Rab3 GTPase-activating protein catalytic subunit 1 (RAB3GAP1)

Rab3 GTPase-activating protein catalytic subunit 1 (RAB3GAP1) is the catalytic component of the Rab3GAP complex, a heterodimer composed of RAB3GAP1 (130 kDa) and RAB3GAP2 (150 kDa). This complex regulates Rab3 subfamily GTPases by stimulating the conversion of Rab3-GTP to Rab3-GDP, thereby controlling regulated exocytosis of neurotransmitters and hormones. Rab3GAP1 also displays guanine nucleotide exchange factor (GEF) activity for Rab18, promoting its recruitment and activation at membrane compartments such as the ER and Golgi. Functions of RAB3GAP1 include organizing vesicle trafficking, cellular lipid storage and release, autophagy, and neurodevelopment. Pathogenic mutations in RAB3GAP1 disrupt normal protein function and are the primary cause of Warburg micro syndrome, a rare autosomal recessive disorder with postnatal growth retardation, microcephaly, congenital cataracts, optic atrophy, spastic paraplegia, and hypogonadism. Martsolf syndrome is a milder form with reduced protein function. No drugs directly targeting RAB3GAP1 are reported, and no established biomarkers or safety concerns exist beyond its genetic deficiency syndromes.

Other names

KIAA0066RAB3GAPRab3-GAPRAB3GAP130WARBM1P130rab3-GAP p130RAB3 GTPase activating protein subunit 1 (catalytic)Rab3 GTPase-activating protein 130 kDa subunit