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Search results 401 to 500 out of 523 for Vhl

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Type Details Score
Publication
20059953 | J:156017
First Author: Yokoyama S
Year: 2009
Journal: Dev Cell
Title: A systems approach reveals that the myogenesis genome network is regulated by the transcriptional repressor RP58.
Volume: 17
Issue: 6
Pages: 836-48
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Publication
17967808 | J:152068
First Author: Friedel RH
Year: 2007
Journal: Brief Funct Genomic Proteomic
Title: EUCOMM--the European conditional mouse mutagenesis program.
Volume: 6
Issue: 3
Pages: 180-5
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Publication
- | J:155845
     
First Author: Wellcome Trust Sanger Institute
Year: 2010
Journal: MGI Direct Data Submission
Title: Alleles produced for the EUCOMM and EUCOMMTools projects by the Wellcome Trust Sanger Institute
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Publication
- | J:155856
       
First Author: The Gene Ontology Consortium
Year: 2014
Title: Automated transfer of experimentally-verified manual GO annotation data to mouse-rat orthologs
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Publication
- | J:342604
       
First Author: UniProt-GOA
Year: 2012
Title: Gene Ontology annotation based on UniProtKB/Swiss-Prot Subcellular Location vocabulary mapping, accompanied by conservative changes to GO terms applied by UniProt
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Publication
16141072 | J:99680
First Author: Carninci P
Year: 2005
Journal: Science
Title: The transcriptional landscape of the mammalian genome.
Volume: 309
Issue: 5740
Pages: 1559-63
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Publication
- | J:23000
       
First Author: MGD Nomenclature Committee
Year: 1995
Title: Nomenclature Committee Use
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Publication
14610273 | J:86696
First Author: Zambrowicz BP
Year: 2003
Journal: Proc Natl Acad Sci U S A
Title: Wnk1 kinase deficiency lowers blood pressure in mice: a gene-trap screen to identify potential targets for therapeutic intervention.
Volume: 100
Issue: 24
Pages: 14109-14
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Publication
- | J:293217
       
First Author: GemPharmatech
Year: 2020
Title: GemPharmatech Website.
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Publication
21677750 | J:173534
First Author: Skarnes WC
Year: 2011
Journal: Nature
Title: A conditional knockout resource for the genome-wide study of mouse gene function.
Volume: 474
Issue: 7351
Pages: 337-42
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Publication
- | J:141210
     
First Author: Mouse Genome Informatics (MGI) and National Center for Biotechnology Information (NCBI)
Year: 2008
Journal: Database Download
Title: Mouse Gene Trap Data Load from dbGSS
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Publication
- | J:326541
       
First Author: Cyagen Biosciences Inc.
Year: 2022
Title: Cyagen Biosciences Website.
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Publication
- | J:342587
       
First Author: AgBase, BHF-UCL, Parkinson's UK-UCL, dictyBase, HGNC, Roslin Institute, FlyBase and UniProtKB curators
Year: 2011
Title: Manual transfer of experimentally-verified manual GO annotation data to orthologs by curator judgment of sequence similarity
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Publication
- | J:342605
       
First Author: GOA curators
Year: 2016
Title: Automatic transfer of experimentally verified manual GO annotation data to orthologs using Ensembl Compara
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Publication
- | J:68900
     
First Author: The Jackson Laboratory Mouse Radiation Hybrid Database
Year: 2004
Journal: Database Release
Title: Mouse T31 Radiation Hybrid Data Load
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Publication
- | J:164563
       
First Author: The Gene Ontology Consortium
Year: 2010
Title: Automated transfer of experimentally-verified manual GO annotation data to mouse-human orthologs
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Publication
- | J:75000
       
First Author: Mouse Genome Informatics Scientific Curators
Year: 2002
Title: Mouse Genome Informatics Computational Sequence to Gene Associations
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Publication
- | J:157972
     
First Author: Mouse Genome Informatics Scientific Curators
Year: 2010
Journal: Database Download
Title: Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Genome U74 Array Platform (A, B, C v2).
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Publication
- | J:161428
       
