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  Domain Name: pVHL
von Hippel-Landau (pVHL) tumor suppressor protein. von Hippel-Landau (pVHL) protein, the gene product of VHL, is a critical regulator of the ubiquitous oxygen-sensing pathway. It is conserved throughout evolution, as its homologs are found in organisms ranging from mammals to the Drosophila melanogaster, Anopheles gambiae insects and the Caenorhabditis elegans nematode. pVHL acts as the substrate recognition component of an E3 ubiquitin ligase complex. Several proteins have been identified as pVHL-binding proteins that are subject to ubiquitin-mediated proteolysis; the best characterized putative substrates are the alpha subunits of the hypoxia-inducible factor (HIF1alpha, HIF2alpha, and HIF3alpha). In addition to HIF degradation, pVHL has been implicated to be involved in HIF independent cellular processes. Germline VHL mutations cause renal cell carcinomas, hemangioblastomas and pheochromocytomas in humans. pVHL can bind to and direct the proper deposition of fibronectin and collagen IV within the extracellular matrix. It works to stabilize microtubules and foster the maintenance of primary cilium. It also has been reported to promote the stabilization and activation of p53 in a HIF-independent manner and, in neuronal cells, promote apoptosis by down-regulation of Jun-B.
No pairwise interactions are available for this conserved domain.

Total Mutations Found: 19
Total Disease Mutations Found: 19
This domain occurred 2 times on human genes (3 proteins).



  ERYTHROCYTOSIS, FAMILIAL, 2
  ERYTHROCYTOSIS, FAMILIAL, 2, INCLUDED;;
  HEMANGIOBLASTOMA, SPORADIC CEREBELLAR
  PHEOCHROMOCYTOMA
  PHEOCHROMOCYTOMA, INCLUDED
  POLYCYTHEMIA, CHUVASH TYPE
  RENAL CELL CARCINOMA WITH PARANEOPLASTIC ERYTHROCYTOSIS
  RENAL CELL CARCINOMA, SOMATIC
  VON HIPPEL-LINDAU SYNDROME
  VON HIPPEL-LINDAU SYNDROME, INCLUDED


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Range on the Protein:  

   Protein ID            Protein Position

Domain Position:  


Feature Name:Total Found:
pVHL-HIF-1alpha interacti
pVHL-ElonginB-ElonginC (V














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Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.

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