Property Summary

NCBI Gene PubMed Count 53
PubMed Score 687.92
PubTator Score 359.12

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (15)

Disease log2 FC p
malignant mesothelioma 2.300 6.3e-07
astrocytoma -2.600 2.6e-21
posterior fossa group B ependymoma -4.400 1.4e-15
glioblastoma -3.100 3.9e-10
oligodendroglioma -2.400 8.1e-18
sonic hedgehog group medulloblastoma -2.900 1.2e-05
atypical teratoid/rhabdoid tumor -3.800 1.6e-11
medulloblastoma, large-cell -1.500 1.0e-04
primitive neuroectodermal tumor -1.800 2.1e-03
tuberculosis -2.000 1.0e-06
pediatric high grade glioma -3.100 6.3e-09
pilocytic astrocytoma -2.700 3.2e-09
subependymal giant cell astrocytoma -3.031 4.7e-02
lung carcinoma 1.600 2.6e-38
Pick disease -1.600 5.4e-03

Gene RIF (20)

PMID Text
26823711 Cerebral malaria causes pre-synaptic excitation and eventually activation of synapsin I, leading to increased neurotransmitter release.
26204769 Patterns of the immunoreactivity with antibodies to SNAP-25, synapsin-I and synaptophysin are completely appropriate to those of adult's OB on the 38-40 weeks of the prenatal development.
24312498 these findings suggest PRICKLE1 mutations contribute to ASD by disrupting the interaction with SYN1 and regulation of synaptic vesicles.
24088370 The implementation of the AlphaScreen pSYN1 assay and future development of additional primary neuronal HTS assays provides an attractive approach for discovery of novel classes of therapeutic candidates for a variety of CNS disorders.
23818987 Data indicate that in patients carrying the W356x mutation the function of synapsin I is markedly impaired, and support the value of Syn1(-/-) mice as an experimental model mimicking the human pathology.
23406870 Epileptogenic Q555X SYN1 mutant triggers imbalances in release dynamics and short-term plasticity.
23250796 A conserved region of human and mouse SYN1 promoters contains cis-sites for the transcriptional activator Sp1 in close proximity to REST binding motifs.
23190742 Treatment of microglia cells with HIV-1 Tat shows TAU5 and synapsin-1 positive inclusions in cells
22807112 The allelic frequencies of SYN1 are associated with Korean female schizophrenia.
22571925 The histone modification marks were significantly increased in major depression and this effect was correlated with significant increases in SYN1b gene expression.
21441247 SYN1 loss-of-function mutations in autism and partial epilepsy cause impaired synaptic function.
20921223 the nucleocytoplasmic shuttling of dysbindin-1 regulates synapsin I expression and thus may be involved in the pathogenesis of schizophrenia.
20700059 The authors propose claudin-2 and SYN1 work in concert to enhance microbial translocation across the intestinal epithelial barrier to contribute to chronic immune activation and CD4 T-cell depletion in HIV-1-infected patients.
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
19913121 Observational study of gene-disease association. (HuGE Navigator)
19301426 This study concluded that the human synapsin I gene is positively regulated by nuclear respiratory factor 1 and mediates the function of nuclear respiratory factor 1 in neurite outgrowth.
19086053 Observational study of gene-disease association. (HuGE Navigator)
15147519 Synapsins and S100A1 interact in nerve terminals where coexpresssed; S100A1 cannot bind SV-associated synapsin I and may function as a cytoplasmic store of monomeric synapsin I; synapsin dimerization and interaction with S100A1 are mutually exclusive
14985377 SYN1 nonsense mutation is the likely cause of epileptic and other phenotypes
14673601 The results showed that synapsin I was significantly decreased in the stratum radiatum of CA1 subfield and the molecular layer of DG in AD patients.

