Immunogen sequence: MPRRAENWDE AEVGAEEAGV EEYGPEEDGG EESGAEESGP EESGPEELGA EEEMEAGRPR PVLRSVNSRE PSQVIFCNRS PRVVLPVWLN FDGEPQPYPT LPPGTGRRIH SYRVYTLKER CLQVVRSLVK PENYRRLDIV RSLYEDLEDH PNVQKDLERL TQERIAHQRM GD; 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.
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Protein Aliases: elongin binding protein; Protein G7; pVHL; VHL19; VHLp18(MEA); 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: ligase