DISEASES

Disease-gene associations mined from literature

Literature associating WWTR1 and Sveinsson chorioretinal atrophy

WWTR1 [ENSP00000419465]

WW domain-containing transcription regulator protein 1; Transcriptional coactivator which acts as a downstream regulatory target in the Hippo signaling pathway that plays a pivotal role in organ size control and tumor suppression by restricting proliferation and promoting apoptosis. The core of this pathway is composed of a kinase cascade wherein STK3/MST2 and STK4/MST1, in complex with its regulatory protein SAV1, phosphorylates and activates LATS1/2 in complex with its regulatory protein MOB1, which in turn phosphorylates and inactivates YAP1 oncoprotein and WWTR1/TAZ. WWTR1 enhances PAX8 and NKX2-1/TTF1-dependent gene activation. Regulates the nuclear accumulation of SMADS and has a key role in coupling them to the transcriptional machinery such as the mediator complex. Regulates embryonic stem-cell self-renewal, promotes cell proliferation and epithelial-mesenchymal transition. ECO:0000269|PubMed:18227151, ECO:0000269|PubMed:18568018,

Synonyms:  WWTR1,  WWTR1p,  hWWTR1,  C9J038,  C9J337 ...

Linkouts:  STRING  Pharos  UniProt