KEGG T01001: 7428

Homo sapiens (human): 7428

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

hsa04066	HIF-1 signaling pathway
hsa04120	Ubiquitin mediated proteolysis
hsa05200	Pathways in cancer
hsa05211	Renal cell carcinoma

Module

hsa_M00383

ECV complex

Disease

H00021	Renal cell carcinoma
H00236	Congenital polycythemia
H00559	von Hippel-Lindau syndrome

Class

Genetic Information Processing; Folding, sorting and degradation; Ubiquitin mediated proteolysis [PATH:hsa04120]
Environmental Information Processing; Signal transduction; HIF-1 signaling pathway [PATH:hsa04066]
Human Diseases; Cancers; Pathways in cancer [PATH:hsa05200]
Human Diseases; Cancers; Renal cell carcinoma [PATH:hsa05211]

SSDB

Motif

Pfam:

VHL

Other DBs

NCBI-GI:

NCBI-GeneID:

OMIM:

HGNC:

HPRD:

UniProt:

Structure

PDB:

4AJY 1LM8 4B9K 1LQB 4AWJ 3ZUN 3ZTC 1VCB 3ZTD 4B95 3ZRF 3ZRC

Position

3p25.3

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

Ontology (1)   
   KEGG BRITE (1)   
Pathway (5)   
   KEGG PATHWAY (4)   
   KEGG MODULE (1)   
Disease (8)   
   KEGG DISEASE (3)   
   OMIM (5)   
Genome (1)   
   KEGG GENOME (1)   
Gene (11)   
   KEGG ORTHOLOGY (1)   
   NCBI-Gene (1)   
   NCBI-GI (5)   
   UniGene (1)   
   HGNC (1)   
   HPRD (1)   
   OC (1)   
Protein sequence (3)   
   UniProt (1)   
   RefSeq(pep) (2)   
DNA sequence (32)   
   RefSeq(nuc) (2)   
   GenBank (15)   
   EMBL (15)   
3D Structure (12)   
   PDB (12)   
Protein domain (1)   
   Pfam (1)   
All databases (74)   

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