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Relevance to Autism

Rare variants in the SYN1 gene have been identified with autism (Fassio et al., 2011).

Molecular Function

Synapsin 1 is a peripheral membrane protein on synaptic vesicles that mediates vesicle binding to the cytoskeleton.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
SYN1 loss-of-function mutations in autism and partial epilepsy cause impaired synaptic function.
ASD
epilepsy
Support
Exome sequencing of extended families with autism reveals genes shared across neurodevelopmental and neuropsychiatric disorders.
ASD
Support
Familial SYN1 variants related neurodevelopmental disorders in Asian pediatric patients
DD, ID, epilepsy/seizures
Support
Analysis of the chromosome X exome in patients with autism spectrum disorders identified novel candidate genes, including TMLHE.
ASD
ID
Support
Genome sequencing broadens the range of contributing variants with clinical implications in schizophrenia
SCZ
ID
Support
Phenotypic and genotypic characterization of families with complex intellectual disability identified pathogenic genetic variations in known and no...
ID, Afs
Support
ID, epilepsy/seizures
Support
Targeted Next-Generation Sequencing in Patients with Suggestive X-Linked Intellectual Disability.
ID
Support
Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population.
Epilepsy/seizures
Support
ID
Behavioral problems
Support
A novel SYN1 missense mutation in non-syndromic X-linked intellectual disability affects synaptic vesicle life cycle, clustering and mobility.
ID
Support
Integrating de novo and inherited variants in 42
ASD
Highly Cited
Synapsin I bundles F-actin in a phosphorylation-dependent manner.
Highly Cited
Exogenous synapsin I promotes functional maturation of developing neuromuscular synapses.
Highly Cited
Synapsins as mediators of BDNF-enhanced neurotransmitter release.
Highly Cited
Synapsin I in nerve terminals: selective association with small synaptic vesicles.
Highly Cited
Synapsin I (protein I), a nerve terminal-specific phosphoprotein. III. Its association with synaptic vesicles studied in a highly purified synaptic...
Recent Recommendation
Specificity protein 1 (Sp1)-dependent activation of the synapsin I gene (SYN1) is modulated by RE1-silencing transcription factor (REST) and 5'-cyt...
Recent Recommendation
DD, ID, epilepsy/seizures
ASD, ADHD
Recent Recommendation
Synapsin I is an oligomannose-carrying glycoprotein, acts as an oligomannose-binding lectin, and promotes neurite outgrowth and neuronal survival w...
Recent Recommendation
Effects of SYN1Q555X mutation on cortical gray matter microstructure.
Recent Recommendation
Nucleocytoplasmic shuttling of dysbindin-1, a schizophrenia-related protein, regulates synapsin I expression.
Recent Recommendation
SUMOylation of synapsin Ia maintains synaptic vesicle availability and is reduced in an autism mutation.
Recent Recommendation
Cortico-hippocampal hyperexcitability in synapsin I/II/III knockout mice: age-dependency and response to the antiepileptic drug levetiracetam.
Recent Recommendation
X-linked focal epilepsy with reflex bathing seizures: Characterization of a distinct epileptic syndrome.
ASD, epilepsy/seizures
Recent Recommendation
Epileptogenic Q555X SYN1 mutant triggers imbalances in release dynamics and short-term plasticity.
Recent Recommendation
Autism-related behavioral abnormalities in synapsin knockout mice.
ASD

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN243R001 
 stop_gained 
 c.1663C>T 
 p.Gln555Ter 
 Familial 
 Maternal 
 Multi-generational 
 GEN243R002 
 missense_variant 
 c.152C>G 
 p.Ala51Gly 
  
  
  
 GEN243R003 
 missense_variant 
 c.1648G>A 
 p.Ala550Thr 
  
  
  
 GEN243R004 
 missense_variant 
 c.1648G>A 
 p.Ala550Thr 
  
  
  
 GEN243R005 
 missense_variant 
 c.1648G>A 
 p.Ala550Thr 
  
  
  
