Show pageOld revisionsBacklinksFold/unfold allBack to top This page is read only. You can view the source, but not change it. Ask your administrator if you think this is wrong. ======= VHLL ======= == Gene Information == * **<color #00a2e8>Official Symbol</color>**: VHLL * **<color #00a2e8>Official Name</color>**: VHL like * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=391104|391104]] * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q6RSH7|Q6RSH7]] * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=VHLL&organism=9606|BioGRID]] * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20VHLL|Open PubMed]] * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/619650|Open OMIM]] == Function Summary == * **<color #00a2e8>Entrez Summary</color>**: Von Hippel-Lindau (VHL) tumor suppressor protein is a component of an E3 ubiquitin ligase complex that selectively ubiquitinates the alpha subunit of the hypoxia-inducible factor (HIF) transcription factor for proteasome-mediated degradation. Inactivation of VHL causes VHL disease and sporadic kidney cancer. This gene encodes a VHL homolog that lacks one of two key domains necessary for VHL function. This gene may contribute to the regulation of oxygen homeostasis and neovascularization during placenta development. This gene is intronless, and can also be interpreted as a retrotransposed pseudogene of the VHL locus located on chromosome 3. However, the protein is represented in this RefSeq due to evidence in PMID:14757845 that strongly suggests it is translated. The same publication also indicates that this protein binds HIF alpha but fails to recruit the E3 ubiquitin ligase complex, and it therefore functions as a dominant-negative VHL protein and a protector of HIF alpha. [provided by RefSeq, Jan 2010]. * **<color #00a2e8>UniProt Summary</color>**: Functions as a dominant-negative VHL to serve as a protector of HIFalpha. {ECO:0000269|PubMed:14757845}. <button type='primary' size='sm' modal='Pfam_Domains'>Pfam Domains</button> <button type='primary' size='sm' modal='GO_terms'>GO Terms</button> <modal id='Pfam_Domains' size='lg' title='Pfam Domains'> |VHL| </modal> <modal id='GO_terms' size='lg' title='GO Terms'> |VCB complex| |ubiquitin protein ligase activity| |protein ubiquitination| |protein modification by small protein conjugation| |protein modification by small protein conjugation or removal| </modal> \\ === CRISPR Data === <button type='primary' size='small' modal='Compound_Hit'>Compound Hit</button> <button type='default' size='small' modal='Most_Correlated_Genes'>Most Correlated Genes in Chemogenomics</button> <button type='primary' size='small' modal='Essential_Avana'>Tissues where Essential in the Avana Dataset (DepMap 20Q1)</button> <modal id='Compound_Hit' size='lg' title='Compound Hit'> ^Screen^Score^ |[[:results:exp443|SNS-032 15μM R08 exp443]]|-1.93| |[[:results:exp480|ETC-159 50μM R08 exp480]]|1.7| |[[:results:exp152|SGC2043 10μM R03 exp152]]|1.9| </modal> <modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'> No correlation found to any other genes in chemogenomics. </modal> <modal id='Essential_Avana' size='lg' title='Tissues where Essential in the Avana Dataset (DepMap 20Q1)'> Global Fraction of Cell Lines Where Essential: N/A ^Tissue^Fraction Of Cell Lines Where Essential^ </modal> == Essentiality in NALM6 == * **<color #00a2e8>Essentiality Rank</color>**: 8836 * **<color #00a2e8>Expression level (log2 read counts)</color>**: -0.12 <button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button> <modal id='Dist_expr' size='lg' title='VHLL Expression in NALM6 Cells: -0.12'> {{:chemogenomics:nalm6 dist.png?nolink |}} </modal> Last modified: 2025/12/10 20:19by 127.0.0.1