About: VHL wt Allele

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Attributes	Values
rdf:type	Class
rdfs:label	VHL wt Allele
equivalentClass	nodeID://b641109
OMIM_Number	608537
GenBank_Accession_Number	NM_000551
Semantic_Type	Gene or Genome
Preferred_Name	VHL wt Allele
UMLS_CUI	C1710601
GO_Annotation	negative regulation of cell proliferationGO:0008285TAS29-SEP-2003CGAP nucleusGO:0005634TAS29-SEP-2003CGAP cytosolGO:0005829TAS29-SEP-2003CGAP transcription factor bindingGO:0008134TAS29-SEP-2003CGAP proteolysis and peptidolysisGO:0006508TAS29-SEP-2003CGAP regulation of cell cycleGO:0000074TAS29-SEP-2003CGAP negative regulation of transcription from Pol II promoterGO:0000122TAS29-SEP-2003CGAP
EntrezGene_ID	7428
Legacy_Concept_Name	VHL_wt_Allele
HGNC_ID	HGNC:12687
FULL_SYN	Von Hippel Lindau Tumor Supressor wt AlleleSYNCI VHL wt AllelePTNCI
Gene_Encodes_Product	Elongin Binding Protein
DEFINITION	Human VHL wild-type allele is located within 3p26-p25 and is approximately 10 kb in length. This allele, which encodes von Hippel-Lindau disease tumor suppressor protein, is involved in the regulation of protein ubiquitination and proteasomal targeting. Mutations in the gene are associated with von Hippel-Lindau syndrome.NCI
code	C53120

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