First Author: Marc Feuermann, Huaiyu Mi, Pascale Gaudet, Dustin Ebert, Anushya Muruganujan, Paul Thomas
Year: 2010
Title: Annotation inferences using phylogenetic trees
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Publication
- | J:63103
     
First Author: Mouse Genome Database and National Center for Biotechnology Information
Year: 2000
Journal: Database Release
Title: Entrez Gene Load
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Publication
- | J:262123
     
First Author: Allen Institute for Brain Science
Year: 2004
Journal: Allen Institute
Title: Allen Brain Atlas: mouse riboprobes
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Publication
- | J:144086
     
First Author: Mouse Genome Informatics Scientific Curators
Year: 2009
Journal: Database Download
Title: Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Gene 1.0 ST Array Platform
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Publication
- | J:155721
     
First Author: Mouse Genome Informatics (MGI) and The National Center for Biotechnology Information (NCBI)
Year: 2010
Journal: Database Download
Title: Consensus CDS project
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Publication
- | J:85324
     
First Author: Mouse Genome Informatics Group
Year: 2003
Journal: Database Procedure
Title: Automatic Encodes (AutoE) Reference
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Publication
- | J:53168
     
First Author: Bairoch A
Year: 1999
Journal: Database Release
Title: SWISS-PROT Annotated protein sequence database
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Publication
- | J:91388
       
First Author: Mouse Genome Informatics Scientific Curators
Year: 2005
Title: Obtaining and Loading Genome Assembly Coordinates from Ensembl Annotations
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Publication
- | J:155221
     
First Author: Mouse Genome Informatics
Year: 2010
Journal: Database Release
Title: Protein Ontology Association Load.
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Publication
- | J:90438
       
First Author: Mouse Genome Informatics Scientific Curators
Year: 2005
Title: Obtaining and loading genome assembly coordinates from NCBI annotations
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Publication
- | J:144087
     
First Author: Mouse Genome Informatics Scientific Curators
Year: 2009
Journal: Database Download
Title: Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Genome 430 2.0 Array Platform
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Publication
29053101 | J:257057
   
