Property Summary

NCBI Gene PubMed Count 47
PubMed Score 58.02
PubTator Score 40.99

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (14)

Disease log2 FC p
astrocytoma -1.600 2.8e-24
posterior fossa group B ependymoma -2.600 8.7e-12
oligodendroglioma -1.500 8.7e-17
glioblastoma -2.200 5.7e-05
sonic hedgehog group medulloblastoma -2.100 1.3e-08
atypical teratoid / rhabdoid tumor -2.400 7.7e-07
medulloblastoma, large-cell -3.100 2.7e-07
primitive neuroectodermal tumor -1.400 4.4e-05
tuberculosis and treatment for 6 months 1.200 2.8e-03
lung cancer -1.300 7.3e-03
pediatric high grade glioma -1.900 2.6e-06
pilocytic astrocytoma -1.300 4.7e-06
Pick disease -2.400 1.0e-04
ovarian cancer -2.500 4.0e-10

Gene RIF (15)

PMID Text
26149920 Mutations in SYNJ1 gene do not play a major role in early-onset or familial PD in our population.
25302295 Studying PD genes as a network regulating synaptic activity could bring insight into understanding the neuropathological processes of PD and help identify new genes at fault in this devastating disorder.
24927707 This study demonstrated that SYNJ1 was significantly higher in Down syndrome and correlated with several measures of Abeta. SYNJ1 was higher in down syndrome with Alzheimer disease and significantly higher than SYNJ1 in sporadic Alzheimer disease.
24816432 This is the third reported family with autosomal recessive, early-onset parkinsonism associated with the SYNJ1 p.Arg258Gln mutation. This work contributes to the definition of the genetic and clinical aspects of PARK20.
24609975 Our data suggest that the previously reported Arg258Gln mutation in SYNJ1 is not a frequent cause of Parkinson disease
24532203 the clinical progression of the Italian siblings with SYNJ1-related early-onset atypical parkinsonism seems to present a more severe progression in the early stages
24262182 This review presented that SYNJ1 in recessive forms of juvenile parkinsonism.
24052255 a novel mechanism by which reduction of a PI(4,5)P2-degrading enzyme, synj1, improves amyloid-induced neuropathology and behavior deficits through accelerating cellular Abeta clearance.
23804577 Results indicate that SYNJ1 gene is a compelling candidate for Parkinsonism; mutations in the functionally linked protein auxilin cause a similar early-onset phenotype, and other findings implicate endosomal dysfunctions in the pathogenesis.
23804563 Findings suggest that SYNJ1 mutation is responsible for the early-onset Parkinsonism phenotype probably due to deficiencies in its phosphatase activity and consequent impairment of its synaptic functions.
23115165 Synj1 reduction ameliorates AD-associated behavioral and synaptic deficits, providing evidence that Synj1 and, more generally, phosphoinositide metabolism may be promising therapeutic targets
22511594 Trisomy for SYNJ1 in Down syndrome is functionally linked to the enlargement of early endosomes.
16137687 Data show that in the presence of SNX9, synaptojanin-1 is able to colocalize with distinct ACK1 containing vesicles.
15261714 SYNJ1 gene is linked to bipolar disorder
11443522 Observational study of gene-disease association. (HuGE Navigator)

