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Aliases for SYN1 Gene

Aliases for SYN1 Gene

  • Synapsin I 2 3 4
  • Brain Protein 4.1 3 4
  • Synapsin-1 3
  • SYN1a 3
  • SYN1b 3
  • SYNI 3

External Ids for SYN1 Gene

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 x-linked epilepsy - learning disabilities - behavior disorders. Among its related pathways are Transmission across Chemical Synapses and Transmission across Chemical Synapses. GO annotations related to this gene include actin binding and transporter activity. An important paralog of this gene is SYN3.

UniProtKB/Swiss-Prot 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 Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SYN1 Gene

Genomics for SYN1 Gene

Regulatory Elements for SYN1 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for SYN1 Gene

Start:
47,571,898 bp from pter
End:
47,619,857 bp from pter
Size:
47,960 bases
Orientation:
Minus strand

Genomic View for SYN1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

Proteomics data for SYN1 Gene at MOPED

Post-translational modifications for SYN1 Gene

  • Phosphorylation at Ser-9 dissociates synapsins from synaptic vesicles.
  • 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
  • Glycosylation at Ser55, Thr87, Ser96, Ser103, Ser261, Ser432, Thr526, Thr564, and Ser578
  • Modification sites at PhosphoSitePlus

Other Protein References for SYN1 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for SYN1 (SYN1)

No data available for DME Specific Peptides for SYN1 Gene

Domains for SYN1 Gene

Suggested Antigen Peptide Sequences for SYN1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P17600

UniProtKB/Swiss-Prot:

SYN1_HUMAN :
  • P17600
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

No data available for Gene Families for SYN1 Gene

Function for SYN1 Gene

Molecular function for SYN1 Gene

GENATLAS Biochemistry: synapsin I,synaptic vesicle associated phosphoprotein,involved in the fine regulation of neurotransmitter release
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

Gene Ontology (GO) - Molecular Function for SYN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding IEA --
GO:0003824 catalytic activity IEA --
GO:0005215 transporter activity TAS 2110562
GO:0005515 protein binding IPI 22163275
GO:0005524 ATP binding TAS 15217342
genes like me logo Genes that share ontologies with SYN1: view

Phenotypes for SYN1 Gene

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

Animal Models for SYN1 Gene

MGI Knock Outs for SYN1:

miRNA for SYN1 Gene

miRTarBase miRNAs that target SYN1

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SYN1

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting 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
Jensen Localization Image for SYN1 Gene COMPARTMENTS Subcellular localization image for SYN1 gene
Compartment Confidence
cytosol 3
nucleus 3
cytoskeleton 2
golgi apparatus 2
plasma membrane 2
extracellular 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for SYN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005794 Golgi apparatus IEA --
GO:0005829 cytosol IEA --
GO:0008021 synaptic vesicle TAS 16141272
GO:0030054 cell junction IEA --
GO:0030425 dendrite IEA --
genes like me logo Genes that share ontologies with SYN1: view

Pathways for SYN1 Gene

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

Pathways by source for SYN1 Gene

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Gene Ontology (GO) - Biological Process for SYN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007268 synaptic transmission TAS 2110562
GO:0007269 neurotransmitter secretion IEA --
GO:0008152 metabolic process IEA --
GO:0046928 regulation of neurotransmitter secretion TAS 21563316
GO:2000300 regulation of synaptic vesicle exocytosis NAS 10099709
genes like me logo Genes that share ontologies with SYN1: view

Compounds for SYN1 Gene

(1) Drugbank Compounds for SYN1 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Adenosine-5'-Diphosphate Monothiophosphate
target
genes like me logo Genes that share compounds with SYN1: view

Transcripts for SYN1 Gene

mRNA/cDNA for SYN1 Gene

(3) Additional mRNA sequences :
(82) Selected AceView cDNA sequences:
(2) REFSEQ mRNAs :
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for SYN1 Gene

