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HUMAN:VHL
Contents
| Species (Taxon ID) | Homo sapiens (Human). (9606) | |
| Gene Name(s) | VHL | |
| Protein Name(s) | Von Hippel-Lindau disease tumor suppressor
Protein G7 pVHL | |
| External Links | ||
| UniProt | P40337 | |
| EMBL | AF010238 L15409 AK315799 AC034193 CH471055 BC058831 U54612 X96489 | |
| CCDS | CCDS2597.1 CCDS2598.1 | |
| PIR | I38926 | |
| RefSeq | NP_000542.1 NP_937799.1 | |
| UniGene | Hs.517792 | |
| PDB | 1LM8 1LQB 1VCB 3ZRC 3ZRF 3ZTC 3ZTD 3ZUN 4AJY 4AWJ 4B95 4B9K 4BKS 4BKT 4W9C 4W9D 4W9E 4W9F 4W9G 4W9H 4W9I 4W9J 4W9K 4W9L | |
| PDBsum | 1LM8 1LQB 1VCB 3ZRC 3ZRF 3ZTC 3ZTD 3ZUN 4AJY 4AWJ 4B95 4B9K 4BKS 4BKT 4W9C 4W9D 4W9E 4W9F 4W9G 4W9H 4W9I 4W9J 4W9K 4W9L | |
| DisProt | DP00287 | |
| ProteinModelPortal | P40337 | |
| SMR | P40337 | |
| BioGrid | 113269 | |
| DIP | DIP-32585N | |
| IntAct | P40337 | |
| MINT | MINT-133223 | |
| STRING | 9606.ENSP00000256474 | |
| BindingDB | P40337 | |
| ChEMBL | CHEMBL3108660 | |
| PhosphoSite | P40337 | |
| DMDM | 4033778 | |
| MaxQB | P40337 | |
| PRIDE | P40337 | |
| DNASU | 7428 | |
| Ensembl | ENST00000256474 ENST00000345392 | |
| GeneID | 7428 | |
| KEGG | hsa:7428 | |
| UCSC | uc003bvc.3 uc003bvd.3 | |
| CTD | 7428 | |
| GeneCards | GC03P010200 | |
| GeneReviews | VHL | |
| HGNC | HGNC:12687 | |
| HPA | CAB005430 HPA031631 HPA031632 | |
| MIM | 144700 171300 193300 263400 608537 | |
| neXtProt | NX_P40337 | |
| Orphanet | 238557 892 | |
| PharmGKB | PA37307 | |
| eggNOG | NOG327868 | |
| GeneTree | ENSGT00390000014353 | |
| HOGENOM | HOG000030904 | |
| HOVERGEN | HBG044781 | |
| InParanoid | P40337 | |
| KO | K03871 | |
| OMA | VGHPWMF | |
| OrthoDB | EOG7VMP7B | |
| PhylomeDB | P40337 | |
| TreeFam | TF318985 | |
| Reactome | REACT_120916 REACT_75842 | |
| UniPathway | UPA00143 | |
| ChiTaRS | VHL | |
| EvolutionaryTrace | P40337 | |
| GeneWiki | Von_Hippel%E2%80%93Lindau_tumor_suppressor | |
| GenomeRNAi | 7428 | |
| NextBio | 29090 | |
| PRO | PR:P40337 | |
| Proteomes | UP000005640 | |
| Bgee | P40337 | |
| CleanEx | HS_VHL | |
| ExpressionAtlas | P40337 | |
| Genevestigator | P40337 | |
| GO | GO:0005829 GO:0005783 GO:0045111 GO:0016020 GO:0005739 GO:0005654 GO:0005634 GO:0019899 GO:0008134 GO:0061630 GO:0004842 GO:0000902 GO:0071456 GO:0043066 GO:0008285 GO:0000122 GO:0061428 GO:0045597 GO:0045893 GO:0050821 GO:0016567 GO:0006508 GO:0061418 GO:0006355 | |
| Gene3D | 1.10.750.10 2.60.40.780 | |
| InterPro | IPR002714 IPR024048 IPR024053 IPR022772 | |
| PANTHER | PTHR15160:SF0 | |
| Pfam | PF01847 | |
| SUPFAM | SSF49468 | |
Annotations
| Qualifier | GO ID | GO term name | Reference | ECO ID | ECO term name | with/from | Aspect | Extension | Notes | Status |
|---|---|---|---|---|---|---|---|---|---|---|
|
involved_in |
GO:0008285 |
negative regulation of cell population proliferation |
ECO:0000315 |
mutant phenotype evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
|
involved_in |
GO:0010629 |
negative regulation of gene expression |
ECO:0000315 |
mutant phenotype evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
|
involved_in |
GO:0046426 |
negative regulation of receptor signaling pathway via JAK-STAT |
ECO:0000315 |
mutant phenotype evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
|
involved_in |
GO:0016567 |
protein ubiquitination |
ECO:0000314 |
direct assay evidence used in manual assertion |
P |
has_direct_input:(UniProtKB:Q16665) |
Seeded From UniProt |
complete | ||
|
enables |
GO:0061630 |
ubiquitin protein ligase activity |
ECO:0000314 |
direct assay evidence used in manual assertion |
F |
has_direct_input:(UniProtKB:Q16665) |
Seeded From UniProt |
complete | ||
|
involved_in |
GO:0006355 |
regulation of transcription, DNA-templated |
ECO:0000315 |
mutant phenotype evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
|
involved_in |
GO:0061428 |
negative regulation of transcription from RNA polymerase II promoter in response to hypoxia |
ECO:0000314 |
direct assay evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
|
involved_in |
GO:0050821 |
