DISEASES

Disease-gene associations mined from literature

Literature associating RASIP1 and Sotos syndrome

RASIP1 [ENSP00000222145]

Ras interacting protein 1; Required for the proper formation of vascular structures that develop via both vasculogenesis and angiogenesis. Acts as a critical and vascular-specific regulator of GTPase signaling, cell architecture, and adhesion, which is essential for endothelial cell morphogenesis and blood vessel tubulogenesis. Regulates the activity of Rho GTPases in part by recruiting ARHGAP29 and suppressing RhoA signaling and dampening ROCK and MYH9 activities in endothelial cells (By similarity). May act as effector for Golgi-bound HRAS and other Ras-like proteins. May promote HRAS- mediated transformation. Negative regulator of amino acid starvation-induced autophagy.

Synonyms:  RASIP1,  RASIP1p,  hRASIP1,  B3KVR5,  Q5U651 ...

Linkouts:  STRING  Pharos  UniProt  OMIM