AA Sequence

MAFSKGFRIYHKLDPPPFSLIVETRHKEECLMFESGAVAVLSSAEKEAIKGTYSKVLDAYGLLGVLRLNL      1 - 70
GDTMLHYLVLVTGCMSVGKIQESEVFRVTSTEFISLRIDSSDEDRISEVRKVLNSGNFYFAWSASGISLD     71 - 140
LSLNAHRSMQEQTTDNRFFWNQSLHLHLKHYGVNCDDWLLRLMCGGVEIRTIYAAHKQAKACLISRLSCE    141 - 210
RAGTRFNVRGTNDDGHVANFVETEQVVYLDDSVSSFIQIRGSVPLFWEQPGLQVGSHRVRMSRGFEANAP    211 - 280
AFDRHFRTLKNLYGKQIIVNLLGSKEGEHMLSKAFQSHLKASEHAADIQMVNFDYHQMVKGGKAEKLHSV    281 - 350
LKPQVQKFLDYGFFYFNGSEVQRCQSGTVRTNCLDCLDRTNSVQAFLGLEMLAKQLEALGLAEKPQLVTR    351 - 420
FQEVFRSMWSVNGDSISKIYAGTGALEGKAKLKDGARSVTRTIQNNFFDSSKQEAIDVLLLGNTLNSDLA    421 - 490
DKARALLTTGSLRVSEQTLQSASSKVLKSMCENFYKYSKPKKIRVCVGTWNVNGGKQFRSIAFKNQTLTD    491 - 560
WLLDAPKLAGIQEFQDKRSKPTDIFAIGFEEMVELNAGNIVSASTTNQKLWAVELQKTISRDNKYVLLAS    561 - 630
EQLVGVCLFVFIRPQHAPFIRDVAVDTVKTGMGGATGNKGAVAIRMLFHTTSLCFVCSHFAAGQSQVKER    631 - 700
NEDFIEIARKLSFPMGRMLFSHDYVFWCGDFNYRIDLPNEEVKELIRQQNWDSLIAGDQLINQKNAGQVF    701 - 770
RGFLEGKVTFAPTYKYDLFSDDYDTSEKCRTPAWTDRVLWRRRKWPFDRSAEDLDLLNASFQDESKILYT    771 - 840
WTPGTLLHYGRAELKTSDHRPVVALIDIDIFEVEAEERQNIYKEVIAVQGPPDGTVLVSIKSSLPENNFF    841 - 910
DDALIDELLQQFASFGEVILIRFVEDKMWVTFLEGSSALNVLSLNGKELLNRTITIALKSPDWIKNLEEE    911 - 980
MSLEKISIALPSSTSSTLLGEDAEVAADFDMEGDVDDYSAEVEELLPQHLQPSSSSGLGTSPSSSPRTSP    981 - 1050
CQSPTISEGPVPSLPIRPSRAPSRTPGPPSAQSSPIDAQPATPLPQKDPAQPLEPKRPPPPRPVAPPTRP   1051 - 1120
APPQRPPPPSGARSPAPTRKEFGGIGAPPSPGVARREMEAPKSPGTTRKDNIGRSQPSPQAGLAGPGPAG   1121 - 1190
YSTARPTIPPRAGVISAPQSHARASAGRLTPESQSKTSETSKGSTFLPEPLKPQAAFPPQSSLPPPAQRL   1191 - 1260
QEPLVPVAAPMPQSGPQPNLETPPQPPPRSRSSHSLPSEASSQPQVKTNGISDGKRESPLKIDPFEDLSF   1261 - 1330
NLLAVSKAQLSVQTSPVPTPDPKRLIQLPSATQSNVLSSVSCMPTMPPIPARSQSQENMRSSPNPFITGL   1331 - 1400
TRTNPFSDRTAAPGNPFRAKSEESEATSWFSKEEPVTISPFPSLQPLGHNKSRASSSLDGFKDSFDLQGQ   1401 - 1470
STLKISNPKGWVTFEEEEDFGVKGKSKSACSDLLGNQPSSFSGSNLTLNDDWNKGTNVSFCVLPSRRPPP   1471 - 1540
PPVPLLPPGTSPPVDPFTTLASKASPTLDFTER                                        1541 - 1573
//

Text Mined References (54)

