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"metadata": {
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"integrated": "IPR022772",
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"name": {
"name": "von Hippel-Landau (pVHL) tumor suppressor protein",
"short": "pVHL"
},
"description": [
{
"text": "<p>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 the Drosophila melanogaster, Anopheles gambiae insects and the Caenorhabditis elegans nematode. 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. [[cite:PUB00079586], [cite:PUB00079587], [cite:PUB00079588], [cite:PUB00079589], [cite:PUB00079591], [cite:PUB00079592], [cite:PUB00079593], [cite:PUB00079594], [cite:PUB00005233], [cite:PUB00027102], [cite:PUB00022097], [cite:PUB00079595], [cite:PUB00079596], [cite:PUB00079597], [cite:PUB00079598], [cite:PUB00079599], [cite:PUB00079600], [cite:PUB00079601], [cite:PUB00079602], [cite:PUB00079603]]</p>",
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"PUB00005233": {
"PMID": 10205047,
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"volume": "284",
"issue": "5413",
"year": 1999,
"title": "Structure of the VHL-ElonginC-ElonginB complex: implications for VHL tumor suppressor function.",
"URL": null,
"raw_pages": "455-61",
"medline_journal": "Science",
"ISO_journal": "Science",
"authors": [
"Stebbins CE",
"Kaelin WG Jr",
"Pavletich NP."
],
"DOI_URL": "http://dx.doi.org/10.1126/science.284.5413.455"
},
"PUB00079597": {
"PMID": 17932373,
"ISBN": null,
"volume": "38",
"issue": "3",
"year": 2008,
"title": "The HIF/VHL pathway: from oxygen sensing to innate immunity.",
"URL": null,
"raw_pages": "251-5",
"medline_journal": "Am J Respir Cell Mol Biol",
"ISO_journal": "Am. J. Respir. Cell Mol. Biol.",
"authors": [
"Walmsley SR",
"McGovern NN",
"Whyte MK",
"Chilvers ER."
],
"DOI_URL": "http://dx.doi.org/10.1165/rcmb.2007-0331TR"
},
"PUB00079586": {
"PMID": 17998064,
"ISBN": null,
"volume": "435",
"issue": null,
"year": 2007,
"title": "The von hippel-lindau tumor suppressor protein: an update.",
"URL": null,
"raw_pages": "371-83",
"medline_journal": "Methods Enzymol",
"ISO_journal": "Meth. Enzymol.",
"authors": [
"Kaelin WG Jr."
],
"DOI_URL": "http://dx.doi.org/10.1016/S0076-6879(07)35019-2"
},
"PUB00079595": {
"PMID": 15611513,
"ISBN": null,
"volume": "22",
"issue": "24",
"year": 2004,
"title": "Role of VHL gene mutation in human cancer.",
"URL": null,
"raw_pages": "4991-5004",
"medline_journal": "J Clin Oncol",
"ISO_journal": "J. Clin. Oncol.",
"authors": [
"Kim WY",
"Kaelin WG."
],
"DOI_URL": "http://dx.doi.org/10.1200/JCO.2004.05.061"
},
"PUB00079592": {
"PMID": 19261475,
"ISBN": null,
"volume": "16",
"issue": "5",
"year": 2009,
"title": "Von Hippel-Lindau disease in pregnancy: a brief review.",
"URL": null,
"raw_pages": "611-3",
"medline_journal": "J Clin Neurosci",
"ISO_journal": "J Clin Neurosci",
"authors": [
"Hayden MG",
"Gephart R",
"Kalanithi P",
"Chou D."
],
"DOI_URL": "http://dx.doi.org/10.1016/j.jocn.2008.05.032"
},
"PUB00079594": {
"PMID": 19216840,
"ISBN": null,
"volume": "11",
"issue": "2",
"year": 2009,
"title": "VHL gene mutations in renal cell carcinoma: role as a biomarker of disease outcome and drug efficacy.",
"URL": null,
"raw_pages": "94-101",
"medline_journal": "Curr Oncol Rep",
"ISO_journal": "Curr Oncol Rep",
"authors": [
"Cowey CL",
"Rathmell WK."
