Homo sapiens (human): 7428
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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)
BRITE hierarchy
SSDB
Ortholog
Paralog
Gene cluster
GFIT
Motif
Pfam:
VHL
VHL_C
Arm_vescicular
Motif
Other DBs
NCBI-GeneID:
7428
NCBI-ProteinID:
NP_000542
OMIM:
608537
HGNC:
12687
Ensembl:
ENSG00000134086
UniProt:
P40337
A0A024R2F2
Structure
PDB
PDBj
LinkDB
All DBs
Position
3:10141778..10153667
Genome browser
AA seq
213 aa
AA seq
DB search
MPRRAENWDEAEVGAEEAGVEEYGPEEDGGEESGAEESGPEESGPEELGAEEEMEAGRPR
PVLRSVNSREPSQVIFCNRSPRVVLPVWLNFDGEPQPYPTLPPGTGRRIHSYRGHLWLFR
DAGTHDGLLVNQTELFVPSLNVDGQPIFANITLPVYTLKERCLQVVRSLVKPENYRRLDI
VRSLYEDLEDHPNVQKDLERLTQERIAHQRMGD
NT seq
642 nt
NT seq
+upstream
nt +downstream
nt
atgccccggagggcggagaactgggacgaggccgaggtaggcgcggaggaggcaggcgtc
gaagagtacggccctgaagaagacggcggggaggagtcgggcgccgaggagtccggcccg
gaagagtccggcccggaggaactgggcgccgaggaggagatggaggccgggcggccgcgg
cccgtgctgcgctcggtgaactcgcgcgagccctcccaggtcatcttctgcaatcgcagt
ccgcgcgtcgtgctgcccgtatggctcaacttcgacggcgagccgcagccctacccaacg
ctgccgcctggcacgggccgccgcatccacagctaccgaggtcacctttggctcttcaga
gatgcagggacacacgatgggcttctggttaaccaaactgaattatttgtgccatctctc
aatgttgacggacagcctatttttgccaatatcacactgccagtgtatactctgaaagag
cgatgcctccaggttgtccggagcctagtcaagcctgagaattacaggagactggacatc
gtcaggtcgctctacgaagatctggaagaccacccaaatgtgcagaaagacctggagcgg
ctgacacaggagcgcattgcacatcaacggatgggagattga
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integrated database retrieval system