AA Sequence

MNYLRRRLSDSNFMANLPNGYMTDLQRPQPPPPPPGAHSPGATPGPGTATAERSSGVAPAASPAAPSPGS      1 - 70
SGGGGFFSSLSNAVKQTTAAAAATFSEQVGGGSGGAGRGGAASRVLLVIDEPHTDWAKYFKGKKIHGEID     71 - 140
IKVEQAEFSDLNLVAHANGGFSVDMEVLRNGVKVVRSLKPDFVLIRQHAFSMARNGDYRSLVIGLQYAGI    141 - 210
PSVNSLHSVYNFCDKPWVFAQMVRLHKKLGTEEFPLIDQTFYPNHKEMLSSTTYPVVVKMGHAHSGMGKV    211 - 280
KVDNQHDFQDIASVVALTKTYATAEPFIDAKYDVRVQKIGQNYKAYMRTSVSGNWKTNTGSAMLEQIAMS    281 - 350
DRYKLWVDTCSEIFGGLDICAVEALHGKDGRDHIIEVVGSSMPLIGDHQDEDKQLIVELVVNKMAQALPR    351 - 420
QRQRDASPGRGSHGQTPSPGALPLGRQTSQQPAGPPAQQRPPPQGGPPQPGPGPQRQGPPLQQRPPPQGQ    421 - 490
QHLSGLGPPAGSPLPQRLPSPTSAPQQPASQAAPPTQGQGRQSRPVAGGPGAPPAARPPASPSPQRQAGP    491 - 560
PQATRQTSVSGPAPPKASGAPPGGQQRQGPPQKPPGPAGPTRQASQAGPVPRTGPPTTQQPRPSGPGPAG    561 - 630
RPKPQLAQKPSQDVPPPATAAAGGPPHPQLNKSQSLTNAFNLPEPAPPRPSLSQDEVKAETIRSLRKSFA    631 - 700
SLFSD                                                                     701 - 705
//

Text Mined References (54)

