My NCBISign In

Display Settings:

Format

Send to:

Choose Destination

    SYN3 synapsin III [ Homo sapiens ]

    Gene ID: 8224, updated on 11-May-2012
    Help top of page

    Summary

    Official Symbol
    SYN3provided by HGNC
    Official Full Name
    synapsin IIIprovided by HGNC
    Primary source
    HGNC:11496
    Locus tag
    LL22NC03-28H9.1
    See related
    Ensembl:ENSG00000185666; HPRD:04083; MIM:602705; Vega:OTTHUMG00000031004
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    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. The protein encoded by this gene shares the synapsin family domain model, with domains A, C, and E exhibiting the highest degree of conservation. The protein contains a unique domain J, located between domains C and E. Based on this gene's localization to 22q12.3, a possible schizophrenia susceptibility locus, and the established neurobiological roles of the synapsins, this family member may represent a candidate gene for schizophrenia. The TIMP3 gene is located within an intron of this gene and is transcribed in the opposite direction. Alternative splicing of this gene results in multiple splice variants that encode different isoforms. [provided by RefSeq, Oct 2008]
    Help top of page

    Genomic context

    Location :
    22q12.3
    Sequence :
    Chromosome: 22; NC_000022.10 (32908539..33454377, complement)
    See SYN3 in Epigenomics, MapViewer

    Chromosome 22 - NC_000022.10Genomic Context describing neighboring genes Neighboring gene BPI fold containing family C Neighboring gene F-box protein 7 Neighboring gene uncharacterized LOC100652760 Neighboring gene TIMP metallopeptidase inhibitor 3 Neighboring gene like-glycosyltransferase Neighboring gene microRNA 4764 Neighboring gene uncharacterized LOC100506195

    Help top of page

    Genomic regions, transcripts, and products

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details
    Helptop of page

    Bibliography

    Related articles in PubMed

    1. Proteomic analysis identifies dysfunction in cellular transport, energy, and protein metabolism in different brain regions of atypical frontotemporal lobar degeneration. Martins-de-Souza D, et al. J Proteome Res, 2012 Apr 6. PMID 22360420.
    2. Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration. Yu Y, et al. Hum Mol Genet, 2011 Sep 15. PMID 21665990.
    3. An approach based on a genome-wide association study reveals candidate loci for narcolepsy. Shimada M, et al. Hum Genet, 2010 Oct. PMID 20677014.
    4. Proteome analysis of the thalamus and cerebrospinal fluid reveals glycolysis dysfunction and potential biomarkers candidates for schizophrenia. Martins-de-Souza D, et al. J Psychiatr Res, 2010 Dec. PMID 20471030.
    5. Genome-wide association study of advanced age-related macular degeneration identifies a role of the hepatic lipase gene (LIPC). Neale BM, et al. Proc Natl Acad Sci U S A, 2010 Apr 20. PMID 20385826.

    See all (28) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. A protein encoded by this locus was found to be differentially expressed in postmortem brains from patients with atypical frontotemporal lobar degeneration.
      Title: Proteomic analysis identifies dysfunction in cellular transport, energy, and protein metabolism in different brain regions of atypical frontotemporal lobar degeneration.
    2. This protein has been found differentially expressed in thalami from patients with schizophrenia.
      Title: Proteome analysis of the thalamus and cerebrospinal fluid reveals glycolysis dysfunction and potential biomarkers candidates for schizophrenia.
    3. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    4. Both the association studies and expression studies didn't support a major role for SYN3 in the susceptibility of schizophrenia in Irish and Chinese populations.
      Title: Association and expression study of synapsin III and schizophrenia.
    5. Meta-analysis of gene-disease association. (HuGE Navigator)
      Title: Systematic meta-analyses and field synopsis of genetic association studies in schizophrenia: the SzGene database.
    6. the C/C genotype in rs133946 and the G/G genotype in rs133945 could be protecting factors against multiple sclerosis in the Basque population.
      Title: Association between synapsin III gene promoter SNPs and multiple sclerosis in Basque patients.
    7. The variation in SYN III methylation studied is 1) not related to schizophrenia in the population sample or a monozygotic twin pair discordant for schizophrenia and 2) not related to the mRNA level of SYN IIIa in different human brain regions
      Title: DNA methylation and mRNA expression of SYN III, a candidate gene for schizophrenia.
    8. Observational study of gene-disease association. (HuGE Navigator)
      Title: An approach based on a genome-wide association study reveals candidate loci for narcolepsy.
    9. No evidence that the synapsin III locus as a major susceptibility locus contributing to attention deficit hyperactivity disorder.
      Title: The gene for synapsin III and attention-deficit hyperactivity disorder.
    10. Supports a role for synapsin III in a subset of African American patients with schizophrenia.
      Title: Association of schizophrenia in African Americans to polymorphism in synapsin III gene.
    Submit: New GeneRIF Correction See all (13)
    Help top of page

    Phenotypes

    Review eQTL and phenotype association data in this region using PheGenI

    Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration.

    Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration.

    Genome-wide association study of advanced age-related macular degeneration identifies a role of the hepatic lipase gene (LIPC).

    Help top of page

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    O14994 O75052 NOS1AP    HPRD  PubMed  
    O14994 P17600 SYN1    HPRD  PubMed  
    O14994 Q92777 SYN2    HPRD  PubMed  
    BioGRID:113857 BioGRID:115071 NOS1AP    BioGRID  PubMed Reconstituted Complex 
    BioGRID:113857 BioGRID:112720 SYN2    BioGRID  PubMed Affinity Capture-Western 
    Help top of page

    General gene information

    Markers

    Genotypes

    Homology

    Pathways from BioSystems

    • Dopamine Neurotransmitter Release Cycle, organism-specific biosystem (from REACTOME)
      Dopamine Neurotransmitter Release Cycle, organism-specific biosystemDopamine neurotransmitter cycle occurs in dopaminergic neurons. Dopamine is synthesized and loaded into the clathrin sculpted monoamine transport vesicles. The vesicles are docked, primed and fused w...
    • Neuronal System, organism-specific biosystem (from REACTOME)
      Neuronal System, organism-specific biosystemThe human brain contains at least 100 billion neurons, each with the ability to influence many other cells. Clearly, highly sophisticated and efficient mechanisms are needed to enable communication a...
    • Neurotransmitter Release Cycle, organism-specific biosystem (from REACTOME)
      Neurotransmitter Release Cycle, organism-specific biosystemNeurotransmitter is stored in the synaptic vesicle in the pre-synaptic terminal prior to its release in the synaptic cleft upon depolarization of the pre-synaptic membrane. The release of the neurotr...
    • Serotonin Neurotransmitter Release Cycle, organism-specific biosystem (from REACTOME)
      Serotonin Neurotransmitter Release Cycle, organism-specific biosystemSerotonin is synthesized in the serotonergic neurons in the central nervous system and the enterochrommaffin cells of the gastroinetstinal system. Serotonin is loaded into the clathrin sculpted monoa...
    • Transmission across Chemical Synapses, organism-specific biosystem (from REACTOME)
      Transmission across Chemical Synapses, organism-specific biosystemChemical synapses are specialized junctions that are used for communication between neurons, neurons and muscle or gland cells. The synapse involves a pre-synaptic neuron and a post-synaptic neuron,...

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    catalytic activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    ligase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    nucleotide binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    neurotransmitter secretion IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    cell junction IEA
    Inferred from Electronic Annotation
    more info
    		  
    cytoplasmic vesicle IEA
    Inferred from Electronic Annotation
    more info
    		  
    membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    synapse IEA
    Inferred from Electronic Annotation
    more info
    		  
    synaptic vesicle TAS
    Traceable Author Statement
    more info
    		 PubMed 
    synaptic vesicle membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    Help top of page

    General protein information

    Preferred Names
    synapsin-3
    Names
    synapsin-3
    cN28H9.2 (synapsin III)
    Help top of page

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_029545.1 RefSeqGene

      Range
      5001..550839
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001135774.1 → NP_001129246.1  synapsin-3 isoform IIIg

      Status: REVIEWED

      Description
      Transcript Variant: This variant (IIIg) uses an alternate in-frame splice site in the mid coding region, compared to variant IIIa, resulting in an isoform (IIIg) that is 1 aa shorter than isoform IIIa.
      Source sequence(s)
      AB209684, AI095028, DB458758, Z71183
      UniProtKB/TrEMBL
      Q17R54
      UniProtKB/TrEMBL
      Q59EX7
      Conserved Domains (3) summary
      pfam02078
      Location:87 – 190
      Blast Score: 528
      Synapsin; Synapsin, N-terminal domain
      pfam10581
      Location:1 – 29
      Blast Score: 157
      Synapsin_N; Synapsin N-terminal
      cl03087
      Location:192 – 394
      Blast Score: 1090
      ATP-grasp_4; ATP-grasp domain

