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: cytoplasm; cytosol; ruffle

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

Biological Process: activation of MAPKK activity; axon guidance; blood vessel morphogenesis; cytokinesis after mitosis; embryonic development; ephrin receptor signaling pathway; epidermal growth factor receptor signaling pathway; fibroblast growth factor receptor signaling pathway; innate immune response; insulin receptor signaling pathway; MAPKKK cascade; negative regulation of cell adhesion; negative regulation of cell-matrix adhesion; negative regulation of neuron apoptosis; negative regulation of Ras protein signal transduction; nerve growth factor receptor signaling pathway; positive regulation of GTPase activity; Ras protein signal transduction; regulation of actin filament polymerization; regulation of cell shape; regulation of RNA metabolic process; signal transduction; small GTPase mediated signal transduction; vascular endothelial growth factor receptor signaling pathway; vasculogenesis

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