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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for VHL (Homo sapiens) (Information is obtained from NCBI Gene database)

Entrez gene ID 7428 Official gene symbol VHL Full name von Hippel-Lindau tumor suppressor Aliases ,HRCA1,RCA1,VHL1, Gene summary 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] Location Chromosome: 3   Locus: 3p26-p25 Gene position 10183319 - 10193762  Map Viewer Gene orientation plus Gene size 10444 bp Gene sequence >VHL:10123319..10133762:Length=10444 CCTCGCCTCCGTTACAACGGCCTACGGTGCTGGAGGATCCTTCTGCGCACGCGCACAGCC TCCGGCCGGCTATTTCCGCGAGCGCGTTCCATCCTCTACCGAGCGCGCGCGAAGACTACG GAGGTCGACTCGGGAGCGCGCACGCAGCTCCGCCCCGCGTCCGACCCGCGGATCCCGCGG CGTCCGGCCCGGGTGGTCTGGATCGCGGAGGGAATGCCCCGGAGGGCGGAGAACTGGGAC GAGGCCGAGGTAGGCGCGGAGGAGGCAGGCGTCGAAGAGTACGGCCCTGAAGAAGACGGC GGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGC GCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGC GAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTC AACTTCGACGGCGAGCCGCAGCCCTACCCAACGCTGCCGCCTGGCACGGGCCGCCGCATC CACAGCTACCGAGGTACGGGCCCGGCGCTTAGGCCCGACCCAGCAGGGACGATAGCACGG TCTGAAGCCCCTCTACCGCCCCGGGGTCCATTTTGCAGACGGGGAACTGAGGCCCCTTGA GGCAGGACACATCCAGGGTGACGCTGCTCGTAAGCGTCAGAGCATTCTTTTTTTTTTTTT TTTTTTTCTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTC GACTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGT AGCTGGGATTACAGGCGTGCGCCACCGCGCCCGGCTGATTTTTATATTTTTAGTAGAGAC GGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTGCTGACCTCGTGATCCGCCCGCCT CGGCCTCCCAAAGTGCTGGGCTTATGGGCATGAGCCTCCGCGCCCGGCCCAGAGCATTCT TTATAAGGCCGAATAGTTTGCATTTGAAGGTGGCTCCCCCCAGTCCCCCACCCCACGTGT ATTTTCCCCTCAAAGAAAAGCTGCATCCTTAACACCCCATCTGTTCAGTCCTCATGACTC CAGTGGGCCAGTTCTGCGTAGTCCCTGCCCTCGTGGAGAACACATTCCTCCTGGGGAGAC TGACAGATGCAAAGACAGGAACAAGCCAGGGTCATGTTGGCGCCGGAAGAGCCGACCGTG TGTGGCGTGGGAAATTGACTTACCTGCCTGCTGGGAGATGGAGGGGTTGCGGTTGTGTGG TTTCAGTTAAGGAGCACTTCCCGGAGAAGGAAGAGAGCAGGATGGAGTAGGAACTAGCCA ACCCTAGGTAAGAGGTTCTAGACATGCGTGCGTTGAGACCTGGAGTCTTGGGAGAGGATG CTTAAAAGGTGATTTTACCCCTAGGAATATGGGGGCACTGAAATTTTTTTTTTTTTTTGA GACGGGAGTCTTGCTCTGCAAGCTGGAGTGCAGTGGCCCACGCTAGAATGCAGTGGCGCG ATTGCGGCTCATTGCAACATCTGCCACCTGGGGTCAAGTGGTTCTCTTGCCTCAGCCTCC CGAGGAGCGGGGATTACAGGCGTGCGCCACCACTCCTGGCTAATTTTTTTTTTAGTAGAG ACGGGGGTTTCGTCATTTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGATGATCCACC CGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGTGTAAGCCACTGCGCCCAGCCCTTTGA AAGTTTTTCAGTATTTATGTATATATATTTTTGAGTTGGAGTCTGGATCTGTCGCCAGAC TGGAGTGCTGTTGCACAATCTTGGCTCACTGCAATCTCCGACTCCCTGGTTCAAGCGATT CTCCTGCCTCAGCCTCCCAAGTAACTGGGATTACAGGCACGCACTACCATTCCCAGCTAA TTTTTTGTATTCTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTC CTGCGCTCGTGATCTGCCTGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCTGGG ATTTCGGCCACAACGTCCGACCGAAAGTTTTTAAGCAGGGACATGACATTGTCAGATTTA TATACTGAAAAGCTCACCCAGGTTGCCAAGTGGTTTGGAGGGGAAAGACTGCTGTCGAGG AAGCAGTTAGGTAGTTGTGAAAACCCAGGTGAGGAATAACTAGGCCTTACCTAAGGTGCA GGCAGTAATCTTGCCATGGCCTTTAAGCAGAGAAGTAGTCCTAGTGTCACTTAATCTTTA CAAAGGATTTTTGCAAGGATCCCGATCTTTCTTCCTTGAGGGTGGTGTACTTAATACACT TTTACACCAGACTTCTAATGTTAGATGAAGAACACAGTATTTCCAGGGATCAACATTTCT GTAGGCTCCTATTTTATATAGGAAATTGTATGAATTTTGTATTTTACTCCAAAATTTTTC TGTGCCCGATTTAATATAAAAATTTACTGAGCCTGGGTGCAGTGGCTCATGCCTGTGATC TCAGCACTTTGGGAGGCTGAGGCAGGAGGATTTCTTGAGCCCAGGAGCTGGAGACCAGCC TGTGCAACATAGTGAGACCCTGTCTGTATTTAAAAAAAAAAAAAATTCTTGAAAAATTAG CAGGGCACATTCCTGCCTTTAGTCCCAGCTACTTGGGAAGCTGAGGCAGGAAGATCACCC GAACCCAGGAGTTGGAGGCTACAGTGAACTATGATGGTGCCTCTGAATAGTTGCTGTACT CTAGTCTGGTAACACAGCAAGACCCTGTCTCTCTATCTTGTCTTTTTTTTTTTTTTTTTT GAGACAGGATGTCCTGCTGTTGCCTGGGCTGGAGTGTGGAGGCTGGAGTTTGGTGGCATG ATCACGGCTCATTGCACCCTTAACCTGGGCTCAAGCAGTCCTCCCAGAGCTTCAGCTTCC CAAAGTAGCTGGGACTATAGGCATGCTCCACTATGTCTGGCTAATTTCTTTTTTTATTTT TATTTTTAGTAGAGATGAGGTCTTGCTATGTTGCCCAGGCTGAGACCTCATCTCTTTTTT ATTTTTTTAAAATTTTTTATTATACTTTAAGTTCTAGGGTACATGTGCACAACGTGCAGG TTTGTTACATATGTATACATGTGCCATGTTGGTGTGCTGCACCCATAGAGACCTCGTCTT AAAAAAAGAAAATAACATTACTTTTGAAGGTACTTAATGCACTGAATTGTACATTTAAAA ATGGTTAAAATGGTAAATGTTTGAGGCAGGTAGATCCACCTGAGGTCAGGAGTTCAAGAC CAGCCTGACCAATATGGTGGAACCCTGTCTCTGCTAAAAATACAAAAGTTAGCTGCATGT GGTGGCATGCGCCTGTTTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGA ACCTGGGAGGCGGAGGTGGCAGTGAGCCAAGATCACACCACTACACTCCAGCCTGGGCAA CAGAGCAAGACTCCATCTCTAAATAATAAATAAAATGGTAACTTTTATGTATATTTTACC AAAATTTAAAAAATTACAAGTTTACATTTCTTAAAATTTCCCATCAAATCTGTAAGTAAA TTTATGCCCCGAGGAACAAGTGCTATATTTATTCTAAGACAACCTCCTCCTTCCTTAAAC AGAATCTTAGGGCTGGAGGATTGCTTCCTGCCCTCTTTTGTTTGTGATGTATGCATTTTG AAAATTCTGGGCCAGGCGCAGTGGCTCACTCCTGTAATCCCAGCACTTTGGGAGGCCGAG