RAB3 GTPase activating non-catalytic protein subunit 2
Dernière mise à jour 18 Aug 2020
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La RAB3GAP2 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 RAB3GAP2 protein interacts with another protein called RAB3GAP1 (produced from the RAB3GAP1 gene) to form the RAB3GAP complex.
Normal function
La RAB3GAP2 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 RAB3GAP2 protein interacts with another protein called RAB3GAP1 (produced from the RAB3GAP1 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
Other names
DKFZP434D245
KIAA0839
p150
RAB3 GTPase activating protein subunit 2 (non-catalytic)
rab3 GTPase-activating protein 150 kDa subunit
rab3 GTPase-activating protein non-catalytic subunit
rab3-GAP p150
rab3-GAP regulatory subunit
RAB3-GAP150
RAB3GAP150
RGAP-iso
SPG69
WARBM2
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Lectures complémentaires et références
- RAB3 GTPase activating non-catalytic protein subunit 2; MedlinePlus, National Library of Medicine.
- Aligianis IA, Morgan NV, Mione M, Johnson CA, Rosser E, Hennekam RC, Adams G, Trembath RC, Pilz DT, Stoodley N, Moore AT, Wilson S, Maher ER. Mutation in Rab3 GTPase-activating protein (RAB3GAP) noncatalytic subunit in a kindred with Martsolf syndrome. Am J Hum Genet. 2006 Apr;78(4):702-7. doi: 10.1086/502681. Epub 2006 Feb 14.
- Borck G, Wunram H, Steiert A, Volk AE, Korber F, Roters S, Herkenrath P, Wollnik B, Morris-Rosendahl DJ, Kubisch C. A homozygous RAB3GAP2 mutation causes Warburg Micro syndrome. Hum Genet. 2011 Jan;129(1):45-50. doi: 10.1007/s00439-010-0896-2. Epub 2010 Oct 22.
- Feldmann A, Bekbulat F, Huesmann H, Ulbrich S, Tatzelt J, Behl C, Kern A. The RAB GTPase RAB18 modulates macroautophagy and proteostasis. Biochem Biophys Res Commun. 2017 May 6;486(3):738-743. doi: 10.1016/j.bbrc.2017.03.112. Epub 2017 Mar 22.
- Gerondopoulos A, Bastos RN, Yoshimura S, Anderson R, Carpanini S, Aligianis I, Handley MT, Barr FA. Rab18 and a Rab18 GEF complex are required for normal ER structure. J Cell Biol. 2014 Jun 9;205(5):707-20. doi: 10.1083/jcb.201403026. Epub 2014 Jun 2.
- Handley MT, Carpanini SM, Mali GR, Sidjanin DJ, Aligianis IA, Jackson IJ, FitzPatrick DR. Warburg Micro syndrome is caused by RAB18 deficiency or dysregulation. Open Biol. 2015 Jun;5(6):150047. doi: 10.1098/rsob.150047.
- Sakane A, Manabe S, Ishizaki H, Tanaka-Okamoto M, Kiyokage E, Toida K, Yoshida T, Miyoshi J, Kamiya H, Takai Y, Sasaki T. Rab3 GTPase-activating protein regulates synaptic transmission and plasticity through the inactivation of Rab3. Proc Natl Acad Sci U S A. 2006 Jun 27;103(26):10029-34. doi: 10.1073/pnas.0600304103. Epub 2006 Jun 16.
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