Profil protéine

The protein encoded by this gene is located in the cytoplasm and is part of the GAP1 family of GTPase-activating proteins. The gene product stimulates the GTPase activity of normal RAS p21 but not its oncogenic counterpart. Acting as a suppressor of RAS function, the protein enhances the weak intrinsic GTPase activity of RAS proteins resulting in the inactive GDP-bound form of RAS, thereby allowing control of cellular proliferation and differentiation. Mutations leading to changes in the binding sites of either protein are associated with basal cell carcinomas. Mutations also have been associated with hereditary capillary malformations (CM) with or without arteriovenous malformations (AVM) and Parkes Weber syndrome. Alternative splicing results in two isoforms where the shorter isoform, lacking the N-terminal hydrophobic region but retaining the same activity, appears to be abundantly expressed in placental but not adult tissues.

Alternative names and synonyms associated with RASA1

• vacuolar peduncle (vap) anticorps
• RAS p21 protein activator 1 (RASA1) anticorps
• RAS p21 protein activator 1 (Rasa1) anticorps

• CG9209 anticorps
• CM-AVM anticorps
• CMAVM anticorps
• D-RasGAP anticorps
• Dmel\\CG9209 anticorps
• Afficher tous les alias de synonymes
• Gap anticorps
• GAPX anticorps
• p120GAP anticorps
• p120RASGAP anticorps
• PKWS anticorps
• RAS-GAP anticorps
• Rasa anticorps
• RASGAP anticorps

Protein level used designations for RASA1

CG9209-PA , CG9209-PB , CG9209-PC , CG9209-PD , Ras GTPase-activating protein , vacuolar peduncule , vacuolar pedunculi , vap-PA , vap-PB , vap-PC , vap-PD , ras GTPase-activating protein 1 , triphosphatase-activating protein , GAP , GTPase-activating protein , RAS p21 protein activator (GTPase activating protein RAS p21) , p120GAP , rasGAP , RAS p21 protein activator 1 , p120-rasGAP