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VHL

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GENERAL INFORMATION

Gene name

 VHL

Gene description

 Von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase

Protein class

 Cancer-related genes
Disease related genes
Predicted intracellular proteins

Predicted localization

 Intracellular

Number of transcripts

 2
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HUMAN PROTEIN ATLAS INFORMATION

Summary

 Localized to the nucleoplasm. In addition localized to the cytosol.

RNA cell category

 Expressed in all

Protein evidence

 Evidence at protein level

Main location

 Localized to the Nucleoplasm (validated)

Additional location

 In addition localized to the Cytosol (supported)

GFP

 The location(s) are Validated based on analysis of GFP-tagged protein.

DATA RELIABILITY

Reliability score

 Validated based on 2 antibodies.
HPA031631 , HPA031632
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ASSAYS
RNA expression
Human cells
GFP

RNA EXPRESSION OVERVIEW
RNA cell line category: Expressed in all
Organ
Origin
Category
Expression
Alphabetical
Cell lines sorted after organ of phenotypic resemblance.

HUMAN CELLS

Summary

 Localized to the nucleoplasm. In addition localized to the cytosol.

Main location

 Nucleoplasm (validated)

Additional location

 Cytosol (supported)

 

 

 
Toggle channels
Low
High
G1
S
G2
M
N/A

Thumbnail

Antibody

Cell line

Location

Single-cell variation

Cell cycle dependent variation
HPA031631 HEK 293 Nucleoplasm
HPA031631 MCF7 Nucleoplasm
HPA031632 HEK 293 No staining    
HPA031632 MCF7 Nucleoplasm
HPA031632 U-2 OS Nucleoplasm

GFP

Antibody

 HPA031631

Validation

N-terminal tag
BAC cell line: 5175
Validated: Antibody staining overlaps with GFP tagged protein

 

 

 
Toggle channels
Low
High
G1
S
G2
M
N/A

Thumbnail

Antibody

Cell line

BAC id

Tag

Location antibody staining

Location tagged protein
HPA031631 HeLa 5175 N-terminal Nucleoplasm, Cytosol Nucleoplasm, Cytosol
HPA031631 HeLa Normal - Nucleoplasm -

GENE INFORMATION

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 83.38)

Entrez gene

 7428

UniProt

 P40337 (UniProt - Evidence at protein level)

neXtProt

 NX_P40337

Antibodypedia

 VHL antibodies

PROTEIN BROWSER
VHL-001
VHL-002

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
VHL-001
ENSP00000256474
ENST00000256474
P40337 [Direct mapping]
Von Hippel-Lindau disease tumor suppressor
A0A024R2F2 [Target identity:100%; Query identity:100%]
von Hippel-Lindau tumor suppressor, isoform CRA_a
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Predicted intracellular proteins
Cancer-related genes
   Candidate cancer biomarkers
   Mutated cancer genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Splicing Mutations
   COSMIC Somatic Mutations
   COSMIC Nonsense Mutations
   COSMIC Missense Mutations
   COSMIC Large Deletions
   COSMIC Germline Mutations
   COSMIC Frameshift Mutations
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000122 [negative regulation of transcription from RNA polymerase II promoter]
GO:0000902 [cell morphogenesis]
GO:0004842 [ubiquitin-protein transferase activity]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005739 [mitochondrion]
GO:0005783 [endoplasmic reticulum]
GO:0005829 [cytosol]
GO:0006355 [regulation of transcription, DNA-templated]
GO:0006508 [proteolysis]
GO:0008134 [transcription factor binding]
GO:0008285 [negative regulation of cell proliferation]
GO:0016020 [membrane]
GO:0016567 [protein ubiquitination]
GO:0019899 [enzyme binding]
GO:0030891 [VCB complex]
GO:0043066 [negative regulation of apoptotic process]
GO:0045111 [intermediate filament cytoskeleton]
GO:0045597 [positive regulation of cell differentiation]
GO:0045893 [positive regulation of transcription, DNA-templated]
GO:0050821 [protein stabilization]
GO:0061418 [regulation of transcription from RNA polymerase II promoter in response to hypoxia]
GO:0061428 [negative regulation of transcription from RNA polymerase II promoter in response to hypoxia]
GO:0061630 [ubiquitin protein ligase activity]
GO:0071456 [cellular response to hypoxia]
Show all
 213 aa
24.2 kDa 		No 0
VHL-002
ENSP00000344757
ENST00000345392
P40337 [Direct mapping]
Von Hippel-Lindau disease tumor suppressor
Show all
Predicted intracellular proteins
Cancer-related genes
   Candidate cancer biomarkers
   Mutated cancer genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Splicing Mutations
   COSMIC Somatic Mutations
   COSMIC Nonsense Mutations
   COSMIC Missense Mutations
   COSMIC Large Deletions
   COSMIC Germline Mutations
   COSMIC Frameshift Mutations
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000122 [negative regulation of transcription from RNA polymerase II promoter]
GO:0000902 [cell morphogenesis]
GO:0004842 [ubiquitin-protein transferase activity]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005739 [mitochondrion]
GO:0005783 [endoplasmic reticulum]
GO:0005829 [cytosol]
GO:0006355 [regulation of transcription, DNA-templated]
GO:0006508 [proteolysis]
GO:0008134 [transcription factor binding]
GO:0008285 [negative regulation of cell proliferation]
GO:0016020 [membrane]
GO:0016567 [protein ubiquitination]
GO:0019899 [enzyme binding]
GO:0030891 [VCB complex]
GO:0043066 [negative regulation of apoptotic process]
GO:0045111 [intermediate filament cytoskeleton]
GO:0045597 [positive regulation of cell differentiation]
GO:0045893 [positive regulation of transcription, DNA-templated]
GO:0050821 [protein stabilization]
GO:0061418 [regulation of transcription from RNA polymerase II promoter in response to hypoxia]
GO:0061428 [negative regulation of transcription from RNA polymerase II promoter in response to hypoxia]
GO:0061630 [ubiquitin protein ligase activity]
GO:0071456 [cellular response to hypoxia]
Show all
 172 aa
19.7 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.