VHL

GENERAL INFORMATION

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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

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RNA tissue category

HPA:Expressed in all
GTEx:Expressed in all

Protein evidence

Evidence at protein level

Protein localization

Strong cytoplasmic and membranous staining was observed in the gall bladder and in renal tubules. Distinct staining was also observed in most ductal cells, e.g. in intercalated ducts in pancreas, in salivary ducts and in bile ducts. Most other cell types were negative.

ANTIBODY RELIABILITY

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Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Uncertain based on 1 antibody.
CAB005430
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Expressed in all

Organ

Expression

GTEx dataset
RNA tissue category:  Expressed in all

Organ

Expression



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 BROWSER

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ENST00000256474
 
ENST00000345392
 
 
 
 


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
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Show » Show » 213 24.2 No 0
VHL-002 ENSP00000344757
ENST00000345392
P40337
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Show » Show » 172 19.7 No 0