RASA1 phospho Y460
Function
Inhibitory regulator of the Ras-cyclic AMP pathway. Stimulates the GTPase of normal but not oncogenic Ras p21; this stimulation may be further increased in the presence of NCK1.
Involvement in disease
Mutations in the SH2 domain of RASA seem to be oncogenic and cause basal cell carcinomas.
Capillary malformation-arteriovenous malformation 1
CMAVM1
A disorder characterized by atypical capillary malformations that are multiple, small, round to oval in shape and pinkish red in color. These capillary malformations are associated with either arteriovenous malformation, arteriovenous fistula, or Parkes Weber syndrome. CMAVM1 inheritance is autosomal dominant.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
The N-terminus is blocked.
Phosphorylated by SRC and LCK. The phosphorylation SRC inhibits its ability to stimulate the Ras-GTPase activity, whereas phosphorylation by LCK does not display any effect on stimulation activity.
Tissue Specificity
In placental villi, detected only in the trophoblast layer (cytotrophoblast and syncytiotrophoblast). Not detected in stromal, endothelial or Hofbauer cells (at protein level).
Cellular localization
- Cytoplasm
Alternative names
GAP, RASA, RASA1, Ras GTPase-activating protein 1, GTPase-activating protein, RasGAP, Ras p21 protein activator, p120GAP