Gene Ontology annotation through association of InterPro records with GO terms
Manual transfer of experimentally-verified manual GO annotation data to orthologs by curator judgment of sequence similarity
Annotation inferences using phylogenetic trees
Gene Ontology annotation based on UniProtKB/Swiss-Prot keyword mapping
Gene Ontology annotation based on UniProtKB/Swiss-Prot Subcellular Location vocabulary mapping, accompanied by conservative changes to GO terms applied by UniProt
Automatic transfer of experimentally verified manual GO annotation data to orthologs using Ensembl Compara
Electronic Gene Ontology annotations created by ARBA machine learning models
Combined Automated Annotation using Multiple IEA Methods
Genetics of synaptic vesicle function: toward the complete functional anatomy of an organelle.
The synaptic vesicle cycle.
Real-time imaging of Rab3a and Rab5a reveals differential roles in presynaptic function.
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Study on synaptic vesicle protein dynamics
"We investigated the roles of two Rab-family proteins, Rab3a and Rab5a, in hippocampal synaptic transmission using real-time fluorescence imaging."
The structure of the human synapsin I gene and protein.
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Foundational paper describing SYN1 gene structure
"Synapsin I is a peripheral membrane protein of synaptic vesicles that mediates their attachment to the cytoskeleton."
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Describes domain organization and alternative splicing
"Domain C, the central homologous domain implicated in the binding of synapsin I to actin and to synaptic vesicles, is divided into nine exons."
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Documents SYN1 as peripheral membrane protein of synaptic vesicles
"Synapsin I is a peripheral membrane protein of synaptic vesicles that mediates their attachment to the cytoskeleton."
SYN1 loss-of-function mutations in autism and partial epilepsy cause impaired synaptic function.
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Identified Q555X mutation in SYN1 in epilepsy/ASD patients
"Here we report a Q555X mutation in synapsin 1 (SYN1), an X-linked gene encoding for a neuron-specific phosphoprotein implicated in the regulation of neurotransmitter release and synaptogenesis."
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Demonstrated failure of mutants to rescue SV pool defects in KO neurons
"When expressed in synapsin I (SynI) knockout (KO) neurons, all the D-domain mutants failed in rescuing the impairment in the size and trafficking of synaptic vesicle pools, whereas the wild-type human SynI fully reverted the KO phenotype."
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Showed role in axon outgrowth and synaptogenesis
"Here we report a Q555X mutation in synapsin 1 (SYN1), an X-linked gene encoding for a neuron-specific phosphoprotein implicated in the regulation of neurotransmitter release and synaptogenesis."
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Documented phosphorylation by CaMK2 and MAPK1
"The majority of these SYN1 mutations were clustered in the proline-rich D-domain which is substrate of multiple protein kinases."
Synaptic vesicle trafficking and Parkinson's disease.
Epileptogenic Q555X SYN1 mutant triggers imbalances in release dynamics and short-term plasticity.
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Detailed analysis of Q555X mutant effects on synaptic function
"We identified distinct physiological changes in quantal parameters, release dynamics and STP at inhibitory and excitatory synapses."
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Demonstrated differential effects on excitatory vs inhibitory synapses
"No changes in miniature EPSC (mEPSC) and miniature IPSC (mIPSC) amplitude, as well as in their rise and decay times, were observed"
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Showed SYN1 forms oligomers with SYN2
"We found that the Q555X truncation virtually abolished the ability of SynI to interact with SynIIa and strongly reduced the interaction with SynIIb."
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Documented network hyperexcitability from SYN1 mutations
"These imbalances triggered an overt hyperexcitability compatible with a causal role of Syn I mutations in the development of epilepsy and ASD."
Intracellular distribution of differentially phosphorylated dual-specificity tyrosine phosphorylation-regulated kinase 1A (DYRK1A).
Deep research synthesis on SYN1 function (2023-2024 literature)
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SYN1 scaffolds SVs into dynamic clusters forming reserve pool
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LLPS mechanism for SV condensation
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PTM regulation by phosphorylation and SUMOylation
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Presynaptic localization on SV clusters