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Merck

VHL

von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase

Synonyms:
HRCA1, RCA1, VHL1, pVHL
Species:
Human VHL (7428), Mouse Vhl (22346), Rat Vhl (24874), domestic guinea pig Vhl (100729230), sheep VHL (101122897), cow VHL (540957), domestic cat VHL (101092590), dog VHL (494000), chicken VHL (416117), Zebrafish vhl (791202)
UniProtKB ID:
P40337, B2RE45, Q13599, Q6PDA9
Gene ID:
  • Human(7428) 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]
  • Mouse(22346) von Hippel-Lindau tumor suppressor
  • Rat(24874) von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase
  • domestic guinea pig(100729230) von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase
  • sheep(101122897) von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase
  • cow(540957) von Hippel-Lindau tumor suppressor
  • domestic cat(101092590) von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase
  • dog(494000) von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase
  • chicken(416117) von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase
  • Zebrafish(791202) von Hippel-Lindau tumor suppressor
  • fruit fly(53433) von Hippel-Lindau

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