|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alias
|
HRCA1
PPP1R167
RCVHL
VHL1
VHLTS
|
|
gptkbp:alternativeSplicing
|
yes
|
|
gptkbp:associatedWith
|
gptkb:hemangioblastoma
gptkb:pheochromocytoma
gptkb:von_Hippel-Lindau_disease
clear cell renal cell carcinoma
|
|
gptkbp:biologicalProcess
|
ubiquitin ligase complex component
regulation of cellular response to oxygen levels
|
|
gptkbp:clinicalTrialPhase
|
genetic testing for VHL syndrome
|
|
gptkbp:discoveredBy
|
gptkb:Gregg_L._Semenza
gptkb:Peter_J._Ratcliffe
gptkb:William_G._Kaelin_Jr.
|
|
gptkbp:discoveredIn
|
1993
|
|
gptkbp:encodes
|
gptkb:VHL_protein
|
|
gptkbp:Entrez_Gene_ID
|
7428
|
|
gptkbp:exons
|
3
|
|
gptkbp:expressedIn
|
gptkb:adrenal_gland
gptkb:kidney
retina
pancreas
|
|
gptkbp:fullName
|
von Hippel-Lindau tumor suppressor gene
|
|
gptkbp:function
|
tumor suppressor
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:hasTranscriptVariant
|
2
|
|
gptkbp:HGNC_ID
|
12687
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
VHL gene
|
|
gptkbp:inheritance
|
autosomal dominant
|
|
gptkbp:intronCount
|
2
|
|
gptkbp:length
|
213 amino acids
10,464 bp
|
|
gptkbp:locatedOnChromosome
|
gptkb:chromosome_3
3p25.3
|
|
gptkbp:mutationAssociatedWith
|
germline mutation
somatic mutation
loss of function
increased HIF activity
|
|
gptkbp:OMIM
|
608537
|
|
gptkbp:orthologInMouse
|
Vhl
|
|
gptkbp:orthologInZebrafish
|
vhl
|
|
gptkbp:pathway
|
gptkb:ubiquitin-proteasome_pathway
HIF degradation pathway
|
|
gptkbp:PDB
|
gptkb:1LM8
4AJY
|
|
gptkbp:referenceGenome
|
gptkb:GRCh38
|
|
gptkbp:regulates
|
gptkb:hypoxia-inducible_factor_(HIF)
|
|
gptkbp:UniProtID
|
P40337
|
|
gptkbp:bfsParent
|
gptkb:Clear_cell_adenocarcinoma_of_the_kidney
gptkb:VHL-B
|
|
gptkbp:bfsLayer
|
6
|