 GEN243R006 
 missense_variant 
 c.1648G>A 
 p.Ala550Thr 
  
  
  
 GEN243R007 
 missense_variant 
 c.1699A>C 
 p.Thr567Pro 
  
  
  
 GEN243R008 
 missense_variant 
 c.1699A>C 
 p.Thr567Pro 
  
  
  
 GEN243R009 
 intron_variant 
 c.435+27G>C 
  
 Unknown 
  
 Multiplex 
 GEN243R010 
 missense_variant 
 c.430G>A 
 p.Glu144Lys 
 Familial 
  
 Extended multiplex (at least one pair of ASD affec 
 GEN243R011 
 missense_variant 
 c.236C>G 
 p.Ser79Trp 
 Familial 
 Maternal 
 Multi-generational 
 GEN243R012 
 frameshift_variant 
 c.1086_1087del 
 p.Glu362AspfsTer24 
 Familial 
 Maternal 
 Multiplex or multi-generational 
 GEN243R013 
 missense_variant 
 c.796G>A 
 p.Val266Met 
 Familial 
 Maternal 
 Multiplex 
 GEN243R014 
 missense_variant 
 c.1259G>A 
 p.Arg420Gln 
 Familial 
 Maternal 
 Multiplex 
 GEN243R015 
 missense_variant 
 c.1648G>A 
 p.Ala550Thr 
 Unknown 
  
 Unknown 
 GEN243R016 
 missense_variant 
 c.1076C>A 
 p.Thr359Lys 
 Familial 
 Maternal 
 Simplex 
 GEN243R017 
 stop_gained 
 c.1444C>T 
 p.Gln482Ter 
 Familial 
 Maternal 
 Simplex 
 GEN243R018 
 missense_variant 
 c.505C>T 
 p.Arg169Trp 
 De novo 
  
 Simplex 
 GEN243R019 
 initiator_codon_variant 
 c.2del 
 p.Met1? 
 Familial 
 Maternal 
 Extended multiplex 
 GEN243R020 
 frameshift_variant 
 c.1258dup 
 p.Arg420ProfsTer264 
 Familial 
 Maternal 
 Unknown 
 GEN243R021 
 frameshift_variant 
 c.975del 
 p.Tyr326ThrfsTer2 
 Familial 
 Maternal 
 Multiplex 
 GEN243R022 
 frameshift_variant 
 c.1729del 
 p.Ala577ProfsTer90 
 Familial 
 Maternal 
  
 GEN243R023 
 frameshift_variant 
 c.1001del 
 p.Asn334ThrfsTer74 
 Familial 
 Maternal 
 Extended multiplex 
 GEN243R024 
 frameshift_variant 
 c.1439dup 
 p.Leu481IlefsTer203 
 Familial 
 Maternal 
 Extended multiplex 
 GEN243R025 
 frameshift_variant 
 c.1794_1906del 
 p.Thr601GlufsTer45 
 Familial 
 Maternal 
 Simplex 
 GEN243R026 
 stop_gained 
 c.1447C>T 
 p.Gln483Ter 
 Familial 
 Maternal 
 Multiplex 
 GEN243R027 
 frameshift_variant 
 c.1321dup 
 p.Ala441GlyfsTer243 
 Familial 
 Maternal 
 Simplex 
 GEN243R028 
 missense_variant 
 c.1072G>A 
 p.Asp358Asn 
 Familial 
 Maternal 
 Simplex 
 GEN243R029 
 missense_variant 
 c.986C>T 
 p.Thr329Met 
 De novo 
  
 Simplex 
 GEN243R030 
 stop_gained 
 c.1264C>T 
 p.Arg422Ter 
 Familial 
 Maternal 
 Extended multiplex 
 GEN243R031 
 missense_variant 
 c.954G>T 
 p.Lys318Asn 
 De novo 
  
