Aliases for RAB3GAP1 Gene
External Ids for RAB3GAP1 Gene
Previous GeneCards Identifiers for RAB3GAP1 Gene
This gene encodes the catalytic subunit of a Rab GTPase activating protein. The encoded protein forms a heterodimer with a non-catalytic subunit to specifically regulate the activity of members of the Rab3 subfamily of small G proteins. This protein mediates the hydrolysis of GTP bound Rab3 to the GDP bound form. Mutations in this gene are associated with Warburg micro syndrome. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Feb 2010]
GeneCards Summary for RAB3GAP1 Gene
RAB3GAP1 (RAB3 GTPase Activating Protein Subunit 1 (Catalytic)) is a Protein Coding gene. Diseases associated with RAB3GAP1 include warburg micro syndrome 1 and cataract - intellectual disability - hypogonadism. GO annotations related to this gene include GTPase activator activity and Rab guanyl-nucleotide exchange factor activity.
UniProtKB/Swiss-Prot for RAB3GAP1 Gene
Probable catalytic subunit of a GTPase activating protein that has specificity for Rab3 subfamily (RAB3A, RAB3B, RAB3C and RAB3D). Rab3 proteins are involved in regulated exocytosis of neurotransmitters and hormones. Specifically converts active Rab3-GTP to the inactive form Rab3-GDP. Required for normal eye and brain development. May participate in neurodevelopmental processes such as proliferation, migration and differentiation before synapse formation, and non-synaptic vesicular release of neurotransmitters.