GCGGGCGGATCATAAGATCAGGAGATTGAGACCATCCTGGCTAATACGGTGAAACCCTGT CTCTACTGAAAATAACAAAAAATTAGCCGGGCGTGGTGGCGGGCACCTGTGGTCCCAGCT ATTTGGGAGGCTGTGGCAGGAGAATGGCATAAACCTGGGAGGCGGAGCTTGCAGTGAGCC GAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTGCATCTCAAAAAAAAA AAAAAGAAAAAGAAAAGAAAATTCTGGTATAATTTACATACAGTAAAATGCACAGATCTT AGGGTTTGATGAGTTTTCTCTCGACATGTTTTTGCACTTCCTTGTTTTTGAGAAGCACTG ATTTGAGAAGTCAGTGGCTTTTTCTCTTTAGTTTGCAGGGTTTGCTGTGATTTGTAATCA CGTACTTGACCTAGGCTTCCCTTTTCCACCATGGTAGCAGAAAGGGCATGGGATTGAGAG CTTTAAGTACGCGCTCTTTGCTTACTGTCTTATACCTTGAGCATGTCACTTCTCTCAGAC TTGTTTTCTCATCTGTAAATGGATCTGTTGTGAGGACTGACTGAGATAATGTTACTAGAA GGGCTTTGTATAATATTTAAGCAGAGTGAGAGGTAAGCTTTTTGTGTAGGTCAGGGGAAA TGGAGAAAATAGGTGCCCTGACTCAGACCAGTCTGGCTCTTTTTTTTTTTTTTTTTGGAG ACGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACGGCAA GCTCCACCTCCTGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTAC AGGCGCTCGCCACCACACCTGGCTAATTTTTTTGTATTTTTAGTAGAGACGAGGTTTCAC CACGTTAGCCAGGACGGTCTTGATCTCCTGACCTCATGATCCGCCTGCCTCGGCCTCCCA AAGTGCTGGGATTACAGGTGTGGGCCACCGTGCCCAGCCACCGGTGTGGCTCTTTAACAA CCTTTGCTTGTCCCGATAGGTCACCTTTGGCTCTTCAGAGATGCAGGGACACACGATGGG CTTCTGGTTAACCAAACTGAATTATTTGTGCCATCTCTCAATGTTGACGGACAGCCTATT TTTGCCAATATCACACTGCCAGGTACTGACGTTTTACTTTTTAAAAAGATAAGGTTGTTG TGGTAAGTACAGGATAGACCACTTGAAAAATTAAGCCCAGTTCTCAATTTTTGCCTGATG TCAGGCACGTTATCCAATCTTTTTGTATCCTATTCTCTACCATAAATAAAATGGAAGTGA TGTATTTGTACGTTATGTGTTAAAGGTGTTATGGTGTCTCAAAAGCACTTTGGGCTCTTA AGAGACAAGCGAAATTAAAGTATCATATCATAGGTTAGTTTTGTAGAATTGTAGAATTAC GAATGCCTTTTGTTTCCCTGGCCAAATTGTGCCCTGGAGTTCCAGGAGAACAATGTGTAG AGCATGAGATATTTTGGCTTATTTGTTGCTGACTTCTAATTTTTTTTATTTTTTTGAGAC AGAATCTCGCTGTGTTAGCTAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAACC TCCGCCTACTGGGTTCCAGTGATTCTCTTGTCTCAGCCTCCCGAGTAGCTGGGACTACAG GCGTGTGCCACCCACTCTGATAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTG TTAGCCAGGATGGTCTCCATCTCCTGACCTCATGATCTGCCCGCCTACGCCTCCCAAAGT GCTGGGATTACAGGCATCAGCCACAGCACCTGGCCTATGTATTTTCAATTTAACACAATC AAGCTCACAGTGCCAATCAGAGGTGTTTTTTTTTTTTTTATTTTTATTTTTAGAGAGTCT CACAGTGTCATCCAGGCTGGAGTGCAGTGGTGCGATTTCAGCTCACTGCAACCTCTGCAT CCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGGGTAGCTGGGGTTATAGGTGCCTG TCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGATGAGGTTTCACCATGTTGGCCA GGCTGATCTTGAACTCCTGACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGG GATTACAGGCGTGAGCCACTGCGTCCAGCCTGTTTTTTTTTTTTTTTAAATCATTGAAGA TTGGTATAATACTTCACTATTTGTTTGAAGCTCAAATGATTTTATCAGGGTAAACCCTAA TAAACTGATGTTCCTGTGGGTAAAAAAAACCTCACTAAAGACCAGCAGTGTGTGGTGGCT CCTGCCTGTAATCATGCCTGTAATTCCAGCACTTAGGGAGGCTATGGCGGGAGGGTCGCT TGAGACCAGGAGTTCTTGACCAGCCTGGACAACAAAGTGAGACCCCAGCTCCACAAAAAA ATTTTTTTTTAATTACCTGGGCATCTTAGCATATGCCTGTGGTCACAGCTATTTGGGAGG CTTAGGTGGGAGGATCCCTTGAGCCCAGGAGTTTGAGGCTGCAGTGAGCCATGATCATAC CACTGCACTCCAGCCCAGGTGACAGAGTGAGATCCTGTCTCAAAAAAAGAAAAAAAAAAC TCAAAAACCCCCCAAATACATGGGTTTCATAGGATTCAAACTACTATGTGTGTATAGATC CTGTTTTAAGGAAGTAGATATATAAAAATGAGCATTGCTAAGTTAAATTTGGTAAATTTG CCTTATAGAATACCCTCGAGTACGTTTCCAGTGAGTGTAAAATAGGAATTGGGATACCCA ATTCAGTTGTACTAGATTTTCTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG CCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCA CGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCC CGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCT CGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCCTAGATTTTCTAAGTACACATTGTTTTGGTTATGTGTTTTGT GACTACCACCCCAAAACTAATAACCACCTTTTTTTTTTTTTTGAGACAGAGTCTCACTGT GTCACCCAGGCTGGAGTGCAGTGGCGTGTGATCTTGGCTCACTGCAACCTCTGCCTCTCG GGTTCAAGCGATTCTCCTGCTTCAGCAGCTGGGACTACAGGTGTGCACCACCAAGCCTGG CTAATTTTTTGCATTTTAGTGGAGACGGGGGTTTCACCATGTTGACCAGGCTGATCTTGA ACTCTTGAGCTCAGGCAGTCTGCCTGCCTCAGCCTCCTAAAGTGCTAGGATTACAGGCGT GAGCCACTGCGCCCAGCCCACCATTTTATTTGTTCATAATTCTGTAGTCCAGGCTGGGCT CAGCTAGGCAGTTACTCTGCTGGTGGTAGTCGTTGGTGTGGCTGCCTTTTGCTGGCAGCT GGGGGCTGGGCCTGTCCCTCTTTTTTTTTTTTCTCTTTTCTTTTTTCTTTTTTTTCAAGA TAGGGTCTCACTCTGTCACCCAGGTTGGAGTGCAGTGGCATGATCTTAGCTCACTGCAAC CTCTGCCTCCAGGGCTCAAGTGATCCTCCCACCTCAGCCTCCCCAGTCGCTGGGACCACA GGCATGTGCCACCATGCCTGGCTAATTTTTTGTGTATTTTGTAGAGACGGGGTTTCGCCA TGTTGCCAGGCTGGTCTCGAACTCCTGAGCTCAGGCGATCTACTGACGTTGGCCTCCCAA AGTGTTGGGATCACAGGCATGAACCACCATGCCTGGCCAGGGCCTGTTCCTCTTTATGTG GTCTCTCTAGCAGGGTAGCTCAGGGCTTTCAAAAGTATAAAAGCAGAAGTCAGCAGGCCT TTTTAAGGCTTCGGCCTAGAATTGCCAGTGTCGCTTCATCCACATTCAGTTAGTTAAAGC AATCACAAGCCCAGCCCATTTCAAGGTGAAATTACTACAGAGGCATGAACACCATGAGGT GTCCATAGGGGGCCATCAGCATAACACACTGCCACATACATGCACTCACTTTTTTTCTTT AACCTAAAGTGAGATCCATCAGTAGTACAGGTAGTTGTTGGCAAAGCCTCTTGTTCGTTC CTTGTACTGAGACCCTAGTCTGCCACTGAGGATTTGGTTTTTGCCCTTCCAGTGTATACT CTGAAAGAGCGATGCCTCCAGGTTGTCCGGAGCCTAGTCAAGCCTGAGAATTACAGGAGA