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. The encoded protein has 313 amino acids with a predicted molecular weight of 33.845 kDa.
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.[8] 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.[9]
^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 Res. 15 (22): 9607. doi:10.1093/nar/15.22.9607. PMC306499. PMID 3120152.
^Calhoun ME, Jucker M, Martin LJ, Thinakaran G, Price DL, Mouton PR (December 1996). "Comparative evaluation of synaptophysin-based methods for quantification of synapses". J. Neurocytol. 25 (12): 821–8. doi:10.1007/BF02284844. PMID 9023727. S2CID 468594.
^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". Proc. Natl. Acad. Sci. U.S.A. 93 (10): 4760–4. Bibcode:1996PNAS...93.4760M. doi:10.1073/pnas.93.10.4760. PMC39352. PMID 8643476.
^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): 234–43. CiteSeerX10.1.1.320.5309. doi:10.1016/j.neuroscience.2009.04.046. PMID 19393300. S2CID 16061817.
^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 (May 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. PMC2872007. PMID 19377476.
^Wiedenmann, B; Franke, WW; Kuhn, C; Moll, R; Gould, VE (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): 3500–4. Bibcode:1986PNAS...83.3500W. doi:10.1073/pnas.83.10.3500. PMC323544. PMID 3010302.
^Leong, Anthony S-Y; Cooper, Kumarason; Leong, F Joel W-M (2003). Manual of Diagnostic Cytology (2 ed.). Greenwich Medical Media, Ltd. pp. 405–406. ISBN978-1-84110-100-2.
^Horikawa HP, Kneussel M, El Far O, Betz H (November 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. S2CID 54366866.
^Wheeler TC, Chin LS, Li Y, Roudabush FL, Li L (March 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.
Further readingedit
Kalina M, Lukinius A, Grimelius L, Höög A, Falkmer S (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, Johnston PA, Willard HF, Francke U, Südhof TC (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. PMC1683862. 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. S2CID 51685991.
de Koning JP, Schelen AM, Dong F, van Buitenen C, Burgering BM, Bos JL, Löwenberg B, Touw IP (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. doi:10.1182/blood.V87.1.132.132. 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, Curci A, Desicato S, D'urso M, Craig IW (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. hdl:11858/00-001M-0000-0012-CBE6-7. PMID 9344658.
Maggiano N, Lauriola L, Serra FG, Ricci R, Capelli A, Ranelletti FO (1999). "Detection of synaptophysin-producing cells in human thymus by immunohistochemistry and nonradioactive in situ hybridization". J. Histochem. Cytochem. 47 (2): 237–43. doi:10.1177/002215549904700212. 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. S2CID 24958759.
Davidsson P, Gottfries J, Bogdanovic N, Ekman R, Karlsson I, Gottfries CG, Blennow K (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. S2CID 22059000.
Cassiman D, van Pelt J, De Vos R, Van Lommel F, Desmet V, Yap SH, Roskams T (1999). "Synaptophysin: A Novel Marker for Human and Rat Hepatic Stellate Cells". Am. J. Pathol. 155 (6): 1831–9. doi:10.1016/S0002-9440(10)65501-0. PMC1866940. 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. S2CID 2623757.
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. S2CID 2178765.
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, 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.
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. S2CID 46792009.
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:10.1523/JNEUROSCI.22-13-05354.2002. PMC6758191. PMID 12097487.
Wistow G, Bernstein SL, Wyatt MK, Ray S, Behal A, Touchman JW, Bouffard G, Smith D, Peterson K (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.
synaptophysin, also, known, major, synaptic, vesicle, protein, protein, that, humans, encoded, gene, sypidentifiersaliasessyp, mrx96, mrxsynaptophysin, xlid96external, idsomim, 313475, 98467, homologene, 2391, genecards, sypgene, location, human, chromosome, h. Synaptophysin also known as the major synaptic vesicle protein p38 is a protein that in humans is encoded by the SYP gene 5 6 SYPIdentifiersAliasesSYP MRX96 MRXsynaptophysin XLID96External IDsOMIM 313475 MGI 98467 HomoloGene 2391 GeneCards SYPGene location Human Chr X chromosome human 1 BandXp11 23Start49 187 815 bp 1 End49 200 218 bp 1 Gene location Mouse Chr X chromosome mouse 2 BandX A1 1 X 3 44 cMStart7 504 710 bp 2 End7 519 495 bp 2 RNA expression patternBgeeHumanMouse ortholog Top expressed inprefrontal cortexBrodmann area 9amygdalaanterior pituitaryBrodmann area 10nucleus accumbensislet of Langerhanshypothalamusputamencaudate nucleusTop expressed inmedial dorsal nucleussuperior frontal gyrussubiculumcerebellar cortexmedial geniculate nucleusdorsomedial hypothalamic nucleusmedial vestibular nucleushabenulaprefrontal cortexdorsal tegmental nucleusMore reference expression dataBioGPSMore reference expression dataGene ontologyMolecular functionSH2 domain binding protein self association cholesterol binding identical protein binding syntaxin 1 bindingCellular componentintegral component of membrane membrane synaptic vesicle synapse excitatory synapse synaptic vesicle membrane presynaptic active zone cell junction terminal bouton integral component of synaptic vesicle membrane neuron projection neuron projection terminus presynaptic membrane cytoplasmic vesicle neuromuscular junction Schaffer collateral CA1 synapse perinuclear region of cytoplasmBiological processcellular response to organic substance regulation of long term neuronal synaptic plasticity endocytosis regulation of opioid receptor signaling pathway regulation of short term