 Simplex 
 GEN243R032 
 missense_variant 
 c.614T>A 
 p.Leu205Gln 
 Familial 
 Maternal 
 Simplex 
 GEN243R033 
 missense_variant 
 c.774G>T 
 p.Met258Ile 
 Familial 
 Maternal 
 Simplex 
 GEN243R034 
 stop_gained 
 c.745C>T 
 p.Gln249Ter 
 Familial 
 Maternal 
 Simplex 
 GEN243R035 
 missense_variant 
 c.340A>G 
 p.Arg114Gly 
 Familial 
 Maternal 
 Simplex 
 GEN243R036 
 frameshift_variant 
 c.39del 
 p.Phe13LeufsTer10 
 Familial 
 Maternal 
 Simplex 
 GEN243R037 
 missense_variant 
 c.1121C>T 
 p.Ala374Val 
 Familial 
 Maternal 
 Multiplex 
 GEN243R038 
 frameshift_variant 
 c.980+43_981del 
  
 Familial 
 Paternal 
 Simplex 
 GEN243R039 
 inframe_insertion 
 c.614_615insTGC 
 p.Leu205_Gln206insAla 
 De novo 
  
 Simplex 
 GEN243R040 
 splice_site_variant 
 c.528-2A>T 
  
 Familial 
 Maternal 
 Extended multiplex 
 GEN243R041 
 stop_gained 
 c.586G>T 
 p.Gly196Ter 
 De novo 
  
 Simplex 
 GEN243R042 
 missense_variant 
 c.1790C>T 
 p.Pro597Leu 
 Unknown 
  
  
  et al.  

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
X
Deletion-Duplication
 13
 
X
Duplication
 1
 
X
Deletion
 1
 
X
Deletion
 2
 
X
Deletion
 4
 
X
Deletion-Duplication
 1
 
X
Deletion
 1
 
X
Deletion
 1
 
X
Deletion-Duplication
 21
 

Model Summary

involvement of Syns in generation of the behavioral traits of ASD.

References

Type
Title
Author, Year
Primary
Autism-related behavioral abnormalities in synapsin knockout mice.
Additional
The Knockout of Synapsin II in Mice Impairs Social Behavior and Functional Connectivity Generating an ASD-like Phenotype.

M_SYN1_1_KO_HM

Model Type: Genetic
Model Genotype: Homozygous
Mutation: Homologous recombination mediated deletion of exon I of synapsin I and replaced with the neomycin-resistance (neo) gene under the control of the phosphoglycerate kinase 1 (pgk) promoter.
Allele Type: Knockout
Strain of Origin: 129/Sv
Genetic Background: C57BL/6J
ES Cell Line: E14
Mutant ES Cell Line: Not Specified
Model Source: Greengard laboratory (PMID 7568107)

