RAB3GAP1

RAB3GAP1
Identifiers
Aliases	RAB3GAP1 , P130, RAB3GAP, RAB3GAP130, WARBM1, RAB3 GTPase activating protein catalytic subunit 1, MARTS2
External IDs	OMIM: 602536 MGI: 2445001 HomoloGene: 45617 GeneCards: RAB3GAP1
Gene location (Human) Chr. Chromosome 2 (human) [1] Band 2q21.3 Start 135,052,289 bp [1] End 135,176,667 bp [1]
Gene location (Mouse) Chr. Chromosome 1 (mouse) [2] Band 1|1 E3 Start 127,796,510 bp [2] End 127,871,605 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in hair follicle Brodmann area 23 secondary oocyte endothelial cell middle temporal gyrus visceral pleura tibia parietal pleura entorhinal cortex parietal lobe Top expressed in interventricular septum ventromedial nucleus morula visual cortex mammillary body median eminence otolith organ utricle paraventricular nucleus of hypothalamus arcuate nucleus More reference expression data BioGPS More reference expression data
Gene ontology Molecular function guanyl-nucleotide exchange factor activity GTPase activator activity protein binding Cellular component cytoplasm Golgi apparatus lipid droplet endoplasmic reticulum tubular network extracellular exosome endoplasmic reticulum membrane postsynapse cytosol protein-containing complex Biological process positive regulation of autophagosome assembly lipid droplet organization regulation of GTPase activity positive regulation of protein lipidation brain development positive regulation of gene expression positive regulation of endoplasmic reticulum tubular network organization hypothalamus development establishment of protein localization to endoplasmic reticulum membrane camera-type eye development face morphogenesis positive regulation of GTPase activity positive regulation of glutamate neurotransmitter secretion in response to membrane depolarization excitatory postsynaptic potential regulation of short-term neuronal synaptic plasticity regulation of calcium ion-dependent exocytosis of neurotransmitter Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 22930 226407 Ensembl ENSG00000115839 ENSMUSG00000036104 UniProt Q15042 Q80UJ7 RefSeq (mRNA) NM_001172435 NM_012233 NM_178690 RefSeq (protein) NP_001165906 NP_036365 NP_848805 NP_001389242 Location (UCSC) Chr 2: 135.05 – 135.18 Mb Chr 1: 127.8 – 127.87 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Rab3 GTPase-activating protein catalytic subunit is an enzyme that in humans is encoded by the RAB3GAP1 gene. ^{[5] [6] [7]}

Function

Members of the RAB3 protein family (see RAB3A; MIM 179490) are implicated in regulated exocytosis of neurotransmitters and hormones. RAB3GAP, which is involved in regulation of RAB3 activity, is a heterodimeric complex consisting a 130-kD catalytic subunit and a 150-kD noncatalytic subunit (MIM 609275). RAB3GAP specifically converts active RAB3-GTP to the inactive form RAB3-GDP (Aligianis et al., 2005).[supplied by OMIM] ^[7] RAB3GAP is reported to modulate basal and rapamycin-induced autophagy in human fibroblasts and C. elegans. ^[8] Further, the RAB3GAP1 knockdown has shown to affect the autophagy and mineralization potential of human primary osteoblasts. ^[9]

See also

• Warburg Micro syndrome
• RAB3GAP2 - the 150-kD noncatalytic subunit of RAB3GAP complex
• Tbc domain

References

1. GRCh38: Ensembl release 89: ENSG00000115839 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000036104 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Fukui K, Sasaki T, Imazumi K, Matsuura Y, Nakanishi H, Takai Y (Feb 1997). "Isolation and characterization of a GTPase activating protein specific for the Rab3 subfamily of small G proteins". The Journal of Biological Chemistry. 272 (8): 4655–4658. doi: 10.1074/jbc.272.8.4655 . PMID   9030515.
6. Aligianis IA, Johnson CA, Gissen P, Chen D, Hampshire D, Hoffmann K, Maina EN, Morgan NV, Tee L, Morton J, Ainsworth JR, Horn D, Rosser E, Cole TR, Stolte-Dijkstra I, Fieggen K, Clayton-Smith J, Mégarbané A, Shield JP, Newbury-Ecob R, Dobyns WB, Graham JM, Kjaer KW, Warburg M, Bond J, Trembath RC, Harris LW, Takai Y, Mundlos S, Tannahill D, Woods CG, Maher ER (Mar 2005). "Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome". Nature Genetics. 37 (3): 221–223. doi:10.1038/ng1517. PMID   15696165. S2CID   7561087.
7. "Entrez Gene: RAB3GAP1 RAB3 GTPase activating protein subunit 1 (catalytic)".
8. Spang, Natalie; Feldmann, Anne; Huesmann, Heike; Bekbulat, Fazilet; Schmitt, Verena; Hiebel, Christof; Koziollek-Drechsler, Ingrid; Clement, Albrecht M; Moosmann, Bernd; Jung, Jennifer; Behrends, Christian; Dikic, Ivan; Kern, Andreas; Behl, Christian (12 December 2014). "RAB3GAP1 and RAB3GAP2 modulate basal and rapamycin-induced autophagy". Autophagy. 10 (12): 2297–2309. doi:10.4161/15548627.2014.994359. PMC   4502700 . PMID   25495476.
9. Gavali, Shubhangi; Gupta, Manoj Kumar; Daswani, Bhavna; Wani, Mohan R.; Sirdeshmukh, Ravi; Khatkhatay, M. Ikram (September 2019). "Estrogen enhances human osteoblast survival and function via promotion of autophagy". Biochimica et Biophysica Acta (BBA) - Molecular Cell Research. 1866 (9): 1498–1507. doi: 10.1016/j.bbamcr.2019.06.014 . PMID   31255720.

