InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: VHL

Summary

InnateDB Gene

IDBG-17819.7

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

VHL

Gene Name

von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase

Synonyms

HRCA1; pVHL; RCA1; VHL1

Species

Homo sapiens

Ensembl Gene

ENSG00000134086

Encoded Proteins

IDBP-17821

von Hippel-Lindau tumor suppressor

IDBP-17823

von Hippel-Lindau tumor suppressor

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

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]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 3:10141008-10152220

Strand

Forward strand

Band

p25.3

Transcripts

ENST00000256474	ENSP00000256474
ENST00000345392	ENSP00000344757
ENST00000477538

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 360 experimentally validated interaction(s) in this database.
They are also associated with 10 interaction(s) predicted by orthology.

Experimentally validated
Total	360 [view]
Protein-Protein	358 [view]
Protein-DNA	2 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	10 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004842	ubiquitin-protein transferase activity
GO:0005515	protein binding
GO:0008134	transcription factor binding
GO:0019899	enzyme binding

Biological Process

GO:0000122	negative regulation of transcription from RNA polymerase II promoter
GO:0000902	cell morphogenesis
GO:0006355	regulation of transcription, DNA-templated
GO:0006508	proteolysis
GO:0006950	response to stress
GO:0008285	negative regulation of cell proliferation
GO:0016567	protein ubiquitination
GO:0043066	negative regulation of apoptotic process
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:0071456	cellular response to hypoxia

Cellular Component

GO:0005634	nucleus
GO:0005654	nucleoplasm
GO:0005739	mitochondrion
GO:0005783	endoplasmic reticulum
GO:0005829	cytosol
GO:0016020	membrane
GO:0045111	intermediate filament cytoskeleton