Synaptophysin

Last updated

SYP
Identifiers
Aliases SYP , MRX96, MRXsynaptophysin, XLID96
External IDs OMIM: 313475; MGI: 98467; HomoloGene: 2391; GeneCards: SYP; OMA:SYP - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_003179

NM_009305

RefSeq (protein)

NP_003170

NP_033331

Location (UCSC) Chr X: 49.19 – 49.2 Mb Chr X: 7.5 – 7.52 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Synaptophysin, also known as the major synaptic vesicle protein p38, is a protein that in humans is encoded by the SYP gene. [5] [6]

Contents

Gene

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 minus strand.

Tissue distribution

It is expressed in neuroendocrine cells and in virtually all neurons in the brain and spinal cord that participate in synaptic transmission.

Structure

The protein is a synaptic vesicle glycoprotein with four transmembrane domains weighing 38 kDa.

Function

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. [7] 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. [8]

Clinical significance

Biomarker

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. [9]

Using immunohistochemistry, synaptophysin can be demonstrated in a range of neural and neuroendocrine tissues, [10] including cells of the adrenal medulla and pancreatic islets. As a specific marker for these tissues, it can be used to identify tumours arising from them, such as neuroblastoma, retinoblastoma, phaeochromocytoma, carcinoid, small-cell carcinoma, medulloblastoma and medullary thyroid carcinoma, among others. Diagnostically, it is often used in combination with chromogranin A. [11]

X-linked intellectual disability

Mutations in this gene have been implicated in X-linked intellectual disability. [12]

Interactions

Synaptophysin has been shown to interact with AP1G1 [13] and SIAH2. [14]

See also

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000102003 Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000031144 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. "Entrez Gene: SYP synaptophysin".
  6. Südhof TC, Lottspeich F, Greengard P, Mehl E, Jahn R (November 1987). "The cDNA and derived amino acid sequences for rat and human synaptophysin". Nucleic Acids Research. 15 (22): 9607. doi:10.1093/nar/15.22.9607. PMC   306499 . PMID   3120152.
  7. McMahon HT, Bolshakov VY, Janz R, Hammer RE, Siegelbaum SA, Südhof TC (May 1996). "Synaptophysin, a major synaptic vesicle protein, is not essential for neurotransmitter release". Proceedings of the National Academy of Sciences of the United States of America. 93 (10): 4760–4764. Bibcode:1996PNAS...93.4760M. doi: 10.1073/pnas.93.10.4760 . PMC   39352 . PMID   8643476.
  8. Schmitt U, Tanimoto N, Seeliger M, Schaeffel F, Leube RE (August 2009). "Detection of behavioral alterations and learning deficits in mice lacking synaptophysin". Neuroscience. 162 (2): 234–243. CiteSeerX   10.1.1.320.5309 . doi:10.1016/j.neuroscience.2009.04.046. PMID   19393300. S2CID   16061817.
  9. Calhoun ME, Jucker M, Martin LJ, Thinakaran G, Price DL, Mouton PR (December 1996). "Comparative evaluation of synaptophysin-based methods for quantification of synapses". Journal of Neurocytology. 25 (12): 821–828. doi:10.1007/BF02284844. PMID   9023727. S2CID   468594.
  10. Wiedenmann B, Franke W, Kuhn C, Moll R, Gould V (May 1986). "Synaptophysin: a marker protein for neuroendocrine cells and neoplasms". Proceedings of the National Academy of Sciences of the United States of America. 83 (10): 3500–3504. Bibcode:1986PNAS...83.3500W. doi: 10.1073/pnas.83.10.3500 . PMC   323544 . PMID   3010302.
  11. Leong AS, Cooper K, Leong FJ (2003). Manual of Diagnostic Cytology (2 ed.). Greenwich Medical Media, Ltd. pp. 405–406. ISBN   978-1-84110-100-2.
  12. Tarpey PS, Smith R, Pleasance E, Whibley A, Edkins S, Hardy C, et al. (May 2009). "A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation". Nature Genetics. 41 (5): 535–543. doi:10.1038/ng.367. PMC   2872007 . PMID   19377476.
  13. Horikawa HP, Kneussel M, El Far O, Betz H (November 2002). "Interaction of synaptophysin with the AP-1 adaptor protein gamma-adaptin". Molecular and Cellular Neurosciences. 21 (3): 454–462. doi:10.1006/mcne.2002.1191. PMID   12498786. S2CID   54366866.
  14. Wheeler TC, Chin LS, Li Y, Roudabush FL, Li L (March 2002). "Regulation of synaptophysin degradation by mammalian homologues of seven in absentia". Journal of Biological Chemistry. 277 (12): 10273–10282. doi: 10.1074/jbc.M107857200 . PMID   11786535.

Further reading