PMID Year Title
26149920 2015 Mutational analysis of SYNJ1 gene (PARK20) in Parkinson's disease in a Taiwanese population.
25302295 2014 Synaptojanin 1 mutation in Parkinson's disease brings further insight into the neuropathological mechanisms.
24927707 2014 Synaptophysin and synaptojanin-1 in Down syndrome are differentially affected by Alzheimer's disease.
24816432 2014 PARK20 caused by SYNJ1 homozygous Arg258Gln mutation in a new Italian family.
24609975 2014 The recurrent mutation Arg258Gln in SYNJ1 (PARK20) is not a common cause of Parkinson's disease.
24532203 2014 Clinical progression of SYNJ1-related early onset atypical parkinsonism: 3-year follow up of the original Italian family.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
24262182 2014 Genetics of Parkinson's disease--state of the art, 2013.
24052255 2013 Reduction of synaptojanin 1 accelerates A? clearance and attenuates cognitive deterioration in an Alzheimer mouse model.
23804577 2013 Mutation in the SYNJ1 gene associated with autosomal recessive, early-onset Parkinsonism.
23804563 2013 The Sac1 domain of SYNJ1 identified mutated in a family with early-onset progressive Parkinsonism with generalized seizures.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
23115165 2012 Reduction of synaptojanin 1 ameliorates synaptic and behavioral impairments in a mouse model of Alzheimer's disease.
22511594 2012 Trisomy for synaptojanin1 in Down syndrome is functionally linked to the enlargement of early endosomes.
21563316 2012 Synaptic vesicle trafficking and Parkinson's disease.
20068231 2010 Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.
19690332 2009 Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.
18669648 2008 A quantitative atlas of mitotic phosphorylation.
18591654 2008 Synaptojanin 1-linked phosphoinositide dyshomeostasis and cognitive deficits in mouse models of Down's syndrome.
18539136 2008 Alternative splicing affecting the SH3A domain controls the binding properties of intersectin 1 in neurons.
18281508 2008 Root hair defective4 encodes a phosphatidylinositol-4-phosphate phosphatase required for proper root hair development in Arabidopsis thaliana.
18093523 2007 The dual phosphatase activity of synaptojanin1 is required for both efficient synaptic vesicle endocytosis and reavailability at nerve terminals.
17257598 2007 Myosin 1E interacts with synaptojanin-1 and dynamin and is involved in endocytosis.
17158794 2006 Two synaptojanin 1 isoforms are recruited to clathrin-coated pits at different stages.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
16137687 2005 SNX9 as an adaptor for linking synaptojanin-1 to the Cdc42 effector ACK1.
15821731 2005 EphrinB-EphB signalling regulates clathrin-mediated endocytosis through tyrosine phosphorylation of synaptojanin 1.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15342556 2004 Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions.
15261714 2004 Analysis of SYNJ1, a candidate gene for 21q22 linked bipolar disorder: a replication study.
15105431 2004 Recognition sequences for the GYF domain reveal a possible spliceosomal function of CD2BP2.
14704270 2004 Regulation of synaptojanin 1 by cyclin-dependent kinase 5 at synapses.
12829691 2003 Atypical recognition consensus of CIN85/SETA/Ruk SH3 domains revealed by target-assisted iterative screening.
12805586 2003 The SAC domain-containing protein gene family in Arabidopsis.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12168954 2002 Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones.
11443522 2001 Mutation analysis of SYNJ1: a possible candidate gene for chromosome 21q22-linked bipolar disorder.
11292345 2001 Selection of ligands by panning of domain libraries displayed on phage lambda reveals new potential partners of synaptojanin 1.
11086983 2000 Molecular characterization of schizophrenia viewed by microarray analysis of gene expression in prefrontal cortex.
11082044 2000 All three PACSIN isoforms bind to endocytic proteins and inhibit endocytosis.
10830953 2000 The DNA sequence of human chromosome 21.
10816441 2000 Expression and protein-binding studies of the EEN gene family, new interacting partners for dynamin, synaptojanin and huntingtin proteins.
10773674 2000 Assignment of SYNJ1 to human chromosome 21q22.2 and Synj12 to the murine homologous region on chromosome 16C3-4 by in situ hybridization.
10764144 2000 The interaction between EEN and Abi-1, two MLL fusion partners, and synaptojanin and dynamin: implications for leukaemogenesis.
10542231 1999 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.
10373452 1999 EHSH1/intersectin, a protein that contains EH and SH3 domains and binds to dynamin and SNAP-25. A protein connection between exocytosis and endocytosis?
10048485 1998 Prediction of the coding sequences of unidentified human genes. XII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.
9428629 1997 Synaptojanin 1: localization on coated endocytic intermediates in nerve terminals and interaction of its 170 kDa isoform with Eps15.
9388224 1997 Synaptojanin 2, a novel synaptojanin isoform with a distinct targeting domain and expression pattern.
9341169 1997 Synaptojanin forms two separate complexes in the nerve terminal. Interactions with endophilin and amphiphysin.
9238017 1997 The SH3p4/Sh3p8/SH3p13 protein family: binding partners for synaptojanin and dynamin via a Grb2-like Src homology 3 domain.
9195986 1997 Identification and characterization of a nerve terminal-enriched amphiphysin isoform.
8889548 1996 Normalization and subtraction: two approaches to facilitate gene discovery.
7982917 1994 p145, a major Grb2-binding protein in brain, is co-localized with dynamin in nerve terminals where it undergoes activity-dependent dephosphorylation.