neuronal synaptic plasticity synaptic vesicle membrane organization regulation of neuronal synaptic plasticity synaptic vesicle maturation synaptic vesicle endocytosis regulation of synaptic vesicle exocytosisSources Amigo QuickGOOrthologsSpeciesHumanMouseEntrez685520977EnsemblENSG00000102003ENSMUSG00000031144UniProtP08247Q62277RefSeq mRNA NM 003179NM 009305RefSeq protein NP 003170NP 033331Location UCSC Chr X 49 19 49 2 MbChr X 7 5 7 52 MbPubMed search 3 4 WikidataView Edit HumanView Edit Mouse Contents 1 Genomics 2 Molecular biology 3 Clinical importance 4 Interactions 5 See also 6 References 7 Further reading 8 External linksGenomics editThe 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 The encoded protein has 313 amino acids with a predicted molecular weight of 33 845 kDa Molecular biology editThe protein is a synaptic vesicle glycoprotein with four transmembrane domains weighing 38 kDa 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 7 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 8 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 9 Clinical importance editThis gene has been implicated in X linked intellectual disability 10 Using immunohistochemistry synaptophysin can be demonstrated in a range of neural and neuroendocrine tissues 11 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 12 Interactions editSynaptophysin has been shown to interact with AP1G1 13 and SIAH2 14 See also editList of human genes Merkel cell carcinoma although origin of this tumor is unclear it does express synaptophysinReferences edit a b c GRCh38 Ensembl release 89 ENSG00000102003 Ensembl May 2017 a b c GRCm38 Ensembl release 89 ENSMUSG00000031144 Ensembl May 2017 Human PubMed Reference National Center for Biotechnology Information U S National Library of Medicine Mouse PubMed Reference National Center for Biotechnology Information U S National Library of Medicine Entrez Gene SYP synaptophysin Sudhof 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 Res 15 22 9607 doi 10 1093 nar 15 22 9607 PMC 306499 PMID 3120152 Calhoun ME Jucker M Martin LJ Thinakaran G Price DL Mouton PR December 1996 Comparative evaluation of synaptophysin based methods for quantification of synapses J Neurocytol 25 12 821 8 doi 10 1007 BF02284844 PMID 9023727 S2CID 468594 McMahon HT Bolshakov VY Janz R Hammer RE Siegelbaum SA Sudhof TC May 1996 Synaptophysin a major synaptic vesicle protein is not essential for neurotransmitter release Proc Natl Acad Sci U S A 93 10 4760 4 Bibcode 1996PNAS 93 4760M doi 10 1073 pnas 93 10 4760 PMC 39352 PMID 8643476 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 43 CiteSeerX 10 1 1 320 5309 doi 10 1016 j neuroscience 2009 04 046 PMID 19393300 S2CID 16061817 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 May 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 Wiedenmann B Franke WW Kuhn C Moll R Gould VE 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 4 Bibcode 1986PNAS 83 3500W doi 10 1073 pnas 83 10 3500 PMC 323544 PMID 3010302 Leong Anthony S Y Cooper Kumarason Leong F Joel W M 2003 Manual of Diagnostic Cytology 2 ed Greenwich Medical Media Ltd pp 405 406 ISBN 978 1 84110 100 2 Horikawa HP Kneussel M El Far O Betz H November 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 S2CID 54366866 Wheeler TC Chin LS Li Y Roudabush FL Li L March 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 Further reading editKalina M Lukinius A Grimelius L Hoog A Falkmer S 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 Ozcelik T Lafreniere RG Archer BT Johnston PA Willard HF Francke U Sudhof TC 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 PMC 1683862 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 S2CID 51685991 de Koning JP Schelen AM Dong F van Buitenen C Burgering BM Bos JL Lowenberg B Touw IP 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 doi 10 1182 blood V87 1 132 132 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 Curci A Desicato S D urso M Craig IW 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 hdl 11858 00 001M 0000 0012 CBE6 7 PMID 9344658 Maggiano N Lauriola L Serra FG Ricci R Capelli A Ranelletti FO 1999 Detection of synaptophysin producing cells in human thymus by immunohistochemistry and nonradioactive in situ hybridization J Histochem Cytochem 47 2 237 43 doi 10 1177 002215549904700212 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 S2CID 24958759 Davidsson P Gottfries J Bogdanovic N Ekman R Karlsson I Gottfries CG Blennow K 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 S2CID 22059000 Cassiman D van Pelt J De Vos R Van Lommel F Desmet V Yap SH Roskams T 1999 Synaptophysin A Novel Marker for Human and Rat Hepatic Stellate Cells Am J Pathol 155 6 1831 9 doi 10 1016 S0002 9440 10 65501 0 PMC 1866940 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 S2CID 2623757 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 S2CID 2178765 Bhangu PS Genever PG Spencer GJ Grewal TS Skerry TM 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 Kuhnel 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 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 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 S2CID 46792009 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 10 1523 JNEUROSCI 22 13 05354 2002 PMC 6758191 PMID 12097487 Wistow G Bernstein SL Wyatt MK Ray S Behal A Touchman JW Bouffard G Smith D Peterson K 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 External links editSynaptophysin at the U S National Library of Medicine Medical Subject Headings MeSH Retrieved from https en wikipedia org w index php title Synaptophysin amp oldid 1173667919, wikipedia, wiki, book, books, library,
