SYN3

Protein-coding gene in the species Homo sapiens
SYN3
Available structures
PDBOrtholog search: PDBe RCSB
List of PDB id codes

2P0A

Identifiers
AliasesSYN3, synapsin III
External IDsOMIM: 602705 MGI: 1351334 HomoloGene: 68320 GeneCards: SYN3
Gene location (Human)
Chromosome 22 (human)
Chr.Chromosome 22 (human)[1]
Chromosome 22 (human)
Genomic location for SYN3
Genomic location for SYN3
Band22q12.3Start32,507,820 bp[1]
End33,058,381 bp[1]
Gene location (Mouse)
Chromosome 10 (mouse)
Chr.Chromosome 10 (mouse)[2]
Chromosome 10 (mouse)
Genomic location for SYN3
Genomic location for SYN3
Band10|10 C1Start86,055,125 bp[2]
End86,498,896 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • prefrontal cortex

  • Brodmann area 23

  • postcentral gyrus

  • dorsolateral prefrontal cortex

  • middle temporal gyrus

  • sural nerve

  • superior frontal gyrus

  • Brodmann area 9

  • cingulate gyrus

  • ganglionic eminence
Top expressed in
  • superior frontal gyrus

  • neuron

  • proximal tubule

  • neural tube

  • cerebellar cortex

  • ganglionic eminence

  • stomach

  • hippocampus proper

  • limb

  • kidney
More reference expression data
BioGPS
More reference expression data
Gene ontology
Molecular function
  • nucleotide binding
  • ATP binding
Cellular component
  • cell junction
  • synapse
  • synaptic vesicle membrane
  • membrane
  • cytoplasmic vesicle
  • synaptic vesicle
  • postsynaptic density
  • glutamatergic synapse
Biological process
  • regulation of synaptic transmission, GABAergic
  • neurotransmitter secretion
  • synaptic vesicle clustering
  • synaptic vesicle cycle
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
Entrez

8224

27204

Ensembl

ENSG00000185666

ENSMUSG00000059602

UniProt

O14994

Q8JZP2

RefSeq (mRNA)
NM_001135774
NM_003490
NM_133632
NM_133633
NM_001369907

NM_001369908
NM_001369909
NM_001369910

NM_001164495
NM_013722

RefSeq (protein)
NP_001129246
NP_003481
NP_598344
NP_001356836
NP_001356837

NP_001356838
NP_001356839

NP_001157967
NP_038750

Location (UCSC)Chr 22: 32.51 – 33.06 MbChr 10: 86.06 – 86.5 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Synapsin-3 is a protein that in humans is encoded by the SYN3 gene.[5][6]

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 six transcript variants; however, only two variants have been fully described.[6]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000185666 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000059602 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Kao HT, Porton B, Czernik AJ, Feng J, Yiu G, Haring M, Benfenati F, Greengard P (May 1998). "A third member of the synapsin gene family". Proc Natl Acad Sci U S A. 95 (8): 4667–72. Bibcode:1998PNAS...95.4667K. doi:10.1073/pnas.95.8.4667. PMC 22548. PMID 9539796.
  6. ^ a b "Entrez Gene: SYN3 synapsin III".

Further reading

  • Hosaka M, Südhof TC (1999). "Homo- and heterodimerization of synapsins". J. Biol. Chem. 274 (24): 16747–53. doi:10.1074/jbc.274.24.16747. PMID 10358015.
  • Kao HT, Porton B, Hilfiker S, et al. (2000). "Molecular evolution of the synapsin gene family". J. Exp. Zool. 285 (4): 360–77. doi:10.1002/(SICI)1097-010X(19991215)285:4<360::AID-JEZ4>3.0.CO;2-3. PMID 10578110.
  • Porton B, Kao HT, Greengard P (1999). "Characterization of transcripts from the synapsin III gene locus". J. Neurochem. 73 (6): 2266–71. doi:10.1046/j.1471-4159.1999.0732266.x. PMID 10582583. S2CID 35368177.
  • Dunham I, Shimizu N, Roe BA, et al. (1999). "The DNA sequence of human chromosome 22" (PDF). Nature. 402 (6761): 489–95. Bibcode:1999Natur.402..489D. doi:10.1038/990031. PMID 10591208.
  • Tsai MT, Hung CC, Tsai CY, et al. (2002). "Mutation analysis of synapsin III gene in schizophrenia". Am. J. Med. Genet. 114 (1): 79–83. doi:10.1002/ajmg.10116. PMID 11840510.
  • Jaffrey SR, Benfenati F, Snowman AM, et al. (2002). "Neuronal nitric-oxide synthase localization mediated by a ternary complex with synapsin and CAPON". Proc. Natl. Acad. Sci. U.S.A. 99 (5): 3199–204. Bibcode:2002PNAS...99.3199J. doi:10.1073/pnas.261705799. PMC 122496. PMID 11867766.
  • Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
  • Porton B, Ferreira A, DeLisi LE, Kao HT (2004). "A rare polymorphism affects a mitogen-activated protein kinase site in synapsin III: possible relationship to schizophrenia". Biol. Psychiatry. 55 (2): 118–25. doi:10.1016/j.biopsych.2003.07.002. PMID 14732590. S2CID 20910529.
  • Collins JE, Wright CL, Edwards CA, et al. (2005). "A genome annotation-driven approach to cloning the human ORFeome". Genome Biol. 5 (10): R84. doi:10.1186/gb-2004-5-10-r84. PMC 545604. PMID 15461802.
  • Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
  • Lachman HM, Stopkova P, Rafael MA, Saito T (2005). "Association of schizophrenia in African Americans to polymorphism in synapsin III gene". Psychiatr. Genet. 15 (2): 127–32. doi:10.1097/00041444-200506000-00009. PMID 15900227. S2CID 13481385.
  • Lachman HM, Stopkova P, Papolos DF, et al. (2006). "Analysis of synapsin III-196 promoter mutation in schizophrenia and bipolar disorder". Neuropsychobiology. 53 (2): 57–62. doi:10.1159/000091720. PMID 16511335. S2CID 19172442.
  • Makkar R, Gomez L, Wigg KG, et al. (2007). "The gene for synapsin III and attention-deficit hyperactivity disorder". Psychiatr. Genet. 17 (2): 109–12. doi:10.1097/YPG.0b013e328012a0c6. PMID 17413450. S2CID 28799136.
  • v
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  • 2p0a: The crystal structure of human synapsin III (SYN3) in complex with AMPPNP
    2p0a: The crystal structure of human synapsin III (SYN3) in complex with AMPPNP



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