RIMS1 explained
Regulating synaptic membrane exocytosis protein 1 is a protein that in humans is encoded by the RIMS1 gene.[1] [2] [3]
Function
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][3]
Clinical significance
Mutations of the gene cause cone-rod dystrophy 7.
Interactions
RIMS1 has been shown to interact with:
Further reading
- Kelsell RE, Gregory-Evans K, Gregory-Evans CY, Holder GE, Jay MR, Weber BH, Moore AT, Bird AC, Hunt DM . Localization of a gene (CORD7) for a dominant cone-rod dystrophy to chromosome 6q . Am. J. Hum. Genet. . 63 . 1 . 274–9 . 1998 . 9634506 . 1377229 . 10.1086/301905 .
- Betz A, Thakur P, Junge HJ, Ashery U, Rhee JS, Scheuss V, Rosenmund C, Rettig J, Brose N . Functional interaction of the active zone proteins Munc13-1 and RIM1 in synaptic vesicle priming . Neuron . 30 . 1 . 183–96 . 2001 . 11343654 . 10.1016/S0896-6273(01)00272-0 . 11858/00-001M-0000-0012-F596-C . 155875 . free .
- Liu X, Schrager JA, Lange GD, Marsh JW . HIV Nef-mediated cellular phenotypes are differentially expressed as a function of intracellular Nef concentrations . J. Biol. Chem. . 276 . 35 . 32763–70 . 2001 . 11438519 . 10.1074/jbc.M101025200 . free .
- Daiho T, Yamasaki K, Saino T, Kamidochi M, Satoh K, Iizuka H, Suzuki H . 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 . J. Biol. Chem. . 276 . 35 . 32771–8 . 2001 . 11438520 . 10.1074/jbc.M101229200 . free .
- Tsuji M, Inanami O, Kuwabara M . 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 . J. Biol. Chem. . 276 . 35 . 32779–85 . 2001 . 11438521 . 10.1074/jbc.M101403200 . free .
- Dierks H, Kolanus J, Kolanus W . Actin cytoskeletal association of cytohesin-1 is regulated by specific phosphorylation of its carboxyl-terminal polybasic domain . J. Biol. Chem. . 276 . 40 . 37472–81 . 2001 . 11438522 . 10.1074/jbc.M101502200 . free .
- Schoch S, Castillo PE, Jo T, Mukherjee K, Geppert M, Wang Y, Schmitz F, Malenka RC, Südhof TC . RIM1alpha forms a protein scaffold for regulating neurotransmitter release at the active zone . Nature . 415 . 6869 . 321–6 . 2002 . 11797009 . 10.1038/415321a . 2002Natur.415..321S . 4424128 .
- Ohtsuka T, Takao-Rikitsu E, Inoue E, Inoue M, Takeuchi M, Matsubara K, Deguchi-Tawarada M, Satoh K, Morimoto K, Nakanishi H, Takai Y . Cast: a novel protein of the cytomatrix at the active zone of synapses that forms a ternary complex with RIM1 and munc13-1 . J. Cell Biol. . 158 . 3 . 577–90 . 2002 . 12163476 . 2173811 . 10.1083/jcb.200202083 .
- Wang Y, Liu X, Biederer T, Südhof TC . A family of RIM-binding proteins regulated by alternative splicing: Implications for the genesis of synaptic active zones . Proc. Natl. Acad. Sci. U.S.A. . 99 . 22 . 14464–9 . 2002 . 12391317 . 137906 . 10.1073/pnas.182532999 . 2002PNAS...9914464W . free .
- Fukuda M . Distinct Rab binding specificity of Rim1, Rim2, rabphilin, and Noc2. Identification of a critical determinant of Rab3A/Rab27A recognition by Rim2 . J. Biol. Chem. . 278 . 17 . 15373–80 . 2003 . 12578829 . 10.1074/jbc.M212341200 . free .
- Wang Y, Südhof TC . Genomic definition of RIM proteins: evolutionary amplification of a family of synaptic regulatory proteins(small star, filled) . Genomics . 81 . 2 . 126–37 . 2003 . 12620390 . 10.1016/S0888-7543(02)00024-1 .
- Johnson S, Halford S, Morris AG, Patel RJ, Wilkie SE, Hardcastle AJ, Moore AT, Zhang K, Hunt DM . Genomic organisation and alternative splicing of human RIM1, a gene implicated in autosomal dominant cone-rod dystrophy (CORD7) . Genomics . 81 . 3 . 304–14 . 2003 . 12659814 . 10.1016/S0888-7543(03)00010-7 .
