RASA1

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]

Full Name

RAS p21 protein activator (GTPase activating protein) 1

Function

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.

Biological Process

Biological Process blood vessel morphogenesisManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process ephrin receptor signaling pathwayTAS:Reactome
Biological Process intracellular signal transduction1 PublicationNAS:UniProtKB
Biological Process mitotic cytokinesisISS:UniProtKB
Biological Process negative regulation of apoptotic processManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process negative regulation of cell adhesionManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process negative regulation of cell-matrix adhesionManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process negative regulation of neuron apoptotic processISS:UniProtKB
Biological Process negative regulation of Ras protein signal transductionIEA:InterPro
Biological Process positive regulation of GTPase activityIEA:InterPro
Biological Process regulation of actin filament polymerizationManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process regulation of cell shape1 PublicationNAS:UniProtKB
Biological Process regulation of RNA metabolic process1 PublicationNAS:UniProtKB
Biological Process signal transductionManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process vasculogenesisISS:UniProtKB

Cellular Location

Cytoplasm

Involvement in disease

Capillary malformation-arteriovenous malformation 1 (CMAVM1):
A disorder characterized by atypical capillary malformations that are multiple, small, round to oval in shape and pinkish red in color. These capillary malformations are associated with either arteriovenous malformation, arteriovenous fistula, or Parkes Weber syndrome. CMAVM1 inheritance is autosomal dominant.

PTM

The N-terminus is blocked.
Phosphorylated by SRC and LCK. The phosphorylation SRC inhibits its ability to stimulate the Ras-GTPase activity, whereas phosphorylation by LCK does not display any effect on stimulation activity.