Further reading

• Nomura N, Nagase T, Miyajima N, Sazuka T, Tanaka A, Sato S, Seki N, Kawarabayasi Y, Ishikawa K, Tabata S (1995). "Prediction of the coding sequences of unidentified human genes. II. The coding sequences of 40 new genes (KIAA0041-KIAA0080) deduced by analysis of cDNA clones from human cell line KG-1". DNA Research. 1 (5): 223–229. doi: 10.1093/dnares/1.5.223 . PMID   7584044.
• Warburg, Mette; Sjö, O; Fledelius, HC; Pedersen, SA (1 December 1993). "Autosomal Recesssive Microcephaly, Microcornea, Congenital Cataract, Mental Retardation, Optic Atrophy, and Hypogenitalism". American Journal of Diseases of Children. 147 (12): 1309–12. doi:10.1001/archpedi.1993.02160360051017. PMID   8249951.
• Nagano F, Sasaki T, Fukui K, Asakura T, Imazumi K, Takai Y (Sep 1998). "Molecular cloning and characterization of the noncatalytic subunit of the Rab3 subfamily-specific GTPase-activating protein". The Journal of Biological Chemistry. 273 (38): 24781–24785. doi: 10.1074/jbc.273.38.24781 . PMID   9733780.
• Oishi, Hideto; Sasaki, Takuya; Nagano, Fumiko; Ikeda, Wataru; Ohya, Takeshi; Wada, Manabu; Ide, Nobuyuki; Nakanishi, Hiroyuki; Takai, Yoshimi (18 December 1998). "Localization of the Rab3 Small G Protein Regulators in Nerve Terminals and Their Involvement in Ca2+-dependent Exocytosis". Journal of Biological Chemistry. 273 (51): 34580–34585. doi: 10.1074/jbc.273.51.34580 . PMID   9852129.
• Rodríguez Criado G, Rufo M, Gómez de Terreros I (Oct 1999). "A second family with Micro syndrome". Clinical Dysmorphology. 8 (4): 241–245. doi:10.1097/00019605-199910000-00002. PMID   10532171.
• Clabecq A, Henry JP, Darchen F (Oct 2000). "Biochemical characterization of Rab3-GTPase-activating protein reveals a mechanism similar to that of Ras-GAP". The Journal of Biological Chemistry. 275 (41): 31786–31791. doi: 10.1074/jbc.M003705200 . PMID   10859313.
• Kawabe, Hiroshi; Sakisaka, Toshiaki; Yasumi, Masato; Shingai, Tatsushi; Izumi, Genkichi; Nagano, Fumiko; Deguchi-Tawarada, Maki; Takeuchi, Masakazu; Nakanishi, Hiroyuki; Takai, Yoshimi (June 2003). "A novel rabconnectin-3-binding protein that directly binds a GDP/GTP exchange protein for Rab3A small G protein implicated in Ca2+-dependent exocytosis of neurotransmitter". Genes to Cells. 8 (6): 537–546. doi: 10.1046/j.1365-2443.2003.00655.x . PMID   12786944. S2CID   24111116.
• Cheviet, Séverine; Coppola, Thierry; Haynes, Lee P.; Burgoyne, Robert D.; Regazzi, Romano (1 January 2004). "The Rab-Binding Protein Noc2 Is Associated with Insulin-Containing Secretory Granules and Is Essential for Pancreatic β-Cell Exocytosis". Molecular Endocrinology. 18 (1): 117–126. doi: 10.1210/me.2003-0300 . PMID   14593078.
• Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, Mann M (Nov 2006). "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks". Cell. 127 (3): 635–648. doi: 10.1016/j.cell.2006.09.026 . PMID   17081983. S2CID   7827573.
• Tsuritani K, Irie T, Yamashita R, Sakakibara Y, Wakaguri H, Kanai A, Mizushima-Sugano J, Sugano S, Nakai K, Suzuki Y (Jul 2007). "Distinct class of putative "non-conserved" promoters in humans: comparative studies of alternative promoters of human and mouse genes". Genome Research. 17 (7): 1005–1014. doi:10.1101/gr.6030107. PMC   1899111 . PMID   17567985.