First Author: Zhu W
Year: 2017
Journal: Elife
Title: Daam2 driven degradation of VHL promotes gliomagenesis.
Volume: 6
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Allele
Vhl<tm1Wml> | MGI:1857702
Name: von Hippel-Lindau tumor suppressor; targeted mutation 1, W Marston Linehan
Allele Type: Targeted
Attribute String: Null/knockout
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Publication
28925400 | J:254259
First Author: Tarade D
Year: 2018
Journal: Oncogene
Title: The HIF and other quandaries in VHL disease.
Volume: 37
Issue: 2
Pages: 139-147
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Gene
100361795 | Vbp1l-ps1
Type: gene
Organism: rat
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Publication
19671042 | -
First Author: Haase VH
Year: 2009
Journal: Curr Pharm Des
Title: The VHL tumor suppressor: master regulator of HIF.
Volume: 15
Issue: 33
Pages: 3895-903
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Publication
15611513 | -
First Author: Kim WY
Year: 2004
Journal: J Clin Oncol
Title: Role of VHL gene mutation in human cancer.
Volume: 22
Issue: 24
Pages: 4991-5004
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Publication
19402056 | -
First Author: Kaelin WG Jr
Year: 2009
Journal: Cancer
Title: Treatment of kidney cancer: insights provided by the VHL tumor-suppressor protein.
Volume: 115
Issue: 10 Suppl
Pages: 2262-72
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Publication
19243301 | -
First Author: Khacho M
Year: 2009
Journal: Future Oncol
Title: Subcellular dynamics of the VHL tumor suppressor: on the move for HIF degradation.
Volume: 5
Issue: 1
Pages: 85-95
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Publication
18095884 | -
First Author: Rathmell WK
Year: 2008
Journal: Expert Rev Anticancer Ther
Title: VHL inactivation in renal cell carcinoma: implications for diagnosis, prognosis and treatment.
Volume: 8
Issue: 1
Pages: 63-73
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Publication
17245122 | -
First Author: Russell RC
Year: 2007
Journal: Cell Cycle
Title: The role of VHL in the regulation of E-cadherin: a new connection in an old pathway.
Volume: 6
Issue: 1
Pages: 56-9
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Publication
19657325 | -
First Author: Clark PE
Year: 2009
Journal: Kidney Int
Title: The role of VHL in clear-cell renal cell carcinoma and its relation to targeted therapy.
Volume: 76
Issue: 9
Pages: 939-45
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Publication
10213691 | J:64811
First Author: Kamura T
Year: 1999
Journal: Science
Title: Rbx1, a component of the VHL tumor suppressor complex and SCF ubiquitin ligase.
Volume: 284
Issue: 5414
Pages: 657-61
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Publication
30026228 | J:358353
First Author: Zhang J
Year: 2018
Journal: Science
Title: VHL substrate transcription factor ZHX2 as an oncogenic driver in clear cell renal cell carcinoma.
Volume: 361
Issue: 6399
Pages: 290-295
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Publication
31375625 | J:278746
First Author: Li S
Year: 2019
Journal: Proc Natl Acad Sci U S A
Title: EglN3 hydroxylase stabilizes BIM-EL linking VHL type 2C mutations to pheochromocytoma pathogenesis and chemotherapy resistance.
Volume: 116
Issue: 34
Pages: 16997-17006
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Publication
19216840 | -
First Author: Cowey CL
Year: 2009
Journal: Curr Oncol Rep
Title: VHL gene mutations in renal cell carcinoma: role as a biomarker of disease outcome and drug efficacy.
Volume: 11
Issue: 2
Pages: 94-101
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Publication
32817424 | J:295970
First Author: Xiao Y
Year: 2020
Journal: Proc Natl Acad Sci U S A
Title: The m6A RNA demethylase FTO is a HIF-independent synthetic lethal partner with the VHL tumor suppressor.
Volume: 117
Issue: 35
Pages: 21441-21449
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Publication
32209418 | J:299459
First Author: Chakraborty AA
Year: 2020
Journal: Semin Cancer Biol
Title: Coalescing lessons from oxygen sensing, tumor metabolism, and epigenetics to target VHL loss in kidney cancer.
Volume: 67
Issue: Pt 2
Pages: 34-42
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Allele
Vhl<em2Smoc> | MGI:7293131
Name: von Hippel-Lindau tumor suppressor; endonuclease-mediated mutation 2, Shanghai Model Organisms Center
Allele Type: Endonuclease-mediated
Attribute String: Null/knockout
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GO Term
GO:0030891 | VCB complex
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Interaction Experiment
Desimone MC (2013)
Description: Pleiotropic Effects of the Trichloroethylene-Associated P81S VHL Mutation on Metabolism, Apoptosis, and ATM-Mediated DNA Damage Response.
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Allele
Vhl<tm1Mcs> | MGI:3776030
Name: von Hippel-Lindau tumor suppressor; targeted mutation 1, M Celeste Simon
Allele Type: Targeted
Attribute String: Hypomorph
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Strain
MGI:6476596 | C57BL/6JSmoc-Vhl<em2Smoc>/Smoc
Attribute String: coisogenic, endonuclease-mediated mutation, mutant strain
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Publication
17998064 | J:131755
 
