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Aliases for SYN1 Gene

Aliases for SYN1 Gene

  • Synapsin I 2 3 4 5
  • Brain Protein 4.1 3 4
  • 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 syndrome. Among its related pathways are Neuroscience and Neurotransmitter Release Cycle. GO annotations related to this gene include protein kinase binding and transporter activity. An important paralog of this gene is SYN2.

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

Enhancers for SYN1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around SYN1 on UCSC Golden Path with GeneCards custom track

Promoters for SYN1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around SYN1 on UCSC Golden Path with GeneCards custom track

Genomic Location for SYN1 Gene

Chromosome:
X
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

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

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 Ser 55, Thr 87, Ser 96, Ser 103, Ser 261, Ser 432, Thr 526, Thr 564, and Ser 578
  • Modification sites at PhosphoSitePlus

Other Protein References for SYN1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for SYN1 Gene

Domains & Families 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 :
  • 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

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:0019901 protein kinase binding ISS --
GO:0048306 calcium-dependent protein binding IEA --
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

miRNA for SYN1 Gene

miRTarBase miRNAs that target SYN1

No data available for Enzyme Numbers (IUBMB) , 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
Jensen Localization Image for SYN1 Gene COMPARTMENTS Subcellular localization image for SYN1 gene
Compartment Confidence
cytosol 5
nucleus 4
golgi apparatus 3
cytoskeleton 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:0005829 cytosol IEA --
GO:0030424 axon IEA --
GO:0030425 dendrite IEA --
GO:0030672 synaptic vesicle membrane IEA --
GO:0043229 intracellular organelle IEA --
genes like me logo Genes that share ontologies with SYN1: view

Pathways & Interactions for SYN1 Gene

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

Pathways by source for SYN1 Gene

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:0007269 neurotransmitter secretion 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'-Diphosphate Monothiophosphate Experimental Pharma Target 0
genes like me logo Genes that share compounds with SYN1: view

Transcripts for SYN1 Gene

mRNA/cDNA for SYN1 Gene

Unigene Clusters for SYN1 Gene

Synapsin I:
Representative Sequences:

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 (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, PaxDb, MOPED, and MaxQB for SYN1 Gene



SOURCE GeneReport for Unigene cluster for SYN1 Gene Hs.225936

genes like me logo Genes that share expression patterns with SYN1: view

Protein tissue co-expression partners for SYN1 Gene

- Elite partner

Primer Products

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
rat
(Rattus norvegicus)
Mammalia Syn1 35
  • 89.81 (n)
  • 96.44 (a)
oppossum
(Monodelphis domestica)
Mammalia SYN1 36
  • 65 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SYN1 36
  • 52 (a)
OneToOne
chicken
(Gallus gallus)
Aves SYN1 36
  • 59 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 55 (a)
OneToMany
-- 36
  • 82 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100158514 35
  • 65.29 (n)
  • 66.78 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.21531 35
zebrafish
(Danio rerio)
Actinopterygii syn1 35
  • 70.69 (n)
  • 74.37 (a)
syn1 36
  • 57 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Syn 37
  • 44 (a)
Syn 36
  • 34 (a)
OneToMany
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

(3) 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
rs747674617 -- 47,604,818(+) ATAAG(A/G)AAATT intron-variant
rs747707171 -- 47,602,716(+) GTATA(A/T)CAGTG intron-variant
rs747778342 -- 47,597,128(+) CAGGA(A/G)TTTGA intron-variant
rs747837656 -- 47,619,492(+) GACAG(A/C)GACGA reference, synonymous-codon
rs747838289 -- 47,577,958(+) ACATA(A/C)ACTAT intron-variant

Variation tolerance for SYN1 Gene

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

Relevant External Links for SYN1 Gene

HapMap Linkage Disequilibrium report
SYN1
Human Gene Mutation Database (HGMD)
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

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
epilepsy, x-linked, with variable learning disabilities and behavior disorders
  • epilepsy x-linked, with variable learning disabilities and behavior disorders
x-linked epilepsy-learning disabilities-behavior disorders syndrome
rett syndrome
  • rett syndrome, preserved speech variant
- 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.

Relevant External Links for SYN1

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

No data available for Genatlas for SYN1 Gene

Publications for SYN1 Gene

  1. 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 S.D. … Anand S. (Diabetes Care 2010) 3 48 67
  2. Systematic identification of molecular links between core and candidate genes in breast cancer. (PMID: 25640309) Arroyo R. … Aloy P. (J. Mol. Biol. 2015) 3
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  4. [Development of the Human Olfactory Bulbs in the Prenatal Ontogenesis: an Immunochistochemical Study with Markers of Presynaptic Terminals (anti-SNAP-25, -Synapsin-I, -Synaptophysin)]. (PMID: 26204769) Kharlamova A.S. … Saveliev S.V. (Ontogenez 2015) 3
  5. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein M.Y. … Mann M. (Cell 2015) 3

Products for SYN1 Gene

Sources for SYN1 Gene

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