RAB3GAP1: Difference between revisions

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<!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. -->
{{Infobox_gene}}
{{PBB_Controls
'''Rab3 GTPase-activating protein catalytic subunit''' is an [[enzyme]] that in humans is encoded by the ''RAB3GAP1'' [[gene]].<ref name="pmid9030515">{{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 = 4655–8 | date = Feb 1997 | pmid = 9030515 | pmc =  | doi = 10.1074/jbc.272.8.4655 }}</ref><ref name="pmid15696165">{{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 = 221–3 | date = Mar 2005 | pmid = 15696165 | pmc =  | doi = 10.1038/ng1517 }}</ref><ref name="entrez">{{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| accessdate = }}</ref>
| update_page = yes
| require_manual_inspection = no
| update_protein_box = yes
| update_summary = yes
| update_citations = yes
}}


<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
== Function ==
{{GNF_Protein_box
| image =
| image_source =
| PDB =
| Name = RAB3 GTPase activating protein subunit 1 (catalytic)
| HGNCid = 17063
| Symbol = RAB3GAP1
| AltSymbols =; P130; DKFZp434A012; KIAA0066; RAB3GAP; RAB3GAP130; WARBM1
| OMIM = 602536
| ECnumber = 
| Homologene = 45617
| MGIid = 2445001
| GeneAtlas_image1 = PBB_GE_RAB3GAP1_212932_at_tn.png
| GeneAtlas_image2 = PBB_GE_RAB3GAP1_213530_at_tn.png
| GeneAtlas_image3 = PBB_GE_RAB3GAP1_213531_s_at_tn.png
| Function = {{GNF_GO|id=GO:0005096 |text = GTPase activator activity}} {{GNF_GO|id=GO:0005097 |text = Rab GTPase activator activity}} {{GNF_GO|id=GO:0017137 |text = Rab GTPase binding}}
| Component = {{GNF_GO|id=GO:0005625 |text = soluble fraction}}
| Process = {{GNF_GO|id=GO:0043087 |text = regulation of GTPase activity}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 22930
    | Hs_Ensembl = ENSG00000115839
    | Hs_RefseqProtein = NP_036365
    | Hs_RefseqmRNA = NM_012233
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 2
    | Hs_GenLoc_start = 135526323
    | Hs_GenLoc_end = 135644327
    | Hs_Uniprot = Q15042
    | Mm_EntrezGene = 226407
    | Mm_Ensembl = ENSMUSG00000036104
    | Mm_RefseqmRNA = NM_178690
    | Mm_RefseqProtein = NP_848805
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 1
    | Mm_GenLoc_start = 129696332
    | Mm_GenLoc_end = 129771414
    | Mm_Uniprot = Q3TPB6
  }}
}}
'''RAB3 GTPase activating protein subunit 1 (catalytic)''', also known as '''RAB3GAP1''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: RAB3GAP1 RAB3 GTPase activating protein subunit 1 (catalytic)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=22930| accessdate = }}</ref>


<!-- The PBB_Summary template is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
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]<ref name="entrez" />
{{PBB_Summary
| section_title =
| summary_text = 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]<ref name="entrez">{{cite web | title = Entrez Gene: RAB3GAP1 RAB3 GTPase activating protein subunit 1 (catalytic)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=22930| accessdate = }}</ref>
}}


==References==
== See also ==
{{reflist|2}}
* [[Micro syndrome]]
==Further reading==
* [[RAB3GAP2]] - the 150-kD noncatalytic subunit of RAB3GAP complex
* [[Tbc domain]]
 
