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RAB3GAP1

{{Short description|Protein-coding gene in the species Homo sapiens}}

{{Infobox_gene}}

Rab3 GTPase-activating protein catalytic subunit is an enzyme that in humans is encoded by the RAB3GAP1 gene.{{cite journal | vauthors = Fukui K, Sasaki T, Imazumi K, Matsuura Y, Nakanishi H, Takai Y | title = Isolation and characterization of a GTPase activating protein specific for the Rab3 subfamily of small G proteins | journal = The Journal of Biological Chemistry | volume = 272 | issue = 8 | pages = 4655–4658 | date = Feb 1997 | pmid = 9030515 | doi = 10.1074/jbc.272.8.4655 | doi-access = free }}{{cite journal | vauthors = 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 | title = Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome | journal = Nature Genetics | volume = 37 | issue = 3 | pages = 221–223 | date = Mar 2005 | pmid = 15696165 | doi = 10.1038/ng1517 | s2cid = 7561087 }}{{cite web | title = Entrez Gene: RAB3GAP1 RAB3 GTPase activating protein subunit 1 (catalytic)| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=22930}}

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] RAB3GAP is reported to modulate basal and rapamycin-induced autophagy in human fibroblasts and C. elegans.{{cite journal |last1=Spang |first1=Natalie |last2=Feldmann |first2=Anne |last3=Huesmann |first3=Heike |last4=Bekbulat |first4=Fazilet |last5=Schmitt |first5=Verena |last6=Hiebel |first6=Christof |last7=Koziollek-Drechsler |first7=Ingrid |last8=Clement |first8=Albrecht M |last9=Moosmann |first9=Bernd |last10=Jung |first10=Jennifer |last11=Behrends |first11=Christian |last12=Dikic |first12=Ivan |last13=Kern |first13=Andreas |last14=Behl |first14=Christian |title=RAB3GAP1 and RAB3GAP2 modulate basal and rapamycin-induced autophagy |journal=Autophagy |date=12 December 2014 |volume=10 |issue=12 |pages=2297–2309 |doi=10.4161/15548627.2014.994359 |pmid=25495476 |pmc=4502700 }} Further, the RAB3GAP1 knockdown has shown to affect the autophagy and mineralization potential of human primary osteoblasts.{{cite journal |last1=Gavali |first1=Shubhangi |last2=Gupta |first2=Manoj Kumar |last3=Daswani |first3=Bhavna |last4=Wani |first4=Mohan R. |last5=Sirdeshmukh |first5=Ravi |last6=Khatkhatay |first6=M. Ikram |title=Estrogen enhances human osteoblast survival and function via promotion of autophagy |journal=Biochimica et Biophysica Acta (BBA) - Molecular Cell Research |date=September 2019 |volume=1866 |issue=9 |pages=1498–1507 |doi=10.1016/j.bbamcr.2019.06.014 |pmid=31255720 |doi-access=free }}

