Synaptophysin

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Synaptophysin
Identifiers
Symbol(s) SYP;
External IDs OMIM: 313475 MGI: 98467 HomoloGene: 2391
RNA expression pattern

More reference expression data
Orthologs
Human Mouse
Entrez 6855 20977
Ensembl ENSG00000102003 ENSMUSG00000031144
Uniprot P08247 Q62277
Refseq NM_003179 (mRNA)
NP_003170 (protein)		 NM_009305 (mRNA)
NP_033331 (protein)
Location Chr X: 48.93 - 48.94 Mb Chr X: 6.8 - 6.81 Mb
Pubmed search [1] [2]

Synaptophysin, also known as SYP, is a human gene.[1]

The protein encoded by this gene 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.

The gene for this protein is located on the X chromosome (Xp11.23-p11.22). 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.

[edit] References

  1. ^ Entrez Gene: SYP synaptophysin.

[edit] Further reading

  • Kalina M, Lukinius A, Grimelius L, et al. (1991). "Ultrastructural localization of synaptophysin to the secretory granules of normal glucagon and insulin cells in human islets of Langerhans.". Ultrastructural pathology 15 (3): 215-9. doi:10.3109/01913129109021883. PMID 1908157. 
  • Ozçelik T, Lafreniere RG, Archer BT, et al. (1990). "Synaptophysin: structure of the human gene and assignment to the X chromosome in man and mouse.". Am. J. Hum. Genet. 47 (3): 551-61. PMID 1975480. 
  • Goto S, Hirano A, Pearson J (1990). "Calcineurin and synaptophysin in the human spinal cord of normal individuals and patients with familial dysautonomia.". Acta Neuropathol. 79 (6): 647-52. doi:10.1007/BF00294243. PMID 2163183. 
  • Südhof TC, Lottspeich F, Greengard P, et al. (1988). "The cDNA and derived amino acid sequences for rat and human synaptophysin.". Nucleic Acids Res. 15 (22): 9607. PMID 3120152. 
  • de Koning JP, Schelen AM, Dong F, et al. (1996). "Specific involvement of tyrosine 764 of human granulocyte colony-stimulating factor receptor in signal transduction mediated by p145/Shc/GRB2 or p90/GRB2 complexes.". Blood 87 (1): 132-40. PMID 8547634. 
  • Zhang PJ, Rosenblum MK (1997). "Synaptophysin expression in the human spinal cord. Diagnostic implications of an immunohistochemical study.". Am. J. Surg. Pathol. 20 (3): 273-6. PMID 8772779. 
  • Bouwens L, Lu WG, De Krijger R (1997). "Proliferation and differentiation in the human fetal endocrine pancreas.". Diabetologia 40 (4): 398-404. doi:10.1007/s001250050693. PMID 9112016. 
  • Fisher SE, Ciccodicola A, Tanaka K, et al. (1998). "Sequence-based exon prediction around the synaptophysin locus reveals a gene-rich area containing novel genes in human proximal Xp.". Genomics 45 (2): 340-7. doi:10.1006/geno.1997.4941. PMID 9344658. 
  • Maggiano N, Lauriola L, Serra FG, et al. (1999). "Detection of synaptophysin-producing cells in human thymus by immunohistochemistry and nonradioactive in situ hybridization.". J. Histochem. Cytochem. 47 (2): 237-43. PMID 9889259. 
  • Portela-Gomes GM, Stridsberg M, Johansson H, Grimelius L (1999). "Co-localization of synaptophysin with different neuroendocrine hormones in the human gastrointestinal tract.". Histochem. Cell Biol. 111 (1): 49-54. doi:10.1007/s004180050332. PMID 9930883. 
  • Davidsson P, Gottfries J, Bogdanovic N, et al. (1999). "The synaptic-vesicle-specific proteins rab3a and synaptophysin are reduced in thalamus and related cortical brain regions in schizophrenic brains.". Schizophrenia Research 40 (1): 23-9. PMID 10541003. 
  • Cassiman D, van Pelt J, De Vos R, et al. (1999). "Synaptophysin: A novel marker for human and rat hepatic stellate cells.". Am. J. Pathol. 155 (6): 1831-9. PMID 10595912. 
  • Thiele C, Hannah MJ, Fahrenholz F, Huttner WB (2000). "Cholesterol binds to synaptophysin and is required for biogenesis of synaptic vesicles.". Nat. Cell Biol. 2 (1): 42-9. doi:10.1038/71366. PMID 10620806. 
  • Nag TC, Wadhwa S (2001). "Differential expression of syntaxin-1 and synaptophysin in the developing and adult human retina.". J. Biosci. 26 (2): 179-91. doi:10.1007/BF02703642. PMID 11426054. 
  • Bhangu PS, Genever PG, Spencer GJ, et al. (2001). "Evidence for targeted vesicular glutamate exocytosis in osteoblasts.". Bone 29 (1): 16-23. doi:10.1016/S8756-3282(01)00482-3. PMID 11472886. 
  • Roudenok V, Kühnel W (2001). "The development of synaptophysin immunoreactivity in the human sympathetic ganglia.". Ann. Anat. 183 (4): 345-51. PMID 11508360. 
  • Wheeler TC, Chin LS, Li Y, et al. (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. 
  • Ulfig N, Chan WY (2003). "Expression of a kinase anchoring protein 79 and synaptophysin in the developing human red nucleus.". Neurosignals 11 (2): 95-102. PMID 12077483. 
  • Yao I, Iida J, Nishimura W, Hata Y (2002). "Synaptic and nuclear localization of brain-enriched guanylate kinase-associated protein.". J. Neurosci. 22 (13): 5354-64. doi:20026505. PMID 12097487. 
  • Wistow G, Bernstein SL, Wyatt MK, et al. (2002). "Expressed sequence tag analysis of human retina for the NEIBank Project: retbindin, an abundant, novel retinal cDNA and alternative splicing of other retina-preferred gene transcripts.". Mol. Vis. 8: 196-204. PMID 12107411. 

[edit] External links

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