],
"DOI_URL": "http://dx.doi.org/10.1007/s11912-009-0015-5"
},
"PUB00079601": {
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"volume": "13",
"issue": "2",
"year": 2006,
"title": "Von Hippel-Lindau disease and endocrine tumour susceptibility.",
"URL": null,
"raw_pages": "415-25",
"medline_journal": "Endocr Relat Cancer",
"ISO_journal": "Endocr. Relat. Cancer",
"authors": [
"Woodward ER",
"Maher ER."
],
"DOI_URL": "http://dx.doi.org/10.1677/erc.1.00683"
},
"PUB00079593": {
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"volume": "5",
"issue": "1",
"year": 2009,
"title": "Subcellular dynamics of the VHL tumor suppressor: on the move for HIF degradation.",
"URL": null,
"raw_pages": "85-95",
"medline_journal": "Future Oncol",
"ISO_journal": "Future Oncol",
"authors": [
"Khacho M",
"Lee S."
],
"DOI_URL": "http://dx.doi.org/10.2217/14796694.5.1.85"
},
"PUB00022097": {
"PMID": 12004076,
"ISBN": null,
"volume": "296",
"issue": "5574",
"year": 2002,
"title": "Structure of an HIF-1alpha -pVHL complex: hydroxyproline recognition in signaling.",
"URL": null,
"raw_pages": "1886-9",
"medline_journal": "Science",
"ISO_journal": "Science",
"authors": [
"Min JH",
"Yang H",
"Ivan M",
"Gertler F",
"Kaelin WG Jr",
"Pavletich NP."
],
"DOI_URL": "http://dx.doi.org/10.1126/science.1073440"
},
"PUB00079591": {
"PMID": 19402056,
"ISBN": null,
"volume": "115",
"issue": "10 Suppl",
"year": 2009,
"title": "Treatment of kidney cancer: insights provided by the VHL tumor-suppressor protein.",
"URL": null,
"raw_pages": "2262-72",
"medline_journal": "Cancer",
"ISO_journal": "Cancer",
"authors": [
"Kaelin WG Jr."
],
"DOI_URL": "http://dx.doi.org/10.1002/cncr.24232"
},
"PUB00079603": {
"PMID": 16869749,
"ISBN": null,
"volume": "70",
"issue": null,
"year": 2005,
"title": "The von Hippel-Lindau tumor suppressor protein: roles in cancer and oxygen sensing.",
"URL": null,
"raw_pages": "159-66",
"medline_journal": "Cold Spring Harb Symp Quant Biol",
"ISO_journal": "Cold Spring Harb. Symp. Quant. Biol.",
"authors": [
"Kaelin WG."
],
"DOI_URL": "http://dx.doi.org/10.1101/sqb.2005.70.001"
},
"PUB00027102": {
"PMID": 12050673,
"ISBN": null,
"volume": "417",
"issue": "6892",
"year": 2002,
"title": "Structural basis for the recognition of hydroxyproline in HIF-1 alpha by pVHL.",
"URL": null,
"raw_pages": "975-8",
"medline_journal": "Nature",
"ISO_journal": "Nature",
"authors": [
"Hon WC",
"Wilson MI",
"Harlos K",
"Claridge TD",
"Schofield CJ",
"Pugh CW",
"Maxwell PH",
"Ratcliffe PJ",
"Stuart DI",
"Jones EY."
],
"DOI_URL": "http://dx.doi.org/10.1038/nature00767"
},
"PUB00079600": {
"PMID": 18323857,
"ISBN": null,
"volume": "9",
"issue": "5",
"year": 2008,
"title": "NEDD8 acts as a 'molecular switch' defining the functional selectivity of VHL.",
"URL": null,
"raw_pages": "486-91",
"medline_journal": "EMBO Rep",
"ISO_journal": "EMBO Rep.",
"authors": [
"Russell RC",
"Ohh M."
