process] GO:0045111 [intermediate filament cytoskeleton] GO:0045597 [positive regulation of cell differentiation] GO:0045893 [positive regulation of transcription, DNA-templated] GO:0050821 [protein stabilization] GO:0061418 [regulation of transcription from RNA polymerase II promoter in response to hypoxia] GO:0061428 [negative regulation of transcription from RNA polymerase II promoter in response to hypoxia] GO:0061630 [ubiquitin protein ligase activity] GO:0071456 [cellular response to hypoxia]