== References ==
{{reflist}}
 
== Further reading ==
{{refbegin | 2}}
{{refbegin | 2}}
{{PBB_Further_reading
* {{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 : An International Journal for Rapid Publication of Reports on Genes and Genomes | volume = 1 | issue = 5 | pages = 223–9 | year = 1995 | pmid = 7584044 | doi = 10.1093/dnares/1.5.223 }}
| citations =
* {{cite journal | vauthors = Warburg M, Sjö O, Fledelius HC, Pedersen SA | title = Autosomal recessive microcephaly, microcornea, congenital cataract, mental retardation, optic atrophy, and hypogenitalism. Micro syndrome | journal = American Journal of Diseases of Children (1960) | volume = 147 | issue = 12 | pages = 1309–12 | year = 1994 | date = Dec 1993 | pmid = 8249951 | doi = 10.1001/archpedi.1993.02160360051017 }}
*{{cite journal | author=Nomura N, Nagase T, Miyajima N, ''et al.'' |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 Res. |volume=1 |issue= 5 |pages= 223-9 |year= 1995 |pmid= 7584044 |doi= }}
* {{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 = 24781–5  | date = Sep 1998 | pmid = 9733780 | doi = 10.1074/jbc.273.38.24781 }}
*{{cite journal | author=Warburg M, Sjö O, Fledelius HC, Pedersen SA |title=Autosomal recessive microcephaly, microcornea, congenital cataract, mental retardation, optic atrophy, and hypogenitalism. Micro syndrome. |journal=Am. J. Dis. Child. |volume=147 |issue= 12 |pages= 1309-12 |year= 1994 |pmid= 8249951 |doi= }}
* {{cite journal | vauthors = Oishi H, Sasaki T, Nagano F, Ikeda W, Ohya T, Wada M, Ide N, Nakanishi H, Takai Y | title = Localization of the Rab3 small G protein regulators in nerve terminals and their involvement in Ca2+-dependent exocytosis | journal = The Journal of Biological Chemistry | volume = 273 | issue = 51 | pages = 34580–5 | year = 1999 | date = Dec 1998 | pmid = 9852129 | doi = 10.1074/jbc.273.51.34580 }}
*{{cite journal  | author=Fukui K, Sasaki T, Imazumi K, ''et al.'' |title=Isolation and characterization of a GTPase activating protein specific for the Rab3 subfamily of small G proteins. |journal=J. Biol. Chem. |volume=272 |issue= 8 |pages= 4655-8 |year= 1997 |pmid= 9030515 |doi=  }}
* {{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 = 241–5  | date = Oct 1999 | pmid = 10532171 | doi = 10.1097/00019605-199910000-00002 }}
*{{cite journal | author=Nagano F, Sasaki T, Fukui K, ''et al.'' |title=Molecular cloning and characterization of the noncatalytic subunit of the Rab3 subfamily-specific GTPase-activating protein. |journal=J. Biol. Chem. |volume=273 |issue= 38 |pages= 24781-5 |year= 1998 |pmid= 9733780 |doi= }}
* {{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 = 31786–91  | date = Oct 2000 | pmid = 10859313 | doi = 10.1074/jbc.M003705200 }}
*{{cite journal | author=Oishi H, Sasaki T, Nagano F, ''et al.'' |title=Localization of the Rab3 small G protein regulators in nerve terminals and their involvement in Ca2+-dependent exocytosis. |journal=J. Biol. Chem. |volume=273 |issue= 51 |pages= 34580-5 |year= 1999 |pmid= 9852129 |doi= }}
* {{cite journal | vauthors = Kawabe H, Sakisaka T, Yasumi M, Shingai T, Izumi G, Nagano F, Deguchi-Tawarada M, Takeuchi M, Nakanishi H, Takai Y | title = A novel rabconnectin-3-binding protein that directly binds a GDP/GTP exchange protein for Rab3A small G protein implicated in Ca(2+)-dependent exocytosis of neurotransmitter | journal = Genes to Cells : Devoted to Molecular & Cellular Mechanisms | volume = 8 | issue = 6 | pages = 537–46 | year = 2004 | date = Jun 2003 | pmid = 12786944 | doi = 10.1046/j.1365-2443.2003.00655.x }}
*{{cite journal | author=Rodríguez Criado G, Rufo M, Gómez de Terreros I |title=A second family with Micro syndrome. |journal=Clin. Dysmorphol. |volume=8 |issue= 4 |pages= 241-5 |year= 1999 |pmid= 10532171 |doi= }}
* {{cite journal | vauthors = Cheviet S, Coppola T, Haynes LP, Burgoyne RD, Regazzi R | title = The Rab-binding protein Noc2 is associated with insulin-containing secretory granules and is essential for pancreatic beta-cell exocytosis | journal = Molecular Endocrinology (Baltimore, Md.) | volume = 18 | issue = 1 | pages = 117–26  | date = Jan 2004 | pmid = 14593078 | doi = 10.1210/me.2003-0300 }}
*{{cite journal | author=Clabecq A, Henry JP, Darchen F |title=Biochemical characterization of Rab3-GTPase-activating protein reveals a mechanism similar to that of Ras-GAP. |journal=J. Biol. Chem. |volume=275 |issue= 41 |pages= 31786-91 |year= 2000 |pmid= 10859313 |doi= 10.1074/jbc.M003705200 }}
* {{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 = 635–48  | date = Nov 2006 | pmid = 17081983 | doi = 10.1016/j.cell.2006.09.026 }}
*{{cite journal | author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899-903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 }}
* {{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 = 1005–14  | date = Jul 2007 | pmid = 17567985 | pmc = 1899111 | doi = 10.1101/gr.6030107 }}
*{{cite journal  | author=Kawabe H, Sakisaka T, Yasumi M, ''et al.'' |title=A novel rabconnectin-3-binding protein that directly binds a GDP/GTP exchange protein for Rab3A small G protein implicated in Ca(2+)-dependent exocytosis of neurotransmitter. |journal=Genes Cells |volume=8 |issue= 6 |pages= 537-46 |year= 2004 |pmid= 12786944 |doi= }}
*{{cite journal | author=Cheviet S, Coppola T, Haynes LP, ''et al.'' |title=The Rab-binding protein Noc2 is associated with insulin-containing secretory granules and is essential for pancreatic beta-cell exocytosis. |journal=Mol. Endocrinol. |volume=18 |issue= 1 |pages= 117-26 |year= 2004 |pmid= 14593078 |doi= 10.1210/me.2003-0300 }}
*{{cite journal | author=Ota T, Suzuki Y, Nishikawa T, ''et al.'' |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40-5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 }}
*{{cite journal  | author=Gerhard DS, Wagner L, Feingold EA, ''et al.'' |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121-7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 }}
*{{cite journal  | author=Aligianis IA, Johnson CA, Gissen P, ''et al.'' |title=Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome. |journal=Nat. Genet. |volume=37 |issue= 3 |pages= 221-3 |year= 2005 |pmid= 15696165 |doi= 10.1038/ng1517 }}
*{{cite journal  | author=Olsen JV, Blagoev B, Gnad F, ''et al.'' |title=Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. |journal=Cell |volume=127 |issue= 3 |pages= 635-48 |year= 2006 |pmid= 17081983 |doi= 10.1016/j.cell.2006.09.026 }}
*{{cite journal | author=Tsuritani K, Irie T, Yamashita R, ''et al.'' |title=Distinct class of putative "non-conserved" promoters in humans: comparative studies of alternative promoters of human and mouse genes. |journal=Genome Res. |volume=17 |issue= 7 |pages= 1005-14 |year= 2007 |pmid= 17567985 |doi= 10.1101/gr.6030107 }}
}}
{{refend}}
{{refend}}


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Revision as of 02:28, 27 October 2017

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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Ensembl

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UniProt

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RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

Rab3 GTPase-activating protein catalytic subunit is an enzyme that in humans is encoded by the RAB3GAP1 gene.[1][2][3]

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][3]

See also

References

  1. ↑ 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): 4655–8. doi:10.1074/jbc.272.8.4655. PMID 9030515.
  2. ↑ 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): 221–3. doi:10.1038/ng1517. PMID 15696165.
  3. ↑ 3.0 3.1 "Entrez Gene: RAB3GAP1 RAB3 GTPase activating protein subunit 1 (catalytic)".

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 : An International Journal for Rapid Publication of Reports on Genes and Genomes. 1 (5): 223–9. doi:10.1093/dnares/1.5.223. PMID 7584044.
  • Warburg M, Sjö O, Fledelius HC, Pedersen SA (Dec 1993). "Autosomal recessive microcephaly, microcornea, congenital cataract, mental retardation, optic atrophy, and hypogenitalism. Micro syndrome". American Journal of Diseases of Children (1960). 147 (12): 1309–12. doi:10.1001/archpedi.1993.02160360051017. PMID 8249951. Check date values in: |year= / |date= mismatch (help)
  • 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): 24781–5. doi:10.1074/jbc.273.38.24781. PMID 9733780.
  • Oishi H, Sasaki T, Nagano F, Ikeda W, Ohya T, Wada M, Ide N, Nakanishi H, Takai Y (Dec 1998). "Localization of the Rab3 small G protein regulators in nerve terminals and their involvement in Ca2+-dependent exocytosis". The Journal of Biological Chemistry. 273 (51): 34580–5. doi:10.1074/jbc.273.51.34580. PMID 9852129. Check date values in: |year= / |date= mismatch (help)
  • Rodríguez Criado G, Rufo M, Gómez de Terreros I (Oct 1999). "A second family with Micro syndrome". Clinical Dysmorphology. 8 (4): 241–5. 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): 31786–91. doi:10.1074/jbc.M003705200. PMID 10859313.
  • Kawabe H, Sakisaka T, Yasumi M, Shingai T, Izumi G, Nagano F, Deguchi-Tawarada M, Takeuchi M, Nakanishi H, Takai Y (Jun 2003). "A novel rabconnectin-3-binding protein that directly binds a GDP/GTP exchange protein for Rab3A small G protein implicated in Ca(2+)-dependent exocytosis of neurotransmitter". Genes to Cells : Devoted to Molecular & Cellular Mechanisms. 8 (6): 537–46. doi:10.1046/j.1365-2443.2003.00655.x. PMID 12786944. Check date values in: |year= / |date= mismatch (help)
  • Cheviet S, Coppola T, Haynes LP, Burgoyne RD, Regazzi R (Jan 2004). "The Rab-binding protein Noc2 is associated with insulin-containing secretory granules and is essential for pancreatic beta-cell exocytosis". Molecular Endocrinology (Baltimore, Md.). 18 (1): 117–26. 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): 635–48. doi:10.1016/j.cell.2006.09.026. PMID 17081983.
  • 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): 1005–14. doi:10.1101/gr.6030107. PMC 1899111. PMID 17567985.


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