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Synaptophysin, also known as the major synaptic vesicle protein p38, is a protein that in humans is encoded by the SYP gene.^[1]^[2]

Genomics[edit]

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.

Molecular biology[edit]

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 led to the use of synaptophysin immunostaining for quantification of synapses.^[3]

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.^[4] 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.^[5]

Clinical importance[edit]

This gene has been implicated in X linked mental retardation.^[6]

Using immunohistochemistry, synaptophysin can be demonstrated in a range of neural and neuroendocrine tissues, 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, and medullary thyroid carcinoma, among others. Diagnostically, it is often used in combination with chromogranin A.^[7]

Interactions[edit]

Synaptophysin has been shown to interact with AP1G1^[8] and SIAH2.^[9]

References[edit]

^ "Entrez Gene: SYP synaptophysin".
^ 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. 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.
^ 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. 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. doi:10.1016/j.neuroscience.2009.04.046. PMID 19393300.
^ Tarpey PS, Smith R, Pleasance E, et al. (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.
^ 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 1-84110-100-1.
^ 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.
^ 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.

External links[edit]

Synaptophysin at the US National Library of Medicine Medical Subject Headings (MeSH)

UpToDate Contents

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1. 原発不明の神経内分泌腫瘍 neuroendocrine cancer of unknown primary site
2. 消化器における神経内分泌腫瘍の発生の病理、分類、および重症度分類 pathology classification and grading of neuroendocrine tumors arising in the digestive system
3. 肺悪性腫瘍の病理 pathology of lung malignancies
4. 子宮頸部の小細胞神経内分泌癌 small cell neuroendocrine carcinoma of the cervix
5. 小細胞肺癌の病理および病期分類 pathobiology and staging of small cell carcinoma of the lung

English Journal

Neuroblastoma patient-derived orthotopic xenografts retain metastatic patterns and geno- and phenotypes of patient tumours.

Braekeveldt N1, Wigerup C, Gisselsson D, Mohlin S, Merselius M, Beckman S, Jonson T, Börjesson A, Backman T, Tadeo I, Berbegall AP, Ora I, Navarro S, Noguera R, Påhlman S, Bexell D.
International journal of cancer. Journal international du cancer.Int J Cancer.2015 Mar 1;136(5):E252-61. doi: 10.1002/ijc.29217. Epub 2014 Oct 7.
Neuroblastoma is a childhood tumour with heterogeneous characteristics and children with metastatic disease often have a poor outcome. Here we describe the establishment of neuroblastoma patient-derived xenografts (PDXs) by orthotopic implantation of viably cryopreserved or fresh tumour explants of
PMID 25220031

Specific expression of OATPs in primary small cell lung cancer (SCLC) cells as novel biomarkers for diagnosis and therapy.

Brenner S1, Klameth L2, Riha J1, Schölm M3, Hamilton G4, Bajna E3, Ausch C5, Reiner A6, Jäger W1, Thalhammer T7, Buxhofer-Ausch V8.
Cancer letters.Cancer Lett.2015 Jan 28;356(2 Pt B):517-24. doi: 10.1016/j.canlet.2014.09.025. Epub 2014 Oct 6.
The expression of organic anion transporting polypeptides (OATPs) was elucidated in cell lines from small cell lung cancer (SCLC) and lung carcinoids and in paraffin-embedded samples from primary and metastatic SCLCs. We found a strong relationship between OATP expression and the origin of the cells
PMID 25301452

Interactions between MAOA and SYP polymorphisms were associated with symptoms of attention-deficit/hyperactivity disorder in Chinese Han subjects.

Gao Q1, Liu L, Li HM, Tang YL, Wu ZM, Chen Y, Wang YF, Qian QJ.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.Am J Med Genet B Neuropsychiatr Genet.2015 Jan;168(1):45-53. doi: 10.1002/ajmg.b.32273. Epub 2014 Dec 8.
As candidate genes of attention-deficit/hyperactivity disorder (ADHD), monoamine oxidase A (MAOA), and synaptophysin (SYP) are both on the X chromosome, and have been suggested to be associated with the predominantly inattentive subtype (ADHD-I). The present study is to investigate the potential gen
PMID 25487813

Japanese Journal

免疫組織学的にポリオーマウィルスが陽性であったMerkel細胞癌の2例

東儀那津子,高須博,勝岡憲生,鴻池奈津子,根本充,武田啓
Skin Cancer 28(1), 29-33, 2013
… 免疫染色で腫瘍細胞はNSE，Synaptophysin，CK20で陽性であった。 …
NAID 130003378162

A Case of Malignant Carotid Body Tumor

若月昭子,西角章,櫟原新平,李昊哲,河田了,栗栖義賢,辻求
耳鼻咽喉科臨床 106(3), 247-252, 2013
… Histopathologically, the tumor cells were positive for chromogranin A, synaptophysin and CD56. …
NAID 130003374032

