Version 5.4
Homo sapiens Gene: VHLL
Summary
InnateDB Gene IDBG-103466.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol VHLL
Gene Name von Hippel-Lindau tumor suppressor-like
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000189030
Encoded Proteins
IDBP-721894
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 1:156298624-156299299
Strand Reverse strand
Band q22
Transcripts
ENST00000339922 ENSP00000464258
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
Experimentally validated
Total 2 [view]
Protein-Protein 2 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
GO:0032403 protein complex binding
Biological Process
GO:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0001525 angiogenesis
GO:0001666 response to hypoxia
GO:0006355 regulation of transcription, DNA-templated
GO:0010498 proteasomal protein catabolic process
GO:0016567 protein ubiquitination
GO:0030163 protein catabolic process
GO:0030182 neuron differentiation
GO:0030198 extracellular matrix organization
GO:0042069 regulation of catecholamine metabolic process
GO:0043534 blood vessel endothelial cell migration
GO:0045471 response to ethanol
GO:0051291 protein heterooligomerization
GO:0070243 regulation of thymocyte apoptotic process
GO:0070244 negative regulation of thymocyte apoptotic process
GO:2001233 regulation of apoptotic signaling pathway
Cellular Component
GO:0005634 nucleus
GO:0005739 mitochondrion
GO:0005829 cytosol
GO:0005929 cilium
GO:0030891 VCB complex
Orthologs
No orthologs found for this gene
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.532378
RefSeq NM_001004319
HUGO
OMIM
CCDS
HPRD 15648
IMGT
EMBL
GenPept
RNA Seq Atlas

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca