Bos taurus Gene: BT.79817
Summary
InnateDB Gene IDBG-644624.3
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol BT.79817
Gene Name von Hippel-Lindau disease tumor suppressor
Synonyms
Species Bos taurus
Ensembl Gene ENSBTAG00000016101
Encoded Proteins
von Hippel-Lindau disease tumor suppressor
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000134086:
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, and possesses ubiquitin ligase E3 activity. This 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. RNA polymerase II subunit POLR2G/RPB7 is also reported to be a target of this protein. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 22:16760055-16764930
Strand Reverse strand
Band
Transcripts
ENSBTAT00000030804 ENSBTAP00000030774
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
They are also associated with 340 interaction(s) predicted by orthology.
Predicted by orthology
Total 340 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
GO:0008134 transcription factor binding
GO:0019899 enzyme binding
GO:0032403 protein complex binding
Biological Process
GO:0001525 angiogenesis
GO:0006355 regulation of transcription, DNA-templated
GO:0010498 proteasomal protein catabolic process
GO:0016567 protein ubiquitination
GO:0030163 protein catabolic process
GO:0030198 extracellular matrix organization
GO:0043534 blood vessel endothelial cell migration
GO:0045893 positive regulation of transcription, DNA-templated
GO:0061428 negative regulation of transcription from RNA polymerase II promoter in response to hypoxia
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:0005929 cilium
GO:0045111 intermediate filament cytoskeleton
Orthologs
Species
Homo sapiens
Mus musculus
Gene ID
Gene Order
Pathway Predictions based on Human Orthology Data
NETPATH
REACTOME
Antigen processing: Ubiquitination & Proteasome degradation pathway
Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha pathway
Cellular responses to stress pathway
Adaptive Immune System pathway
Regulation of Hypoxia-inducible Factor (HIF) by oxygen pathway
Immune System pathway
Cellular response to hypoxia pathway
Class I MHC mediated antigen processing & presentation pathway
Class I MHC mediated antigen processing & presentation pathway
Cellular responses to stress pathway
Cellular response to hypoxia pathway
Immune System pathway
Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha pathway
Regulation of Hypoxia-inducible Factor (HIF) by oxygen pathway
Antigen processing: Ubiquitination & Proteasome degradation pathway
Adaptive Immune System pathway
KEGG
Renal cell carcinoma pathway
Ubiquitin mediated proteolysis pathway
Pathways in cancer pathway
Renal cell carcinoma pathway
Ubiquitin mediated proteolysis pathway
Pathways in cancer pathway
INOH
PID NCI
HIF-2-alpha transcription factor network
Hypoxic and oxygen homeostasis regulation of HIF-1-alpha
Cross-References
SwissProt
TrEMBL E1BL53
UniProt Splice Variant
Entrez Gene 540957
UniGene Bt.79817
RefSeq NM_001110019
HUGO
OMIM
CCDS
HPRD
IMGT
EMBL DAAA02053753
GenPept
RNA Seq Atlas 540957