InnateDB: Systems Biology of the Innate Immune Response

Mus musculus Gene: Vhl

Summary

InnateDB Gene

IDBG-178105.6

Last Modified

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

Gene Symbol

Vhl

Gene Name

von Hippel-Lindau tumor suppressor

Synonyms

Vhlh

Species

Mus musculus

Ensembl Gene

ENSMUSG00000033933

Encoded Proteins

IDBP-178107

von Hippel-Lindau tumor suppressor

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

Summary

This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000134086:
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 6:113623959-113631633

Strand

Forward strand

Band

Transcripts

ENSMUST00000035673	ENSMUSP00000039418
ENSMUST00000128770
ENSMUST00000131819

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 15 experimentally validated interaction(s) in this database.
They are also associated with 355 interaction(s) predicted by orthology.

Experimentally validated
Total	15 [view]
Protein-Protein	15 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	355 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005515	protein binding
GO:0032403	protein complex binding

Biological Process

GO:0000122	negative regulation of transcription from RNA polymerase II promoter
GO:0001525	angiogenesis
GO:0001666	response to hypoxia
GO:0006355	regulation of transcription, DNA-templated
GO:0010498	proteasomal protein catabolic process
GO:0016567	protein ubiquitination
GO:0030163	protein catabolic process
GO:0030182	neuron differentiation
GO:0030198	extracellular matrix organization
GO:0042069	regulation of catecholamine metabolic process
GO:0043534	blood vessel endothelial cell migration
GO:0045471	response to ethanol
GO:0051291	protein heterooligomerization
GO:0070243	regulation of thymocyte apoptotic process
GO:0070244	negative regulation of thymocyte apoptotic process
GO:2001233	regulation of apoptotic signaling pathway