突触素

突触素
识别号
别名	SYP；, MRX96, MRXsynaptophysin, XLID96
外部ID	OMIM：313475 MGI：98467 HomoloGene：2391 GeneCards：SYP
相关疾病
	non-syndromic X-linked intellectual disability[1]
基因位置（人类）
染色体	X染色体[2]
终止	49,200,218 bp[2]
基因位置（小鼠）
染色体	小鼠X染色体[3]
终止	7,519,495 bp[3]
RNA表达模式
	查阅更多表达数据
基因本体
分子功能	• SH2 domain binding; • 蛋白质自缔合; • cholesterol binding; • 相同蛋白质结合; • syntaxin-1 binding;
细胞组分	• integral component of membrane; • 膜; • 突触小泡; • 突触; • 兴奋性突触; • synaptic vesicle membrane; • presynaptic active zone; • 细胞连接; • 末梢神经; • integral component of synaptic vesicle membrane; • neuron projection; • neuron projection terminus; • presynaptic membrane; • cytoplasmic vesicle; • 神经肌肉接点; • Schaffer collateral - CA1 synapse; • 细胞质的核周区域;
生物学过程	• cellular response to organic substance; • regulation of long-term neuronal synaptic plasticity; • 内吞作用; • 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 exocytosis;
	Sources:Amigo / QuickGO
直系同源
	6855
	20977
	ENSG00000102003
	ENSMUSG00000031144
	P08247
	Q62277
	NM_003179
	NM_009305
	NP_003170
	NP_033331
	维基数据

突触素（Synaptophysin），又称主要突触小泡蛋白p38（major synaptic vesicle protein p38），是一种人体中由「SYP」基因转译而成的蛋白质[6][7]。

遗传学

该基因位于X染色体的短臂上（Xp11.23-p11.22），约由12,406个碱基对所构成，位于反义股上。该蛋白由313个胺基所构成，分子量约为33.845kDa。

分子生物学

该蛋白质为突触小泡上的糖蛋白，拥有四个穿膜区。该蛋白主要表现于神经内分泌细胞，基本上只要拥有突触传输功能的神经元皆会表达。在免疫染色组织学上，该蛋白常被作为神经内分泌肿瘤的标志蛋白，或是用于突触丰度的定量[8]。

目前该蛋白的确切功能尚未阐明，仅知他会与重要的突触蛋白synaptobrevin产生交互作用。但在动物实验中，即使将突触素的基因敲除，似乎并没有对动物的发育或功能上产生任何影响[9]。近期研究显示，突触素的缺失可能导致小鼠出现行为异常，例如探索行为增加、新奇物辨识（object novelty recognition），以及空间感上产生影响[10]。

交互作用

突触素可与AP1G1[11]和SIAH2[12]产生交互作用。

参见

人类基因列表

参考文献

.
GRCh38: Ensembl release 89: ENSG00000102003 - Ensembl, May 2017
GRCm38: Ensembl release 89: ENSMUSG00000031144 - Ensembl, May 2017
. National Center for Biotechnology Information, U.S. National Library of Medicine.
. National Center for Biotechnology Information, U.S. National Library of Medicine.
. [2021-01-14]. （原始内容存档于2010-12-05）.
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Calhoun ME, Jucker M, Martin LJ, Thinakaran G, Price DL, Mouton PR. . J. Neurocytol. December 1996, 25 (12): 821–8. PMID 9023727. doi:10.1007/BF02284844. 温哥华格式错误 (帮助)
McMahon HT, Bolshakov VY, Janz R, Hammer RE, Siegelbaum SA, Südhof TC. . Proc. Natl. Acad. Sci. U.S.A. May 1996, 93 (10): 4760–4. Bibcode:1996PNAS...93.4760M. PMC 39352 . PMID 8643476. doi:10.1073/pnas.93.10.4760.
Schmitt U, Tanimoto N, Seeliger M, Schaeffel F, Leube RE. . Neuroscience. August 2009, 162 (2): 234–43. CiteSeerX 10.1.1.320.5309 . PMID 19393300. doi:10.1016/j.neuroscience.2009.04.046.
Horikawa HP, Kneussel M, El Far O, Betz H. . Mol. Cell. Neurosci. November 2002, 21 (3): 454–62. PMID 12498786. doi:10.1006/mcne.2002.1191.
Wheeler TC, Chin LS, Li Y, Roudabush FL, Li L. . J. Biol. Chem. March 2002, 277 (12): 10273–82. PMID 11786535. doi:10.1074/jbc.M107857200 .

延伸阅读

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外部链接

医学主题词表（MeSH）：Synaptophysin

Template:Tumor markers Template:Nerve tissue protein

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[1] .

[refGRCh38Ensembl-2] GRCh38: Ensembl release 89: ENSG00000102003 - Ensembl, May 2017

[refGRCm38Ensembl-3] GRCm38: Ensembl release 89: ENSMUSG00000031144 - Ensembl, May 2017

[4] . National Center for Biotechnology Information, U.S. National Library of Medicine.

[5] . National Center for Biotechnology Information, U.S. National Library of Medicine.

[entrez-6] . [2021-01-14]. （原始内容存档于2010-12-05）.

[pmid3120152-7] Südhof TC, Lottspeich F, Greengard P, Mehl E, Jahn R. . Nucleic Acids Res. November 1987, 15 (22): 9607. PMC 306499 . PMID 3120152. doi:10.1093/nar/15.22.9607.

[pmid9023727-8] Calhoun ME, Jucker M, Martin LJ, Thinakaran G, Price DL, Mouton PR. . J. Neurocytol. December 1996, 25 (12): 821–8. PMID 9023727. doi:10.1007/BF02284844. 温哥华格式错误 (帮助)

[pmid8643476-9] McMahon HT, Bolshakov VY, Janz R, Hammer RE, Siegelbaum SA, Südhof TC. . Proc. Natl. Acad. Sci. U.S.A. May 1996, 93 (10): 4760–4. Bibcode:1996PNAS...93.4760M. PMC 39352 . PMID 8643476. doi:10.1073/pnas.93.10.4760.

[pmid19393300-10] Schmitt U, Tanimoto N, Seeliger M, Schaeffel F, Leube RE. . Neuroscience. August 2009, 162 (2): 234–43. CiteSeerX 10.1.1.320.5309 . PMID 19393300. doi:10.1016/j.neuroscience.2009.04.046.

[pmid12498786-11] Horikawa HP, Kneussel M, El Far O, Betz H. . Mol. Cell. Neurosci. November 2002, 21 (3): 454–62. PMID 12498786. doi:10.1006/mcne.2002.1191.

[pmid11786535-12] Wheeler TC, Chin LS, Li Y, Roudabush FL, Li L. . J. Biol. Chem. March 2002, 277 (12): 10273–82. PMID 11786535. doi:10.1074/jbc.M107857200 .