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RAB3GAP1
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. Belongs to the Rab3-GAP catalytic subunit family. Ubiquitous. 3 alternatively spliced human isoforms have been reported. Note: This description may include information from UniProtKB.
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| Chromosomal Location of human Ortholog: 2q21.3 |
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Cellular Component:
cytosol; endoplasmic reticulum membrane; endoplasmic reticulum tubular network; Golgi apparatus; lipid droplet; postsynapse; protein-containing complex
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Molecular Function:
GTPase activator activity; guanyl-nucleotide exchange factor activity; protein binding; small GTPase binding
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Biological Process:
brain development; camera-type eye development; establishment of protein localization to endoplasmic reticulum membrane; excitatory postsynaptic potential; face morphogenesis; hypothalamus development; lipid droplet organization; positive regulation of autophagosome assembly; positive regulation of endoplasmic reticulum tubular network organization; positive regulation of glutamate neurotransmitter secretion in response to membrane depolarization; positive regulation of GTPase activity; positive regulation of protein lipidation; regulation of calcium ion-dependent exocytosis of neurotransmitter; regulation of GTPase activity; regulation of short-term neuronal synaptic plasticity
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Disease: Martsolf Syndrome 2; Warburg Micro Syndrome 1
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Reference #:
Q15042
(UniProtKB)
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Alt. Names/Synonyms: DKFZp434A012; KIAA0066; P130; RAB3 GTPase activating protein catalytic subunit 1; RAB3 GTPase activating protein subunit 1 (catalytic); RAB3 GTPase-activating protein 130 kDa subunit; Rab3 GTPase-activating protein catalytic subunit; Rab3-GAP; Rab3-GAP p130; RAB3GAP; RAB3GAP1; RAB3GAP130; RB3GP; WARBM1
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Gene Symbols: RAB3GAP1
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Molecular weight:
110,524 Da
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Basal Isoelectric point:
5.38
Predict pI for various phosphorylation states
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