| Gene Symbol |
VHL
|
| Entrez Gene |
7428
|
| Alt Symbol |
HRCA1, RCA1, VHL1, pVHL
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase
|
| Other Description |
elongin binding protein|protein G7|von Hippel-Lindau disease tumor suppressor
|
| Swissprots |
P40337 Q13599 Q6PDA9 B2RE45
|
| Accessions |
AAA98614 AAB64200 ABP65324 AFM52329 AFS51418 CAA65343 CAB50862 CAB50863 CBX47504 CBX47505 EAW64064 EAW64065 EAW64066 EAW64067 EAW64068 P40337 AA361862 AF088066 AK304002 BAG64919 AK309560 AK315799 BAG38142 AW022843 BC027957 AAH27957 BC058831 AAH58831 BG284971 BG288777 BG914051 BM564781 BX100230 D58014 L15409 XM_011534078 XP_011532380 NM_000551 NP_000542 NM_198156 NP_937799
|
| 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. {ECO:0000269|PubMed:10944113, ECO:0000269|PubMed:17981124, ECO:0000269|PubMed:19584355}.
|
| Subcellular Location |
Isoform 1: Cytoplasm. Membrane; Peripheral membrane protein. Nucleus. Note=Found predominantly in the cytoplasm and with less amounts nuclear or membrane-associated. Colocalizes with ADRB2 at the cell membrane.
|
| Tissue Specificity |
Expressed in the adult and fetal brain and kidney.
|
| Top Pathways |
Ubiquitin mediated proteolysis, Renal cell carcinoma
|