RIMS1

RAB3A (MIM 179490), a member of the Ras superfamily of genes, is a synaptic vesicle protein that regulates synaptic vesicle exocytosis. MUNC13 (UNC13; MIM 605836) and its isoforms are required for priming synaptic vesicles for exocytosis. The RIM family of active zone proteins likely function as protein scaffolds that help regulate vesicle exocytosis during short-term plasticity.[supplied by OMIM]

Mutations of the gene cause cone-rod dystrophy 7.

RIMS1 has been shown to interact with:

• ERC2,{{cite journal | vauthors = Takao-Rikitsu E, Mochida S, Inoue E, Deguchi-Tawarada M, Inoue M, Ohtsuka T, Takai Y | title = Physical and functional interaction of the active zone proteins, CAST, RIM1, and Bassoon, in neurotransmitter release | journal = J. Cell Biol. | volume = 164 | issue = 2 | pages = 301–11 | date = January 2004 | pmid = 14734538 | pmc = 2172332 | doi = 10.1083/jcb.200307101 }}
• RAB3A,{{cite journal | vauthors = Fukuda M | title = Distinct Rab binding specificity of Rim1, Rim2, rabphilin, and Noc2. Identification of a critical determinant of Rab3A/Rab27A recognition by Rim2 | journal = J. Biol. Chem. | volume = 278 | issue = 17 | pages = 15373–80 | date = April 2003 | pmid = 12578829 | doi = 10.1074/jbc.M212341200 | doi-access = free }}
• UNC13A,{{cite web|title=Protein unc-13 homolog A|url=https://www.uniprot.org/uniprot/Q9UPW8|website=UniProt}}
• UNC13B,{{cite journal | vauthors = Ohtsuka T, Takao-Rikitsu E, Inoue E, Inoue M, Takeuchi M, Matsubara K, Deguchi-Tawarada M, Satoh K, Morimoto K, Nakanishi H, Takai Y | title = Cast: a novel protein of the cytomatrix at the active zone of synapses that forms a ternary complex with RIM1 and munc13-1 | journal = J. Cell Biol. | volume = 158 | issue = 3 | pages = 577–90 | date = August 2002 | pmid = 12163476 | pmc = 2173811 | doi = 10.1083/jcb.200202083 }}{{cite journal | vauthors = Betz A, Thakur P, Junge HJ, Ashery U, Rhee JS, Scheuss V, Rosenmund C, Rettig J, Brose N | title = Functional interaction of the active zone proteins Munc13-1 and RIM1 in synaptic vesicle priming | journal = Neuron | volume = 30 | issue = 1 | pages = 183–96 | date = April 2001 | pmid = 11343654 | doi = 10.1016/s0896-6273(01)00272-0| hdl = 11858/00-001M-0000-0012-F596-C | s2cid = 155875 | hdl-access = free }} and
• YWHAH.{{cite journal | vauthors = Sun L, Bittner MA, Holz RW | title = Rim, a component of the presynaptic active zone and modulator of exocytosis, binds 14-3-3 through its N terminus | journal = J. Biol. Chem. | volume = 278 | issue = 40 | pages = 38301–9 | date = October 2003 | pmid = 12871946 | doi = 10.1074/jbc.M212801200 | doi-access = free }}

