Protein Vhl

URN	urn:agi-llid:5952
Connectivity	234
Name	Vhl
Description	von Hippel-Lindau tumor suppressor
Notes	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]

Pathway	hypoxia inducible factor pathway
	altered hypoxia inducible factor pathway
	renal cell cancer pathway

GO Molecular Function	transcription factor binding
	ubiquitin-protein ligase activity

GO Cellular Component	membrane
	cytoplasm
	cytosol
	endoplasmic reticulum
	mitochondrion
	VCB complex
	transcription factor complex
	nucleus

GO Biological Process	negative regulation of cell proliferation
	response to stress
	positive regulation of cell differentiation
	angiogenesis
	cell morphogenesis
	neuron differentiation
	extracellular matrix organization
	regulation of catecholamine metabolic process
	regulation of transcription
	negative regulation of transcription from RNA polymerase II promoter
	positive regulation of transcription
	regulation of transcription, DNA-dependent
	anti-apoptosis
	blood vessel endothelial cell migration
	protein ubiquitination
	modification-dependent protein catabolic process
	response to hypoxia
	response to ethanol
	protein stabilization
	protein heterooligomerization
	protein catabolic process
	proteolysis

Ariadne Ontology	Ubiquitin-dependent protein degradation
	Tumor suppressors

Group	Ubiquitin-dependent protein degradation
	Tumor suppressors
	negative regulation of cell proliferation
	response to stress
	positive regulation of cell differentiation
	angiogenesis
	cell morphogenesis
	neuron differentiation
	extracellular matrix organization
	regulation of catecholamine metabolic process
	regulation of transcription
	negative regulation of transcription from RNA polymerase II promoter
	positive regulation of transcription
	regulation of transcription, DNA-dependent
	anti-apoptosis
	blood vessel endothelial cell migration
	protein ubiquitination
	modification-dependent protein catabolic process
	response to hypoxia
	response to ethanol
	protein stabilization
	protein heterooligomerization
	protein catabolic process
	proteolysis
	transcription factor binding
	ubiquitin-protein ligase activity
	membrane
	cytoplasm
	cytosol
	endoplasmic reticulum
	mitochondrion
	VCB complex
	transcription factor complex
	nucleus

MedScan ID	5952

Hugo ID	12687

Human chromosome position	3p26-p25

Alias	RCA1
	VHL1
	HRCA1
	von Hippel-Lindau disease tumor suppressor
	pVHL
	protein G7
	elongin binding protein
	Vhlh
	OTTMUSP00000028703
	von Hippel-Lindau syndrome homolog
	von Hippel-Lindau syndrome protein homolog
	elongin-binding protein
	G7 PROTEIN
	HRCA I
	RCA I
	renal carcinoma, familial, associated 1
	VHL gene
	VHL protein
	Von Hippel-Lindau disease tumour suppressor
	von Hippel-Lindau syndrome gene
	von Hippel-Lindau syndrome protein
	von Hippel-Lindau tumor suppressor
	von Hippel-Lindau tumour suppressor

Mouse chromosome position	6 49.45 cM

Rat chromosome position	4q41.3-q42.1

PIR ID	T10752
	I38926

Homologene ID	465

RGD ID	3960

MGI ID	103223