FIGURE: 1 / 3
Immunogen sequence: RPRPVLRSVN SREPSQVIFC NRSPRVVLPV WLNFDGEPQP YPTLPPGTGR RIHSYRGHLW LFRDAGTHDG LLVNQTELFV PSLNVDGQPI FANITLPVYT LKERCLQVVR SLV
Positive Samples: HeLa, Mouse brain, Rat brain; Cellular Location: Cytoplasm, Membrane, Nucleus, Nucleus, Peripheral membrane protein
Von Hippel-Lindau syndrome (VHL) is a dominantly inherited familial cancer syndrome predisposing to a variety of malignant and benign tumors. A germline mutation of this gene is the basis of familial inheritance of VHL syndrome. The protein encoded by this gene is a component of the protein complex that includes elongin B, elongin C, and cullin-2, and possesses ubiquitin ligase E3 activity. This protein is involved in the ubiquitination and degradation of hypoxia-inducible-factor (HIF), which is a transcription factor that plays a central role in the regulation of gene expression by oxygen. RNA polymerase II subunit POLR2G/RPB7 is also reported to be a target of this protein. Alternatively spliced transcript variants encoding distinct isoforms have been observed.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Protein Aliases: elongin binding protein; Protein G7; pVHL; VHL19; VHLp18(MEA); Von Hippel Lindau; von hippel-lindau; von Hippel-Lindau disease tumor suppressor; von Hippel-Lindau syndrome homolog; von Hippel-Lindau syndrome protein homolog; von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase
Gene Aliases: HRCA1; pVHL; RCA1; VHL; VHL1; Vhlh
Molecular Function: ubiquitin-protein ligase