{{Reflist}}

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• {{cite journal | vauthors = Kelsell RE, Gregory-Evans K, Gregory-Evans CY, Holder GE, Jay MR, Weber BH, Moore AT, Bird AC, Hunt DM | title = Localization of a gene (CORD7) for a dominant cone-rod dystrophy to chromosome 6q | journal = Am. J. Hum. Genet. | volume = 63 | issue = 1 | pages = 274–9 | year = 1998 | pmid = 9634506 | pmc = 1377229 | doi = 10.1086/301905 }}
• {{cite journal | vauthors = Betz A, Thakur P, Junge HJ, Ashery U, Rhee JS, Scheuss V, Rosenmund C, Rettig J, Brose N | title = Functional interaction of the active zone proteins Munc13-1 and RIM1 in synaptic vesicle priming | journal = Neuron | volume = 30 | issue = 1 | pages = 183–96 | year = 2001 | pmid = 11343654 | doi = 10.1016/S0896-6273(01)00272-0 | hdl = 11858/00-001M-0000-0012-F596-C | s2cid = 155875 | hdl-access = free }}
• {{cite journal | vauthors = Liu X, Schrager JA, Lange GD, Marsh JW | title = HIV Nef-mediated cellular phenotypes are differentially expressed as a function of intracellular Nef concentrations | journal = J. Biol. Chem. | volume = 276 | issue = 35 | pages = 32763–70 | year = 2001 | pmid = 11438519 | doi = 10.1074/jbc.M101025200 | doi-access = free }}
• {{cite journal | vauthors = Daiho T, Yamasaki K, Saino T, Kamidochi M, Satoh K, Iizuka H, Suzuki H | title = Mutations of either or both Cys876 and Cys888 residues of sarcoplasmic reticulum Ca2+-ATPase result in a complete loss of Ca2+ transport activity without a loss of Ca2+-dependent ATPase activity. Role of the CYS876-CYS888 disulfide bond | journal = J. Biol. Chem. | volume = 276 | issue = 35 | pages = 32771–8 | year = 2001 | pmid = 11438520 | doi = 10.1074/jbc.M101229200 | doi-access = free }}
• {{cite journal | vauthors = Tsuji M, Inanami O, Kuwabara M | title = Induction of neurite outgrowth in PC12 cells by alpha -phenyl-N-tert-butylnitron through activation of protein kinase C and the Ras-extracellular signal-regulated kinase pathway | journal = J. Biol. Chem. | volume = 276 | issue = 35 | pages = 32779–85 | year = 2001 | pmid = 11438521 | doi = 10.1074/jbc.M101403200 | doi-access = free }}
• {{cite journal | vauthors = Dierks H, Kolanus J, Kolanus W | title = Actin cytoskeletal association of cytohesin-1 is regulated by specific phosphorylation of its carboxyl-terminal polybasic domain | journal = J. Biol. Chem. | volume = 276 | issue = 40 | pages = 37472–81 | year = 2001 | pmid = 11438522 | doi = 10.1074/jbc.M101502200 | doi-access = free }}
• {{cite journal | vauthors = Schoch S, Castillo PE, Jo T, Mukherjee K, Geppert M, Wang Y, Schmitz F, Malenka RC, Südhof TC | title = RIM1alpha forms a protein scaffold for regulating neurotransmitter release at the active zone | journal = Nature | volume = 415 | issue = 6869 | pages = 321–6 | year = 2002 | pmid = 11797009 | doi = 10.1038/415321a | bibcode = 2002Natur.415..321S | s2cid = 4424128 }}
• {{cite journal | vauthors = Ohtsuka T, Takao-Rikitsu E, Inoue E, Inoue M, Takeuchi M, Matsubara K, Deguchi-Tawarada M, Satoh K, Morimoto K, Nakanishi H, Takai Y | title = Cast: a novel protein of the cytomatrix at the active zone of synapses that forms a ternary complex with RIM1 and munc13-1 | journal = J. Cell Biol. | volume = 158 | issue = 3 | pages = 577–90 | year = 2002 | pmid = 12163476 | pmc = 2173811 | doi = 10.1083/jcb.200202083 }}
