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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Assigned HPA protein class(es) for the encoded protein(s).
Cancer-related genes Disease related genes Human disease related genes
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
3
Cytoband
p25.3
Chromosome location (bp)
10141778 - 10153667
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Involved in the ubiquitination and subsequent proteasomal degradation via the von Hippel-Lindau ubiquitination complex 1,2,3. Seems to act as a target recruitment subunit in the E3 ubiquitin ligase complex and recruits hydroxylated hypoxia-inducible factor (HIF) under normoxic conditions 4,5. Involved in transcriptional repression through interaction with HIF1A, HIF1AN and histone deacetylases 6,7. Ubiquitinates, in an oxygen-responsive manner, ADRB2 8. Acts as a negative regulator of mTORC1 by promoting ubiquitination and degradation of RPTOR 9....show less
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Ubl conjugation pathway
Gene summary (Entrez)i
Useful information about the gene from Entrez
This gene encodes a component of a ubiquitination complex. The encoded 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. In addition to oxygen-related gene expression, this protein plays a role in many other cellular processes including cilia formation, cytokine signaling, regulation of senescence, and formation of the extracellular matrix. Variants of this gene are associated with von Hippel-Lindau syndrome, pheochromocytoma, erythrocytosis, renal cell carcinoma, and cerebellar hemangioblastoma. [provided by RefSeq, Jun 2022]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
P40337 [Direct mapping] von Hippel-Lindau disease tumor suppressor
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A0A024R2F2 [Target identity:100%; Query identity:100%] von Hippel-Lindau tumor suppressor isoform 2; von Hippel-Lindau tumor suppressor, isoform CRA_a
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Candidate cancer biomarkers Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Germline Mutations COSMIC Frameshift Mutations Disease related genes Human disease related genes Cancers Cancers of the urinary system Cancers of endocrine organs Cardiovascular diseases Hematologic diseases Congenital malformations Other congenital malformations Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0000902[cell morphogenesis] GO:0003711[transcription elongation factor activity] GO:0003714[transcription corepressor activity] GO:0004842[ubiquitin-protein transferase activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005737[cytoplasm] GO:0005739[mitochondrion] GO:0005783[endoplasmic reticulum] GO:0005829[cytosol] GO:0006351[DNA-templated transcription] GO:0006355[regulation of DNA-templated transcription] GO:0006508[proteolysis] GO:0008285[negative regulation of cell population proliferation] GO:0009968[negative regulation of signal transduction] GO:0010468[regulation of gene expression] GO:0010507[negative regulation of autophagy] GO:0010629[negative regulation of gene expression] GO:0016020[membrane] GO:0016567[protein ubiquitination] GO:0019899[enzyme binding] GO:0034244[negative regulation of transcription elongation by RNA polymerase II] GO:0043066[negative regulation of apoptotic process] GO:0043232[intracellular non-membrane-bounded organelle] GO:0045597[positive regulation of cell differentiation] GO:0045893[positive regulation of DNA-templated transcription] GO:0046426[negative regulation of receptor signaling pathway via JAK-STAT] GO:0050821[protein stabilization] GO:0060090[molecular adaptor activity] GO:0061428[negative regulation of transcription from RNA polymerase II promoter in response to hypoxia] GO:0061912[selective autophagy] GO:0071456[cellular response to hypoxia] GO:0140297[DNA-binding transcription factor binding] GO:1900037[regulation of cellular response to hypoxia] GO:1990000[amyloid fibril formation] GO:1990756[ubiquitin ligase-substrate adaptor activity] GO:2000060[positive regulation of ubiquitin-dependent protein catabolic process]
P40337 [Direct mapping] von Hippel-Lindau disease tumor suppressor
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A0A0S2Z4K1 [Target identity:100%; Query identity:100%] von Hippel-Lindau tumor suppressor isoform 1; von Hippel-Lindau tumor suppressor, isoform CRA_d
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Candidate cancer biomarkers Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Germline Mutations COSMIC Frameshift Mutations Disease related genes Human disease related genes Cancers Cancers of the urinary system Cancers of endocrine organs Cardiovascular diseases Hematologic diseases Congenital malformations Other congenital malformations Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0000902[cell morphogenesis] GO:0003711[transcription elongation factor activity] GO:0003714[transcription corepressor activity] GO:0004842[ubiquitin-protein transferase activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005737[cytoplasm] GO:0005739[mitochondrion] GO:0005783[endoplasmic reticulum] GO:0005829[cytosol] GO:0006351[DNA-templated transcription] GO:0006355[regulation of DNA-templated transcription] GO:0006508[proteolysis] GO:0008285[negative regulation of cell population proliferation] GO:0009968[negative regulation of signal transduction] GO:0010468[regulation of gene expression] GO:0010507[negative regulation of autophagy] GO:0010629[negative regulation of gene expression] GO:0016020[membrane] GO:0016567[protein ubiquitination] GO:0019899[enzyme binding] GO:0034244[negative regulation of transcription elongation by RNA polymerase II] GO:0043066[negative regulation of apoptotic process] GO:0043232[intracellular non-membrane-bounded organelle] GO:0045597[positive regulation of cell differentiation] GO:0045893[positive regulation of DNA-templated transcription] GO:0046426[negative regulation of receptor signaling pathway via JAK-STAT] GO:0050821[protein stabilization] GO:0060090[molecular adaptor activity] GO:0061428[negative regulation of transcription from RNA polymerase II promoter in response to hypoxia] GO:0061912[selective autophagy] GO:0071456[cellular response to hypoxia] GO:0140297[DNA-binding transcription factor binding] GO:1900037[regulation of cellular response to hypoxia] GO:1990000[amyloid fibril formation] GO:1990756[ubiquitin ligase-substrate adaptor activity] GO:2000060[positive regulation of ubiquitin-dependent protein catabolic process]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Germline Mutations COSMIC Frameshift Mutations Human disease related genes Cancers Cancers of the urinary system Cancers of endocrine organs Cardiovascular diseases Hematologic diseases Congenital malformations Other congenital malformations Protein evidence (Ezkurdia et al 2014)
SCAMPI predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Germline Mutations COSMIC Frameshift Mutations Human disease related genes Cancers Cancers of the urinary system Cancers of endocrine organs Cardiovascular diseases Hematologic diseases Congenital malformations Other congenital malformations Protein evidence (Ezkurdia et al 2014)
The Human Protein Atlas project is funded
