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 synaptogenesis and the modulation of neurotransmitter release, suggesting a potential role in several neuropsychiatric diseases. This... See more...

Aliases for SYN1 Gene

Aliases for SYN1 Gene

  • Synapsin I 2 3 4 5
  • Synapsin-1 2 3 4
  • Brain Protein 4.1 3 4
  • Mental Retardation, X-Linked 50 2
  • Synapsin Ib 3
  • MRX50 3
  • SYN1a 3
  • SYN1b 3
  • SYNI 3
  • SYN1 5

External Ids for SYN1 Gene

Previous HGNC Symbols for SYN1 Gene

  • MRX50

Previous GeneCards Identifiers for SYN1 Gene

  • GC0XM046235
  • GC0XM045692
  • GC0XM046478
  • GC0XM046477
  • GC0XM047187
  • GC0XM047316
  • GC0XM047431
  • GC0XM045143

Summaries for SYN1 Gene

Entrez Gene Summary for SYN1 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 synaptogenesis and the modulation of neurotransmitter release, suggesting a potential role in several neuropsychiatric diseases. This member of the synapsin family plays a role in regulation of axonogenesis and synaptogenesis. The protein encoded serves as a substrate for several different protein kinases and phosphorylation may function in the regulation of this protein in the nerve terminal. Mutations in this gene may be associated with X-linked disorders with primary neuronal degeneration such as Rett syndrome. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

GeneCards Summary for SYN1 Gene

SYN1 (Synapsin I) is a Protein Coding gene. Diseases associated with SYN1 include Epilepsy, X-Linked, With Variable Learning Disabilities And Behavior Disorders and Mental Retardation, X-Linked 50. Among its related pathways are Neuroscience and Monoamine Transport. Gene Ontology (GO) annotations related to this gene include protein kinase binding and transporter activity. An important paralog of this gene is SYN2.

UniProtKB/Swiss-Prot Summary for SYN1 Gene

  • Neuronal phosphoprotein that coats synaptic vesicles, binds to the cytoskeleton, and is believed to function in the regulation of neurotransmitter release. The complex formed with NOS1 and CAPON proteins is necessary for specific nitric-oxid functions at a presynaptic level.

Gene Wiki entry for SYN1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SYN1 Gene

Genomics for SYN1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SYN1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH0XJ047619 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE 600.7 +0.1 56 1.6 CREB1 ATF7 PRDM10 REST ZNF629 TFE3 SIX5 KDM1A ZNF692 BACH1 SYN1 LINC01560 FTSJ1 ZNF182 RBM10 UBA1 UXT-AS1 lnc-SYN1-22 ENSG00000283743 piR-60816-036
GH0XJ047621 Enhancer 0.3 Ensembl 600.7 -1.9 -1944 0.8 ESR1 FOS SYN1 lnc-SYN1-22 CFP ENSG00000283743
GH0XJ047620 Enhancer 0.2 Ensembl 600.7 -1.1 -1144 0.4 SYN1 UXT-AS1 lnc-SYN1-22 CFP ENSG00000283743
GH0XJ047581 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 13.8 +36.8 36789 3.5 SP1 PRDM10 LEF1 IKZF1 POLR2A BACH1 JUND ZIC2 RBFOX2 PKNOX1 JA662188 TIMP1 CFP SYN1 ARAF MIR4769 ENSG00000283743
GH0XJ047498 Enhancer 1 Ensembl ENCODE dbSUPER 12.3 +122.3 122312 2.7 CTCF REST RAD21 CTBP1 CEBPB SMC3 ZNF217 TRIM24 EP300 GATA3 SYN1 CFP TIMP1 LINC01560 RF00017-8400 piR-38756-041 ZNF41 ARAF
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SYN1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SYN1

Top Transcription factor binding sites by QIAGEN in the SYN1 gene promoter:
  • CREB
  • deltaCREB
  • NRSF form 1
  • NRSF form 2
  • Sp1

Genomic Locations for SYN1 Gene

Genomic Locations for SYN1 Gene
chrX:47,571,901-47,619,857
(GRCh38/hg38)
Size:
47,957 bases
Orientation:
Minus strand
chrX:47,431,300-47,479,256
(GRCh37/hg19)
Size:
47,957 bases
Orientation:
Minus strand

Genomic View for SYN1 Gene

Genes around SYN1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SYN1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SYN1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SYN1 Gene

Proteins for SYN1 Gene

  • Protein details for SYN1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P17600-SYN1_HUMAN
    Recommended name:
    Synapsin-1
    Protein Accession:
    P17600
    Secondary Accessions:
    • B1AJQ1
    • O75825
    • Q5H9A9

    Protein attributes for SYN1 Gene

    Size:
    705 amino acids
    Molecular mass:
    74111 Da
    Quaternary structure:
    • Homodimer. Interacts with CAPON. Forms a ternary complex with NOS1. Isoform Ib interacts with PRNP (By similarity).

