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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for RASA1 (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID5921
Official gene symbolRASA1
Full nameRAS p21 protein activator (GTPase activating protein) 1
Aliases,CM-AVM,CMAVM,DKFZp434N071,GAP,PKWS,RASA,RASGAP,p120GAP,p120RASGAP,
Gene summaryThe 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]
LocationChromosome: 5   Locus: 5q13.3
Gene position86564151 - 86687733  Map Viewer
Gene orientationplus
Gene size123583 bp
Gene sequence
OMIM ID139150