Synapsin I:
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SYN1

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for SYN1

Flow Cytometry Products

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

No ASD Table

Relevant External Links for SYN1 Gene

GeneLoc Exon Structure for
SYN1
ECgene alternative splicing isoforms for
SYN1

Expression for SYN1 Gene

mRNA expression in normal human tissues for SYN1 Gene

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

This gene is overexpressed in Brain - Cortex (8.6), Brain - Frontal Cortex (BA9) (7.8), Brain - Anterior cingulate cortex (BA24) (7.0), and Brain - Hippocampus (4.3).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for SYN1 Gene

SOURCE GeneReport for Unigene cluster for SYN1 Gene Hs.225936

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

In Situ Assay Products

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
cow
(Bos Taurus)
Mammalia SYN1 35
  • 92.53 (n)
  • 96.6 (a)
SYN1 36
  • 66 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SYN1 35
  • 92.56 (n)
  • 96.87 (a)
SYN1 36
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Syn1 35
  • 89.93 (n)
  • 96.31 (a)
Syn1 16
Syn1 36
  • 96 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SYN1 36
  • 65 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SYN1 36
  • 52 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Syn1 35
  • 89.81 (n)
  • 96.44 (a)
chicken
(Gallus gallus)
Aves SYN1 36
  • 59 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 55 (a)
OneToMany
-- 36
  • 82 (a)
OneToMany
African clawed frog
(Xenopus laevis)
Amphibia Xl.21531 35
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100158514 35
  • 65.29 (n)
  • 66.78 (a)
zebrafish
(Danio rerio)
Actinopterygii syn1 35
  • 70.69 (n)
  • 74.37 (a)
syn1 36
  • 57 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Syn 36
  • 34 (a)
OneToMany
Syn 37
  • 44 (a)
worm
(Caenorhabditis elegans)
Secernentea snn-1 36
  • 24 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 59 (a)
ManyToMany
-- 36
  • 46 (a)
ManyToMany
Species with no ortholog for SYN1:
  • A. gosspyii yeast (Ashbya 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 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)

Paralogs for SYN1 Gene

Paralogs for SYN1 Gene

Selected SIMAP similar genes for SYN1 Gene using alignment to 1 proteins:

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

Variants for SYN1 Gene

Sequence variations from dbSNP and Humsavar for SYN1 Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type MAF
rs723556 -- 47,573,348(-) GAAAC(C/T)TCCCT intron-variant
rs760580 -- 47,607,479(+) CATTG(C/T)CATTG intron-variant
rs760581 -- 47,607,519(+) AGCAG(C/T)ACTAT intron-variant
rs1142635 -- 47,607,144(-) GTAGA(A/G)CAGGC reference, synonymous-codon
rs1142636 other 47,606,962(-) CGGAA(C/G/T)GGGGT synonymous-codon, reference

Relevant External Links for SYN1 Gene

HapMap Linkage Disequilibrium report
SYN1
Human Gene Mutation Database (HGMD)
SYN1
Locus Specific Mutation Databases (LSDB)
SYN1

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

(1) OMIM Diseases for SYN1 Gene (313440)

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.

Relevant External Links for SYN1

Genetic Association Database (GAD)
SYN1
Human Genome Epidemiology (HuGE) Navigator
SYN1
genes like me logo Genes that share disorders with SYN1: view

Publications for SYN1 Gene

  1. The structure of the human synapsin I gene and protein. (PMID: 2110562) Suedhof T.C. (J. Biol. Chem. 1990) 3 4
  2. The 5'-flanking region of the synapsin I gene. A G+C-rich, TATA- and CAAT-less, phylogenetically conserved sequence with cell type-specific promoter function. (PMID: 2118519) Sauerwald A. … Kilimann M.W. (J. Biol. Chem. 1990) 3 4
  3. Identification of a mutation in synapsin I, a synaptic vesicle protein, in a family with epilepsy. (PMID: 14985377) Garcia C.C. … Goodship J.A. (J. Med. Genet. 2004) 3 4
  4. The DNA sequence of the human X chromosome. (PMID: 15772651) Ross M.T. … Bentley D.R. (Nature 2005) 3 4
  5. Phosphoproteomic analysis of synaptosomes from human cerebral cortex. (PMID: 15822905) DeGiorgis J.A. … Dosemeci A. (J. Proteome Res. 2005) 3 4

Products for SYN1 Gene

Sources for SYN1 Gene

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