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突觸素

突觸素
識別號
别名SYP;, MRX96, MRXsynaptophysin, XLID96
外部IDOMIM313475 MGI98467 HomoloGene:2391 GeneCardsSYP
相關疾病
non-syndromic X-linked intellectual disability[1]
基因位置(人类
X染色體
染色体X染色體[2]
X染色體
突觸素的基因位置
突觸素的基因位置
基因座Xp11.23起始49,187,815 bp[2]
终止49,200,218 bp[2]
RNA表达模式
查阅更多表达数据
直系同源
物種人類小鼠
Entrez
Ensembl
UniProt
mRNA​序列

NM_003179

NM_009305

蛋白序列

NP_003170

NP_033331

基因位置​(UCSC)Chr X: 49.19 – 49.2 MbChr X: 7.5 – 7.52 Mb
PubMed​查找[4][5]
維基數據
檢視/編輯人類檢視/編輯小鼠

突觸素(Synaptophysin),又稱主要突觸小泡蛋白p38(major synaptic vesicle protein p38),是一種人體中由「SYP基因轉譯而成的蛋白質[6][7]

遺傳學

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該基因位於X染色體的短臂上(Xp11.23-p11.22),約由12,406個鹼基對所構成,位於反義股上。該蛋白由313個胺基所構成,分子量約為33.845kDa

分子生物學

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該蛋白質為突触小泡上的醣蛋白,擁有四個穿膜區。該蛋白主要表現於神經內分泌細胞,基本上只要擁有突觸傳輸功能的神經元皆會表達。在免疫染色組織學上,該蛋白常被作為神經內分泌腫瘤的標誌蛋白,或是用於突觸豐度的定量[8]

目前該蛋白的確切功能尚未闡明,僅知他會與重要的突觸蛋白synaptobrevin英语synaptobrevin產生交互作用。但在動物實驗中,即使將突觸素的基因敲除,似乎並沒有對動物的發育或功能上產生任何影響[9]。近期研究顯示,突觸素的缺失可能導致小鼠出現行為異常,例如探索行為增加、新奇物辨識(object novelty recognition),以及空間感上產生影響[10]

交互作用

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突觸素可與AP1G1英语AP1G1[11]SIAH2英语SIAH2[12]產生交互作用

參見

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參考文獻

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  1. ^ 與突觸素相關的疾病;在維基數據上查看/編輯參考. 
  2. ^ 2.0 2.1 2.2 GRCh38: Ensembl release 89: ENSG00000102003 - Ensembl, May 2017
  3. ^ 3.0 3.1 3.2 GRCm38: Ensembl release 89: ENSMUSG00000031144 - Ensembl, May 2017
  4. ^ Human PubMed Reference:. National Center for Biotechnology Information, U.S. National Library of Medicine. 
  5. ^ Mouse PubMed Reference:. National Center for Biotechnology Information, U.S. National Library of Medicine. 
  6. ^ Entrez Gene: SYP synaptophysin. [2021-01-14]. (原始内容存档于2010-12-05). 
  7. ^ Südhof TC, Lottspeich F, Greengard P, Mehl E, Jahn R. The cDNA and derived amino acid sequences for rat and human synaptophysin. Nucleic Acids Res. November 1987, 15 (22): 9607. PMC 306499可免费查阅. PMID 3120152. doi:10.1093/nar/15.22.9607. 
  8. ^ Calhoun ME, Jucker M英语Mathias Jucker (neuroscientist), Martin LJ, Thinakaran G, Price DL, Mouton PR. Comparative evaluation of synaptophysin-based methods for quantification of synapses. J. Neurocytol. December 1996, 25 (12): 821–8. PMID 9023727. doi:10.1007/BF02284844.  温哥华格式错误 (帮助)
  9. ^ McMahon HT, Bolshakov VY, Janz R, Hammer RE, Siegelbaum SA, Südhof TC. Synaptophysin, a major synaptic vesicle protein, is not essential for neurotransmitter release. Proc. Natl. Acad. Sci. U.S.A. May 1996, 93 (10): 4760–4. Bibcode:1996PNAS...93.4760M. PMC 39352可免费查阅. PMID 8643476. doi:10.1073/pnas.93.10.4760. 
  10. ^ Schmitt U, Tanimoto N, Seeliger M, Schaeffel F, Leube RE. Detection of behavioral alterations and learning deficits in mice lacking synaptophysin. Neuroscience. August 2009, 162 (2): 234–43. CiteSeerX 10.1.1.320.5309可免费查阅. PMID 19393300. doi:10.1016/j.neuroscience.2009.04.046. 
  11. ^ Horikawa HP, Kneussel M, El Far O, Betz H. Interaction of synaptophysin with the AP-1 adaptor protein gamma-adaptin. Mol. Cell. Neurosci. November 2002, 21 (3): 454–62. PMID 12498786. doi:10.1006/mcne.2002.1191. 
  12. ^ Wheeler TC, Chin LS, Li Y, Roudabush FL, Li L. Regulation of synaptophysin degradation by mammalian homologues of seven in absentia. J. Biol. Chem. March 2002, 277 (12): 10273–82. PMID 11786535. doi:10.1074/jbc.M107857200可免费查阅. 

延伸閱讀

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外部連結

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Template:Tumor markers Template:Nerve tissue protein

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突觸素
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