RAB3GAP1 Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | RAB3GAP1 |
| Official Name | RAB3 GTPase activating protein catalytic subunit 1 [Source:HGNC Symbol;Acc:HGNC:17063] |
| Ensembl ID | ENSG00000115839 |
| Bio databases IDs | |
| Aliases | RAB3 GTPase activating protein catalytic subunit 1 |
| Synonyms | 1700003B17Rik, 4732493F09Rik, LOC501853, MARTS2, P130, RAB3GAP, RAB3GAP130, rab3-GAP p130, RAB3 GTPase activating protein catalytic subunit 1, RAB3 GTPase activating protein subunit 1, RGD1306487, WARBM1 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human RAB3GAP1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- guanyl-nucleotide exchange factor
- enzyme binding
- GTPase activator
- protein binding
- Rab3 GTPase-activating protein catalytic subunit
- Rab3 GTPase-activating protein catalytic subunit C-terminal
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- COVID-19
- Warburg Micro syndrome type 1
- hereditary disorder
- Warburg Micro syndrome
- Martsolf syndrome type 2
- polymicrogyria
regulates
- RAB18
- neurotransmitter
- GTPase
- hormone
role in cell
- disruption
- organization
- assembly
- disruption in
- paired-pulse facilitation
- priming
- spreading
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- endoplasmic reticulum tubules
- Golgi Apparatus
- lipid droplets
- cytosol
- endoplasmic reticulum membrane
- cis Golgi networks
- transport vesicles
- excitatory synapses
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human RAB3GAP1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- regulation of excitatory postsynaptic membrane potential
- camera-type eye development
- regulation of GTPase activity
- positive regulation of autophagic vacuole assembly
- lipid particle organization
- hypothalamus development
- brain development
- regulation of short-term neuronal synaptic plasticity
- establishment of protein localization in endoplasmic reticulum membrane
- positive regulation of GTPase activity
- face morphogenesis
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum membrane
- lipid particle
- extracellular vesicular exosome
- endoplasmic reticulum tubular network
- cytosol
- Golgi apparatus
- macromolecular complex
Molecular Function
What the gene product does at the molecular level
- protein binding
- GTPase activator activity
- guanyl-nucleotide exchange factor activity
- small GTPase binding