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Western Blot

Entrez GeneID

GeneBank Accession#

Protein Accession#

Gene Name

RASA1

Gene Alias

CM-AVM, CMAVM, DKFZp434N071, GAP, PKWS, RASA, RASGAP, p120GAP, p120RASGAP

Gene Description

RAS p21 protein activator (GTPase activating protein) 1

Omim ID

Gene Ontology

Gene Summary

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. 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

Other Designations

GTPase activating protein|RAS p21 protein activator 1|triphosphatase-activating protein