Skip to main content

SYNJ1

  • Reference work entry
  • First Online:
Book cover Encyclopedia of Signaling Molecules

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Chapter
USD 29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 4,499.99
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Hardcover Book
USD 4,499.99
Price excludes VAT (USA)
  • Durable hardcover edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

References

  • Billcliff PG, Lowe M. Inositol lipid phosphatases in membrane trafficking and human disease. Biochem J. 2014;461(2):159–75.

    Article  PubMed  CAS  Google Scholar 

  • Cestra G, Castagnoli L, Dente L, Minenkova O, Petrelli A, Migone N, et al. The SH3 domains of endophilin and amphiphysin bind to the proline-rich region of synaptojanin 1 at distinct sites that display an unconventional binding specificity. J Biol Chem. 1999;274(45):32001–7.

    Article  PubMed  CAS  Google Scholar 

  • Chen C-K, Bregere C, Paluch J, Lu J, Dickman DK, Chang KT. Activity-dependent facilitation of Synaptojanin and synaptic vesicle recycling by the Minibrain kinase. Nat Commun. 2014;5:4246.

    Article  PubMed  CAS  Google Scholar 

  • Cremona O, Di Paolo G, Wenk MR, Lüthi A, Kim WT, Takei K, et al. Essential role of phosphoinositide metabolism in synaptic vesicle recycling. Cell. 1999;99(2):179–88.

    Article  PubMed  CAS  Google Scholar 

  • Cremona O, Nimmakayalu M, Haffner C, Bray-Ward P, Ward DC, De Camilli P. Assignment of SYNJ1 to human chromosome 21q22.2 and Synj12 to the murine homologous region on chromosome 16C3-4 by in situ hybridization. Cytogenet Cell Genet. 2000;88(1–2):89–90.

    Article  PubMed  CAS  Google Scholar 

  • Dong Y, Gou Y, Li Y, Liu Y, Bai J. Synaptojanin cooperates in vivo with endophilin through an unexpected mechanism. eLife. 2015; 4. Available from: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4435004/

  • Drouet V, Lesage S. Synaptojanin 1 mutation in Parkinson’s disease brings further insight into the neuropathological mechanisms. Biomed Res Int. 2014;2014. Available from: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4181773/

  • Dyment DA, Smith AC, Humphreys P, Schwartzentruber J, Beaulieu CL, Bulman DE, et al. Homozygous nonsense mutation in SYNJ1 associated with intractable epilepsy and tau pathology. Neurobiol Aging. 2015;36(2):1222.e1–5.

    Article  CAS  Google Scholar 

  • Gad H, Ringstad N, Löw P, Kjaerulff O, Gustafsson J, Wenk M, et al. Fission and uncoating of synaptic clathrin-coated vesicles are perturbed by disruption of interactions with the SH3 domain of endophilin. Neuron. 2000;27(2):301–12.

    Article  PubMed  CAS  Google Scholar 

  • Geng J, Wang L, Lee JY, Chen C-K, Chang KT. Phosphorylation of synaptojanin differentially regulates endocytosis of functionally distinct synaptic vesicle pools. J Neurosci. 2016;36(34):8882–94.

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  • George AA, Hayden S, Holzhausen LC, Ma EY, Suzuki SC, Brockerhoff SE. Synaptojanin 1 is required for endolysosomal trafficking of synaptic proteins in cone photoreceptor inner segments. PLoS ONE. 2014;9(1):e84394.

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  • George AA, Hayden S, Stanton GR, Brockerhoff SE. Arf6 and the 5′phosphatase of Synaptojanin 1 regulate autophagy in cone photoreceptors. Cell. 2016;1(2):117–33.

    Google Scholar 

  • Gong L-W, Camilli PD. Regulation of postsynaptic AMPA responses by synaptojanin 1. Proc Natl Acad Sci. 2008;105(45):17561–6.

    Article  PubMed  PubMed Central  Google Scholar 

  • Haffner C, Takei K, Chen H, Ringstad N, Hudson A, Butler MH, et al. Synaptojanin 1: localization on coated endocytic intermediates in nerve terminals and interaction of its 170 kDa isoform with Eps15. FEBS Lett. 1997;419(2–3):175–80.

    Article  PubMed  CAS  Google Scholar 

  • Hardies K, Cai Y, Jardel C, Jansen AC, Cao M, May P, et al. Loss of SYNJ1 dual phosphatase activity leads to early onset refractory seizures and progressive neurological decline. Brain. 2016;139(9):2420–30.

    Article  PubMed  PubMed Central  Google Scholar 

  • Harris TW, Hartwieg E, Horvitz HR, Jorgensen EM. Mutations in synaptojanin disrupt synaptic vesicle recycling. J Cell Biol. 2000;150(3):589–600.

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  • de Heuvel E, Bell AW, Ramjaun AR, Wong K, Sossin WS, McPherson PS. Identification of the major synaptojanin-binding proteins in brain. J Biol Chem. 1997;272(13):8710–6.

    Article  PubMed  Google Scholar 

  • Kim WT, Chang S, Daniell L, Cremona O, Paolo GD, Camilli PD. Delayed reentry of recycling vesicles into the fusion-competent synaptic vesicle pool in synaptojanin 1 knockout mice. Proc Natl Acad Sci. 2002;99(26):17143–8.

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  • Kirola L, Behari M, Shishir C, Thelma BK. Identification of a novel homozygous mutation Arg459Pro in SYNJ1 gene of an Indian family with autosomal recessive juvenile Parkinsonism. Parkinsonism Relat Disord. 2016;31:124–8.

    Article  PubMed  Google Scholar 

  • Krauß M, Haucke V. Phosphoinositide-metabolizing enzymes at the interface between membrane traffic and cell signalling. EMBO Rep. 2007;8(3):241–6.

