Target intelligence / Profile preview

Ral GTPase-activating protein subunit alpha-1 (RALGAPA1)

Target
RALGAPA1
Molecular classification
Enzyme, GTPase-activating protein (GAP), Signal transduction regulator
01

Overview

Ral GTPase-activating protein subunit alpha-1 (RALGAPA1) is a catalytic subunit of the heterodimeric RalGAP1 complex, which functions as a GTPase-activating protein (GAP) for the Ras-related GTPases RALA and RALB[1][2][7]. This activity promotes GTP hydrolysis, thus inactivating these GTPases and regulating signal transduction pathways, including those involved in cell growth, differentiation, and insulin-responsive signaling[1][7]. RALGAPA1 is essential for proper neurodevelopment and has been associated with rare neurodevelopmental disorders and has a reported tumor suppressor role as part of the RalGAP complex[2]. The gene has multiple aliases and encodes an enzyme required for GTPase activation, with mutations linked to developmental and epileptic encephalopathy among other phenotypes[1][3][6][7].

Other names
GAP-related interacting protein to E12DKFZp667F074P240Ral GTPase activating protein catalytic alpha subunit 1GTPase-activating Rap/Ran-GAP domain-like 1GTPase activating RANGAP domain-like 1GAP-related-interacting partner to E12NEDHRITTULIP1GARNL1RalGAPalpha1
02

Biological functions

GTPase activator activityRegulation of Ras-like small GTPases (RALA and RALB)Participation in Rho GTPase signaling pathwaysProtein heterodimerizationRegulation of skeletal muscle function and insulin signaling
03

Disease associations

Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulationDevelopmental and epileptic encephalopathyTumor suppression (via RalGAP complex acting as a tumor suppressor)Other (potential roles in cancer and cell growth regulation)

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