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SYN1 (synapsin I)
Gene
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
6853
Gene nameGene Name - the full gene name approved by the HGNC.
Synapsin I
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
SYN1
SynonymsGene synonyms aliases
EPILX, EPILX1, MRX50, SYN1a, SYN1b, SYNI
ChromosomeChromosome number
X
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
Xp11.3-p11.23
SummarySummary of gene provided in NCBI Entrez Gene.
This gene is a member of the synapsin gene family. Synapsins encode neuronal phosphoproteins which associate with the cytoplasmic surface of synaptic vesicles. Family members are characterized by common protein domains, and they are implicated in synaptog
SNPsSNP information provided by dbSNP.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
SNP ID Visualize variation Clinical significance Consequence
rs41298474 G>A Conflicting-interpretations-of-pathogenicity, likely-pathogenic Coding sequence variant, missense variant
rs137852560 C>T Pathogenic Coding sequence variant, stop gained
rs145911562 T>C Conflicting-interpretations-of-pathogenicity, benign, likely-benign Synonymous variant, coding sequence variant
rs150248483 G>A Conflicting-interpretations-of-pathogenicity, likely-benign Synonymous variant, coding sequence variant
rs200533370 T>C Conflicting-interpretations-of-pathogenicity, benign, likely-benign Missense variant, coding sequence variant
miRNAmiRNA information provided by mirtarbase database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
miRTarBase ID miRNA Experiments Reference
MIRT018882 hsa-miR-335-5p Microarray 18185580
MIRT733606 hsa-miR-140-5p Immunofluorescence, qRT-PCR, Western blotting 33987369
MIRT1405388 hsa-miR-1290 CLIP-seq
MIRT1405389 hsa-miR-140-3p CLIP-seq
MIRT1405390 hsa-miR-1915 CLIP-seq
Transcription factors
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Transcription factor Regulation Reference
EGR1 Activation 8195167
REST Unknown 21693630
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
GO ID Ontology Definition Evidence Reference
GO:0000795 Component Synaptonemal complex IEA
GO:0003779 Function Actin binding IEA
GO:0005215 Function Transporter activity TAS 2110562
GO:0005515 Function Protein binding IPI 22163275
GO:0005524 Function ATP binding TAS 15217342
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM
HGNC
e!Ensembl
Protein
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID P17600
Protein name Synapsin-1 (Brain protein 4.1) (Synapsin I)
Protein function Neuronal phosphoprotein that coats synaptic vesicles, and binds to the cytoskeleton. Acts as a regulator of synaptic vesicles trafficking, involved in the control of neurotransmitter release at the pre-synaptic terminal (PubMed:21441247, PubMed:
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF10581 Synapsin_N
1 → 32
Synapsin N-terminal
 Domain
PF02078 Synapsin
111 → 212
Synapsin, N-terminal domain
 Domain
PF02750 Synapsin_C
214 → 416
Synapsin, ATP binding domain
 Domain
Sequence 
MNYLRRRLSDSNFMANLPNGYMTDLQRPQPPPPPPGAHSPGATPGPGTATAERSSGVAPA
ASPAAPSPGSSGGGGFFSSLSNAVKQTTAAAAATFSEQVGGGSGGAGRGGAASRVLLVID
EPHTDWAKYFKGKKIHGEIDIKVEQAEFSDLNLVAHANGGFSVDMEVLRNGVKVVRSLKP
DFVLIRQHAFSMARNGDYRSLVIGLQYAGIPSVNSLHSVYNFCDKPWVFAQMVRLHKKLG
TEEFPLIDQTFYPNHKEMLSSTTYPVVVKMGHAHSGMGKVKVDNQHDFQDIASVVALTKT
YATAEPFIDAKYDVRVQKIGQNYKAYMRTSVSGNWKTNTGSAMLEQIAMSDRYKLWVDTC
SEIFGGLDICAVEALHGKDGRDHIIEVVGSSMPLIGDHQDEDKQLIVELVVNKMAQALPR
QRQRDASPGRGSHGQTPSPGALPLGRQTSQQPAGPPAQQRPPPQGGPPQPGPGPQRQGPP
LQQRPPPQGQQHLSGLGPPAGSPLPQRLPSPTSAPQQPASQAAPPTQGQGRQSRPVAGGP
GAPPAARPPASPSPQRQAGPPQATRQTSVSGPAPPKASGAPPGGQQRQGPPQKPPGPAGP
TRQASQAGPVPRTGPPTTQQPRPSGPGPAGRPKPQLAQKPSQDVPPPATAAAGGPPHPQL
NKSQSLTNAFNLPEPAPPRPSLSQDEVKAETIRSLRKSFASLFSD
Sequence length 705
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
 
Reactome
    Serotonin Neurotransmitter Release Cycle
Dopamine Neurotransmitter Release Cycle
Associated diseases
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Causal
Disease name Disease term dbSNP ID References
Autism Autistic behavior rs121964908, rs121912597, rs2710102, rs7794745, rs142990298, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699, rs1553510219, rs1684182454, rs1559060428, rs1553510677, rs1576352885, rs1574152522, rs1574152672, rs1696658542, rs1751123722, rs1750373491, rs1751075634
Epilepsy, x-linked, with variable learning disabilities and behavior disorders Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders rs137852560, rs397514679, rs757027813, rs1183386473, rs1556860663, rs1556857481, rs1603050544, rs1603078587, rs1603051674 21441247, 14985377
Macrocephaly Macrocephaly rs786204854, rs764333096, rs1557739557
Schizophrenia Schizophrenia rs74315508, rs74315509, rs13447324, rs1558507406, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313 22807112, 20921223
Unknown
Disease name Disease term dbSNP ID References
Epilepsy-learning disabilities-behavior disorders syndrome, x-linked X-linked epilepsy-learning disabilities-behavior disorders syndrome
Mental depression Mental Depression, Depressive disorder rs587778876, rs587778877 17392736, 7777057, 18713831, 23406870, 23406870, 18713831, 7777057, 17392736
Specific learning disorder Specific learning disability rs1057519497

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