    2. NM_003490.3 → NP_003481.3  synapsin-3 isoform IIIa

      Status: REVIEWED

      Description
      Transcript Variant: This variant (IIIa) encodes the full-length isoform IIIa.
      Source sequence(s)
      AI095028, BC075066, DB458758, Z71183
      Consensus CDS
      CCDS13908.1
      UniProtKB/TrEMBL
      B1B1F9
      UniProtKB/Swiss-Prot
      O14994
      Related
      ENSP00000330219, ENST00000332840
      Conserved Domains (3) summary
      pfam02078
      Location:87 – 191
      Blast Score: 517
      Synapsin; Synapsin, N-terminal domain
      pfam10581
      Location:1 – 29
      Blast Score: 157
      Synapsin_N; Synapsin N-terminal
      cl03087
      Location:193 – 395
      Blast Score: 1090
      ATP-grasp_4; ATP-grasp domain

    3. NM_133633.2 → NP_598344.2  synapsin-3 isoform IIIc

      Status: REVIEWED

      Description
      Transcript Variant: This variant (IIIc) lacks exon 12, which results in a frameshift and early stop codon compared to variant IIIa. The encoded isoform (IIIc) lacks domains J and E, as compared to the full-length isoform IIIa.
      Source sequence(s)
      AI095028, BC075066, DB458758, Z71183
      UniProtKB/Swiss-Prot
      O14994
      Related
      ENSP00000375104, ENST00000390686
      Conserved Domains (3) summary
      pfam02078
      Location:87 – 191
      Blast Score: 513
      Synapsin; Synapsin, N-terminal domain
      pfam10581
      Location:1 – 29
      Blast Score: 159
      Synapsin_N; Synapsin N-terminal
      cl03087
      Location:193 – 395
      Blast Score: 1083
      ATP-grasp_4; ATP-grasp domain

    RefSeqs of Annotated Genomes: Build 37.3

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000022.10 Reference GRCh37.p5 Primary Assembly

      Range
      32908539..33454377, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000154.1 Alternate HuRef

      Range
      15865721..16411951, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_133632.1: Suppressed sequence

      Description
      NM_133632.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
    Help top of page

    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AL021452.20 (100..8277) None
    genomic AL023282.1 (100..8982) None
    genomic AL031592.1 (100..26315) None
    genomic CH471095.1 EAW60029.1
      EAW60030.1
      EAW60031.1
      EAW60032.1
      EAW60033.1
      EAW60034.1
      EAW60035.1
      EAW60036.1
      EAW60037.1
    genomic Z69714.1 (101..44056) None
    genomic Z71183.2 CAB63144.2
    genomic Z72520.2 (102..30112) None
    genomic Z72521.1 (100..19911) None
    genomic Z73495.1 (106..38810) None
    genomic Z73979.1 (100..40925) None
    genomic Z75744.2 (100..43968) None
    genomic Z80902.2 CAI18794.1
    genomic Z81309.1 (101..8596) None
    genomic Z82181.2 CAI18771.1
    genomic Z82246.2 CAI18775.1
    genomic Z83846.1 CAB62947.2
      CAI95433.1
      CAO03552.1
    genomic Z83846.1 CAB62947.2
      CAI95433.1
      CAO03552.1
    genomic Z98256.1 CAB10915.2
    mRNA AB209684.1 BAD92921.1
    mRNA AF046873.1 AAC15101.1
    mRNA AI095028.1 None
    mRNA AK300171.1 BAG61952.1
    mRNA BC075065.2 AAH75065.1
    mRNA BC075066.2 AAH75066.1
    mRNA BC117460.1 AAI17461.1
    mRNA BC143874.1 AAI43875.1
    mRNA CR456589.1 CAG30475.1
    mRNA DB458758.1 None
    mRNA DQ655947.2 None
    other-genetic CU013189.1 CAK54620.1
    other-genetic CU013477.1 CAK54919.1
    other-genetic HQ258468.1 ADR83222.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    O14994.2 GenPept UniProtKB/Swiss-Prot:O14994
    Q17R54 GenPept UniProtKB/TrEMBL:Q17R54
    Q4TT46 GenPept UniProtKB/TrEMBL:Q4TT46
    Q59EX7 GenPept UniProtKB/TrEMBL:Q59EX7
    Help top of page

    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Molecular Biology Databases
    Research Materials
    Tools
    Miscellaneous

      Supplemental Content

      Table of contents

      Links

      Links to other resources

      General information

      Related sites

      Feedback

      Subscription

      Recent activity

      Clear Turn Off Turn On

      Your browsing activity is empty.

      Activity recording is turned off.

      Turn recording back on

      See more...