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QuickView for VHL (gene)


Gene Symbol:
VHL Homo sapiens Homo sapiens
Full name:
von Hippel-Lindau tumor suppressor
Synonyms:
HRCA1, RCA1, VHL1, pVHL, von Hippel-Lindau disease tumor suppressor, elongin binding protein, protein G7, von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase
Genomic Location:
Chr 3: 10158319-10168762
Description:
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, ...
Orthologs:
Mus musculus Rattus norvegicus Macaca mulatta Gallus gallus Canis lupus familiaris Bos taurus Danio rerio
External Links:
Entrez Gene
Cytogenetic Map:
chr 3
3p25.3





GO Molecular Function

enzyme binding | catalytic activity | ubiquitin-like protein transferase activity | ubiquitin protein ligase activity | protein binding | transcription factor binding | ubiquitin-protein transferase activity | transferase activity | ubiquitin-like protein ligase activity

GO Biological Process

cell morphogenesis | cellular response to decreased oxygen levels | positive regulation of macromolecule biosynthetic process | proteolysis | protein stabilization | regulation of programmed cell death | negative regulation of cellular process | positive regulation of developmental process | negative regulation of RNA biosynthetic process | positive regulation of cellular biosynthetic process | cellular process | negative regulation of signaling | negative regulation of nucleic acid-templated transcription | negative regulation of apoptotic process | response to hypoxia | positive regulation of nitrogen compound metabolic process | negative regulation of cellular metabolic process | regulation of cell differentiation | regulation of cellular process | regulation of apoptotic process | regulation of metabolic process | cellular component organization | response to stimulus | cellular response to hypoxia | negative regulation of JAK-STAT cascade | response to stress | regulation of cell proliferation | negative regulation of metabolic process | positive regulation of RNA biosynthetic process | protein modification process | macromolecule modification | regulation of nucleic acid-templated transcription | response to oxygen levels | nitrogen compound metabolic process | regulation of signal transduction | regulation of protein stability | regulation of gene expression | cellular response to stress | positive regulation of cellular metabolic process | cellular response to oxygen levels | regulation of nitrogen compound metabolic process | protein modification by small protein conjugation | regulation of transcription by RNA polymerase II | ubiquitin protein ligase activity | positive regulation of cell differentiation | negative regulation of transcription from RNA polymerase II promoter in response to hypoxia | regulation of cellular metabolic process | regulation of RNA metabolic process | protein metabolic process | protein ubiquitination | regulation of JAK-STAT cascade | regulation of intracellular signal transduction | negative regulation of intracellular signal transduction | anatomical structure development | metabolic process | regulation of DNA-templated transcription in response to stress | ubiquitin-protein transferase activity | regulation of RNA biosynthetic process | negative regulation of transcription, DNA-templated | negative regulation of programmed cell death | organic substance metabolic process | negative regulation of biosynthetic process | negative regulation of gene expression | negative regulation of transcription from RNA polymerase II promoter in response to stress | protein modification by small protein conjugation or removal | regulation of cell communication | negative regulation of signal transduction | regulation of transcription, DNA-templated | cellular protein metabolic process | regulation of transcription from RNA polymerase II promoter in response to stress | anatomical structure morphogenesis | regulation of developmental process | regulation of transcription from RNA polymerase II promoter in response to hypoxia | developmental process | cellular protein modification process | negative regulation of transcription by RNA polymerase II | positive regulation of transcription, DNA-templated | negative regulation of cell proliferation | positive regulation of nucleic acid-templated transcription | positive regulation of metabolic process | cellular metabolic process | regulation of cell death | negative regulation of cell death | regulation of signaling | positive regulation of gene expression | post-translational protein modification | macromolecule metabolic process

GO Cellular Component

intracellular membrane-bounded organelle | catalytic complex | VCB complex | cell | nuclear lumen | cytoplasm | intracellular organelle | endoplasmic reticulum | ubiquitin ligase complex | protein-containing complex | endomembrane system | nucleoplasm | transferase complex | mitochondrion | membrane-bounded organelle | nucleus | organelle | membrane-enclosed lumen | cytosol | intracellular | cytoplasmic ubiquitin ligase complex | membrane