RASA1 Antibody – Rabbit Polyclonal

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. [provided by RefSeq, May 2012]

RASA1: a GTPase activator for normal RAS p21 but not its oncogenic counterpart, converting it to the putatively inactive GDP-bound state. Acting as a suppressor of RAS function, it 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. Two alternatively spliced isoforms have been described.

Protein type: Motility/polarity/chemotaxis; GAPs, Ras; Oncoprotein; GAPs

Chromosomal Location of Human Ortholog: 5q13.3

Cellular Component: ruffle; cytoplasm; cytosol

Molecular Function: GTPase binding; protein binding; glycoprotein binding; potassium channel inhibitor activity; receptor binding

Biological Process: axon guidance; negative regulation of cell adhesion; negative regulation of cell-matrix adhesion; signal transduction; regulation of cell shape; regulation of actin filament polymerization; embryonic development; cytokinesis after mitosis; regulation of RNA metabolic process; ephrin receptor signaling pathway; blood vessel morphogenesis; negative regulation of Ras protein signal transduction; negative regulation of neuron apoptosis; vascular endothelial growth factor receptor signaling pathway; vasculogenesis

Disease: Parkes Weber Syndrome; Capillary Malformation-arteriovenous Malformation; Basal Cell Carcinoma, Susceptibility To, 1