First Author: Kaelin WG Jr
Year: 2007
Journal: Methods Enzymol
Title: The von hippel-lindau tumor suppressor protein: an update.
Volume: 435
Pages: 371-83
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Genotype
Genotype
Symbol: Vhl/Vhl
Background: involves: 129S4/SvJae * C57BL/6 * FVB/N
Zygosity: hm
Has Mutant Allele: true
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DO Term
DOID:0060474 | familial erythrocytosis 2
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Allele
Vhl<em1Smoc> | MGI:7293130
Name: von Hippel-Lindau tumor suppressor; endonuclease-mediated mutation 1, Shanghai Model Organisms Center
Allele Type: Endonuclease-mediated
Attribute String: Conditional ready, No functional change
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Publication
12004076 | -
First Author: Min JH
Year: 2002
Journal: Science
Title: Structure of an HIF-1alpha -pVHL complex: hydroxyproline recognition in signaling.
Volume: 296
Issue: 5574
Pages: 1886-9
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Publication
19414081 | -
First Author: Meister M
Year: 2009
Journal: Clin Radiol
Title: Radiological evaluation, management, and surveillance of renal masses in Von Hippel-Lindau disease.
Volume: 64
Issue: 6
Pages: 589-600
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Publication
19261475 | -
First Author: Hayden MG
Year: 2009
Journal: J Clin Neurosci
Title: Von Hippel-Lindau disease in pregnancy: a brief review.
Volume: 16
Issue: 5
Pages: 611-3
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Publication
17932373 | -
First Author: Walmsley SR
Year: 2008
Journal: Am J Respir Cell Mol Biol
Title: The HIF/VHL pathway: from oxygen sensing to innate immunity.
Volume: 38
Issue: 3
Pages: 251-5
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Publication
17255293 | -
First Author: Kaelin WG Jr
Year: 2007
Journal: Clin Cancer Res
Title: The von Hippel-Lindau tumor suppressor protein and clear cell renal carcinoma.
Volume: 13
Issue: 2 Pt 2
Pages: 680s-684s
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Publication
18323857 | -
First Author: Russell RC
Year: 2008
Journal: EMBO Rep
Title: NEDD8 acts as a 'molecular switch' defining the functional selectivity of VHL.
Volume: 9
Issue: 5
Pages: 486-91
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Publication
16728571 | -
First Author: Woodward ER
Year: 2006
Journal: Endocr Relat Cancer
Title: Von Hippel-Lindau disease and endocrine tumour susceptibility.
Volume: 13
Issue: 2
Pages: 415-25
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Publication
16531988 | -
First Author: Haase VH
Year: 2006
Journal: Kidney Int
Title: The VHL/HIF oxygen-sensing pathway and its relevance to kidney disease.
Volume: 69
Issue: 8
Pages: 1302-7
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Publication
16869749 | -
 