• {{cite journal | vauthors = Wang Y, Liu X, Biederer T, Südhof TC | title = A family of RIM-binding proteins regulated by alternative splicing: Implications for the genesis of synaptic active zones | journal = Proc. Natl. Acad. Sci. U.S.A. | volume = 99 | issue = 22 | pages = 14464–9 | year = 2002 | pmid = 12391317 | pmc = 137906 | doi = 10.1073/pnas.182532999 | bibcode = 2002PNAS...9914464W | doi-access = free }}
• {{cite journal | vauthors = Fukuda M | title = Distinct Rab binding specificity of Rim1, Rim2, rabphilin, and Noc2. Identification of a critical determinant of Rab3A/Rab27A recognition by Rim2 | journal = J. Biol. Chem. | volume = 278 | issue = 17 | pages = 15373–80 | year = 2003 | pmid = 12578829 | doi = 10.1074/jbc.M212341200 | doi-access = free }}
• {{cite journal | vauthors = Wang Y, Südhof TC | title = Genomic definition of RIM proteins: evolutionary amplification of a family of synaptic regulatory proteins( small star, filled ) | journal = Genomics | volume = 81 | issue = 2 | pages = 126–37 | year = 2003 | pmid = 12620390 | doi = 10.1016/S0888-7543(02)00024-1 }}
• {{cite journal | vauthors = Johnson S, Halford S, Morris AG, Patel RJ, Wilkie SE, Hardcastle AJ, Moore AT, Zhang K, Hunt DM | title = Genomic organisation and alternative splicing of human RIM1, a gene implicated in autosomal dominant cone-rod dystrophy (CORD7) | journal = Genomics | volume = 81 | issue = 3 | pages = 304–14 | year = 2003 | pmid = 12659814 | doi = 10.1016/S0888-7543(03)00010-7 }}
• {{cite journal | vauthors = Sun L, Bittner MA, Holz RW | title = Rim, a component of the presynaptic active zone and modulator of exocytosis, binds 14-3-3 through its N terminus | journal = J. Biol. Chem. | volume = 278 | issue = 40 | pages = 38301–9 | year = 2003 | pmid = 12871946 | doi = 10.1074/jbc.M212801200 | doi-access = free }}
• {{cite journal | vauthors = Takao-Rikitsu E, Mochida S, Inoue E, Deguchi-Tawarada M, Inoue M, Ohtsuka T, Takai Y | title = Physical and functional interaction of the active zone proteins, CAST, RIM1, and Bassoon, in neurotransmitter release | journal = J. Cell Biol. | volume = 164 | issue = 2 | pages = 301–11 | year = 2004 | pmid = 14734538 | pmc = 2172332 | doi = 10.1083/jcb.200307101 }}
• {{cite journal | vauthors = Beausoleil SA, Jedrychowski M, Schwartz D, Elias JE, Villén J, Li J, Cohn MA, Cantley LC, Gygi SP | title = Large-scale characterization of HeLa cell nuclear phosphoproteins | journal = Proc. Natl. Acad. Sci. U.S.A. | volume = 101 | issue = 33 | pages = 12130–5 | year = 2004 | pmid = 15302935 | pmc = 514446 | doi = 10.1073/pnas.0404720101 | bibcode = 2004PNAS..10112130B | doi-access = free }}
• {{cite journal | vauthors = Barragan I, Marcos I, Borrego S, Antiñolo G | title = Molecular analysis of RIM1 in autosomal recessive Retinitis pigmentosa | journal = Ophthalmic Res. | volume = 37 | issue = 2 | pages = 89–93 | year = 2005 | pmid = 15746564 | doi = 10.1159/000084250 | s2cid = 25242611 }}
• {{cite journal | vauthors = Sisodiya SM, Thompson PJ, Need A, Harris SE, Weale ME, Wilkie SE, Michaelides M, Free SL, Walley N, Gumbs C, Gerrelli D, Ruddle P, Whalley LJ, Starr JM, Hunt DM, Goldstein DB, Deary IJ, Moore AT | title = Genetic enhancement of cognition in a kindred with cone–rod dystrophy due to RIMS1 mutation | journal = J. Med. Genet. | volume = 44 | issue = 6 | pages = 373–80 | year = 2007 | pmid = 17237123 | pmc = 2740882 | doi = 10.1136/jmg.2006.047407 }}

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