RAB3GAP1 : RAB3 GTPase activating protein catalytic subunit 1

Description

The RAB3GAP1 (RAB3 GTPase activating protein catalytic subunit 1) is a protein-coding gene located on chromosome 2.

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 organization 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.

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 to form the RAB3GAP complex. The complex acts as a GTPase-activating protein (GAP) for various members of the Rab3 subfamily (RAB3A, RAB3B, RAB3C, and RAB3D), RAB5A, and RAB43, converting their active GTP-bound forms to inactive GDP-bound forms. The complex also acts as a guanine nucleotide exchange factor (GEF) for RAB18, promoting the conversion of inactive RAB18-GDP to the active form RAB18-GTP. RAB3 proteins play a role in the regulated release of neurotransmitters and hormones from cells. RAB18 is involved in vesicle trafficking, the movement of substances between cellular compartments, and the storage and release of fats. It is essential for recruiting and activating RAB18 at the endoplasmic reticulum (ER) membrane, where it maintains proper ER structure. RAB3GAP1 is essential for normal eye and brain development. It may participate in neurodevelopmental processes such as proliferation, migration, and differentiation before synapse formation. It may also be involved in the non-synaptic vesicular release of neurotransmitters.

RAB3GAP1 is also known as MARTS2, P130, RAB3GAP, RAB3GAP130, WARBM1.

Associated Diseases

Comprehensive carrier screening

WES Whole Exome Sequencing

Clinical Exome Sequencing