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Gene Review

SYNJ1  -  synaptojanin 1

Homo sapiens

Synonyms: INPP5G, KIAA0910, PARK20, Synaptic inositol 1,4,5-trisphosphate 5-phosphatase 1, Synaptojanin-1
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Disease relevance of SYNJ1


Psychiatry related information on SYNJ1


High impact information on SYNJ1


Biological context of SYNJ1


Anatomical context of SYNJ1

  • Expression studies show that synaptojanin is strongly expressed in bone marrow and immature leukaemic cell lines, very weakly in peripheral blood leukocytes and absent in Raji, a mature B cell line [9].
  • The dramatic effects of the SH3 domain of endophilin led us to propose a model for the temporal order of addition of endophilin and its binding partner synaptojanin in the coated vesicle cycle [12].
  • It has been demonstrated that the amphiphysins also bind to clathrin, and we have proposed that this interaction may help to target synaptojanin and dynamin to sites of synaptic vesicle endocytosis [13].
  • Antibodies raised against the synaptojanin 2B-specific carboxyl-terminal region identified a 160-kDa protein in brain and testis [14].
  • These results suggest that synaptojanin 2B has a partially overlapping function with synaptojanin 1 in nerve terminals, with additional roles in neurons and other cells including spermatids [14].

Associations of SYNJ1 with chemical compounds


Other interactions of SYNJ1


Analytical, diagnostic and therapeutic context of SYNJ1


  1. Selection of ligands by panning of domain libraries displayed on phage lambda reveals new potential partners of synaptojanin 1. Zucconi, A., Dente, L., Santonico, E., Castagnoli, L., Cesareni, G. J. Mol. Biol. (2001) [Pubmed]
  2. Excessive expression of synaptojanin in brains with Down syndrome. Arai, Y., Ijuin, T., Takenawa, T., Becker, L.E., Takashima, S. Brain Dev. (2002) [Pubmed]
  3. Analysis of SYNJ1, a candidate gene for 21q22 linked bipolar disorder: a replication study. Stopkova, P., Vevera, J., Paclt, I., Zukov, I., Lachman, H.M. Psychiatry research. (2004) [Pubmed]
  4. The class II phosphoinositide 3-kinase C2alpha is activated by clathrin and regulates clathrin-mediated membrane trafficking. Gaidarov, I., Smith, M.E., Domin, J., Keen, J.H. Mol. Cell (2001) [Pubmed]
  5. EphrinB-EphB signalling regulates clathrin-mediated endocytosis through tyrosine phosphorylation of synaptojanin 1. Irie, F., Okuno, M., Pasquale, E.B., Yamaguchi, Y. Nat. Cell Biol. (2005) [Pubmed]
  6. Endophilin and synaptojanin hook up to promote synaptic vesicle endocytosis. Song, W., Zinsmaier, K.E. Neuron (2003) [Pubmed]
  7. Fission and uncoating of synaptic clathrin-coated vesicles are perturbed by disruption of interactions with the SH3 domain of endophilin. Gad, H., Ringstad, N., Löw, P., Kjaerulff, O., Gustafsson, J., Wenk, M., Di Paolo, G., Nemoto, Y., Crun, J., Ellisman, M.H., De Camilli, P., Shupliakov, O., Brodin, L. Neuron (2000) [Pubmed]
  8. Assignment of SYNJ1 to human chromosome 21q22.2 and Synj12 to the murine homologous region on chromosome 16C3-4 by in situ hybridization. Cremona, O., Nimmakayalu, M., Haffner, C., Bray-Ward, P., Ward, D.C., De Camilli, P. Cytogenet. Cell Genet. (2000) [Pubmed]
  9. The interaction between EEN and Abi-1, two MLL fusion partners, and synaptojanin and dynamin: implications for leukaemogenesis. So, C.W., So, C.K., Cheung, N., Chew, S.L., Sham, M.H., Chan, L.C. Leukemia (2000) [Pubmed]
  10. SNX9 as an adaptor for linking synaptojanin-1 to the Cdc42 effector ACK1. Yeow-Fong, L., Lim, L., Manser, E. FEBS Lett. (2005) [Pubmed]
  11. Tandem arrangement of the clathrin and AP-2 binding domains in amphiphysin 1 and disruption of clathrin coat function by amphiphysin fragments comprising these sites. Slepnev, V.I., Ochoa, G.C., Butler, M.H., De Camilli, P. J. Biol. Chem. (2000) [Pubmed]
  12. The role of dynamin and its binding partners in coated pit invagination and scission. Hill, E., van Der Kaay, J., Downes, C.P., Smythe, E. J. Cell Biol. (2001) [Pubmed]
  13. Multiple amphiphysin II splice variants display differential clathrin binding: identification of two distinct clathrin-binding sites. Ramjaun, A.R., McPherson, P.S. J. Neurochem. (1998) [Pubmed]
  14. Identification and characterization of a synaptojanin 2 splice isoform predominantly expressed in nerve terminals. Nemoto, Y., Wenk, M.R., Watanabe, M., Daniell, L., Murakami, T., Ringstad, N., Yamada, H., Takei, K., De Camilli, P. J. Biol. Chem. (2001) [Pubmed]
  15. Synaptojanin 1: localization on coated endocytic intermediates in nerve terminals and interaction of its 170 kDa isoform with Eps15. Haffner, C., Takei, K., Chen, H., Ringstad, N., Hudson, A., Butler, M.H., Salcini, A.E., Di Fiore, P.P., De Camilli, P. FEBS Lett. (1997) [Pubmed]
  16. Sequential steps in clathrin-mediated synaptic vesicle endocytosis. Brodin, L., Löw, P., Shupliakov, O. Curr. Opin. Neurobiol. (2000) [Pubmed]
  17. Solution structure of Eps15's third EH domain reveals coincident Phe-Trp and Asn-Pro-Phe binding sites. Enmon, J.L., de Beer, T., Overduin, M. Biochemistry (2000) [Pubmed]
  18. Interaction of huntingtin fragments with brain membranes--clues to early dysfunction in Huntington's disease. Suopanki, J., Götz, C., Lutsch, G., Schiller, J., Harjes, P., Herrmann, A., Wanker, E.E. J. Neurochem. (2006) [Pubmed]
  19. 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. Cestra, G., Castagnoli, L., Dente, L., Minenkova, O., Petrelli, A., Migone, N., Hoffmüller, U., Schneider-Mergener, J., Cesareni, G. J. Biol. Chem. (1999) [Pubmed]
  20. Endophilin-1: a multifunctional protein. Reutens, A.T., Begley, C.G. Int. J. Biochem. Cell Biol. (2002) [Pubmed]
  21. Cortactin and dynamin are required for the clathrin-independent endocytosis of gammac cytokine receptor. Sauvonnet, N., Dujeancourt, A., Dautry-Varsat, A. J. Cell Biol. (2005) [Pubmed]
  22. Developmental changes of synaptojanin expression in the human cerebrum and cerebellum. Arai, Y., Ijuin, T., Itoh, M., Takenawa, T., Takashima, S., Becker, L.E. Brain Res. Dev. Brain Res. (2001) [Pubmed]
  23. Total sequence decomposition distinguishes functional modules, "molegos" in apurinic/apyrimidinic endonucleases. Schein, C.H., Ozgün, N., Izumi, T., Braun, W. BMC Bioinformatics (2002) [Pubmed]
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