Target intelligence / Profile preview

GTPase activating protein and VPS9 domains 1 (GAPVD1)

Target
GAPVD1
Molecular classification
Guanine nucleotide exchange factor (GEF), GTPase activating protein (GAP), Regulatory protein, Cytosolic signaling molecule
01

Overview

GTPase activating protein and VPS9 domains 1 (GAPVD1) is a cytosolic protein that functions as both a GTPase-activating protein (GAP) and a guanine nucleotide exchange factor (GEF)[1][3][9]. It activates Rab5 and Rab31, small GTPases involved in endocytosis and vesicle trafficking, and also exhibits GAP activity toward Ras[1][3]. GAPVD1 is essential for Rab5A activation during apoptotic cell engulfment and plays a role in EGFR trafficking and degradation[1][3]. It participates in insulin-stimulated plasma membrane phosphatidylinositol-3-phosphate formation, regulates LC2A4/GLUT4 trafficking, and is involved in endocytic transport[1][3][9]. Its dysfunction has been associated with hereditary steroid-resistant nephrotic syndrome and coenzyme Q10 deficiency[3]. No drugs or specific safety concerns are documented as of the latest available data.

Other names
GAPex-5RME-6Rab5-activating protein 6KIAA1521RAP6DKFZP434C212GAPEX5Rab5 exchange factorGAPD1_HUMAN
02

Biological functions

EndocytosisRegulation of protein traffickingInsulin receptor internalizationRab5 and Rab31 activationEpidermal growth factor receptor (EGFR) degradationIntracellular vesicle traffickingInsulin-stimulated plasma membrane phosphatidylinositol-3-phosphate formationLC2A4/GLUT4 traffickingEndocytic transportRab5A activation during apoptotic cell engulfment
03

Disease associations

Hereditary steroid-resistant nephrotic syndromeCoenzyme Q10 deficiency disease

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