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General Information
| Gene_Symbol | Gene_ID | Gene_Name | Chromosome | Alias |
|---|---|---|---|---|
| VHL | 7428 | von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase | 3 | VHL1 |
- Evidence
- Gene
- mRNA
- CDS
- Protein
- PTM
- Enzyme
- PPi
- Pathway
- Structural
- Domain
- Ontology
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- External Links
Evidence Information
| Pubmed ID | Year | Sample Information | Techniques | Mechanism | Fold Change | Remark |
|---|---|---|---|---|---|---|
| 19540709 | 2009 | Cell line : - Source : - Sample Type : CRC Tumor and normal tissue No. of Sample : 55 Stage : - | Tissue microarray,Immunohistochemistry | Up-regulation | - | Positive correlations were observed between Hif-1alpha and Vegf (p<0.001), and Hif-1alpha and VHL (p<0.001) in primary CRC |
Gene Details
| Gene Type | protein coding |
|---|---|
| Gene Family | - |
| Description | 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] |
| Chromosome | 3 |
| Location | 3p25.3 |
| Start | 10183319 |
| End | 10195354 |
| Strand | + |
| Gene Sequence | Download Select all |
| Length | 12036 |
| OMIM ID | 608537 |
| HGNC ID | HGNC:12687 |
| Unigene ID | Hs.517792 |
| Ensembl ID | ENSG00000134086 |
| PharmGKB ID | PA37307 |
mRNA Information
| mRNA ID | ?NM_000551.3 |
|---|---|
| Exon | join(1..553,4880..5002,8153..12036) | mRNA Sequence | Download Select all |
| Length | 4560 |
Protein Information
| Protein ID | NP_000542.1 |
|---|---|
| Protein Name | von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase |
| Molecular Wt. (Da) | 22011 |
| Protein Sequence | Download Select all |
| Length | 213 |
| Uniprot ID | P43657 |
| Ensembl Protein ID | ENSP00000344353 |
Post-translational Modification Information (Source : HPRD)
No matching records could be found.
Enzyme Information
No matching records could be found.
PPi Information
(Click to view network : Source STRING) View
| Interactant Gene ID (Source: HPRD) | Gene Symbol | HPRD ID | Ref Seq ID | Technique | References |
|---|---|---|---|---|---|
| 2335 | FN1 | 626 | NP_997647.1 | in vitro;in vivo | 9651579 |
| 3164 | NR4A1 | 744 | NP_002126.2 | in vivo | 18305400 |
| 4929 | NR4A2 | 3493 | NP_006177.1 | in vivo | 18305400 |
| 5436 | POLR2G | 15995 | NP_002687.1 | in vitro;in vivo;yeast 2-hybrid | 12912922 |
| 5702 | PSMC3 | 1733 | NP_002795.2 | in vivo | 14556007 |
| 8013 | NR4A3 | 2766 | NP_775292.1 | in vivo | 18305400 |
| 10168 | ZNF197 | 10322 | NP_008922.1 | in vitro;in vivo | 12682018 |
Pathway Information
| Pathway Name | Pathway ID |
|---|---|
| HIF-1 signaling pathway | hsa04066 |
| Pathways in cancer | hsa05200 |
| Renal cell carcinoma | hsa05211 |
| Ubiquitin mediated proteolysis | hsa04120 |
Structure Information
No matching records could be found.
Domain Information
| ID | Location | Description |
|---|---|---|
| cd05468 | 64-203 | pVHL |
| cl03381 | 64-203 | pVHL superfamily |
| pfam01847 | 58-213 | VHL |
| pfam05887 | Jul-86 | Trypan_PARP |
Ontology Information
| HPRD ID | 4895 |
|---|---|
| Molecular Class | Ubiquitin proteasome system protein |
| Molecular Function | Growth factor activity (GO:0008083) |
| Biological Process | Cell communication (GO:0007154); Signal transduction (GO:0007165) |
Drug Information
No matching records could be found.