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Description for Protein VHL

von Hippel-Lindau tumor suppressor
82 total interacting proteins; 41 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/1)
(platelet: 1)
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] (PubMed Links)
Domains and Motifs:
None Available
Gene Ontology:
Gene Ontology Annotations
KEGG - Enzyme ID(s):
None Available
KEGG - Orthology:
K03871
KEGG - Pathway(s):
hsa04120; hsa05200; hsa05211
(The yellow boxes represents platelet proteins)
Nomenclature / Alternative Names:
HRCA1; RCA1; VHL1; pVHL; Von Hippel-Lindau tumor suppressor isoform 1; Von Hippel-Lindau tumor suppressor isoform 2; Elogin binding protein; G7 protein
Approved Symbol:
VHL
(De-) Phosphorylations:
Total (de-) phosphorylation sites: 7
Human (de-) phosphorylation sites: 7; No platelet phosphorylation sites
Phosphorylation Targets:
Total phosphorylation targets: 0
Human phosphorylation targets: 0;Predicted platelet targets: 0
Protein Characteristics:
Isoform-specific Information
Icon DrugsAssociated Drugs (DrugBank Accession):

None Available

Associated Genetic Diseases:

  • Erythrocytosis, familial, 2(Pd);
  • Hemangioblastoma, sporadic cerebellar(Pd);
  • Pheochromocytoma(Pd);
  • Polycythemia, Chuvash type(Pd);
  • Renal cell carcinoma(Pd);
  • Renal cell carcinoma with paraneoplastic erythrocytosis(Pd);
  • Von Hippel-Lindau syndrome(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 2 : 0
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 01905 Entrez Gene ID: 7428 OMIM ID: 608537 Swissprot Accession: P40337;