VHL

GENE INFORMATION

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Gene name

VHL (HGNC Symbol)

Synonyms

VHL1

Description

Von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase (HGNC Symbol)

Entrez gene 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]

Chromosome

3

Cytoband

p25.3

Chromosome location (bp)

10141008 - 10152220

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000134086 (version 78.38)

Entrez gene

7428

UniProt

P40337 (UniProt - Evidence at protein level)

neXtProt

NX_P40337

Antibodypedia

VHL antibodies
 

PROTEIN VIEW

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VHL-001
 
VHL-002
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

VHL-001 ENSP00000256474
ENST00000256474
P40337
Show all »
Show » Show » 213 24.2 No 0
VHL-002 ENSP00000344757
ENST00000345392
P40337
Show all »
Show » Show » 172 19.7 No 0