Tchem VHL von Hippel-Lindau disease tumor suppressor

Protein Summary

Description

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. 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]

Uniprot Accession IDs

• P40337
• B2RE45
• Q13599
• Q6PDA9

Gene Name

• VHL

Ensembl ID

• ENST00000256474
• ENSP00000256474
• ENSG00000134086
• ENST00000345392
• ENSP00000344757

Symbol

• RCA1
• VHL1
• pVHL
• HRCA1

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
hub protein	0.97
phenotype	0.81
biological process	0.78
biological term	0.74
kinase	0.72

Protein Classes

PANTHER Classes

Protein / Ligase / Von Hippel-lindau Disease Tumor Suppressor

DTO Classes

Protein / Enzyme / Ligase / Von Hippel-lindau Disease Tumor Suppressor

IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 375.57   (req: < 5)

Gene RIFs: 587   (req: <= 3)

Antibodies: 674   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 375.57   (req: >= 5)

Gene RIFs: 587   (req: > 3)

Antibodies: 674   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 19

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligands: 18

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0