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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
RAB3 GTPase activating protein catalytic subunit 1
Protein classi
Assigned HPA protein class(es) for the encoded protein(s).
Disease related genes Human disease related genes
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
2
Cytoband
q21.3
Chromosome location (bp)
135052289 - 135176667
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Catalytic subunit of the Rab3 GTPase-activating (Rab3GAP) complex composed of RAB3GAP1 and RAB3GAP2, which has GTPase-activating protein (GAP) activity towards various Rab3 subfamily members (RAB3A, RAB3B, RAB3C and RAB3D), RAB5A and RAB43, and guanine nucleotide exchange factor (GEF) activity towards RAB18 1,2,3. As part of the Rab3GAP complex, acts as a GAP for Rab3 proteins by converting active RAB3-GTP to the inactive form RAB3-GDP 4. Rab3 proteins are involved in regulated exocytosis of neurotransmitters and hormones 5. The Rab3GAP complex, acts as a GEF for RAB18 by promoting the conversion of inactive RAB18-GDP to the active form RAB18-GTP 6. Required for recruiting and activating RAB18 at the endoplasmic reticulum (ER) membrane where it maintains proper ER structure 7. Required for normal eye and brain development 8,9. May participate in neurodevelopmental processes such as proliferation, migration and differentiation before synapse formation, and non-synaptic vesicular release of neurotransmitters 10,11....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
GTPase activation
Gene summary (Entrez)i
Useful information about the gene from Entrez
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]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Q15042 [Direct mapping] Rab3 GTPase-activating protein catalytic subunit
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B9A6J2 [Target identity:100%; Query identity:100%] Rab3 GTPase-activating protein catalytic subunit
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Human disease related genes Congenital malformations Congenital malformations of the nervous system Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0005085[guanyl-nucleotide exchange factor activity] GO:0005096[GTPase activator activity] GO:0005515[protein binding] GO:0005737[cytoplasm] GO:0005783[endoplasmic reticulum] GO:0005789[endoplasmic reticulum membrane] GO:0005794[Golgi apparatus] GO:0005811[lipid droplet] GO:0005829[cytosol] GO:0007420[brain development] GO:0021854[hypothalamus development] GO:0031267[small GTPase binding] GO:0032991[protein-containing complex] GO:0034389[lipid droplet organization] GO:0043010[camera-type eye development] GO:0043087[regulation of GTPase activity] GO:0043547[positive regulation of GTPase activity] GO:0048172[regulation of short-term neuronal synaptic plasticity] GO:0060079[excitatory postsynaptic potential] GO:0060325[face morphogenesis] GO:0061646[positive regulation of glutamate neurotransmitter secretion in response to membrane depolarization] GO:0070062[extracellular exosome] GO:0071782[endoplasmic reticulum tubular network] GO:0097051[establishment of protein localization to endoplasmic reticulum membrane] GO:0098794[postsynapse] GO:1903061[positive regulation of protein lipidation] GO:1903233[regulation of calcium ion-dependent exocytosis of neurotransmitter] GO:1903373[positive regulation of endoplasmic reticulum tubular network organization] GO:2000786[positive regulation of autophagosome assembly]
C9J1R5 [Direct mapping] Rab3 GTPase-activating protein catalytic subunit
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital malformations Congenital malformations of the nervous system Protein evidence (Ezkurdia et al 2014)
Q15042 [Direct mapping] Rab3 GTPase-activating protein catalytic subunit
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Human disease related genes Congenital malformations Congenital malformations of the nervous system Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0005085[guanyl-nucleotide exchange factor activity] GO:0005096[GTPase activator activity] GO:0005515[protein binding] GO:0005737[cytoplasm] GO:0005783[endoplasmic reticulum] GO:0005789[endoplasmic reticulum membrane] GO:0005794[Golgi apparatus] GO:0005811[lipid droplet] GO:0005829[cytosol] GO:0007420[brain development] GO:0021854[hypothalamus development] GO:0031267[small GTPase binding] GO:0032991[protein-containing complex] GO:0034389[lipid droplet organization] GO:0043010[camera-type eye development] GO:0043087[regulation of GTPase activity] GO:0043547[positive regulation of GTPase activity] GO:0048172[regulation of short-term neuronal synaptic plasticity] GO:0060079[excitatory postsynaptic potential] GO:0060325[face morphogenesis] GO:0061646[positive regulation of glutamate neurotransmitter secretion in response to membrane depolarization] GO:0070062[extracellular exosome] GO:0071782[endoplasmic reticulum tubular network] GO:0097051[establishment of protein localization to endoplasmic reticulum membrane] GO:0098794[postsynapse] GO:1903061[positive regulation of protein lipidation] GO:1903233[regulation of calcium ion-dependent exocytosis of neurotransmitter] GO:1903373[positive regulation of endoplasmic reticulum tubular network organization] GO:2000786[positive regulation of autophagosome assembly]
A0A8I5KT44 [Direct mapping] Rab3 GTPase-activating protein catalytic subunit
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital malformations Congenital malformations of the nervous system Protein evidence (Ezkurdia et al 2014)
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GO:0005096[GTPase activator activity] GO:0043547[positive regulation of GTPase activity]
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