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

Gene name
VHL, HRCA1, RCA1, VHL1, pVHL
Definition
(RefSeq) von Hippel-Lindau tumor suppressor
  KO
K03871  von Hippel-Lindau disease tumor supressor
Organism
hsa  Homo sapiens (human)
Pathway
hsa04066  HIF-1 signaling pathway
hsa04120  Ubiquitin mediated proteolysis
hsa05200  Pathways in cancer
hsa05211  Renal cell carcinoma
Module
hsa_M00383  ECV complex
Network
N00080  Loss of VHL to HIF-1 signaling pathway
Disease
H00021  Renal cell carcinoma
H00236  Congenital polycythemia
H00559  von Hippel-Lindau syndrome
H01510  Malignant paraganglioma
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: VHL VHL_C
Motif
Other DBs
NCBI-GeneID: 7428
NCBI-ProteinID: NP_000542
OMIM: 608537
HGNC: 12687
Ensembl: ENSG00000134086
Vega: OTTHUMG00000128668
Pharos: P40337(Tchem)
UniProt: P40337 A0A024R2F2
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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