    Alternative splice isoforms for SYN1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SYN1 Gene

Post-translational modifications for SYN1 Gene

  • Substrate of at least four different protein kinases. It is probable that phosphorylation plays a role in the regulation of synapsin-1 in the nerve terminal.
  • Phosphorylation at Ser-9 dissociates synapsins from synaptic vesicles.
  • Glycosylation at Ser55, Thr87, Ser96, Ser103, Ser261, Ser432, Thr526, Thr564, and Ser578
  • Modification sites at PhosphoSitePlus

Other Protein References for SYN1 Gene

Antibody Products

No data available for DME Specific Peptides for SYN1 Gene

Domains & Families for SYN1 Gene

Gene Families for SYN1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for SYN1 Gene

GenScript: Design optimal peptide antigens:
  • Synapsin I (SYN1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P17600

UniProtKB/Swiss-Prot:

SYN1_HUMAN :
  • The A region binds phospholipids with a preference for negatively charged species.
  • Belongs to the synapsin family.
Domain:
  • The A region binds phospholipids with a preference for negatively charged species.
Family:
  • Belongs to the synapsin family.
genes like me logo Genes that share domains with SYN1: view

Function for SYN1 Gene

Molecular function for SYN1 Gene

UniProtKB/Swiss-Prot Function:
Neuronal phosphoprotein that coats synaptic vesicles, binds to the cytoskeleton, and is believed to function in the regulation of neurotransmitter release. The complex formed with NOS1 and CAPON proteins is necessary for specific nitric-oxid functions at a presynaptic level.
GENATLAS Biochemistry:
synapsin I,synaptic vesicle associated phosphoprotein,involved in the fine regulation of neurotransmitter release

Gene Ontology (GO) - Molecular Function for SYN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding IEA --
GO:0005215 transporter activity TAS 2110562
GO:0005515 protein binding IPI 22163275
GO:0005524 ATP binding TAS 15217342
GO:0019901 protein kinase binding ISS --
genes like me logo Genes that share ontologies with SYN1: view
genes like me logo Genes that share phenotypes with SYN1: view

Human Phenotype Ontology for SYN1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SYN1 Gene

MGI Knock Outs for SYN1:

Animal Model Products

CRISPR Products

miRNA for SYN1 Gene

miRTarBase miRNAs that target SYN1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SYN1

Clone Products

  • Addgene plasmids for SYN1

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Transcription Factor Targets and HOMER Transcription for SYN1 Gene

Localization for SYN1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SYN1 Gene

Cell junction, synapse. Golgi apparatus.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SYN1 gene
Compartment Confidence
cytoskeleton 5
nucleus 4
cytosol 4
golgi apparatus 4
plasma membrane 2
extracellular 2
mitochondrion 2
endoplasmic reticulum 2
endosome 2
lysosome 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for SYN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000795 synaptonemal complex IEA --
GO:0005794 Golgi apparatus IEA --
GO:0005829 cytosol IEA --
GO:0005856 cytoskeleton IDA 24327345
GO:0008021 synaptic vesicle IEA,TAS 16141272
genes like me logo Genes that share ontologies with SYN1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SYN1 Gene

Pathways & Interactions for SYN1 Gene

genes like me logo Genes that share pathways with SYN1: view

SIGNOR curated interactions for SYN1 Gene

Is activated by:
Is inactivated by:
Other effect:

Gene Ontology (GO) - Biological Process for SYN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007268 chemical synaptic transmission TAS 2110562
GO:0007269 neurotransmitter secretion IEA,IBA 21873635
GO:0046928 regulation of neurotransmitter secretion TAS 21563316
GO:0048666 neuron development IEA --
GO:0050808 synapse organization IEA --
genes like me logo Genes that share ontologies with SYN1: view

Drugs & Compounds for SYN1 Gene

(1) Drugs for SYN1 Gene - From: DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine 5'-[gamma-thio]triphosphate Experimental Pharma Target 0
genes like me logo Genes that share compounds with SYN1: view

Transcripts for SYN1 Gene

mRNA/cDNA for SYN1 Gene

2 REFSEQ mRNAs :
4 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SYN1

Clone Products

  • Addgene plasmids for SYN1

Alternative Splicing Database (ASD) splice patterns (SP) for SYN1 Gene

No ASD Table

Relevant External Links for SYN1 Gene

GeneLoc Exon Structure for
SYN1

Expression for SYN1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SYN1 Gene

mRNA differential expression in normal tissues according to GTEx for SYN1 Gene

This gene is overexpressed in Brain - Cortex (x8.6), Brain - Frontal Cortex (BA9) (x7.8), Brain - Anterior cingulate cortex (BA24) (x7.0), and Brain - Hippocampus (x4.3).

