Disease-gene associations mined from literature

Literature associating RASSF1 and intracranial primitive neuroectodermal tumor

RASSF1 [ENSP00000349547]

Ras association (RalGDS/AF-6) domain family member 1; Potential tumor suppressor. Required for death receptor- dependent apoptosis. Mediates activation of STK3/MST2 and STK4/MST1 during Fas-induced apoptosis by preventing their dephosphorylation. When associated with MOAP1, promotes BAX conformational change and translocation to mitochondrial membranes in response to TNF and TNFSF10 stimulation. Isoform A interacts with CDC20, an activator of the anaphase-promoting complex, APC, resulting in the inhibition of APC activity and mitotic progression. Inhibits proliferation by negatively regulating cell cycle progression at the level of G1/S-phase transition by regulating accumulation of cyclin D1 protein. Isoform C has been shown not to perform these roles, no function has been identified for this isoform. Isoform A disrupts interactions among MDM2, DAXX and USP7, thus contributing to the efficient activation of TP53 by promoting MDM2 self-ubiquitination in cell-cycle checkpoint control in response to DNA damage; Ras association domain family

Synonyms:  RASSF1,  RASSF1p,  hRASSF1,  A8K9C3,  Q1W2K8 ...

Linkouts:  STRING  Pharos  UniProt  OMIM