- Sun L, Bittner MA, Holz RW . Rim, a component of the presynaptic active zone and modulator of exocytosis, binds 14-3-3 through its N terminus . J. Biol. Chem. . 278 . 40 . 38301–9 . 2003 . 12871946 . 10.1074/jbc.M212801200 . free .
- Takao-Rikitsu E, Mochida S, Inoue E, Deguchi-Tawarada M, Inoue M, Ohtsuka T, Takai Y . Physical and functional interaction of the active zone proteins, CAST, RIM1, and Bassoon, in neurotransmitter release . J. Cell Biol. . 164 . 2 . 301–11 . 2004 . 14734538 . 2172332 . 10.1083/jcb.200307101 .
- Beausoleil SA, Jedrychowski M, Schwartz D, Elias JE, Villén J, Li J, Cohn MA, Cantley LC, Gygi SP . Large-scale characterization of HeLa cell nuclear phosphoproteins . Proc. Natl. Acad. Sci. U.S.A. . 101 . 33 . 12130–5 . 2004 . 15302935 . 514446 . 10.1073/pnas.0404720101 . 2004PNAS..10112130B . free .
- Barragan I, Marcos I, Borrego S, Antiñolo G . Molecular analysis of RIM1 in autosomal recessive Retinitis pigmentosa . Ophthalmic Res. . 37 . 2 . 89–93 . 2005 . 15746564 . 10.1159/000084250 . 25242611 .
- 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 . Genetic enhancement of cognition in a kindred with cone–rod dystrophy due to RIMS1 mutation . J. Med. Genet. . 44 . 6 . 373–80 . 2007 . 17237123 . 2740882 . 10.1136/jmg.2006.047407 .
Notes and References
- Nagase T, Ishikawa K, Nakajima D, Ohira M, Seki N, Miyajima N, Tanaka A, Kotani H, Nomura N, Ohara O . Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro . DNA Res . 4 . 2 . 141–50 . September 1997 . 9205841 . 10.1093/dnares/4.2.141 . free .
- Coppola T, Magnin-Luthi S, Perret-Menoud V, Gattesco S, Schiavo G, Regazzi R . Direct interaction of the Rab3 effector RIM with Ca2+ channels, SNAP-25, and synaptotagmin . J Biol Chem . 276 . 35 . 32756–62 . August 2001 . 11438518 . 10.1074/jbc.M100929200 . free .
- Web site: Entrez Gene: RIMS1 regulating synaptic membrane exocytosis 1.
- Takao-Rikitsu E, Mochida S, Inoue E, Deguchi-Tawarada M, Inoue M, Ohtsuka T, Takai Y . Physical and functional interaction of the active zone proteins, CAST, RIM1, and Bassoon, in neurotransmitter release . J. Cell Biol. . 164 . 2 . 301–11 . January 2004 . 14734538 . 2172332 . 10.1083/jcb.200307101 .
- Fukuda M . Distinct Rab binding specificity of Rim1, Rim2, rabphilin, and Noc2. Identification of a critical determinant of Rab3A/Rab27A recognition by Rim2 . J. Biol. Chem. . 278 . 17 . 15373–80 . April 2003 . 12578829 . 10.1074/jbc.M212341200 . free .
- Web site: Protein unc-13 homolog A. UniProt.
- Ohtsuka T, Takao-Rikitsu E, Inoue E, Inoue M, Takeuchi M, Matsubara K, Deguchi-Tawarada M, Satoh K, Morimoto K, Nakanishi H, Takai Y . Cast: a novel protein of the cytomatrix at the active zone of synapses that forms a ternary complex with RIM1 and munc13-1 . J. Cell Biol. . 158 . 3 . 577–90 . August 2002 . 12163476 . 2173811 . 10.1083/jcb.200202083 .
- Betz A, Thakur P, Junge HJ, Ashery U, Rhee JS, Scheuss V, Rosenmund C, Rettig J, Brose N . Functional interaction of the active zone proteins Munc13-1 and RIM1 in synaptic vesicle priming . Neuron . 30 . 1 . 183–96 . April 2001 . 11343654 . 10.1016/s0896-6273(01)00272-0. 11858/00-001M-0000-0012-F596-C . 155875 . free .
- Sun L, Bittner MA, Holz RW . Rim, a component of the presynaptic active zone and modulator of exocytosis, binds 14-3-3 through its N terminus . J. Biol. Chem. . 278 . 40 . 38301–9 . October 2003 . 12871946 . 10.1074/jbc.M212801200 . free .