See also

References

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Further reading

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  • {{cite journal | vauthors = Nomura N, Nagase T, Miyajima N, Sazuka T, Tanaka A, Sato S, Seki N, Kawarabayasi Y, Ishikawa K, Tabata S | title = 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 | journal = DNA Research | volume = 1 | issue = 5 | pages = 223–229 | year = 1995 | pmid = 7584044 | doi = 10.1093/dnares/1.5.223 | doi-access = free }}
  • {{cite journal |last1=Warburg |first1=Mette |last2=Sjö |first2=O |last3=Fledelius |first3=HC |last4=Pedersen |first4=SA |title=Autosomal Recesssive Microcephaly, Microcornea, Congenital Cataract, Mental Retardation, Optic Atrophy, and Hypogenitalism |journal=American Journal of Diseases of Children |date=1 December 1993 |volume=147 |issue=12 |pages=1309–12 |doi=10.1001/archpedi.1993.02160360051017 |pmid=8249951 }}
  • {{cite journal | vauthors = Nagano F, Sasaki T, Fukui K, Asakura T, Imazumi K, Takai Y | title = Molecular cloning and characterization of the noncatalytic subunit of the Rab3 subfamily-specific GTPase-activating protein | journal = The Journal of Biological Chemistry | volume = 273 | issue = 38 | pages = 24781–24785 | date = Sep 1998 | pmid = 9733780 | doi = 10.1074/jbc.273.38.24781 | doi-access = free }}
  • {{cite journal |last1=Oishi |first1=Hideto |last2=Sasaki |first2=Takuya |last3=Nagano |first3=Fumiko |last4=Ikeda |first4=Wataru |last5=Ohya |first5=Takeshi |last6=Wada |first6=Manabu |last7=Ide |first7=Nobuyuki |last8=Nakanishi |first8=Hiroyuki |last9=Takai |first9=Yoshimi |title=Localization of the Rab3 Small G Protein Regulators in Nerve Terminals and Their Involvement in Ca2+-dependent Exocytosis |journal=Journal of Biological Chemistry |date=18 December 1998 |volume=273 |issue=51 |pages=34580–34585 |doi=10.1074/jbc.273.51.34580 |pmid=9852129 |doi-access=free }}
  • {{cite journal | vauthors = Rodríguez Criado G, Rufo M, Gómez de Terreros I | title = A second family with Micro syndrome | journal = Clinical Dysmorphology | volume = 8 | issue = 4 | pages = 241–245 | date = Oct 1999 | pmid = 10532171 | doi = 10.1097/00019605-199910000-00002 }}
  • {{cite journal | vauthors = Clabecq A, Henry JP, Darchen F | title = Biochemical characterization of Rab3-GTPase-activating protein reveals a mechanism similar to that of Ras-GAP | journal = The Journal of Biological Chemistry | volume = 275 | issue = 41 | pages = 31786–31791 | date = Oct 2000 | pmid = 10859313 | doi = 10.1074/jbc.M003705200 | doi-access = free }}
  • {{cite journal |last1=Kawabe |first1=Hiroshi |last2=Sakisaka |first2=Toshiaki |last3=Yasumi |first3=Masato |last4=Shingai |first4=Tatsushi |last5=Izumi |first5=Genkichi |last6=Nagano |first6=Fumiko |last7=Deguchi-Tawarada |first7=Maki |last8=Takeuchi |first8=Masakazu |last9=Nakanishi |first9=Hiroyuki |last10=Takai |first10=Yoshimi |title=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 |journal=Genes to Cells |date=June 2003 |volume=8 |issue=6 |pages=537–546 |doi=10.1046/j.1365-2443.2003.00655.x |pmid=12786944 |s2cid=24111116 |doi-access=free }}
  • {{cite journal |last1=Cheviet |first1=Séverine |last2=Coppola |first2=Thierry |last3=Haynes |first3=Lee P. |last4=Burgoyne |first4=Robert D. |last5=Regazzi |first5=Romano |title=The Rab-Binding Protein Noc2 Is Associated with Insulin-Containing Secretory Granules and Is Essential for Pancreatic β-Cell Exocytosis |journal=Molecular Endocrinology |date=1 January 2004 |volume=18 |issue=1 |pages=117–126 |doi=10.1210/me.2003-0300 |pmid=14593078 |doi-access=free }}
  • {{cite journal | vauthors = Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, Mann M | title = Global, in vivo, and site-specific phosphorylation dynamics in signaling networks | journal = Cell | volume = 127 | issue = 3 | pages = 635–648 | date = Nov 2006 | pmid = 17081983 | doi = 10.1016/j.cell.2006.09.026 | s2cid = 7827573 | doi-access = free }}
  • {{cite journal | vauthors = Tsuritani K, Irie T, Yamashita R, Sakakibara Y, Wakaguri H, Kanai A, Mizushima-Sugano J, Sugano S, Nakai K, Suzuki Y | title = Distinct class of putative "non-conserved" promoters in humans: comparative studies of alternative promoters of human and mouse genes | journal = Genome Research | volume = 17 | issue = 7 | pages = 1005–1014 | date = Jul 2007 | pmid = 17567985 | pmc = 1899111 | doi = 10.1101/gr.6030107 }}

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