Gene Symbol |
Vhl
|
Entrez Gene |
22346
|
Alt Symbol |
Vhlh
|
Species |
Mouse
|
Gene Type |
protein-coding
|
Description |
von Hippel-Lindau tumor suppressor
|
Other Description |
pVHL|von Hippel-Lindau disease tumor suppressor|von Hippel-Lindau syndrome homolog|von Hippel-Lindau syndrome protein homolog
|
Swissprots |
P40338
|
Accessions |
AAM53645 EDK99490 EDK99491 P40338 AK159238 BAE34921 AK161408 BAE36378 AK171264 BAE42352 AK171604 BAE42557 BC052417 AAH52417 S76748 AAB33363 U12570 AAA20662 NM_009507 NP_033533
|
Function |
Involved in the ubiquitination and subsequent proteasomal degradation via the von Hippel-Lindau ubiquitination complex. Seems to act as target recruitment subunit in the E3 ubiquitin ligase complex and recruits hydroxylated hypoxia- inducible factor (HIF) under normoxic conditions. Involved in transcriptional repression through interaction with HIF1A, HIF1AN and histone deacetylases. Ubiquitinates, in an oxygen-responsive manner, ADRB2 (By similarity). {ECO:0000250}.
|
Subcellular Location |
Cytoplasm {ECO:0000250}. Membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}. Nucleus {ECO:0000250}. Note=Colocalizes with ADRB2 at the cell membrane. {ECO:0000250}.
|
Top Pathways |
Ubiquitin mediated proteolysis, Renal cell carcinoma
|