Molecule Information

General Information of the Molecule (ID: Mol01844)

• Name: Von Hippel-Lindau disease tumor suppressor (VHL) ,Homo sapiens
• Synonyms: Von Hippel-Lindau disease tumor suppressor; Protein G7; pVHL
• Molecule Type: Protein
• Gene Name: VHL
• Gene ID: 7428
• Location: chr3:10,141,778-10,153,667[+]
• Sequence:
  MPRRAENWDEAEVGAEEAGVEEYGPEEDGGEESGAEESGPEESGPEELGAEEEMEAGRPR
  PVLRSVNSREPSQVIFCNRSPRVVLPVWLNFDGEPQPYPTLPPGTGRRIHSYRGHLWLFR
  DAGTHDGLLVNQTELFVPSLNVDGQPIFANITLPVYTLKERCLQVVRSLVKPENYRRLDI
  VRSLYEDLEDHPNVQKDLERLTQERIAHQRMGD
• Function: Involved in the ubiquitination and subsequent proteasomal degradation via the von Hippel-Lindau ubiquitination complex. Seems to act as a target recruitment subunit in the E3 ubiquitin ligase complex and recruits hydroxylated hypoxia-inducible factor (HIF) under normoxic conditions. Involved in transcriptional repression through interaction with HIF1A, HIF1AN and histone deacetylases. Ubiquitinates, in an oxygen-responsive manner, ADRB2.
• Uniprot ID: VHL_HUMAN
• Ensembl ID: ENSG00000134086
• HGNC ID: HGNC:12687

Kingdom: Metazoa
Phylum: Chordata
Class: Mammalia
Order: Primates
Family: Hominidae
Genus: Homo
Species: Homo sapiens

Type(s) of Resistant Mechanism of This Molecule

  UAPP: Unusual Activation of Pro-survival Pathway

Drug Resistance Data Categorized by Drug

Approved Drug(s) 1 drug(s) in total

Ruxolitinib

Drug Sensitivity Data Categorized by Their Corresponding Mechanisms

Unusual Activation of Pro-survival Pathway (UAPP)

Disease Class: Familial erythrocytosis 2 [1]

• Sensitive Disease: Familial erythrocytosis 2 [ICD-11: 3A10.2]
• Sensitive Drug: Ruxolitinib
• Molecule Alteration: Missense mutation; p.R200W (c.598C>T)
• Experimental Note: Identified from the Human Clinical Data
• Cell Pathway Regulation: JAKT2/STAT3 signaling pathway; Inhibition; hsa04030

References

• Ref 1: Clinical Improvement with JAK2 Inhibition in Chuvash PolycythemiaN Engl J Med. 2016 Aug 4;375(5):494-6. doi: 10.1056/NEJMc1600337.