KEGG   Homo sapiens (human): 7428Help
Entry
7428              CDS       T01001                                 

Gene name
VHL, HRCA1, RCA1, VHL1, pVHL
Definition
von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase
Orthology
K03871  
von Hippel-Lindau disease tumor supressor
Organism
hsa  Homo sapiens (human)
Pathway
HIF-1 signaling pathway
Ubiquitin mediated proteolysis
Pathways in cancer
Renal cell carcinoma
Module
ECV complex
Disease
H00021  
Renal cell carcinoma
H00236  
Congenital polycythemia
H00559  
von Hippel-Lindau syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 Genetic Information Processing
  Folding, sorting and degradation
   04120 Ubiquitin mediated proteolysis
    7428 (VHL)
 Environmental Information Processing
  Signal transduction
   04066 HIF-1 signaling pathway
    7428 (VHL)
 Human Diseases
  Cancers
   05200 Pathways in cancer
    7428 (VHL)
   05211 Renal cell carcinoma
    7428 (VHL)
Ubiquitin system [BR:hsa04121]
 Ubiquitin ligases (E3)
  multi subunit Ring-finger type E3
   ECV complex
    target recognizing subunit (VHL box)
     7428 (VHL)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: 
Motif
Other DBs
NCBI-GI: 
NCBI-GeneID: 
OMIM: 
HGNC: 
HPRD: 
UniProt: 
Structure
PDB: 

Jmol
Position
3p25.3
AA seq 213 aa AA seqDB search
MPRRAENWDEAEVGAEEAGVEEYGPEEDGGEESGAEESGPEESGPEELGAEEEMEAGRPR
PVLRSVNSREPSQVIFCNRSPRVVLPVWLNFDGEPQPYPTLPPGTGRRIHSYRGHLWLFR
DAGTHDGLLVNQTELFVPSLNVDGQPIFANITLPVYTLKERCLQVVRSLVKPENYRRLDI
VRSLYEDLEDHPNVQKDLERLTQERIAHQRMGD
NT seq 642 nt NT seq  +upstreamnt  +downstreamnt
atgccccggagggcggagaactgggacgaggccgaggtaggcgcggaggaggcaggcgtc
gaagagtacggccctgaagaagacggcggggaggagtcgggcgccgaggagtccggcccg
gaagagtccggcccggaggaactgggcgccgaggaggagatggaggccgggcggccgcgg
cccgtgctgcgctcggtgaactcgcgcgagccctcccaggtcatcttctgcaatcgcagt
ccgcgcgtcgtgctgcccgtatggctcaacttcgacggcgagccgcagccctacccaacg
ctgccgcctggcacgggccgccgcatccacagctaccgaggtcacctttggctcttcaga
gatgcagggacacacgatgggcttctggttaaccaaactgaattatttgtgccatctctc
aatgttgacggacagcctatttttgccaatatcacactgccagtgtatactctgaaagag
cgatgcctccaggttgtccggagcctagtcaagcctgagaattacaggagactggacatc
gtcaggtcgctctacgaagatctggaagaccacccaaatgtgcagaaagacctggagcgg
ctgacacaggagcgcattgcacatcaacggatgggagattga

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