Syn1 synapsin I [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Syn1provided by MGI
Official Full Name: synapsin Iprovided by MGI
Primary source: MGI:MGI:98460
See related: Ensembl:ENSMUSG00000037217 AllianceGenome:MGI:98460
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Syn-1; Syn1-S
Summary: Enables identical protein binding activity and protein kinase binding activity. Involved in regulation of synaptic vesicle cycle and synaptic vesicle clustering. Acts upstream of or within neurotransmitter secretion. Located in several cellular components, including Schaffer collateral - CA1 synapse; synaptic vesicle membrane; and synaptonemal complex. Is expressed in diaphragm; intercostal muscle; molar; nervous system; and sensory organ. Used to study autism spectrum disorder. Human ortholog(s) of this gene implicated in X-linked epilepsy with variable learning disabilities and behavior disorders and non-syndromic X-linked intellectual disability 50. Orthologous to human SYN1 (synapsin I). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in frontal lobe adult (RPKM 77.1), cortex adult (RPKM 74.4) and 11 other tissues See more
Orthologs: human all
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Genomic context

Location:: X A1.3; X 16.37 cM

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	X	NC_000086.8 (20726750..20787157, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	X	NC_000086.7 (20860511..20920918, complement)

Chromosome X - NC_000086.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Systemic AAV9 gene therapy using the synapsin I promoter rescues a mouse model of neuronopathic Gaucher disease but with limited cross-correction potential to astrocytes.
Title: Systemic AAV9 gene therapy using the synapsin I promoter rescues a mouse model of neuronopathic Gaucher disease but with limited cross-correction potential to astrocytes.
Results implicate SYN1 in the pathogenesis of non-syndromic intellectual disability, showing that alterations of synaptic vesicle trafficking are one possible cause of this disease, and suggest that distinct mutations in SYN1 may lead to distinct brain pathologies.
Title: A novel SYN1 missense mutation in non-syndromic X-linked intellectual disability affects synaptic vesicle life cycle, clustering and mobility.
This study demonstrated that syn1 affect the rate of release of GABA quanta residing within the Hippocampal Interneurons.
Title: Synapsin Isoforms Regulating GABA Release from Hippocampal Interneurons.
Synapsin I is localized and produced at mature axon terminals and at immature growth cones.
Title: Sphingosine-1-Phosphate (S1P) Impacts Presynaptic Functions by Regulating Synapsin I Localization in the Presynaptic Compartment.
HSV-1-infected neurons also exhibite significantly reduced expression of the presynaptic proteins synapsin-1 and synaptophysin. These effects depended on GSK-3 activation and intraneuronal accumulation of Ab
Title: Herpes Simplex Virus type-1 infection induces synaptic dysfunction in cultured cortical neurons via GSK-3 activation and intraneuronal amyloid-β protein accumulation.
Functions of synapsins in corticothalamic facilitation: important roles of synapsin I
Title: Functions of synapsins in corticothalamic facilitation: important roles of synapsin I.
Levels of synapsin Ia/b increased in contralateral visual cortex following monocular deprivation.
Title: Monocular deprivation delays the dynamic changes of phosphorylated synapsin Ia/b at site-1 in contralateral visual cortex of juvenile mice.
SynI mRNA and protein levels are down-regulated in the hippocampus of naive and Morris water maze-treated En2-/- mice.
Title: Reduced phosphorylation of synapsin I in the hippocampus of Engrailed-2 knockout mice, a model for autism spectrum disorders.
age-dependent reduction of phospho-synapsin-Ia reversed by exercise regimen
Title: Regular and moderate exercise initiated in middle age prevents age-related amyloidogenesis and preserves synaptic and neuroprotective signaling in mouse brain cortex.
This study demonostrated that Epileptic synapsin triple knockout mice exhibit progressive long-term aberrant plasticity in the entorhinal cortex.
Title: Epileptic synapsin triple knockout mice exhibit progressive long-term aberrant plasticity in the entorhinal cortex.

Submit: New GeneRIF Correction See all GeneRIFs (48)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (4) 1 citation
Endonuclease-mediated (5) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Timp1 (e-PCR), detects polymorphism
- UniSTS:259383

px-32a7 (e-PCR)
- UniSTS:257593

UniSTS:224356 (e-PCR)
- UniSTS:224356

PMC115071P1 (e-PCR)
- UniSTS:270284

Timp (e-PCR), detects polymorphism
- UniSTS:144625

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables calcium-dependent protein binding	ISO Inferred from Sequence Orthology more info
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein kinase binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in neurotransmitter secretion	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within neurotransmitter secretion	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within neurotransmitter secretion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of short-term neuronal synaptic plasticity	TAS Traceable Author Statement more info	PubMed
involved_in regulation of synaptic vesicle cycle	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of synaptic vesicle cycle	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of synaptic vesicle exocytosis	ISO Inferred from Sequence Orthology more info
involved_in synapse organization	ISO Inferred from Sequence Orthology more info
involved_in synaptic vesicle clustering	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in synaptic vesicle cycle	IDA Inferred from Direct Assay more info	PubMed
involved_in synaptic vesicle cycle	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in Schaffer collateral - CA1 synapse	IDA Inferred from Direct Assay more info	PubMed
is_active_in Schaffer collateral - CA1 synapse	IMP Inferred from Mutant Phenotype more info	PubMed
is_active_in axon	IDA Inferred from Direct Assay more info	PubMed
located_in axon	IDA Inferred from Direct Assay more info	PubMed
is_active_in cell body	IDA Inferred from Direct Assay more info	PubMed
located_in clathrin-sculpted glutamate transport vesicle membrane	TAS Traceable Author Statement more info
located_in cytoskeleton	ISO Inferred from Sequence Orthology more info
is_active_in dendrite	IDA Inferred from Direct Assay more info	PubMed
located_in dendrite	ISO Inferred from Sequence Orthology more info
is_active_in extrinsic component of synaptic vesicle membrane	ISO Inferred from Sequence Orthology more info
located_in myelin sheath	HDA more info	PubMed
located_in postsynaptic density	IDA Inferred from Direct Assay more info	PubMed
located_in presynapse	IDA Inferred from Direct Assay more info	PubMed
located_in presynapse	ISO Inferred from Sequence Orthology more info
located_in presynaptic active zone	IDA Inferred from Direct Assay more info	PubMed
located_in presynaptic active zone	ISO Inferred from Sequence Orthology more info	PubMed
located_in synapse	IDA Inferred from Direct Assay more info	PubMed
located_in synapse	ISO Inferred from Sequence Orthology more info	PubMed
located_in synaptic vesicle	ISO Inferred from Sequence Orthology more info
is_active_in synaptic vesicle membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in synaptic vesicle membrane	IDA Inferred from Direct Assay more info	PubMed
located_in synaptic vesicle membrane	ISO Inferred from Sequence Orthology more info
located_in synaptonemal complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: synapsin-1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.