M_SYN1_1_KO_HM

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Repetitive digging1
Decreased
Description: Decreased marble burying behavior indicative of decreased environmental interest
Exp Paradigm: Marble-burying test
 Marble-burying test
 6 months
Social dominance1
Increased
Description: Increased social dominance as indicated by higher percentage of matches won
Exp Paradigm: Social dominance tube test
 Tube test of social dominance
 2, 6 months
Aggression1
Decreased
Description: Decreased aggression indicated by reduced social interaction with intruder after 1-2 months of social isolation
Exp Paradigm: Resident intruder test
 Resident-intruder test
 6 months
Social interaction: opposite sex2
Decreased
Description: Syni ko male mice spent less time and less frequently investigated the c57bl/6j female partner than wt mice.
Exp Paradigm: Total sniffing time was measured.
 Reciprocal social interaction test
 3 month
Social interaction1
Decreased
Description: Decreased social interaction demonstrated by virtually absent significant food preference
Exp Paradigm: Social transmission of food preference task
 Social transmission of food preference
 2, 6 months
Ultrasonic vocalization: isolation induced2
Decreased
Description: Syni ko pups separated from their mothers and siblings emitted significantly less calls and for shorter times than wildtype controls. syni ko pups separated from their mothers and siblings emitted calls with reduced peak amplitude and frequency compared to wildtype controls. syni ko pups separated from their mothers and siblings showed no change in the call categories compared to controls.
Exp Paradigm: 3-min maternal separation test. peak frequency, amplitude and total duration of the call were measured. call categories were analyzed: cx=complex, tc=two-component, up=upward, dw=downward, ch=chevron, sh=short, cp=composite, fs=frequency steps, fl=flat, un=unstructured.
 Monitoring ultrasonic vocalizations
 P4, p6, p8, p12
Ultrasonic vocalization: interaction induced: opposite sex stimulus2
Decreased
Description: Syni ko male mice showed a deficit in usvs emission rate during courtship compared to controls. syni ko male mice emitted less two-component calls than wt mice. syni ko male mice emited a lower number of vocalizations when compared to wt mice.
Exp Paradigm: Call categories were analyzed: cx=complex, tc=two-component, up=upward, dw=downward, ch=chevron, sh=short, cp=composite, fs=frequency steps, fl=flat, un=unstructured.
 Monitoring ultrasonic vocalizations
 Adult
Anxiety1
 No change
 Light-dark exploration test
 2, 6 months
General locomotor activity1
 No change
 Open field test
 2, 6 months
Brain morphology2
 No change
 Voxel based morphometry
 3- dimensional volumetric assessment of cortical and subcortical structures.
Brain size2
 No change
 Voxel based morphometry
 NA
Self grooming: perseveration1
 No change
 Grooming behavior assessments
 2, 6 months
Olfaction1
 No change
 Buried food test
 2, 6 months
Social interaction1
 No change
 Three-chamber social approach test
 2, 6 months
Social interaction1
 No change
 Three-chamber social approach test
 2, 6 months
Social memory1
 No change
 Social recognition test
 2, 6 months
 Not Reported: Circadian sleep/wake cycle, Communications, Developmental profile, Emotion, Immune response, Learning & memory, Maternal behavior, Molecular profile, Motor phenotype, Neuroanatomy / ultrastructure / cytoarchitecture, Neurophysiology, Physiological parameters, Repetitive behavior, Seizure, Sensory





Download SYN1's Cytoscape file

Interactor Symbol Interactor Name Interactor Organism Entrez ID Uniprot ID Interaction Type Evidence Reference
ARMC1 armadillo repeat containing 1 55156 Q9NVT9 IP; LC-MS/MS
Huttlin EL , et al. 2015
C14ORF104 Protein kintoun 55172 Q9NVR5-2 IP; LC-MS/MS
Huttlin EL , et al. 2015
DDX5 DEAD (Asp-Glu-Ala-Asp) box helicase 5 1655 P17844 LC-MS/MS
Havugimana PC , et al. 2012
DGUOK deoxyguanosine kinase 1716 E5KSL5 IP; LC-MS/MS
Huttlin EL , et al. 2015
HAX1 HCLS1 associated protein X-1 10456 O00165 IP; LC-MS/MS
Huttlin EL , et al. 2015
NUFIP1 Nuclear FMRP Interacting Protein 1 26747 Q9UHK0 IP; LC-MS/MS
Huttlin EL , et al. 2015
SRRT serrate RNA effector molecule homolog (Arabidopsis) 51593 Q9BXP5 LC-MS/MS
Havugimana PC , et al. 2012
FMR1 fragile X mental retardation 1 14265 P35922 HITS-CLIP
Darnell JC , et al. 2011
NOS1AP nitric oxide synthase 1 (neuronal) adaptor protein 192363 O54960 GST; IP/WB
Jaffrey SR , et al. 2002
SENP1 SUMO1/sentrin specific peptidase 1 29843 Q9P0U3 in vitro deSUMOylation assay
Tang LT , et al. 2015
Ube2i ubiquitin-conjugating enzyme E2I 25573 P63281 IP/WB
Tang LT , et al. 2015
EHMT1 G9a 30971 Q95RU8 ChIP-Seq
Kramer JM , et al. 2011

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