First Author: Kaelin WG
Year: 2005
Journal: Cold Spring Harb Symp Quant Biol
Title: The von Hippel-Lindau tumor suppressor protein: roles in cancer and oxygen sensing.
Volume: 70
Pages: 159-66
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Publication
23990666 | -
First Author: Desimone MC
Year: 2013
Journal: J Natl Cancer Inst
Title: Pleiotropic effects of the trichloroethylene-associated P81S VHL mutation on metabolism, apoptosis, and ATM-mediated DNA damage response.
Volume: 105
Issue: 18
Pages: 1355-64
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Publication
14973063 | -
First Author: Zhou MI
Year: 2004
Journal: Cancer Res
Title: Tumor suppressor von Hippel-Lindau (VHL) stabilization of Jade-1 protein occurs through plant homeodomains and is VHL mutation dependent.
Volume: 64
Issue: 4
Pages: 1278-86
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Strain
MGI:6429780 | C57BL/6JSmoc-Vhl<em1Smoc>/Smoc
Attribute String: coisogenic, mutant strain, endonuclease-mediated mutation
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Strain
MGI:7781389 | C57BL/6JSmoc-Vhl<em1Smoc> Bap1<tm1Smoc>/Smoc
Attribute String: endonuclease-mediated mutation, mutant stock, targeted mutation
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Strain
MGI:7781363 | C57BL/6JSmoc-Vhl<em1Smoc> Pbrm1<em1Smoc>/Smoc
Attribute String: coisogenic, mutant strain, endonuclease-mediated mutation
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Publication
10878807 | -
First Author: Ohh M
Year: 2000
Journal: Nat Cell Biol
Title: Ubiquitination of hypoxia-inducible factor requires direct binding to the beta-domain of the von Hippel-Lindau protein.
Volume: 2
Issue: 7
Pages: 423-7
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Protein Domain
IPR039049 | ELOB
Type: Family
Description: Elongin B is a subunit of the transcription factor B (SIII) complex, which activates elongation by mammalian RNA polymerase II by suppressing transient pausing of the polymerase at many sites within transcription units. Elongin is a heterotrimer composed of A, B, and C subunits. Elongin A functions as the transcriptionally active component of Elongin (SIII), while Elongin B and C are regulatory subunits [].Elongin B has been shown to form complex with Elongin C and VHL (von Hippel-Lindau, a tumour suppressor). This complex, known as the VBC complex, shows structural similarities with the SCF complex []. The VBC complex binds to hypoxia-inducible factor 1alpha (HIF-1alpha) via VHL and targets HIF-1alpha for ubiquitination [].
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HT Experiment
E-GEOD-36091 | Gene Expression profiles of colon from VhlF/F, VhldeltaIE, VhlF/F/Apcmin/+, VhldeltaIE/Apcmin/+
Series Id: GSE36091
Experiment Type: transcription profiling by array
Study Type: WT vs. Mutant
Source: ArrayExpress
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Publication
22451918 | -
First Author: Delgehyr N
Year: 2012
Journal: Proc Natl Acad Sci U S A
Title: Drosophila Mgr, a Prefoldin subunit cooperating with von Hippel Lindau to regulate tubulin stability.
Volume: 109
Issue: 15
Pages: 5729-34
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Protein Domain
IPR016655 | PFD3
Type: Family
Description: Prefoldin subunit 3 (PFD3, also known as VBP-1) is part of the heteromeric co-chaperone complex, which delivers unfolded proteins to cytosolic chaperonin and acts as a cofactor. PFD3 binds specifically to cytosolic chaperonin (c-CPN) and transfers target proteins to it. It binds to nascent polypeptide chain and promotes folding []. In fruit flies PFD3 (also known as mgr) interacts with von Hippel Lindau protein (Vhl) and betaTub56D/tubulin beta-1 chain. It is required for tubulin stability and spindle and centrosome formation in cooperation with Vhl [].
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Publication
7660129 | -
First Author: Aso T
Year: 1995
Journal: Science
Title: Elongin (SIII): a multisubunit regulator of elongation by RNA polymerase II.
Volume: 269
Issue: 5229
Pages: 1439-43
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Publication
2276737 | J:10958
First Author: Hosoe S
Year: 1990
Journal: Genomics
Title: Localization of the von Hippel-Lindau disease gene to a small region of chromosome 3.
Volume: 8
Issue: 4
Pages: 634-40
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Protein Domain
IPR024053 | VHL_beta_dom
Type: Domain
