Aliases for RASA1 Gene
External Ids for RASA1 Gene
Previous HGNC Symbols for RASA1 Gene
Previous GeneCards Identifiers for RASA1 Gene
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]
GeneCards Summary for RASA1 Gene
RASA1 (RAS P21 Protein Activator 1) is a Protein Coding gene. Diseases associated with RASA1 include Capillary Malformation-Arteriovenous Malformation 1 and Basal Cell Carcinoma, Multiple. Among its related pathways are RET signaling and Development EGFR signaling via small GTPases. Gene Ontology (GO) annotations related to this gene include signaling receptor binding. An important paralog of this gene is RASAL1.
UniProtKB/Swiss-Prot Summary for RASA1 Gene
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.