RAB3 GTPase activating protein catalytic subunit 1

Normal function

The RAB3GAP1 gene provides instructions for making a protein that helps regulate the activity of specialized proteins called GTPases, which control a variety of functions in cells. To perform its function, the RAB3GAP1 protein interacts with another protein called RAB3GAP2 (produced from the RAB3GAP2 gene) to form the RAB3GAP complex.

Often referred to as molecular switches, GTPases can be turned on and off. They are turned on (active) when they are attached (bound) to a molecule called GTP and are turned off (inactive) when they are bound to another molecule called GDP. The RAB3GAP complex turns on a GTPase known as RAB18 by exchanging GTP for the attached GDP. When active, RAB18 is involved in a process called vesicle trafficking, which moves proteins and other molecules within cells in sac-like structures called vesicles. RAB18 regulates the movement of substances between compartments in cells and the storage and release of fats (lipids) by structures called lipid droplets. The protein also appears to play a role in a process called autophagy, which helps clear unneeded materials from cells. RAB18 is important for the organisation of a cell structure called the endoplasmic reticulum, which is involved in protein processing and transport.

The RAB3GAP complex is also thought to inactivate another GTPase known as RAB3 by stimulating a reaction that turns the attached GTP into GDP. RAB3 plays a role in the release of hormones and brain chemicals (neurotransmitters) from cells.

Conditions referring to this gene or chromosome

• Coloboma

• Keratoconus

• RAB18 deficiency

Other names

KIAA0066

P130

RAB3 GTPase activating protein subunit 1 (catalytic)

RAB3 GTPase-activating protein 130 kDa subunit

rab3 GTPase-activating protein catalytic subunit isoform 1

rab3 GTPase-activating protein catalytic subunit isoform 2

rab3-GAP p130

RAB3GAP

RAB3GAP130

WARBM1