======= RAB3GAP1 =======
== Gene Information ==
* **Official Symbol**: RAB3GAP1
* **Official Name**: RAB3 GTPase activating protein catalytic subunit 1
* **Aliases and Previous Symbols**: N/A
* **Entrez ID**: [[https://www.ncbi.nlm.nih.gov/gene/?term=22930|22930]]
* **UniProt**: [[https://www.uniprot.org/uniprot/Q15042|Q15042]]
* **Interactions**: [[https://thebiogrid.org/search.php?search=RAB3GAP1&organism=9606|BioGRID]]
* **PubMed articles**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20RAB3GAP1|Open PubMed]]
* **OMIM**: [[https://omim.org/entry/602536|Open OMIM]]
== Function Summary ==
* **Entrez 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].
* **UniProt Summary**: 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. {ECO:0000269|PubMed:10859313, ECO:0000269|PubMed:9030515}.
No Pfam Domain information is available for this gene.
|positive regulation of glutamate neurotransmitter secretion in response to membrane depolarization|
|establishment of protein localization to endoplasmic reticulum membrane|
|positive regulation of glutamate secretion, neurotransmission|
|regulation of glutamate secretion, neurotransmission|
|regulation of calcium ion-dependent exocytosis of neurotransmitter|
|positive regulation of endoplasmic reticulum tubular network organization|
|positive regulation of protein lipidation|
|regulation of endoplasmic reticulum tubular network organization|
|positive regulation of lipoprotein metabolic process|
|regulation of protein lipidation|
|positive regulation of glutamate secretion|
|positive regulation of autophagosome assembly|
|endoplasmic reticulum tubular network|
|regulation of lipoprotein metabolic process|
|positive regulation of vacuole organization|
|regulation of short-term neuronal synaptic plasticity|
|regulation of glutamate secretion|
|positive regulation of amino acid transport|
|positive regulation of neurotransmitter secretion|
|lipid droplet organization|
|hypothalamus development|
|regulation of amino acid transport|
|positive regulation of synaptic transmission, glutamatergic|
|face morphogenesis|
|positive regulation of organic acid transport|
|regulation of autophagosome assembly|
|positive regulation of amine transport|
|head morphogenesis|
|positive regulation of neurotransmitter transport|
|Rab guanyl-nucleotide exchange factor activity|
|regulation of vacuole organization|
|regulation of calcium ion-dependent exocytosis|
|body morphogenesis|
|face development|
|positive regulation of anion transport|
|regulation of neuronal synaptic plasticity|
|regulation of organic acid transport|
|excitatory postsynaptic potential|
|chemical synaptic transmission, postsynaptic|
|positive regulation of macroautophagy|
|regulation of synaptic transmission, glutamatergic|
|positive regulation of organelle assembly|
|diencephalon development|
|regulation of synaptic vesicle exocytosis|
|lipid droplet|
|postsynapse|
|regulation of amine transport|
|regulation of anion transport|
|regulation of postsynaptic membrane potential|
|guanyl-nucleotide exchange factor activity|
|regulation of neurotransmitter secretion|
|limbic system development|
|regulation of synaptic vesicle cycle|
|establishment of protein localization to endoplasmic reticulum|
|positive regulation of autophagy|
|protein localization to endoplasmic reticulum|
|regulation of neurotransmitter transport|
|Rab GTPase binding|
|positive regulation of synaptic transmission|
|regulation of regulated secretory pathway|
|regulation of macroautophagy|
|regulation of synaptic plasticity|
|regulation of organelle assembly|
|regulation of exocytosis|
|establishment of protein localization to membrane|
|positive regulation of ion transport|
|GTPase activator activity|
|camera-type eye development|
|regulation of autophagy|
|regulation of neurotransmitter levels|
|eye development|
|visual system development|
|positive regulation of cellular catabolic process|
|sensory system development|
|forebrain development|
|positive regulation of secretion by cell|
|positive regulation of GTPase activity|
|anterograde trans-synaptic signaling|
|chemical synaptic transmission|
|cell surface receptor signaling pathway involved in cell-cell signaling|
|regulation of membrane potential|
|establishment of protein localization to organelle|
|positive regulation of catabolic process|
|positive regulation of secretion|
|trans-synaptic signaling|
|modulation of chemical synaptic transmission|
|regulation of trans-synaptic signaling|
|synaptic signaling|
|protein localization to membrane|
|regulation of GTPase activity|
|positive regulation of cellular component biogenesis|
|sensory organ development|
|regulation of vesicle-mediated transport|
|protein-containing complex|
|positive regulation of organelle organization|
|regulation of ion transport|
|protein localization to organelle|
|brain development|
|regulation of secretion by cell|
|positive regulation of hydrolase activity|
|head development|
|regulation of secretion|
|regulation of cellular catabolic process|
|regulation of cellular localization|
|endoplasmic reticulum membrane|
|regulation of cellular component biogenesis|
|central nervous system development|
|Golgi apparatus|
|positive regulation of transport|
|regulation of catabolic process|
|cell-cell signaling|
|positive regulation of cellular component organization|
|positive regulation of protein modification process|
|regulation of hydrolase activity|
|regulation of organelle organization|
|nervous system process|
|positive regulation of catalytic activity|
|cellular protein localization|
|cellular macromolecule localization|
|positive regulation of cellular protein metabolic process|
|establishment of protein localization|
|positive regulation of protein metabolic process|
|positive regulation of molecular function|
|positive regulation of cell communication|
|positive regulation of signaling|
|regulation of protein modification process|
|regulation of transport|
|positive regulation of macromolecule biosynthetic process|
|system process|
|positive regulation of cellular biosynthetic process|
|positive regulation of gene expression|
|positive regulation of biosynthetic process|
\\
=== CRISPR Data ===
^Screen^Score^
|[[:results:exp122|Golgicide-A 4μM R03 exp122]]|-2.22|
|[[:results:exp26|Oligomycin-A 20μM R00 exp26]]|-2.1|
|[[:results:exp434|Vemurafenib 6.6μM R08 exp434]]|-1.82|
|[[:results:exp141|Nifurtimox 1μM R03 exp141]]|1.78|
|[[:results:exp35|TRAIL 5ng/ml R00 exp35]]|1.96|
|[[:results:exp136|MS094 2μM R03 exp136]]|2.11|
|[[:results:exp36|TRAIL 50ng/ml R00 exp36]]|2.11|
|[[:results:exp423|Zebularine 20μM R07 exp423]]|2.28|
No correlation found to any other genes in chemogenomics.
Global Fraction of Cell Lines Where Essential: 0/739
^Tissue^Fraction Of Cell Lines Where Essential^
|1290807.0|0/1|
|909776.0|0/1|
|bile duct|0/28|
|blood|0/28|
|bone|0/26|
|breast|0/33|
|central nervous system|0/56|
|cervix|0/4|
|colorectal|0/17|
|esophagus|0/13|
|fibroblast|0/1|
|gastric|0/16|
|kidney|0/21|
|liver|0/20|
|lung|0/75|
|lymphocyte|0/16|
|ovary|0/26|
|pancreas|0/24|
|peripheral nervous system|0/16|
|plasma cell|0/15|
|prostate|0/1|
|skin|0/24|
|soft tissue|0/9|
|thyroid|0/2|
|upper aerodigestive|0/22|
|urinary tract|0/29|
|uterus|0/5|
== Essentiality in NALM6 ==
* **Essentiality Rank**: 5498
* **Expression level (log2 read counts)**: 6.59
{{:chemogenomics:nalm6 dist.png?nolink |}}