Von Hippel-Lindau Disease Tumor Suppressor

Preferred Label : Von Hippel-Lindau Disease Tumor Suppressor;

NCIt synonyms : VHL Protein; von Hippel Lindau Tumor Suppressor Protein; pVHL; G7 Protein; Elongin Binding Protein; Protein G7; VHL;

NCIt definition : Von Hippel-Lindau disease tumor suppressor (213 aa, 24 kDa) is encoded by the human VHL gene. This protein plays a role in protein ubiquitination and regulation of protein degradation.;

NCIt note : Von Hippel-Lindau disease tumor suppressor forms a complex with Elongin B-C and cullin-2. This complex is involved in the E3 ubiquitination and degradation of proteins including the HIF-1 transcription factor complex.;

Details

Origin ID

C17814;

UMLS CUI

C0299505;

Currated CISMeF NLP mapping
- VHL protein, human [MeSH concept]
- VHL protein, human [MeSH Supplementary Concept]
OMIM relation
- Von hippel-lindau tumor suppressor [OMIM gene]
Semantic type(s)
- Amino Acid, Peptide, or Protein [UMLS semantic type]
- Enzyme [UMLS semantic type]
UMLS correspondences (same concept)
- VHL protein, human [MeSH concept]
- VHL protein, human [MeSH Supplementary Concept]
Validated automatic mappings to NTBT
- von Hippel-Lindau tumor suppressor protein [MeSH concept]
- von hippel-lindau tumor suppressor protein [MeSH Descriptor]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_encodes_gene_product
- Regulatory Gene [NCIt concept]
- VHL Gene [NCIt concept]
gene_product_expressed_in_tissue
- Brain [NCIt concept]
- Kidney [NCIt concept]
gene_product_is_element_in_pathway
- Angiogenesis Pathway [NCIt concept]
- HIF-1-Alpha Transcription Factor Pathway [NCIt concept]
- Hypoxia and Oxygen Homeostasis Regulation of HIF-1-Alpha Pathway [NCIt concept]
- Hypoxia-Inducible Factor Pathway [NCIt concept]
- Renal Cell Carcinoma Pathway [NCIt concept]
- Ubiquitin-mediated Proteolysis Pathway [NCIt concept]
- VEGFR1 and VEGFR2 Signaling [NCIt concept]
gene_product_is_physical_part_of
- E3 Ubiquitin-Protein Transferase [NCIt concept]
gene_product_malfunction_associated_with_disease
- Von Hippel Lindau Syndrome [NCIt concept]
gene_product_plays_role_in_biological_process
- Transcriptional Regulation [NCIt concept]
- Ubiquitination [NCIt concept]

Keyword's position in hierarchy(ies) :

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