PMID Year Title
26823711 2015 Increased synapsin I expression in cerebral malaria.
26204769 [Development of the Human Olfactory Bulbs in the Prenatal Ontogenesis: an Immunochistochemical Study with Markers of Presynaptic Terminals (anti-SNAP-25, -Synapsin-I, -Synaptophysin)].
24312498 2013 PRICKLE1 interaction with SYNAPSIN I reveals a role in autism spectrum disorders.
24088370 2014 Development of a high-throughput AlphaScreen assay for modulators of synapsin I phosphorylation in primary neurons.
23818987 2013 Nonsense-mediated mRNA decay and loss-of-function of the protein underlie the X-linked epilepsy associated with the W356× mutation in synapsin I.
23406870 2013 Epileptogenic Q555X SYN1 mutant triggers imbalances in release dynamics and short-term plasticity.
23250796 2013 Specificity protein 1 (Sp1)-dependent activation of the synapsin I gene (SYN1) is modulated by RE1-silencing transcription factor (REST) and 5'-cytosine-phosphoguanine (CpG) methylation.
22807112 2012 The C allele of synonymous SNP (rs1142636, Asn170Asn) in SYN1 is a risk factor for the susceptibility of Korean female schizophrenia.
22571925 2013 H3K4 tri-methylation in synapsin genes leads to different expression patterns in bipolar disorder and major depression.
22163275 2011 Redistribution of DAT/?-synuclein complexes visualized by "in situ" proximity ligation assay in transgenic mice modelling early Parkinson's disease.
21563316 2012 Synaptic vesicle trafficking and Parkinson's disease.
21441247 2011 SYN1 loss-of-function mutations in autism and partial epilepsy cause impaired synaptic function.
21406692 2011 System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.
20921223 2010 Nucleocytoplasmic shuttling of dysbindin-1, a schizophrenia-related protein, regulates synapsin I expression.
20700059 2010 A role for syndecan-1 and claudin-2 in microbial translocation during HIV-1 infection.
20628086 2010 Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
19913121 2009 Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
19301426 2009 Human synapsin I mediates the function of nuclear respiratory factor 1 in neurite outgrowth in neuroblastoma IMR-32 cells.
19086053 2009 Identification of new putative susceptibility genes for several psychiatric disorders by association analysis of regulatory and non-synonymous SNPs of 306 genes involved in neurotransmission and neurodevelopment.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
16169070 2005 A human protein-protein interaction network: a resource for annotating the proteome.
16141272 2005 Real-time imaging of Rab3a and Rab5a reveals differential roles in presynaptic function.
15822905 Phosphoproteomic analysis of synaptosomes from human cerebral cortex.
15772651 2005 The DNA sequence of the human X chromosome.
15345747 2004 Phosphoproteomic analysis of the developing mouse brain.
15217342 2004 The synaptic vesicle cycle.
15147519 2004 S100A1 codistributes with synapsin I in discrete brain areas and inhibits the F-actin-bundling activity of synapsin I.
14985377 2004 Identification of a mutation in synapsin I, a synaptic vesicle protein, in a family with epilepsy.
14673601 2004 Regional alteration of synapsin I in the hippocampal formation of Alzheimer's disease patients.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12438562 2002 Mapping sites of O-GlcNAc modification using affinity tags for serine and threonine post-translational modifications.
12237306 2002 Synapsin I is phosphorylated at Ser603 by p21-activated kinases (PAKs) in vitro and in PC12 cells stimulated with bradykinin.
11867766 2002 Neuronal nitric-oxide synthase localization mediated by a ternary complex with synapsin and CAPON.
10899172 2000 Specificity of the binding of synapsin I to Src homology 3 domains.
10725920 2000 Synapsins as mediators of BDNF-enhanced neurotransmitter release.
10578110 1999 Molecular evolution of the synapsin gene family.
10571231 1999 A phospho-switch controls the dynamic association of synapsins with synaptic vesicles.
10386995 1999 Glycosylation sites flank phosphorylation sites on synapsin I: O-linked N-acetylglucosamine residues are localized within domains mediating synapsin I interactions.
10358015 1999 Homo- and heterodimerization of synapsins.
10099709 1999 Genetics of synaptic vesicle function: toward the complete functional anatomy of an organelle.
9645429 1998 A single human cell expresses all messenger ribonucleic acids: the arrow of time in a cell.
9463375 1998 In mouse brain profilin I and profilin II associate with regulators of the endocytic pathway and actin assembly.
9395448 1997 Characterization of substrate phosphorylation and use of calmodulin mutants to address implications from the enzyme crystal structure of calmodulin-dependent protein kinase I.
8702879 1996 Site-specific phosphorylation of synapsin I by mitogen-activated protein kinase and Cdk5 and its effects on physiological functions.
8430330 1993 Synaptic vesicle phosphoproteins and regulation of synaptic function.
8287627 Immunohistochemistry of synapsin I and synaptophysin in human nervous system and neuroendocrine tumors. Applications in diagnostic neuro-oncology.
8022809 1994 Interaction of Grb2 via its Src homology 3 domains with synaptic proteins including synapsin I.
3118371 1987 Amino acid sequences surrounding the cAMP-dependent and calcium/calmodulin-dependent phosphorylation sites in rat and bovine synapsin I.
3095840 1986 Genes for synapsin I, a neuronal phosphoprotein, map to conserved regions of human and murine X chromosomes.
2506642 1989 Synapsins: mosaics of shared and individual domains in a family of synaptic vesicle phosphoproteins.
2118519 1990 The 5'-flanking region of the synapsin I gene. A G+C-rich, TATA- and CAAT-less, phylogenetically conserved sequence with cell type-specific promoter function.
2110562 1990 The structure of the human synapsin I gene and protein.
1905928 1991 Site specificity in the interactions of synapsin 1 with tubulin.
1905878 1991 A highly polymorphic dinucleotide repeat on the proximal short arm of the human X chromosome: linkage mapping of the synapsin I/A-raf-1 genes.