protein stabilization |
ECO:0000303 |
author statement without traceable support used in manual assertion |
P |
Seeded From UniProt |
complete | |||
|
involved_in |
GO:0045893 |
positive regulation of transcription, DNA-templated |
ECO:0000315 |
mutant phenotype evidence used in manual assertion |
P |
has_regulation_target:(UniProtKB:Q12893) |
Seeded From UniProt |
complete | ||
|
involved_in |
GO:0045597 |
positive regulation of cell differentiation |
ECO:0000303 |
author statement without traceable support used in manual assertion |
P |
Seeded From UniProt |
complete | |||
|
involved_in |
GO:0043066 |
negative regulation of apoptotic process |
ECO:0000303 |
author statement without traceable support used in manual assertion |
P |
Seeded From UniProt |
complete | |||
|
enables |
GO:0019899 |
enzyme binding |
ECO:0000353 |
physical interaction evidence used in manual assertion |
F |
Seeded From UniProt |
complete | |||
|
involved_in |
GO:0016567 |
protein ubiquitination |
ECO:0000315 |
mutant phenotype evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
|
enables |
GO:0008134 |
transcription factor binding |
ECO:0000353 |
physical interaction evidence used in manual assertion |
F |
Seeded From UniProt |
complete | |||
|
part_of |
GO:0005783 |
endoplasmic reticulum |
ECO:0000303 |
author statement without traceable support used in manual assertion |
C |
Seeded From UniProt |
complete | |||
|
part_of |
GO:0005739 |
mitochondrion |
ECO:0000303 |
author statement without traceable support used in manual assertion |
C |
Seeded From UniProt |
complete | |||
|
involved_in |
GO:0000902 |
cell morphogenesis |
ECO:0000303 |
author statement without traceable support used in manual assertion |
P |
Seeded From UniProt |
complete | |||
|
enables |
GO:0061630 |
ubiquitin protein ligase activity |
ECO:0000318 |
biological aspect of ancestor evidence used in manual assertion |
PANTHER:PTN000389240 |
F |
Seeded From UniProt |
complete | ||
|
part_of |
GO:0030891 |
VCB complex |
ECO:0000318 |
biological aspect of ancestor evidence used in manual assertion |
PANTHER:PTN000389240 |
C |
Seeded From UniProt |
complete | ||
|
involved_in |
GO:0016567 |
protein ubiquitination |
ECO:0000318 |
biological aspect of ancestor evidence used in manual assertion |
PANTHER:PTN000389240 |
P |
Seeded From UniProt |
complete | ||
|
part_of |
GO:0005634 |
nucleus |
ECO:0000318 |
biological aspect of ancestor evidence used in manual assertion |
MGI:MGI:103223 |
C |
Seeded From UniProt |
complete | ||
|
part_of |
GO:0005654 |
nucleoplasm |
ECO:0000314 |
direct assay evidence used in manual assertion |
C |
Seeded From UniProt |
complete | |||
|
involved_in |
GO:0008285 |
negative regulation of cell population proliferation |
ECO:0000304 |
author statement supported by traceable reference used in manual assertion |
P |
Seeded From UniProt |
complete | |||
|
enables |
GO:0008134 |
transcription factor binding |
ECO:0000304 |
author statement supported by traceable reference used in manual assertion |
F |
Seeded From UniProt |
complete | |||
|
involved_in |
GO:0006508 |
proteolysis |
ECO:0000304 |
author statement supported by traceable reference used in manual assertion |
P |
Seeded From UniProt |
complete | |||
|
part_of |
GO:0005829 |
cytosol |
PMID:7604013[11] |
ECO:0000304 |
author statement supported by traceable reference used in manual assertion |
|
C |
Seeded From UniProt |
complete | |
|
part_of |
GO:0005634 |
nucleus |
ECO:0000304 |
author statement supported by traceable reference used in manual assertion |
C |
Seeded From UniProt |
complete | |||
|
involved_in |
GO:0000122 |
negative regulation of transcription by RNA polymerase II |
ECO:0000304 |
author statement supported by traceable reference used in manual assertion |
P |
Seeded From UniProt |
complete | |||
|
involved_in |
GO:0061418 |
regulation of transcription from RNA polymerase II promoter in response to hypoxia |
Reactome:R-HSA-1234174 |
ECO:0000304 |
author statement supported by traceable reference used in manual assertion |
P |
Seeded From UniProt |
complete | ||
|
