DISEASES

Disease-gene associations mined from literature

Literature associating TTC3 and retinitis pigmentosa 58

TTC3 [ENSP00000381981]

E3 ubiquitin-protein ligase TTC3; E3 ubiquitin-protein ligase which catalyzes the formation of 'Lys-48'-polyubiquitin chains . Mediates the ubiquitination and subsequent degradation of phosphorylated Akt (AKT1, AKT2 and AKT3) in the nucleus . Acts as a terminal regulator of Akt signaling after activation; its phosphorylation by Akt, which is a prerequisite for ubiquitin ligase activity, suggests the existence of a regulation mechanism required to control Akt levels after activation . Positively regulates TGFB1-induced epithelial- mesenchymal transition and myofibroblast differentiation by mediating the ubiquitination and subsequent degradation of SMURF2 . Regulates neuronal differentiation by regulating actin remodeling and Golgi organization via a signaling cascade involving RHOA, CIT and ROCK . Inhibits cell proliferation . ECO:0000269|PubMed:24695496, ECO:0000269|PubMed:30203323,

Synonyms:  TTC3,  TTC3p,  hTTC3,  A8MT23,  B4DSZ9 ...

Linkouts:  STRING  Pharos  UniProt