Synaptophysin
Synaptophysin, also known as the major synaptic vesicle protein p38, is a protein that in humans is encoded by the SYP gene.[1][2]
Genomics
The gene is located on the short arm of X chromosome (Xp11.23-p11.22). It is 12,406 bases in length and lies on the Crick (minus) strand. The encoded protein has 313 amino acids with a predicted molecular weight of 33.845 kDa.
Molecular biology
The protein is a synaptic vesicle glycoprotein with four transmembrane domains weighing 38kDa. It is present in neuroendocrine cells and in virtually all neurons in the brain and spinal cord that participate in synaptic transmission. It acts as a marker for neuroendocrine tumors, and its ubiquity at the synapse has led to the use of synaptophysin immunostaining for quantification of synapses.[3]
The exact function of the protein is unknown: it interacts with the essential synaptic vesicle protein synaptobrevin, but when the synaptophysin gene is experimentally inactivated in animals, they still develop and function normally.[4] Recent research has shown, however, that elimination of synaptophysin in mice creates behavioral changes such as increased exploratory behavior, impaired object novelty recognition, and reduced spatial learning.[5]
Clinical importance
This gene has been implicated in X linked mental retardation.[6]
See also
Interactions
Synaptophysin has been shown to interact with AP1G1[7] and SIAH2.[8]
References
- ^ "Entrez Gene: SYP synaptophysin".
- ^ Südhof TC, Lottspeich F, Greengard P, Mehl E, Jahn R (1987). "The cDNA and derived amino acid sequences for rat and human synaptophysin". Nucleic Acids Res. 15 (22): 9607. doi:10.1093/nar/15.22.9607. PMC 306499. PMID 3120152.
{{cite journal}}: Unknown parameter|month=ignored (help)CS1 maint: multiple names: authors list (link) - ^ Calhoun ME, Jucker M, Martin LJ, Thinakaran G, Price DL, Mouton PR (1996). "Comparative evaluation of synaptophysin-based methods for quantification of synapses". J. Neurocytol. 25 (12): 821–8. doi:10.1007/BF02284844. PMID 9023727.
{{cite journal}}: Unknown parameter|month=ignored (help)CS1 maint: multiple names: authors list (link) - ^ McMahon HT, Bolshakov VY, Janz R, Hammer RE, Siegelbaum SA, Südhof TC (1996). "Synaptophysin, a major synaptic vesicle protein, is not essential for neurotransmitter release". Proc. Natl. Acad. Sci. U.S.A. 93 (10): 4760–4. doi:10.1073/pnas.93.10.4760. PMC 39352. PMID 8643476.
{{cite journal}}: Unknown parameter|month=ignored (help)CS1 maint: multiple names: authors list (link) - ^ Schmitt U, Tanimoto N, Seeliger M, Schaeffel F, Leube RE (2009). "Detection of behavioral alterations and learning deficits in mice lacking synaptophysin". Neuroscience. 162 (2): 234–43. doi:10.1016/j.neuroscience.2009.04.046. PMID 19393300.
{{cite journal}}: Unknown parameter|month=ignored (help)CS1 maint: multiple names: authors list (link) - ^ Tarpey PS, Smith R, Pleasance E; et al. (2009). "A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation". Nat. Genet. 41 (5): 535–43. doi:10.1038/ng.367. PMC 2872007. PMID 19377476.
{{cite journal}}: Explicit use of et al. in:|author=(help); Unknown parameter|month=ignored (help)CS1 maint: multiple names: authors list (link) - ^ Horikawa HP, Kneussel M, El Far O, Betz H (2002). "Interaction of synaptophysin with the AP-1 adaptor protein gamma-adaptin". Mol. Cell. Neurosci. 21 (3): 454–62. doi:10.1006/mcne.2002.1191. PMID 12498786.
{{cite journal}}: Unknown parameter|month=ignored (help)CS1 maint: multiple names: authors list (link) - ^ Wheeler TC, Chin LS, Li Y, Roudabush FL, Li L (2002). "Regulation of synaptophysin degradation by mammalian homologues of seven in absentia". J. Biol. Chem. 277 (12): 10273–82. doi:10.1074/jbc.M107857200. PMID 11786535.
{{cite journal}}: Unknown parameter|month=ignored (help)CS1 maint: multiple names: authors list (link) CS1 maint: unflagged free DOI (link)
Further reading
External links
- Synaptophysin at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
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