RPH3A

RPH3A
Identifiers
Aliases	RPH3A
External IDs	OMIM: 612159 MGI: 102788 HomoloGene: 7921 GeneCards: RPH3A
Gene location (Mouse) Chr. Chromosome 5 (mouse) [1] Band 5|5 F Start 121,078,562 bp [1] End 121,148,155 bp [1]
RNA expression pattern Bgee Human Mouse (ortholog) n/a Top expressed in superior frontal gyrus cerebellar cortex dorsal tegmental nucleus superior colliculus anterior horn of spinal cord medial vestibular nucleus primary motor cortex cerebellar vermis medial dorsal nucleus secondary oocyte BioGPS More reference expression data
Gene ontology Molecular function protein binding metal ion binding phosphatidylinositol phosphate binding lipid binding clathrin binding syntaxin binding calcium-dependent phospholipid binding phosphatidylinositol-4,5-bisphosphate binding zinc ion binding inositol 1,4,5 trisphosphate binding selenium binding phosphate ion binding calcium ion binding protein-containing complex binding Cellular component synapse cell junction membrane Golgi apparatus synaptic vesicle membrane secretory granule plasma membrane synaptic vesicle neuron projection extrinsic component of membrane cytosol protein-containing complex cytoplasmic vesicle cell projection dendritic spine postsynaptic membrane intracellular anatomical structure Biological process protein transport intracellular protein transport calcium ion-regulated exocytosis of neurotransmitter vesicle fusion regulation of calcium ion-dependent exocytosis spontaneous neurotransmitter secretion Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 22895 19894 Ensembl ENSG00000089169 ENSMUSG00000029608 UniProt Q9Y2J0 P47708 RefSeq (mRNA) NM_001143854 NM_014954 NM_011286 NM_001302344 NM_001302345 RefSeq (protein) NP_001137326 NP_055769 NP_001334881 NP_001334882 NP_001334883 NP_001334884 NP_001289273 NP_001289274 NP_035416 Location (UCSC) n/a Chr 5: 121.08 – 121.15 Mb PubMed search [2] [3]
Wikidata
View/Edit Human View/Edit Mouse

Rabphilin-3A is a protein that in humans is encoded by the RPH3A gene. ^{[4] [5] [6]} It contains two C2 domains and binds calcium ions at low micromolar concentration. Rabphilin was shown to regulate neurotransmitter release in hippocampal neurons after neurons had an increased synaptic activity and their release rate was depressed. ^[7]

Interactions

RPH3A has been shown to interact with RAB3A, ^{[8] [9] [10]} RAB3B ^{[8] [10]} and CASK. ^[11]

References

1. GRCm38: Ensembl release 89: ENSMUSG00000029608 - Ensembl, May 2017
2. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
3. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. Nagase T, Ishikawa K, Suyama M, Kikuno R, Hirosawa M, Miyajima N, Tanaka A, Kotani H, Nomura N, Ohara O (July 1999). "Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro". DNA Res. 6 (1): 63–70. doi: 10.1093/dnares/6.1.63 . PMID   10231032.
5. Inagaki N, Mizuta M, Seino S (February 1995). "Cloning of a mouse Rabphilin-3A expressed in hormone-secreting cells". J Biochem. 116 (2): 239–42. doi:10.1093/oxfordjournals.jbchem.a124512. PMID   7822236.
6. "Entrez Gene: RPH3A rabphilin 3A homolog (mouse)".
7. Deák F, Shin OH, Tang J, Hanson P, Ubach J, Jahn R, Rizo J, Kavalali ET, Südhof TC (2006). "Rabphilin regulates SNARE-dependent re-priming of synaptic vesicles for fusion". EMBO J. 25 (12): 2856–66. doi:10.1038/sj.emboj.7601165. PMC   1500841 . PMID   16763567.
8. Fukuda, Mitsunori (April 2003). "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. doi: 10.1074/jbc.M212341200 . ISSN   0021-9258. PMID   12578829.
9. Ostermeier, C; Brunger A T (February 1999). "Structural basis of Rab effector specificity: crystal structure of the small G protein Rab3A complexed with the effector domain of rabphilin-3A". Cell. 96 (3): 363–74. doi: 10.1016/S0092-8674(00)80549-8 . ISSN   0092-8674. PMID   10025402. S2CID   15162326.
10. Weber, E; Jilling T; Kirk K L (March 1996). "Distinct functional properties of Rab3A and Rab3B in PC12 neuroendocrine cells". J. Biol. Chem. 271 (12): 6963–71. doi: 10.1074/jbc.271.12.6963 . ISSN   0021-9258. PMID   8636125.
11. Zhang, Y; Luan Z; Liu A; Hu G (May 2001). "The scaffolding protein CASK mediates the interaction between rabphilin3a and beta-neurexins". FEBS Lett. 497 (2–3): 99–102. doi: 10.1016/S0014-5793(01)02450-4 . ISSN   0014-5793. PMID   11377421. S2CID   33119468.

