InnateDB Gene
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IDBG-103466.6
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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VHLL
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Gene Name
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von Hippel-Lindau tumor suppressor-like
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Synonyms
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Species
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Homo sapiens
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Ensembl Gene
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ENSG00000189030
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Encoded Proteins
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Protein Structure
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Useful resources
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Stemformatics
EHFPI
ImmGen
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Summary |
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]
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Type |
Protein coding
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Genomic Location
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Chromosome 1:156298624-156299299
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Strand
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Reverse strand
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Band
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q22
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Transcripts
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Number of Interactions
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This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
2
[view]
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Protein-Protein |
2
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
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Biological Process |
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Cellular Component |
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No orthologs found for this gene |
SwissProt
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TrEMBL
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UniProt Splice Variant
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Entrez Gene
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UniGene
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Hs.532378
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RefSeq
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NM_001004319
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HUGO
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OMIM
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CCDS
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HPRD |
15648
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IMGT
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EMBL
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GenPept
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RNA Seq Atlas
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