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Synaptojanin 1

synaptojanin 1, SYNJ1
has inositol 5-phosphatase activity; interacts with dynamin to play a role in synaptic vesicle recycling [RGD, Feb 2006] (from NCBI)
Top mentioned proteins: Dynamin I, Actin, endophilin, CAN, V1a
Papers on synaptojanin 1
Non-motor symptoms and cardiac innervation in SYNJ1-related parkinsonism.
De Michele et al., Napoli, Italy. In Parkinsonism Relat Disord, Jan 2016
INTRODUCTION: PARK20 is a rare autosomal recessive parkinsonism related to the SYNJ1 gene and characterized by early-onset of disease and atypical signs such as supranuclear vertical gaze palsy, dementia, dystonia, and generalized tonic-clonic seizures.
Time-dependent changes in the mouse hippocampal synaptic membrane proteome after contextual fear conditioning.
Spijker et al., Amsterdam, Netherlands. In Hippocampus, Nov 2015
From the proteins that were differentially regulated between the delayed- and the immediate-shock groups at 4 h, 48 proteins, most prominently representing endocytosis, (amphiphysin, dynamin, and synaptojanin1), glutamate signaling (glutamate [NMDA] receptor subunit epsilon-1, disks large homolog 3), and neurotransmitter metabolism (excitatory amino acid transporter 1, excitatory amino acid transporter 2, sodium- and chloride-dependent GABA transporter 3) were regulated in both protocols, but in opposite directions, pointing toward an interaction of learning and stress.
Mutational analysis of SYNJ1 gene (PARK20) in Parkinson's disease in a Taiwanese population.
Lin et al., Taiwan. In Neurobiol Aging, Oct 2015
Whole-exome sequencing recently identified a homozygous truncating mutation in Synaptojanin 1 (SYNJ1, PARK20), p.Arg258Gln, in 2 independent families with autosomal recessive young-onset parkinsonism with seizures and cognitive decline.
Phospholipid dysregulation contributes to ApoE4-associated cognitive deficits in Alzheimer's disease pathogenesis.
Cai et al., New York City, United States. In Proc Natl Acad Sci U S A, Oct 2015
These changes are secondary to increased expression of a PIP2-degrading enzyme, the phosphoinositol phosphatase synaptojanin 1 (synj1), in ApoE4 carriers.
Synaptojanin 2 is a druggable mediator of metastasis and the gene is overexpressed and amplified in breast cancer.
Yarden et al., Israel. In Sci Signal, Feb 2015
In search for similarly targetable genomic aberrations, we identified copy number gains in SYNJ2, which encodes the 5'-inositol lipid phosphatase synaptojanin 2, as well as overexpression in a small fraction of human breast tumors.
Coordinated Expression of Phosphoinositide Metabolic Genes during Development and Aging of Human Dorsolateral Prefrontal Cortex.
Ryan et al., Bethesda, United States. In Plos One, 2014
In each interval, ITPKB, PLCD1, PIK3R3, ISYNA1, IMPA2, INPPL1, PI4KB, and AKT1 are in Group 1, PIK3CB, PTEN, PIK3CA, and IMPA1 in Group 2, and SACM1L, PI3KR4, INPP5A, SYNJ1, and PLCB1 in Group 3.
Genetics of Parkinson's disease--state of the art, 2013.
Bonifati, Rotterdam, Netherlands. In Parkinsonism Relat Disord, 2014
Here, I first outline the evolution of the research strategies to find PD-related genes, and then focus on recent advances in the field of the monogenic forms, including VPS35 mutations in autosomal dominant PD, and DNAJC6 and SYNJ1 mutations in recessive forms of juvenile parkinsonism.
Synaptojanin 1 mutation in Parkinson's disease brings further insight into the neuropathological mechanisms.
Lesage et al., Paris, France. In Biomed Res Int, 2013
Synaptojanin 1 (SYNJ1) is a phosphoinositide phosphatase highly expressed in nerve terminals.
The function of endocytosis in podocytes.
Ishibe et al., New Haven, United States. In Curr Opin Nephrol Hypertens, 2013
Recent evidence suggests that loss of key clathrin endocytic regulatory apparatus, such as dynamin, synaptojanin 1 or endophilin, in genetic mouse models of disease results in severe proteinuria and foot process effacement.
Identification of neuronal substrates implicates Pak5 in synaptic vesicle trafficking.
Peterson et al., Philadelphia, United States. In Proc Natl Acad Sci U S A, 2012
These results implicate Pak5 in Pacsin1- and Synaptojanin1-mediated synaptic vesicle trafficking.
Membrane protein sequestering by ionic protein-lipid interactions.
Jahn et al., Göttingen, Germany. In Nature, 2011
This high accumulation of PIP2 was required for syntaxin-1A sequestering, as destruction of PIP2 by the phosphatase synaptojanin-1 reduced syntaxin-1A clustering.
Synaptojanin 1-mediated PI(4,5)P2 hydrolysis is modulated by membrane curvature and facilitates membrane fission.
Di Paolo et al., New York City, United States. In Dev Cell, 2011
PI(4,5)P-to-PI4P conversion achieved by Synj1 at sites of high curvature may cooperate with dynamin to achieve membrane fission.
A synaptojanin 1 (SYNJ1) single nucleotide polymorphism not responsible for polledness in German Holstein, Limousin, Charolais and Pinzgauer cattle.
Distl et al., Hannover, Germany. In Anim Genet, 2010
Study concludes that the bSYNJ1_C3981T SNP can be ruled out as a functional mutation for polledness in German Holstein, Limousin, Charolais and Pinzgauer cattle.
Differential role for synaptojanin 1 in rod and cone photoreceptors.
Brockerhoff et al., Seattle, United States. In J Comp Neurol, 2010
This protein localized predominantly to cone photoreceptors. Using blastula stage transplantation experiments, study demonstrates that rods from mutants lacking SynJ1 develop normally and do not have the pronounced morphological defects detected in cones
Upregulation of three Drosophila homologs of human chromosome 21 genes alters synaptic function: implications for Down syndrome.
Min et al., Bloomington, United States. In Proc Natl Acad Sci U S A, 2009
Findings imply that restoring the level of any one of these genes dap160/itsn1, synj/synj1, and nla/dscr1 may reduce endocytic defects seen in DS.
Multiple genes and factors associated with bipolar disorder converge on growth factor and stress activated kinase pathways controlling translation initiation: implications for oligodendrocyte viability.
Carter, In Neurochem Int, 2007
Several form most of the components of a phosphatidyl-inositol signalling/AKT1 survival pathway (PIK3C3, PIP5K2A, PLCG1, SYNJ1, IMPA2, AKT1, GSK3B, TCF4) which is activated by growth factors (BDNF, NRG1) and also by NMDA receptors (GRIN1, GRIN2A, GRIN2B).
The inositol polyphosphate 5-phosphatases: traffic controllers, waistline watchers and tumour suppressors?
Mitchell et al., Australia. In Biochem Soc Symp, 2006
Hydrolysis of PtdIns(4,5)P2 and PtdIns(3,4,5)P3, by inositol polyphosphate 5-phosphatases regulates synaptic vesicle recycling (synaptojanin-1), hematopoietic cell function [SHIP1(SH2-containing inositol polyphosphate 5-phosphatase-1)], renal cell function [OCRL (oculocerebrorenal syndrome of Lowe)] and insulin signalling (SHIP2).
EphrinB-EphB signalling regulates clathrin-mediated endocytosis through tyrosine phosphorylation of synaptojanin 1.
Yamaguchi et al., Los Angeles, United States. In Nat Cell Biol, 2005
EphrinB-EphB signalling regulates clathrin-mediated endocytosis in various cellular contexts by influencing protein interactions and phosphoinositide turnover through tyrosine phosphorylation of synaptojanin 1.
Essential role of phosphoinositide metabolism in synaptic vesicle recycling.
De Camilli et al., New Haven, United States. In Cell, 1999
A polyphosphoinositide phosphatase, synaptojanin 1, was identified as a major presynaptic protein associated with endocytic coated intermediates.
Role of phosphorylation in regulation of the assembly of endocytic coat complexes.
De Camilli et al., New Haven, United States. In Science, 1998
Dephosphorylation of rat brain extract was shown to promote the assembly of dynamin 1, synaptojanin 1, and amphiphysin into complexes that also included clathrin and AP-2.
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