CTGGACATCGTCAGGTCGCTCTACGAAGATCTGGAAGACCACCCAAATGTGCAGAAAGAC CTGGAGCGGCTGACACAGGAGCGCATTGCACATCAACGGATGGGAGATTGAAGATTTCTG TTGAAACTTACACTGTTTCATCTCAGCTTTTGATGGTACTGATGAGTCTTGATCTAGATA CAGGACTGGTTCCTTCCTTAGTTTCAAAGTGTCTCATTCTCAGAGTAAAATAGGCACCAT TGCTTAAAAGAAAGTTAACTGACTTCACTAGGCATTGTGATGTTTAGGGGCAAACATCAC AAAATGTAATTTAATGCCTGCCCATTAGAGAAGTATTTATCAGGAGAAGGTGGTGGCATT TTTGCTTCCTAGTAAGTCAGGACAGCTTGTATGTAAGGAGGTTTGTATAAGTAATTCAGT GGGAATTGCAGCATATCGTTTAATTTTAAGAAGGCATTGGCATCTGCTTTTAATGGATGT ATAATACATCCATTCTACATCCGTAGCGGTTGGTGACTTGTCTGCCTCCTGCTTTGGGAA GACTGAGGCATCCGTGAGGCAGGGACAAGTCTTTCTCCTCTTTGAGACCCCAGTGCCTGC ACATCATGAGCCTTCAGTCAGGGTTTGTCAGAGGAACAAACCAGGGGACACTTTGTTAGA AAGTGCTTAGAGGTTCTGCCTCTATTTTTGTTGGGGGGTGGGAGAGGGGACCTTAAAATG TGTACAGTGAACAAATGTCTTAAAGGGAATCATTTTTGTAGGAAGCATTTTTTATAATTT TCTAAGTCGTGCACTTTCTCGGTCCACTCTTGTTGAAGTGCTGTTTTATTACTGTTTCTA AACTAGGATTGACATTCTACAGTTGTGATAATAGCATTTTTGTAACTTGCCATCCGCACA GAAAATACGAGAAAATCTGCATGTTTGATTATAGTATTAATGGACAAATAAGTTTTTGCT AAATGTGAGTATTTCTGTTCCTTTTTGTAAATATGTGACATTCCTGATTGATTTGGGTTT TTTTGTTGTTGTTGTTTTGTTTTGTTTTGTTTTTTTGAGATGGAGTCTCACTCTTGTCAC CCAGGCTGGAGTGCAGTGGCGCCATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAC GTAATCCTCCTGAGTAGCTGGGATTACAGGCGCCTGCCACCACGCTGGCCAATTTTTGTA CTTTTAGTAGAGACAGTGTTTCGTCATGTTGGCCAGGCTGGTTTCAAACTCCTGACCTCA GGTGATCCGCCCACCTCAGCCTCCCAAAATGGTGGGATTACAGGTGTGTGGGCCACCGTG CCTGGCTGATTCAGCATTTTTTATCAGGCAGGACCAGGTGGCACTTCCACCTCCAGCCTC TGGTCCTACCAATGGATTCATGGAGTAGCCTGGACTGTTTCATAGTTTTCTAAATGTACA AATTCTTATAGGCTAGACTTAGATTCATTAACTCAAATTCAATGCTTCTATCAGACTCAG TTTTTTGTAACTAATAGATTTTTTTTTCCACTTTTGTTCTACTCCTTCCCTAATAGCTTT TTAAAAAAATCTCCCCAGTAGAGAAACATTTGGAAAAGACAGAAAACTAAAAAGGAAGAA AAAAGATCCCTATTAGATACACTTCTTAAATACAATCACATTAACATTTTGAGCTATTTC CTTCCAGCCTTTTTAGGGCAGATTTTGGTTGGTTTTTACATAGTTGAGATTGTACTGTTC ATACAGTTTTATACCCTTTTTCATTTAACTTTATAACTTAAATATTGCTCTATGTTAGTA TAAGCTTTTCACAAACATTAGTATAGTCTCCCTTTTATAATTAATGTTTGTGGGTATTTC TTGGCATGCATCTTTAATTCCTTATCCTAGCCTTTGGGCACAATTCCTGTGCTCAAAAAT GAGAGTGACGGCTGGCATGGTGGCTCCCGCCTGTAATCCCAGTACTTTGGAAAGCCAAGG TAAGAGGATTGCTTGAGCCCAGAACTTCAAGATGAGCCTGGGCTCATAGTGAGAACCCAT CTATACAAAAAATTTTTAAAAATTAGCATGGCGGCACACATCTGTAATCCTAGCTACTTG GCAGGCTGAGGTGAGAAGATCATTGGAGTTTAGGAATTGGAGGCTGCAGTGAGCCATGAG TATGCCACTGCACTCCAGCCTGGGGGACAGAGCAAGACCCTGCCTCAAAAAAAAAAAAAA AAAA OMIM ID 608537