Disease-gene associations mined from literature

Literature associating WWP1 and Troyer syndrome

WWP1 [ENSP00000427793]

WW domain containing E3 ubiquitin protein ligase 1; E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates. Ubiquitinates ERBB4 isoforms JM-A CYT-1 and JM-B CYT-1, KLF2, KLF5 and TP63 and promotes their proteasomal degradation. Ubiquitinates RNF11 without targeting it for degradation. Ubiquitinates and promotes degradation of TGFBR1; the ubiquitination is enhanced by SMAD7. Ubiquitinates SMAD6 and SMAD7. Ubiquitinates and promotes degradation of SMAD2 in response to TGF-beta signaling, which requires interaction with TGIF; C2 and WW domain containing

Synonyms:  WWP1,  WWP1p,  hWWP1,  H0YBS9,  Q9H0M0 ...

Linkouts:  STRING  Pharos  UniProt