],
"DOI_URL": "http://dx.doi.org/10.1038/embor.2008.19"
},
"PUB00079602": {
"PMID": 16531988,
"ISBN": null,
"volume": "69",
"issue": "8",
"year": 2006,
"title": "The VHL/HIF oxygen-sensing pathway and its relevance to kidney disease.",
"URL": null,
"raw_pages": "1302-7",
"medline_journal": "Kidney Int",
"ISO_journal": "Kidney Int.",
"authors": [
"Haase VH."
],
"DOI_URL": "http://dx.doi.org/10.1038/sj.ki.5000221"
},
"PUB00079596": {
"PMID": 18095884,
"ISBN": null,
"volume": "8",
"issue": "1",
"year": 2008,
"title": "VHL inactivation in renal cell carcinoma: implications for diagnosis, prognosis and treatment.",
"URL": null,
"raw_pages": "63-73",
"medline_journal": "Expert Rev Anticancer Ther",
"ISO_journal": "Expert Rev Anticancer Ther",
"authors": [
"Rathmell WK",
"Chen S."
],
"DOI_URL": "http://dx.doi.org/10.1586/14737140.8.1.63"
},
"PUB00079587": {
"PMID": 19671042,
"ISBN": null,
"volume": "15",
"issue": "33",
"year": 2009,
"title": "The VHL tumor suppressor: master regulator of HIF.",
"URL": null,
"raw_pages": "3895-903",
"medline_journal": "Curr Pharm Des",
"ISO_journal": "Curr. Pharm. Des.",
"authors": [
"Haase VH."
],
"DOI_URL": "http://dx.doi.org/10.2174/138161209789649394"
},
"PUB00079588": {
"PMID": 19657325,
"ISBN": null,
"volume": "76",
"issue": "9",
"year": 2009,
"title": "The role of VHL in clear-cell renal cell carcinoma and its relation to targeted therapy.",
"URL": null,
"raw_pages": "939-45",
"medline_journal": "Kidney Int",
"ISO_journal": "Kidney Int.",
"authors": [
"Clark PE."
],
"DOI_URL": "http://dx.doi.org/10.1038/ki.2009.296"
},
"PUB00079589": {
"PMID": 19414081,
"ISBN": null,
"volume": "64",
"issue": "6",
"year": 2009,
"title": "Radiological evaluation, management, and surveillance of renal masses in Von Hippel-Lindau disease.",
"URL": null,
"raw_pages": "589-600",
"medline_journal": "Clin Radiol",
"ISO_journal": "Clin Radiol",
"authors": [
"Meister M",
"Choyke P",
"Anderson C",
"Patel U."
],
"DOI_URL": "http://dx.doi.org/10.1016/j.crad.2008.10.010"
},
"PUB00079599": {
"PMID": 17245122,
"ISBN": null,
"volume": "6",
"issue": "1",
"year": 2007,
"title": "The role of VHL in the regulation of E-cadherin: a new connection in an old pathway.",
"URL": null,
"raw_pages": "56-9",
"medline_journal": "Cell Cycle",
"ISO_journal": "Cell Cycle",
"authors": [
"Russell RC",
"Ohh M."
],
"DOI_URL": "http://dx.doi.org/10.4161/cc.6.1.3668"
},
"PUB00079598": {
"PMID": 17255293,
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"volume": "13",
"issue": "2 Pt 2",
"year": 2007,
"title": "The von Hippel-Lindau tumor suppressor protein and clear cell renal carcinoma.",
"URL": null,
"raw_pages": "680s-684s",
"medline_journal": "Clin Cancer Res",
"ISO_journal": "Clin. Cancer Res.",
"authors": [
"Kaelin WG Jr."
],
"DOI_URL": "http://dx.doi.org/10.1158/1078-0432.CCR-06-1865"
}
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"accession": "6hr2",
"name": "Crystal structure of PROTAC 2 in complex with the bromodomain of human SMARCA4 and pVHL:ElonginC:ElonginB"
}
}
}