Protein differential expression in normal tissues from HIPED for SYN1 Gene

This gene is overexpressed in Brain (42.4) and Frontal cortex (23.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SYN1 Gene



Protein tissue co-expression partners for SYN1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SYN1

SOURCE GeneReport for Unigene cluster for SYN1 Gene:

Hs.225936

Evidence on tissue expression from TISSUES for SYN1 Gene

  • Nervous system(4.9)
  • Eye(2.7)
  • Adrenal gland(2.7)
  • Skin(2.6)
  • Blood(2.3)
  • Muscle(2.2)
  • Heart(2.2)
  • Kidney(2.2)
  • Liver(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SYN1 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • nervous
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • head
  • skull
genes like me logo Genes that share expression patterns with SYN1: view

No data available for mRNA Expression by UniProt/SwissProt for SYN1 Gene

Orthologs for SYN1 Gene

This gene was present in the common ancestor of animals.

Orthologs for SYN1 Gene

Organism Taxonomy Gene Similarity Type Details
Dog
(Canis familiaris)
Mammalia SYN1 30 31
  • 92.56 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia SYN1 30 31
  • 92.53 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Syn1 30 17 31
  • 89.93 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Syn1 30
  • 89.81 (n)
Oppossum
(Monodelphis domestica)
Mammalia SYN1 31
  • 65 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia SYN1 31
  • 52 (a)
OneToOne
Chicken
(Gallus gallus)
Aves SYN1 31
  • 59 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 82 (a)
OneToMany
-- 31
  • 55 (a)
OneToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia LOC100158514 30
  • 65.29 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.21531 30
Zebrafish
(Danio rerio)
Actinopterygii syn1 30 31
  • 70.69 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta Syn 31 32
  • 34 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea snn-1 31
  • 24 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 59 (a)
ManyToMany
-- 31
  • 46 (a)
ManyToMany
Species where no ortholog for SYN1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chimpanzee (Pan troglodytes)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for SYN1 Gene

ENSEMBL:
Gene Tree for SYN1 (if available)
TreeFam:
Gene Tree for SYN1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SYN1: view image

Paralogs for SYN1 Gene

Paralogs for SYN1 Gene

(3) SIMAP similar genes for SYN1 Gene using alignment to 1 proteins:

  • SYN1_HUMAN
genes like me logo Genes that share paralogs with SYN1: view

Variants for SYN1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SYN1 Gene

SNP ID Clinical significance and condition Chr 0X pos Variation AA Info Type
650148 Pathogenic: Epilepsy, X-linked, with variable learning disabilities and behavior disorders 47,574,468(-) G/A NONSENSE
658864 Uncertain Significance: Epilepsy, X-linked, with variable learning disabilities and behavior disorders 47,574,762(-) C/T MISSENSE_VARIANT
665126 Uncertain Significance: Epilepsy, X-linked, with variable learning disabilities and behavior disorders 47,576,534(-) C/T MISSENSE_VARIANT
696474 Likely Benign: Epilepsy, X-linked, with variable learning disabilities and behavior disorders 47,619,480(-) C/A SYNONYMOUS_VARIANT
699024 Likely Benign: Epilepsy, X-linked, with variable learning disabilities and behavior disorders 47,576,167(-) C/T SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for SYN1 Gene

Variation tolerance for SYN1 Gene

Gene Damage Index Score: 2.80; 47.56% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SYN1 Gene

Human Gene Mutation Database (HGMD)
SYN1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SYN1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for SYN1 Gene

Disorders for SYN1 Gene

MalaCards: The human disease database

(11) MalaCards diseases for SYN1 Gene - From: OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
epilepsy, x-linked, with variable learning disabilities and behavior disorders
  • x-linked epilepsy-learning disabilities-behavior disorders syndrome
mental retardation, x-linked 50
  • mrx50
epilepsy
  • epilepsy syndrome
rett syndrome
  • rtt
syndromic x-linked intellectual disability
  • x-linked syndromic intellectual disability
- elite association - COSMIC cancer census association via MalaCards
Search SYN1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

SYN1_HUMAN
  • Epilepsy X-linked, with variable learning disabilities and behavior disorders (XELBD) [MIM:300491]: A neurologic disorder characterized by variable combinations of epilepsy, learning difficulties, macrocephaly, and aggressive behavior. {ECO:0000269 PubMed:14985377}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for SYN1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with SYN1: view

No data available for Genatlas for SYN1 Gene

Publications for SYN1 Gene

  1. A novel SYN1 missense mutation in non-syndromic X-linked intellectual disability affects synaptic vesicle life cycle, clustering and mobility. (PMID: 28973667) Guarnieri FC … Valtorta F (Human molecular genetics 2017) 2 3
  2. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 41
  3. 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. (PMID: 19086053) Gratacòs M … Psychiatric Genetics Network Group (American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2009) 3 41
  4. The DNA sequence of the human X chromosome. (PMID: 15772651) Ross MT … Bentley DR (Nature 2005) 3 4
  5. Phosphoproteomic analysis of synaptosomes from human cerebral cortex. (PMID: 15822905) DeGiorgis JA … Dosemeci A (Journal of proteome research 2005) 3 4

Products for SYN1 Gene

Sources for SYN1 Gene