Description: von Hippel-Landau (pVHL) protein, the gene product of VHL, is a critical regulator of the ubiquitous oxygen-sensing pathway. It is conserved throughout evolution, as its homologs are found in organisms ranging from mammals to Drosophila and Caenorhabditis. pVHL acts as the substrate recognition component of an E3 ubiquitinligase complex. Several proteins have been identified as pVHL-binding proteins that are subject to ubiquitin-mediated proteolysis; the best characterized putative substrates are the alpha subunits of the hypoxia-inducible factor (HIF1alpha, HIF2alpha, and HIF3alpha). In addition to HIF degradation, pVHL has been implicated to be involved in HIF independent cellular processes. Germline VHL mutations cause renal cell carcinomas, hemangioblastomas and pheochromocytomas in humans. pVHL can bind to and direct the proper deposition of fibronectin and collagen IV within the extracellular matrix. It works to stabilize microtubules and foster the maintenance of primary cilium. It also has been reported to promote the stabilization and activation of p53 in a HIF-independent manner and, in neuronal cells, promote apoptosis by down-regulation of Jun-B [, , , , , , , , , , , , , , , , , , , ].Von Hippel-Lindau disease tumor suppressor (VHL) has two domains: a roughly 100-residue N-terminal domain rich in beta sheet (beta domain) and a smaller α-helical domain (alpha domain), held together by two linkers and a polar interface. A large portion of the alpha domain surface, and a small portion of the beta domain, interact with ElonginC. About half of the tumorigenic mutations map to the alpha domain and its residues that contact ElonginC. The remaining mutations map to the beta domain, and significantly, to a beta domain surface patch uninvolved in ElonginC binding. This suggests that two intact macromolecular binding sites may be required for the tumor suppressor effects of VHL [].This entry represents the beta domain of VHL.
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Protein Domain
IPR024048 | VHL_alpha_dom
Type: Domain
Description: von Hippel-Landau (pVHL) protein, the gene product of VHL, is a critical regulator of the ubiquitous oxygen-sensing pathway. It is conserved throughout evolution, as its homologs are found in organisms ranging from mammals to Drosophila and Caenorhabditis. pVHL acts as the substrate recognition component of an E3 ubiquitin ligase complex. Several proteins have been identified as pVHL-binding proteins that are subject to ubiquitin-mediated proteolysis; the best characterized putative substrates are the alpha subunits of the hypoxia-inducible factor (HIF1alpha, HIF2alpha, and HIF3alpha). In addition to HIF degradation, pVHL has been implicated to be involved in HIF independent cellular processes. Germline VHL mutations cause renal cell carcinomas, hemangioblastomas and pheochromocytomas in humans. pVHL can bind to and direct the proper deposition of fibronectin and collagen IV within the extracellular matrix. It works to stabilize microtubules and foster the maintenance of primary cilium. It also has been reported to promote the stabilization and activation of p53 in a HIF-independent manner and, in neuronal cells, promote apoptosis by down-regulation of Jun-B [, , , , , , , , , , , , , , , , , , , ].Von Hippel-Lindau disease tumor suppressor (VHL) has two domains: a roughly 100-residue N-terminal domain rich in beta sheet (beta domain) and a smaller α-helical domain (alpha domain), held together by two linkers and a polar interface. A large portion of the alpha domain surface, and a small portion of the beta domain, interact with ElonginC. About half of the tumorigenic mutations map to the alpha domain and its residues that contact ElonginC. The remaining mutations map to the beta domain, and significantly, to a beta domain surface patch uninvolved in ElonginC binding. This suggests that two intact macromolecular binding sites may be required for the tumor suppressor effects of VHL [].This entry represents the alpha domain of VHL.
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Protein Domain
IPR022772 | VHL_tumour_suppress_b/a_dom
Type: Domain
Description: von Hippel-Landau (pVHL) protein, the gene product of VHL, is a critical regulator of the ubiquitous oxygen-sensing pathway. It is conserved throughout evolution, as its homologs are found in organisms ranging from mammals to Drosophila and Caenorhabditis. pVHL acts as the substrate recognition component of an E3 ubiquitin ligase complex. Several proteins have been identified as pVHL-binding proteins that are subject to ubiquitin-mediated proteolysis; the best characterized putative substrates are the alpha subunits of the hypoxia-inducible factor (HIF1alpha, HIF2alpha, and HIF3alpha). In addition to HIF degradation, pVHL has been implicated to be involved in HIF independent cellular processes. Germline VHL mutations cause renal cell carcinomas, hemangioblastomas and pheochromocytomas in humans. pVHL can bind to and direct the proper deposition of fibronectin and collagen IV within the extracellular matrix. It works to stabilize microtubules and foster the maintenance of primary cilium. It also has been reported to promote the stabilization and activation of p53 in a HIF-independent manner and, in neuronal cells, promote apoptosis by down-regulation of Jun-B [, , , , , , , , , , , , , , , , , , , ].Von Hippel-Lindau disease tumor suppressor (VHL) has two domains: a roughly 100-residue N-terminal domain rich in beta sheet (beta domain) and a smaller α-helical domain (alpha domain), held together by two linkers and a polar interface. A large portion of the alpha domain surface, and a small portion of the beta domain, interact with ElonginC. About half of the tumorigenic mutations map to the alpha domain and its residues that contact ElonginC. The remaining mutations map to the beta domain, and significantly, to a beta domain surface patch uninvolved in ElonginC binding. This suggests that two intact macromolecular binding sites may be required for the tumor suppressor effects of VHL [].This entry represents both beta and alpha domains of VHL.