involved_in |
GO:0043687 |
post-translational protein modification |
Reactome:R-HSA-597592 |
ECO:0000304 |
author statement supported by traceable reference used in manual assertion |
P |
Seeded From UniProt |
complete | ||
|
involved_in |
GO:0016567 |
protein ubiquitination |
Reactome:R-HSA-8956106 |
ECO:0000304 |
author statement supported by traceable reference used in manual assertion |
P |
Seeded From UniProt |
complete | ||
|
part_of |
GO:0005654 |
nucleoplasm |
Reactome:R-HSA-4551721 |
ECO:0000304 |
author statement supported by traceable reference used in manual assertion |
|
C |
Seeded From UniProt |
complete | |
|
enables |
GO:0004842 |
ubiquitin-protein transferase activity |
Reactome:R-HSA-1234172 |
ECO:0000304 |
author statement supported by traceable reference used in manual assertion |
|
F |
Seeded From UniProt |
complete | |
|
part_of |
GO:0005737 |
cytoplasm |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
C |
Seeded From UniProt |
complete | |||
|
part_of |
GO:0005634 |
nucleus |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
C |
Seeded From UniProt |
complete | |||
|
part_of |
GO:0016020 |
membrane |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
C |
Seeded From UniProt |
complete | |||
|
involved_in |
GO:0016567 |
protein ubiquitination |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
UniPathway:UPA00143 |
P |
Seeded From UniProt |
complete | ||
| GO:0043433 |
negative regulation of sequence-specific DNA binding transcription factor activity |
PMID 11641274 |
ECO:0000315 |
P |
Figure 3 |
Missing: reference | ||||
Notes
References
See Help:References for how to manage references in GONUTS.
- ↑ 1.0 1.1 1.2 Kanno, H et al. (2013) The VHL tumor suppressor protein regulates tumorigenicity of U87-derived glioma stem-like cells by inhibiting the JAK/STAT signaling pathway. Int. J. Oncol. 42 881-6 PubMed GONUTS page
- ↑ 2.0 2.1 Parsanejad, M et al. (2014) Regulation of the VHL/HIF-1 pathway by DJ-1. J. Neurosci. 34 8043-50 PubMed GONUTS page
- ↑ Maina, EN et al. (2005) Identification of novel VHL target genes and relationship to hypoxic response pathways. Oncogene 24 4549-58 PubMed GONUTS page
- ↑ 4.0 4.1 4.2 Mahon, PC et al. (2001) FIH-1: a novel protein that interacts with HIF-1alpha and VHL to mediate repression of HIF-1 transcriptional activity. Genes Dev. 15 2675-86 PubMed GONUTS page
- ↑ 5.0 5.1 5.2 5.3 5.4 5.5 5.6 Zhou, MI et al. (2002) The von Hippel-Lindau tumor suppressor stabilizes novel plant homeodomain protein Jade-1. J. Biol. Chem. 277 39887-98 PubMed GONUTS page
- ↑ Ivanova, AV et al. (2008) Loss of PL6 protein expression in renal clear cell carcinomas and other VHL-deficient tumours. J. Pathol. 214 46-57 PubMed GONUTS page
- ↑ 7.0 7.1 7.2 7.3 Gaudet, P et al. (2011) Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Brief. Bioinformatics 12 449-62 PubMed GONUTS page
- ↑ Kibel, A et al. (1995) Binding of the von Hippel-Lindau tumor suppressor protein to Elongin B and C. Science 269 1444-6 PubMed GONUTS page
- ↑ 9.0 9.1 Duan, DR et al. (1995) Inhibition of transcription elongation by the VHL tumor suppressor protein. Science 269 1402-6 PubMed GONUTS page
- ↑ Maxwell, PH et al. (1999) The tumour suppressor protein VHL targets hypoxia-inducible factors for oxygen-dependent proteolysis. Nature 399 271-5 PubMed GONUTS page
- ↑ 11.0 11.1 Duan, DR et al. (1995) Characterization of the VHL tumor suppressor gene product: localization, complex formation, and the effect of natural inactivating mutations. Proc. Natl. Acad. Sci. U.S.A. 92 6459-63 PubMed GONUTS page
c
e
n
- GO:0043433 ! negative regulation of DNA-binding transcription factor activity
- GO:0008285 ! negative regulation of cell population proliferation
- GO:0000122 ! negative regulation of transcription by RNA polymerase II
- GO:0043066 ! negative regulation of apoptotic process
- GO:0046426 ! negative regulation of receptor signaling pathway via JAK-STAT
- GO:0010629 ! negative regulation of gene expression
- GO:0005654 ! nucleoplasm
- GO:0005634 ! nucleus
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