RAB3GAP1
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].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| RAB3 GTPase activating protein catalytic subunit 1 | MIM:602536 | Ensembl:ENSG00000115839 | HGNC:HGNC:17063 | PA134969639 | 2q21.3 |
GO terms in RAB3GAP1
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| CC | TAS | GO:0005789 | endoplasmic reticulum membrane |
| CC | IDA | GO:0005794 | Golgi apparatus |
| CC | IDA | GO:0005811 | lipid droplet |
| CC | TAS | GO:0005829 | cytosol |
| CC | IDA | GO:0032991 | protein-containing complex |
| CC | HDA | GO:0070062 | extracellular exosome |
| CC | IDA | GO:0071782 | endoplasmic reticulum tubular network |
| CC | IEA | GO:0098794 | postsynapse |
| BP | IMP | GO:0007420 | brain development |
| BP | IEA | GO:0010628 | positive regulation of gene expression |
| BP | IMP | GO:0021854 | hypothalamus development |
| BP | IMP | GO:0034389 | lipid particle organization |
| BP | IMP | GO:0043010 | camera-type eye development |
| BP | IDA | GO:0043087 | regulation of GTPase activity |
| BP | IBA | GO:0043547 | positive regulation of GTPase activity |
| BP | IMP | GO:0043547 | positive regulation of GTPase activity |
| BP | ISS | GO:0043547 | positive regulation of GTPase activity |
| BP | ISS | GO:0048172 | regulation of short-term neuronal synaptic plasticity |
| BP | ISS | GO:0060079 | excitatory postsynaptic potential |
| BP | IMP | GO:0060325 | face morphogenesis |
| BP | ISS | GO:0061646 | positive regulation of glutamate neurotransmitter secretion in response to membrane depolarization |
| BP | IMP | GO:0097051 | establishment of protein localization to endoplasmic reticulum membrane |
| BP | IMP | GO:1903061 | positive regulation of protein lipidation |
| BP | ISS | GO:1903233 | regulation of calcium ion-dependent exocytosis of neurotransmitter |
| BP | IMP | GO:1903373 | positive regulation of endoplasmic reticulum tubular network organization |
| BP | IMP | GO:2000786 | positive regulation of autophagosome assembly |
| MF | TAS | GO:0005085 | guanyl-nucleotide exchange factor activity |
| MF | IBA | GO:0005096 | GTPase activator activity |
| MF | IDA | GO:0005096 | GTPase activator activity |
| MF | IMP | GO:0005096 | GTPase activator activity |
| MF | IPI | GO:0005515 | protein binding |
| MF | IMP | GO:0017112 | Rab guanyl-nucleotide exchange factor activity |
| MF | IPI | GO:0017137 | Rab GTPase binding |
Gene expression in normal tissue: RAB3GAP1
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in RAB3GAP1
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-199991 | Membrane Trafficking |
| reactome | R-HSA-5653656 | Vesicle-mediated transport |
| reactome | R-HSA-6811436 | COPI-independent Golgi-to-ER retrograde traffic |
| reactome | R-HSA-6811442 | Intra-Golgi and retrograde Golgi-to-ER traffic |
| reactome | R-HSA-8856688 | Golgi-to-ER retrograde transport |
| reactome | R-HSA-8876198 | RAB GEFs exchange GTP for GDP on RABs |
| reactome | R-HSA-9007101 | Rab regulation of trafficking |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in RAB3GAP1
CLASSFICATION
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