Summary: 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].

RAB3 GTPase activating protein catalytic subunit 1MIM:602536Ensembl:ENSG00000115839HGNC:HGNC:17063PA1349696392q21.3

GO terms in RAB3GAP1

Term TypeEvidence TypeGO Term IDGO Des.
CCTASGO:0005789endoplasmic reticulum membrane
CCIDAGO:0005794Golgi apparatus
CCIDAGO:0005811lipid droplet
CCIDAGO:0032991protein-containing complex
CCHDAGO:0070062extracellular exosome
CCIDAGO:0071782endoplasmic reticulum tubular network
BPIMPGO:0007420brain development
BPIEAGO:0010628positive regulation of gene expression
BPIMPGO:0021854hypothalamus development
BPIMPGO:0034389lipid particle organization
BPIMPGO:0043010camera-type eye development
BPIDAGO:0043087regulation of GTPase activity
BPIBAGO:0043547positive regulation of GTPase activity
BPIMPGO:0043547positive regulation of GTPase activity
BPISSGO:0043547positive regulation of GTPase activity
BPISSGO:0048172regulation of short-term neuronal synaptic plasticity
BPISSGO:0060079excitatory postsynaptic potential
BPIMPGO:0060325face morphogenesis
BPISSGO:0061646positive regulation of glutamate neurotransmitter secretion in response to membrane depolarization
BPIMPGO:0097051establishment of protein localization to endoplasmic reticulum membrane
BPIMPGO:1903061positive regulation of protein lipidation
BPISSGO:1903233regulation of calcium ion-dependent exocytosis of neurotransmitter
BPIMPGO:1903373positive regulation of endoplasmic reticulum tubular network organization
BPIMPGO:2000786positive regulation of autophagosome assembly
MFTASGO:0005085guanyl-nucleotide exchange factor activity
MFIBAGO:0005096GTPase activator activity
MFIDAGO:0005096GTPase activator activity
MFIMPGO:0005096GTPase activator activity
MFIPIGO:0005515protein binding
MFIMPGO:0017112Rab guanyl-nucleotide exchange factor activity
MFIPIGO:0017137Rab GTPase binding

Gene expression in normal tissue: RAB3GAP1

Gene-model tissue-cancer distribution: Bubble Plot

Gene-drug pathway distribution

Pathways in RAB3GAP1

DatabasePathway IDPathway Des.
reactomeR-HSA-199991Membrane Trafficking
reactomeR-HSA-5653656Vesicle-mediated transport
reactomeR-HSA-6811436COPI-independent Golgi-to-ER retrograde traffic
reactomeR-HSA-6811442Intra-Golgi and retrograde Golgi-to-ER traffic
reactomeR-HSA-8856688Golgi-to-ER retrograde transport
reactomeR-HSA-8876198RAB GEFs exchange GTP for GDP on RABs
reactomeR-HSA-9007101Rab regulation of trafficking

Gene-Drug: Aster Plot

Drug IDDrug NameModel Num.

Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in RAB3GAP1