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Protein Domain
IPR037140 | VHL_beta_dom_sf
Type: Homologous_superfamily
Description: von Hippel-Landau (pVHL) protein, the gene product of VHL, is a critical regulator of the ubiquitous oxygen-sensing pathway. It is conserved throughout evolution, as its homologs are found in organisms ranging from mammals to Drosophila and Caenorhabditis. pVHL acts as the substrate recognition component of an E3 ubiquitin ligase complex. Several proteins have been identified as pVHL-binding proteins that are subject to ubiquitin-mediated proteolysis; the best characterized putative substrates are the alpha subunits of the hypoxia-inducible factor (HIF1alpha, HIF2alpha, and HIF3alpha). In addition to HIF degradation, pVHL has been implicated to be involved in HIF independent cellular processes. Germline VHL mutations cause renal cell carcinomas, hemangioblastomas and pheochromocytomas in humans. pVHL can bind to and direct the proper deposition of fibronectin and collagen IV within the extracellular matrix. It works to stabilize microtubules and foster the maintenance of primary cilium. It also has been reported to promote the stabilization and activation of p53 in a HIF-independent manner and, in neuronal cells, promote apoptosis by down-regulation of Jun-B [, , , , , , , , , , , , , , , , , , , ].Von Hippel-Lindau disease tumor suppressor (VHL) has two domains: a roughly 100-residue N-terminal domain rich in beta sheet (beta domain) and a smaller α-helical domain (alpha domain), held together by two linkers and a polar interface. A large portion of the alpha domain surface, and a small portion of the beta domain, interact with ElonginC. About half of the tumorigenic mutations map to the alpha domain and its residues that contact ElonginC. The remaining mutations map to the beta domain, and significantly, to a beta domain surface patch uninvolved in ElonginC binding. This suggests that two intact macromolecular binding sites may be required for the tumor suppressor effects of VHL [].This entry represents the beta domain superfamily of VHL.
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Protein Domain
IPR037139 | VHL_alpha_dom_sf
Type: Homologous_superfamily
Description: von Hippel-Landau (pVHL) protein, the gene product of VHL, is a critical regulator of the ubiquitous oxygen-sensing pathway. It is conserved throughout evolution, as its homologs are found in organisms ranging from mammals to Drosophila and Caenorhabditis. pVHL acts as the substrate recognition component of an E3 ubiquitin ligase complex. Several proteins have been identified as pVHL-binding proteins that are subject to ubiquitin-mediated proteolysis; the best characterized putative substrates are the alpha subunits of the hypoxia-inducible factor (HIF1alpha, HIF2alpha, and HIF3alpha). In addition to HIF degradation, pVHL has been implicated to be involved in HIF independent cellular processes. Germline VHL mutations cause renal cell carcinomas, hemangioblastomas and pheochromocytomas in humans. pVHL can bind to and direct the proper deposition of fibronectin and collagen IV within the extracellular matrix. It works to stabilize microtubules and foster the maintenance of primary cilium. It also has been reported to promote the stabilization and activation of p53 in a HIF-independent manner and, in neuronal cells, promote apoptosis by down-regulation of Jun-B [, , , , , , , , , , , , , , , , , , , ].Von Hippel-Lindau disease tumor suppressor (VHL) has two domains: a roughly 100-residue N-terminal domain rich in beta sheet (beta domain) and a smaller α-helical domain (alpha domain), held together by two linkers and a polar interface. A large portion of the alpha domain surface, and a small portion of the beta domain, interact with ElonginC. About half of the tumorigenic mutations map to the alpha domain and its residues that contact ElonginC. The remaining mutations map to the beta domain, and significantly, to a beta domain surface patch uninvolved in ElonginC binding. This suggests that two intact macromolecular binding sites may be required for the tumor suppressor effects of VHL [].This entry represents the alpha domain superfamily of VHL.
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HT Experiment
GSE89733 | Embryonic VHL-HIF signaling defines dynamic heart metabolic compartments essential for cardiac maturation
 
