KEGG   Homo sapiens (human): 7428
Entry
7428              CDS       T01001                                 
Symbol
VHL, HRCA1, RCA1, VHL1, pVHL
Name
(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
Network
nt06225  HIF-1 signaling (cancer)
nt06264  Renal cell carcinoma
nt06542  HIF signaling
  Element
N00080  Loss of VHL to HIF-1 signaling pathway
N00081  Mutation-inactivated VHL to HIF-1 signaling pathway
N01872  Proteasomal degradation of HIF by VHL complex
N01873  VHL mutation to HIF-2 signaling pathway
Disease
H00021  Renal cell carcinoma
H00236  Congenital polycythemia
H00559  von Hippel-Lindau syndrome
H01510  Malignant paraganglioma
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09120 Genetic Information Processing
  09123 Folding, sorting and degradation
   04120 Ubiquitin mediated proteolysis
    7428 (VHL)
 09130 Environmental Information Processing
  09132 Signal transduction
   04066 HIF-1 signaling pathway
    7428 (VHL)
 09160 Human Diseases
  09161 Cancer: overview
   05200 Pathways in cancer
    7428 (VHL)
  09162 Cancer: specific types
   05211 Renal cell carcinoma
    7428 (VHL)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   04121 Ubiquitin system [BR:hsa04121]
    7428 (VHL)
Ubiquitin system [BR:hsa04121]
 Ubiquitin ligases (E3)
  Multi subunit type E3
   Cul2 complex
    Target recognizing subunit
     7428 (VHL)
SSDB
Motif
Pfam: VHL VHL_C Arm_vescicular
Other DBs
NCBI-GeneID: 7428
NCBI-ProteinID: NP_000542
OMIM: 608537
HGNC: 12687
Ensembl: ENSG00000134086
UniProt: P40337 A0A024R2F2
Structure
Position
3:10141778..10153667
AA seq 213 aa
MPRRAENWDEAEVGAEEAGVEEYGPEEDGGEESGAEESGPEESGPEELGAEEEMEAGRPR
PVLRSVNSREPSQVIFCNRSPRVVLPVWLNFDGEPQPYPTLPPGTGRRIHSYRGHLWLFR
DAGTHDGLLVNQTELFVPSLNVDGQPIFANITLPVYTLKERCLQVVRSLVKPENYRRLDI
VRSLYEDLEDHPNVQKDLERLTQERIAHQRMGD
NT seq 642 nt   +upstreamnt  +downstreamnt
atgccccggagggcggagaactgggacgaggccgaggtaggcgcggaggaggcaggcgtc
gaagagtacggccctgaagaagacggcggggaggagtcgggcgccgaggagtccggcccg
gaagagtccggcccggaggaactgggcgccgaggaggagatggaggccgggcggccgcgg
cccgtgctgcgctcggtgaactcgcgcgagccctcccaggtcatcttctgcaatcgcagt
ccgcgcgtcgtgctgcccgtatggctcaacttcgacggcgagccgcagccctacccaacg
ctgccgcctggcacgggccgccgcatccacagctaccgaggtcacctttggctcttcaga
gatgcagggacacacgatgggcttctggttaaccaaactgaattatttgtgccatctctc
aatgttgacggacagcctatttttgccaatatcacactgccagtgtatactctgaaagag
cgatgcctccaggttgtccggagcctagtcaagcctgagaattacaggagactggacatc
gtcaggtcgctctacgaagatctggaagaccacccaaatgtgcagaaagacctggagcgg
ctgacacaggagcgcattgcacatcaacggatgggagattga

  All links  
Disease (5)   
   OMIM (5)   
Gene (11)   
   RefGene (4)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (2)   
   OC (1)   
Protein sequence (6)   
   UniProt (2)   
   SWISS-PROT (1)   
   RefSeq(pep) (3)   
DNA sequence (46)   
   RefSeq(nuc) (4)   
   GenBank (21)   
   EMBL (21)   
3D Structure (117)   
   PDB (117)   
Protein domain (3)   
   Pfam (3)   
All databases (188)   

Download RDF
DBGET integrated database retrieval system