Further reading

• Miyazaki M, Kaibuchi K, Shirataki H, et al. (1995). "Rabphilin-3A binds to a M(r) 115,000 polypeptide in a phosphatidylserine- and Ca(2+)-dependent manner". Brain Res. Mol. Brain Res. 28 (1): 29–36. doi:10.1016/0169-328X(94)00180-M. PMID   7707875.
• Imazumi K, Sasaki T, Takahashi K, Takai Y (1995). "Identification of a rabphilin-3A-interacting protein as GTP cyclohydrolase I in PC12 cells". Biochem. Biophys. Res. Commun. 205 (2): 1409–16. doi:10.1006/bbrc.1994.2822. PMID   7802677.
• Miyazaki M, Shirataki H, Kohno H, et al. (1995). "Identification as beta-adducin of a protein interacting with rabphilin-3A in the presence of Ca2+ and phosphatidylserine". Biochem. Biophys. Res. Commun. 205 (1): 460–6. doi:10.1006/bbrc.1994.2688. PMID   7999065.
• Mizoguchi A, Yano Y, Hamaguchi H, et al. (1994). "Localization of Rabphilin-3A on the synaptic vesicle". Biochem. Biophys. Res. Commun. 202 (3): 1235–43. doi:10.1006/bbrc.1994.2063. PMID   8060298.
• Weber E, Jilling T, Kirk KL (1996). "Distinct functional properties of Rab3A and Rab3B in PC12 neuroendocrine cells". J. Biol. Chem. 271 (12): 6963–71. doi: 10.1074/jbc.271.12.6963 . PMID   8636125.
• Perin MS (1996). "Mirror image motifs mediate the interaction of the COOH terminus of multiple synaptotagmins with the neurexins and calmodulin". Biochemistry. 35 (43): 13808–16. doi:10.1021/bi960853x. PMID   8901523.
• Gilligan DM, Lozovatsky L, Silberfein A (1997). "Organization of the human beta-adducin gene (ADD2)". Genomics. 43 (2): 141–8. doi: 10.1006/geno.1997.4802 . PMID   9244430.
• Ostermeier C, Brunger AT (1999). "Structural basis of Rab effector specificity: crystal structure of the small G protein Rab3A complexed with the effector domain of rabphilin-3A". Cell. 96 (3): 363–74. doi: 10.1016/S0092-8674(00)80549-8 . PMID   10025402. S2CID   15162326.
• Zhang Y, Luan Z, Liu A, Hu G (2001). "The scaffolding protein CASK mediates the interaction between rabphilin3a and beta-neurexins". FEBS Lett. 497 (2–3): 99–102. doi: 10.1016/S0014-5793(01)02450-4 . PMID   11377421. S2CID   33119468.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi: 10.1073/pnas.242603899 . PMC   139241 . PMID   12477932.
• Fukuda M (2003). "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. doi: 10.1074/jbc.M212341200 . PMID   12578829.
• Sun L, Bittner MA, Holz RW (2003). "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. doi: 10.1074/jbc.M212801200 . PMID   12871946.
• Rastaldi MP, Armelloni S, Berra S, et al. (2003). "Glomerular podocytes possess the synaptic vesicle molecule Rab3A and its specific effector rabphilin-3a". Am. J. Pathol. 163 (3): 889–99. doi:10.1016/S0002-9440(10)63449-9. PMC   1868247 . PMID   12937130.
• Dalfó E, Barrachina M, Rosa JL, et al. (2004). "Abnormal alpha-synuclein interactions with rab3a and rabphilin in diffuse Lewy body disease". Neurobiol. Dis. 16 (1): 92–7. doi:10.1016/j.nbd.2004.01.001. PMID   15207266. S2CID   5793677.
• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC   528928 . PMID   15489334.
• Smith R, Klein P, Koc-Schmitz Y, et al. (2007). "Loss of SNAP-25 and rabphilin 3a in sensory-motor cortex in Huntington's disease". J. Neurochem. 103 (1): 115–23. doi: 10.1111/j.1471-4159.2007.04703.x . PMID   17877635.
• Katkoori VR, Jia X, Chatla C, et al. (2007). "Clinical significance of a novel single nucleotide polymorphism in the 5' untranslated region of the Rabphillin-3A-Like gene in colorectal adenocarcinoma". Front. Biosci. 13 (13): 1050–61. doi:10.2741/2742. PMC   2667692 . PMID   17981610.