Experiment Type: RNA-Seq
Study Type: WT vs. Mutant
Source: GEO
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Protein
P62869
Organism: Mus musculus/domesticus
Length: 118  
Fragment?: false
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Protein
F8VPW8
Organism: Mus musculus/domesticus
Length: 100  
Fragment?: false
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Protein
Q9D7T5
Organism: Mus musculus/domesticus
Length: 100  
Fragment?: false
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Protein
A0A3B2WBM3
Organism: Mus musculus/domesticus
Length: 90  
Fragment?: false
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Protein
A6PWE0
Organism: Mus musculus/domesticus
Length: 161  
Fragment?: false
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Publication
38690263 | J:349453
 
First Author: Bargiela D
Year: 2024
Journal: Front Immunol
Title: The factor inhibiting HIF regulates T cell differentiation and anti-tumour efficacy.
Volume: 15
Pages: 1293723
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Publication
23054256 | J:190585
First Author: Ding M
Year: 2013
Journal: Am J Physiol Renal Physiol
Title: Regulation of hypoxia-inducible factor 2-a is essential for integrity of the glomerular barrier.
Volume: 304
Issue: 1
Pages: F120-6
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Publication
22308027 | J:183274
First Author: Paatero I
Year: 2012
Journal: J Biol Chem
Title: Interaction with ErbB4 promotes hypoxia-inducible factor-1α signaling.
Volume: 287
Issue: 13
Pages: 9659-71
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Publication
35045308 | J:327100
First Author: Evers SS
Year: 2022
Journal: Cell Rep
Title: Gut HIF2α signaling is increased after VSG, and gut activation of HIF2α decreases weight, improves glucose, and increases GLP-1 secretion.
Volume: 38
Issue: 3
Pages: 110270
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Publication
24899725 | J:211627
First Author: Parsanejad M
Year: 2014
Journal: J Neurosci
Title: Regulation of the VHL/HIF-1 pathway by DJ-1.
Volume: 34
Issue: 23
Pages: 8043-50
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Publication
1680799 | J:11487
First Author: Maher ER
Year: 1991
Journal: Genomics
Title: Mapping of the von Hippel-Lindau disease locus to a small region of chromosome 3p by genetic linkage analysis.
Volume: 10
Issue: 4
Pages: 957-60
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Publication
10449904 | J:57300
First Author: Ishida T
Year: 1999
Journal: Cytogenet Cell Genet
Title: Structure and chromosome location of human OGG1.
Volume: 85
Issue: 3-4
Pages: 232-6
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Publication
28528867 | J:242567
First Author: Zhang Y
Year: 2017
Journal: Cancer Cell
Title: A Pan-Cancer Proteogenomic Atlas of PI3K/AKT/mTOR Pathway Alterations.
Volume: 31
Issue: 6
Pages: 820-832.e3
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Publication
9630229 | J:48636
First Author: Vainberg IE
Year: 1998
Journal: Cell
Title: Prefoldin, a chaperone that delivers unfolded proteins to cytosolic chaperonin.
Volume: 93
Issue: 5
Pages: 863-73
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Publication
12056827 | J:77242
First Author: Li Z
Year: 2002
Journal: Biochem Biophys Res Commun
Title: Identification of a deubiquitinating enzyme subfamily as substrates of the von Hippel-Lindau tumor suppressor.
Volume: 294
Issue: 3
Pages: 700-9
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Publication
23001567 | J:191148
First Author: Foy RL
Year: 2012
Journal: Hum Mol Genet
Title: Polycystin-1 regulates the stability and ubiquitination of transcription factor Jade-1.
Volume: 21
Issue: 26
Pages: 5456-71
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Publication
30785802 | J:292059
First Author: Wang M
Year: 2019
Journal: FASEB J
Title: High glucose-induced ubiquitination of G6PD leads to the injury of podocytes.
Volume: 33
Issue: 5
Pages: 6296-6310
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Publication
34099651 | J:322190
First Author: Li G
Year: 2021
Journal: Nat Commun
Title: A small molecule HIF-1α stabilizer that accelerates diabetic wound healing.
Volume: 12
Issue: 1
Pages: 3363
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MouseMine is a collaboration between MGI at The Jackson Laboratory and the InterMine project at the Cambridge Systems Biology Centre. MouseMine is funded through a grant from the NIH/NHGRI.The Jackson Laboratory makes no representation about the suitability or accuracy of this software or data for any purpose, and makes no warranties, either express or implied, including merchantability and fitness for a particular purpose or that the use of this software or data will not infringe any third party patents, copyrights, trademarks, or other rights. the software and data are provided "as is". This software and data are provided to enhance knowledge and encourage progress in the scientific community and are to be used only for research and educational purposes. Any reproduction or use for commercial purpose is prohibited without the prior express written permission of the Jackson Laboratory.

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