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| General information | Expression | Regulation | Mutation | Interaction |
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Basic Information |
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Gene ID | 7428 |
Name | VHL |
Synonym | HRCA1|RCA1|VHL1;von Hippel-Lindau tumor suppressor;VHL;von Hippel-Lindau tumor suppressor |
Definition | elongin binding protein|pVHL|protein G7|von Hippel-Lindau disease tumor suppressor |
Position | 3p25.3 |
Gene Type | protein-coding |
Source | Count: 4; Pubmed_search,TAG,Generif,UniProt |
Literature support | Count: 101 PubMed records as below. |
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Evidence Status |
Description |
reviewed | Improved detection of germline mutations in the von Hippel-Lindau disease tumor suppressor gene. |
reviewed | "A second major native von Hippel-Lindau gene product, initiated from an internal translation start site, functions as a tumor suppressor." |
reviewed | The von Hippel-Lindau tumor suppressor protein is required for proper assembly of an extracellular fibronectin matrix. |
reviewed | The von Hippel-Lindau tumor suppressor gene product interacts with Sp1 to repress vascular endothelial growth factor promoter activity. |
reviewed | Isolation and characterization of the full-length 3' untranslated region of the human von Hippel-Lindau tumor suppressor gene. |
reviewed | Nuclear/cytoplasmic localization of the von Hippel-Lindau tumor suppressor gene product is determined by cell density. |
reviewed | Identification of a novel protein (VBP-1) binding to the von Hippel-Lindau (VHL) tumor suppressor gene product. |
reviewed | Identification of the von Hippel-Lindau disease tumor suppressor gene. |
reviewed | Molecular analysis of the von Hippel-Lindau disease tumor suppressor gene in human lung cancer cell lines. |
reviewed | Somatic mutations of the von Hippel-Lindau tumor suppressor gene in sporadic central nervous system hemangioblastomas. |
| More detail of all 101 literatures about VHL | |
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Pathways and Diseases |
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Pathway | Signaling events mediated by VEGFR1 and VEGFR2;PID Curated;200161 |
Pathway | Hypoxia response via HIF activation;PANTHER;P00030 |
Pathway | Ubiquitin mediated proteolysis;KEGG PATHWAY;hsa04120 |
Pathway | hypoxia-inducible factor in the cardivascular system;PID BioCarta;100145 |
Pathway | vegf hypoxia and angiogenesis;PID BioCarta;100006 |
Pathway | Hypoxic and oxygen homeostasis regulation of HIF-1-alpha;PID Curated;200122 |
Pathway | HIF-2-alpha transcription factor network;PID Curated;200030 |
Pathway | Pathways in cancer;KEGG PATHWAY;hsa05200 |
Pathway | Renal cell carcinoma;KEGG PATHWAY;hsa05211 |
Disease | Ischemia;FunDO |
Disease | Hematologic diseases;KEGG DISEASE |
Disease | Polycythemia, benign familial;OMIM |
Disease | non-papillary renal cell carcinomas;GAD |
Disease | Congenital polycythemia;KEGG DISEASE;H00236 |
Disease | Hemangioblastoma, cerebellar, somatic;OMIM |
Disease | retinal hemangioblastomas;GAD |
Disease | Renal cell carcinoma, somatic;OMIM |
Disease | Cancer;FunDO |
Disease | Oral cancer;FunDO |
Disease | Circulatory system diseases;KEGG DISEASE |
Disease | VISION;GAD |
Disease | von Hippel-Lindau syndrome;OMIM |
Disease | Pheochromocytoma;OMIM |
Disease | Vascular disease;FunDO |
Disease | Epilepsy;FunDO |
Disease | von Hippel-Lindau syndrome (VHL).;GAD |
Disease | CANCER;GAD |
Disease | Rabies;FunDO |
Disease | Polycythemia;FunDO |
Disease | renal cancer;GAD |
Disease | Renal cell carcinoma;KEGG DISEASE;H00021 |
Disease | Cancers;KEGG DISEASE |
Disease | Cancers of the urinary system and male genital organs;KEGG DISEASE |
Disease | renal cell carcinoma;GAD |
Disease | germline mutations;GAD |
Disease | von Hippel-Lindau type 2A;GAD |
Disease | Congenital abnormality;FunDO |
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External Links |
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Links to Entrez Gene | 7428 |
Links to all GeneRIF Items | 7428 |
Links to iHOP | 7428 |
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Sequence Information |
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Nucleotide Sequence |
>7428 : length: 642 atgccccggagggcggagaactgggacgaggccgaggtaggcgcggaggaggcaggcgtc gaagagtacggccctgaagaagacggcggggaggagtcgggcgccgaggagtccggcccg gaagagtccggcccggaggaactgggcgccgaggaggagatggaggccgggcggccgcgg cccgtgctgcgctcggtgaactcgcgcgagccctcccaggtcatcttctgcaatcgcagt ccgcgcgtcgtgctgcccgtatggctcaacttcgacggcgagccgcagccctacccaacg ctgccgcctggcacgggccgccgcatccacagctaccgaggtcacctttggctcttcaga gatgcagggacacacgatgggcttctggttaaccaaactgaattatttgtgccatctctc aatgttgacggacagcctatttttgccaatatcacactgccagtgtatactctgaaagag cgatgcctccaggttgtccggagcctagtcaagcctgagaattacaggagactggacatc gtcaggtcgctctacgaagatctggaagaccacccaaatgtgcagaaagacctggagcgg ctgacacaggagcgcattgcacatcaacggatgggagattga |
Protein Sequence |
>7428 : length: 213 MPRRAENWDEAEVGAEEAGVEEYGPEEDGGEESGAEESGPEESGPEELGAEEEMEAGRPR PVLRSVNSREPSQVIFCNRSPRVVLPVWLNFDGEPQPYPTLPPGTGRRIHSYRGHLWLFR DAGTHDGLLVNQTELFVPSLNVDGQPIFANITLPVYTLKERCLQVVRSLVKPENYRRLDI VRSLYEDLEDHPNVQKDLERLTQERIAHQRMGD |