Synaptophysin

	Synaptophysin
	Identifiers
Symbols	SYP;
External IDs	OMIM: 313475 MGI: 98467 HomoloGene: 2391
Gene ontology
Molecular function:	• transporter activity; • calcium ion binding; • protein binding; • cholesterol binding;
Cellular component:	• membrane; • synaptosome; • integral to synaptic vesicle membrane; • synapse;
Biological process:	• transport; • synaptic vesicle maturation; • synaptic vesicle membrane organization and biogenesis;
	RNA expression pattern
	More reference expression data
	Orthologs

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Synaptophysin can refer both to the vesicle membrane protein as well as the gene (also known as SYP^[1]) that encodes it.

[edit] 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.

[edit] 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 lead to the use of synaptophysin immunostaining for quantification of synapses^[2].

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^[3].

[edit] Clinical importance

This gene has been implicated in X linked mental retardation.^[4]

[edit] See also

List of human genes

[edit] References

^ "Entrez Gene: SYP synaptophysin". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6855.
^ M E Calhoun, M Jucker, L J Martin, et al. (1996). "Comparative evaluation of synaptophysin-based methods for quantification of synapses.". Journal of Neurocytology 25 (12): 821–828. doi:10.1007/BF02284844. PMID 9023727.
^ H T McMahon, V Y Bolshakov, R Janz, et al. (1996). "Synaptophysin, a major synaptic vesicle protein, is not essential for neurotransmitter release". Proceedings of the National Academy of Sciences 93 (3): 4760–4764. doi:10.1073/pnas.93.10.4760. PMID 8643476.
^ Tarpey PS, Smith R, Pleasance E, Whibley A, Edkins S, Hardy C, O'Meara S, Latimer C, Dicks E, Menzies A, Stephens P, Blow M, Greenman C, Xue Y, Tyler-Smith C, Thompson D, Gray K, Andrews J, Barthorpe S, Buck G, Cole J, Dunmore R, Jones D, Maddison M, Mironenko T, Turner R, Turrell K, Varian J, West S, Widaa S, Wray P, Teague J, Butler A, Jenkinson A, Jia M, Richardson D, Shepherd R, Wooster R, Tejada MI, Martinez F, Carvill G, Goliath R, de Brouwer AP, van Bokhoven H, Van Esch H, Chelly J, Raynaud M, Ropers HH, Abidi FE, Srivastava AK, Cox J, Luo Y, Mallya U, Moon J, Parnau J, Mohammed S, Tolmie JL, Shoubridge C, Corbett M, Gardner A, Haan E, Rujirabanjerd S, Shaw M, Vandeleur L, Fullston T, Easton DF, Boyle J, Partington M, Hackett A, Field M, Skinner C, Stevenson RE, Bobrow M, Turner G, Schwartz CE, Gecz J, Raymond FL, Futreal PA, Stratton MR.(2009) A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation. Nat. Genet.

[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. doi:10.1093/nar/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. doi:10.1097/00000478-199603000-00002. 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. doi:10.1016/S0920-9964(99)00037-7. 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. doi:10.1016/S0940-9602(01)80177-1. 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. doi:10.1159/000058546. 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 (inactive 2008-06-22). 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

MeSH Synaptophysin

This article on a gene on the X chromosome and/or its associated protein is a stub. You can help Wikipedia by expanding it.

[entrez-0] "Entrez Gene: SYP synaptophysin". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6855.

[1] M E Calhoun, M Jucker, L J Martin, et al. (1996). "Comparative evaluation of synaptophysin-based methods for quantification of synapses.". Journal of Neurocytology 25 (12): 821–828. doi:10.1007/BF02284844. PMID 9023727.

[2] H T McMahon, V Y Bolshakov, R Janz, et al. (1996). "Synaptophysin, a major synaptic vesicle protein, is not essential for neurotransmitter release". Proceedings of the National Academy of Sciences 93 (3): 4760–4764. doi:10.1073/pnas.93.10.4760. PMID 8643476.

[Tarpey2009-3] Tarpey PS, Smith R, Pleasance E, Whibley A, Edkins S, Hardy C, O'Meara S, Latimer C, Dicks E, Menzies A, Stephens P, Blow M, Greenman C, Xue Y, Tyler-Smith C, Thompson D, Gray K, Andrews J, Barthorpe S, Buck G, Cole J, Dunmore R, Jones D, Maddison M, Mironenko T, Turner R, Turrell K, Varian J, West S, Widaa S, Wray P, Teague J, Butler A, Jenkinson A, Jia M, Richardson D, Shepherd R, Wooster R, Tejada MI, Martinez F, Carvill G, Goliath R, de Brouwer AP, van Bokhoven H, Van Esch H, Chelly J, Raynaud M, Ropers HH, Abidi FE, Srivastava AK, Cox J, Luo Y, Mallya U, Moon J, Parnau J, Mohammed S, Tolmie JL, Shoubridge C, Corbett M, Gardner A, Haan E, Rujirabanjerd S, Shaw M, Vandeleur L, Fullston T, Easton DF, Boyle J, Partington M, Hackett A, Field M, Skinner C, Stevenson RE, Bobrow M, Turner G, Schwartz CE, Gecz J, Raymond FL, Futreal PA, Stratton MR.(2009) A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation. Nat. Genet.

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Synaptophysin

From Wikipedia, the free encyclopedia

Contents

[edit] Genomics

[edit] Molecular biology

[edit] Clinical importance

[edit] See also

[edit] References

[edit] Further reading

[edit] External links

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