The pVHL₁₇₂ isoform is not a tumor suppressor and up-regulates a subset of pro-tumorigenic genes including TGFB1 and MMP13.

ABSTRACT: The von Hippel-Lindau (VHL) tumor suppressor gene is often deleted or mutated in ccRCC (clear cell renal cell carcinoma) producing a non-functional protein. The gene encodes two mRNA, and three protein isoforms (pVHL₂₁₃, pVHL₁₆₀ and pVHL₁₇₂). The pVHL protein is part of an E3 ligase complex involved in the ubiquitination and proteasomal degradation of different proteins, particularly hypoxia inducible factors (HIF) that drive the transcription of genes involved in the regulation of cell proliferation, angiogenesis or extracellular matrix remodelling. Other non-canonical (HIF-independent) pVHL functions have been described. A recent work reported the expression of the uncharacterized protein isoform pVHL₁₇₂ which is translated from the vari

SUBMITTER: Hascoet P 

PROVIDER: S-EPMC5652680 | biostudies-literature | 2017 Sep

REPOSITORIES: biostudies-literature