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  • Krebs CE, Karkheiran S, Powell JC, Cao M, Makarov V, Darvish H, et al. The Sac1 domain of SYNJ1 identified mutated in a family with early-onset progressive Parkinsonism with generalized seizures. Hum Mutat. 2013;34(9):1200–7.

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  • Lee SY, Wenk MR, Kim Y, Nairn AC, De Camilli P. Regulation of synaptojanin 1 by cyclin-dependent kinase 5 at synapses. Proc Natl Acad Sci USA. 2004;101(2):546–51.

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  • Mayer BJ, Eck MJ. SH3 domains: minding your p’s and q’s. Curr Biol. 1995;5(4):364–7.

    Article  PubMed  CAS  Google Scholar 

  • McIntire LBJ, Berman DE, Myaeng J, Staniszewski A, Arancio O, Di Paolo G, et al. Reduction of synaptojanin 1 ameliorates synaptic and behavioral impairments in a mouse model of Alzheimer’s disease. J Neurosci. 2012;32(44):15271–6.

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  • McPherson PS, Czernik AJ, Chilcote TJ, Onofri F, Benfenati F, Greengard P, et al. Interaction of Grb2 via its Src homology 3 domains with synaptic proteins including synapsin I. Proc Natl Acad Sci. 1994;91(14):6486–90.

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  • McPherson PS, Garcia EP, Slepnev VI, David C, Zhang X, Grabs D, et al. A presynaptic inositol-5-phosphatase. Nature. 1996;379(6563):353–7.

    Article  PubMed  CAS  Google Scholar 

  • Micheva KD, Ramjaun AR, Kay BK, McPherson PS. SH3 domain-dependent interactions of endophilin with amphiphysin. FEBS Lett. 1997;414(2):308–12.

    Article  PubMed  CAS  Google Scholar 

  • Olgiati S, De Rosa A, Quadri M, Criscuolo C, Breedveld GJ, Picillo M, et al. PARK20 caused by SYNJ1 homozygous Arg258Gln mutation in a new Italian family. Neurogenetics. 2014. https://doi.org/10.1007/s10048-014-0406-0.

    Article  PubMed  Google Scholar 

  • Perera RM, Zoncu R, Lucast L, Camilli PD, Toomre D. Two synaptojanin 1 isoforms are recruited to clathrin-coated pits at different stages. Proc Natl Acad Sci. 2006;103(51):19332–7.

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  • Praefcke GJ, Ford MG, Schmid EM, Olesen LE, Gallop JL, Peak-Chew S-Y, et al. Evolving nature of the AP2 α-appendage hub during clathrin-coated vesicle endocytosis. EMBO J. 2004;23(22):4371–83.

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  • Quadri M, Fang M, Picillo M, Olgiati S, Breedveld GJ, Graafland J, et al. Mutation in the SYNJ1 gene associated with autosomal recessive, early-onset Parkinsonism. Hum Mutat. 2013;34(9):1208–15.

    Article  PubMed  CAS  Google Scholar 

  • Ramjaun AR, McPherson PS. Tissue-specific alternative splicing generates two synaptojanin isoforms with differential membrane binding properties. J Biol Chem. 1996;271(40):24856–61.

    Article  PubMed  CAS  Google Scholar 

  • Ringstad N, Nemoto Y, Camilli PD. The SH3p4/Sh3p8/SH3p13 protein family: binding partners for synaptojanin and dynamin via a Grb2-like Src homology 3 domain. Proc Natl Acad Sci. 1997;94(16):8569–74.

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  • Soda K, Balkin DM, Ferguson SM, Paradise S, Milosevic I, Giovedi S, et al. Role of dynamin, synaptojanin, and endophilin in podocyte foot processes. J Clin Invest. 2012;122(12):4401–11.

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  • Stefan CJ, Audhya A, Emr SD. The yeast synaptojanin-like proteins control the cellular distribution of phosphatidylinositol (4,5)-bisphosphate. Mol Biol Cell. 2002;13(2):542–57.

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  • Sun Y, Tawara I, Zhao M, Qin ZS, Toubai T, Mathewson N, et al. Allogeneic T cell responses are regulated by a specific miRNA-mRNA network. J Clin Invest. 2013;123(11):4739–54.

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  • Trapani JG, Obholzer N, Mo W, Brockerhoff SE, Nicolson T. Synaptojanin1 is required for temporal fidelity of synaptic transmission in hair cells. PLoS Genet. 2009;5(5):e1000480.

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  • Van Epps HA, Hayashi M, Lucast L, Stearns GW, Hurley JB, De Camilli P, et al. The zebrafish nrc mutant reveals a role for the polyphosphoinositide phosphatase synaptojanin 1 in cone photoreceptor ribbon anchoring. J Neurosci. 2004;24(40):8641–50.

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  • Zhu L, Zhong M, Elder GA, Sano M, Holtzman DM, Gandy S, et al. Phospholipid dysregulation contributes to ApoE4-associated cognitive deficits in Alzheimer’s disease pathogenesis. Proc Natl Acad Sci USA. 2015;112(38):11965–70.

    Article  PubMed  PubMed Central  CAS  Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to Valérie Drouet .

Editor information

Editors and Affiliations

Rights and permissions

Reprints and permissions

Copyright information

© 2018 Springer International Publishing AG

About this entry

Check for updates. Verify currency and authenticity via CrossMark

Cite this entry

Drouet, V., Lesage, S., Brice, A. (2018). SYNJ1. In: Choi, S. (eds) Encyclopedia of Signaling Molecules. Springer, Cham. https://doi.org/10.1007/978-3-319-67199-4_101866

Download citation

Publish with us

Policies and ethics