Bos taurus Gene: BT.79817 | |||||||||||||||||||||||||
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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
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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] |
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Gene Information | |||||||||||||||||||||||||
Type | Protein coding | ||||||||||||||||||||||||
Genomic Location | Chromosome 22:16760055-16764930 | ||||||||||||||||||||||||
Strand | Reverse strand | ||||||||||||||||||||||||
Band | |||||||||||||||||||||||||
Transcripts |
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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.
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Gene Ontology | |||||||||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Orthologs | |||||||||||||||||||||||||
Species
Homo sapiens
Mus musculus
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Gene ID
Gene Order
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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
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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
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INOH | |||||||||||||||||||||||||
PID NCI |
HIF-2-alpha transcription factor network
Hypoxic and oxygen homeostasis regulation of HIF-1-alpha
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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 | ||||||||||||||||||||||||