膵神経内分泌腫瘍術後19年目の肝転移再発が疑われた1切除例

高田英志,吉田寛,真々田裕宏,谷合信彦,吉岡正人,川野陽一,清水哲也,上田純志,内藤善哉,内田英二
肝臓 54(5), 326-333, 2013
膵神経内分泌腫瘍（neuroendocrine tumor：NET）術後19年目の肝転移再発が疑われた1切除例を経験した．症例は58歳，男性．19年前に当院にて膵頭部腫瘍に対して膵頭十二指腸切除術施行．膵島細胞癌（2010年WHO分類ではNET G2）と診断された．再発なく経過し，以後，近医にてフォローアップされていた．1年前に腹部CT検査にて肝S6に多血性の径10 mm大の腫瘍を指摘され，増大傾 …
NAID 130003368684

Related Pictures

★リンクテーブル★

リンク元	「カルチノイド」「シナプトフィジン」

「カルチノイド」

Synaptophysin
Identifiers
Symbols	SYP; MRXSYP
External IDs	OMIM: 313475 MGI: 98467 HomoloGene: 2391 GeneCards: SYP Gene
Gene Ontology
Molecular function	• transporter activity; • calcium ion binding; • cholesterol binding; • syntaxin-1 binding; • protein complex binding; • SH2 domain binding; • identical protein binding;
Cellular component	• cell junction; • integral to synaptic vesicle membrane; • presynaptic membrane; • protein complex; • neuron projection terminus; • presynaptic active zone; • excitatory synapse;
Biological process	• endocytosis; • synaptic vesicle maturation; • regulation of long-term neuronal synaptic plasticity; • regulation of short-term neuronal synaptic plasticity; • synaptic vesicle membrane organization; • cellular response to organic substance; • regulation of opioid receptor signaling pathway;
	Sources: Amigo / QuickGO
RNA expression pattern
	More reference expression data
Orthologs
	This box: view; talk; edit;

　　[★]

英: carcinoid
同: カルチノイド腫瘍 carcinoid tumor; 好銀性細胞腫 argyrophil cell tumor
関: カルチノイド症候群、消化管カルチノイド

概念

気管支や消化管に発生し、原腸系臓器に広く分布する内分泌系細胞腫瘍の低異型度腫瘍。消化管に発生したものは特に消化管カルチノイドという(YN.A-75)

腫瘍。神経内胚葉系の腸クロム親和細胞に由来。形態的に癌に類似するが、悪性度は低い。発育は緩慢。転移はしうる。
chromogranin A, synaptophysin, neuron-specific enolaseを含む
生理活性物質を産生しうる　→　カルチノイド症候群

ヒスタミン、セロトニン、カテコールアミン、プロスタグランジン、カリクレイン、ACTH

疫学

欧米では小腸腫瘍の中で悪性腫瘍に次いで2番目に多いが、日本では非常にまれ。

分類

部位

消化管カルチノイド

副腎カルチノイド

発生部位

発生部位：消化管(虫垂、大腸、小腸、直腸、胃)および肺、気管支

直腸が最多 (YN.A-75)
肺：発生母地(気管支腺、細気管支上皮内に存在するKultchitzky細胞)。神経内分泌顆粒を有する。(NSU.344)

病理

粘膜下腫瘍と同様の所見を呈することが多い。　　ちなみにGISTは粘膜下腫瘍
つまり辺縁はなだらかである。

細胞の配列：索状、リボン状。時にロゼット様
核：小型、円形で中心に存在し、分裂像は少ない

予後

予後(5年生存率)：虫垂のカルチノイドを除いて90%。小腸原発のカルチノイドで肝臓に転移があっても50% (BPT.627)

消化管 (BPT.626)

疫学

The peak incidence of these neoplasms is in the sixth decade.(BPT.626)
直腸結腸癌の2%以下。小腸の悪性腫瘍の半分を占める
転移：虫垂と直腸のカルチノイドは転移しにくい。90%の胃、空腸、結腸のカルチノイドは

直腸

疫学(NSU.590)

消化器系のカルチノイドのうち最多(36%)。
40-50歳代に多い。
男：女=1.4:1

国試

「シナプトフィジン」

　　[★]

英: synaptophysin
同: 主要シナプス小胞蛋白p38 major synaptic vesicle protein p38

酸性の膜糖タンパク質。
分子量は38kDa
機能は詳細明らかではないが、シナプス小胞のエンドサイトーシスに関与しているらしいことがわかってきた。
発現細胞/組織は神経内分泌細胞、ニューロン(シナプス小胞を介した神経伝達を行うもの)
臓器局在としては、副腎髄質、下垂体、膵などの神経・神経内分泌細胞
細胞内局在としては細胞膜、特に神経細胞のシナプス小胞膜に存在する
免疫病理の分野では肺/胃腸膵管系の神経内分泌腫瘍(神経芽細胞腫、ガングリオブラストーマ、褐色細胞腫、パラガングリオーマ)と上皮系神経内分泌腫瘍との鑑別に有用とされている。
免疫組織化学では細胞膜で陽性となる。

[entrez-1] "Entrez Gene: SYP synaptophysin".

[pmid3120152-2] 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. PMC 306499. PMID 3120152.

[pmid9023727-3] 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.

[pmid8643476-4] 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. doi:10.1073/pnas.93.10.4760. PMC 39352. PMID 8643476.

[pmid19393300-5] 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. doi:10.1016/j.neuroscience.2009.04.046. PMID 19393300.

[pmid19377476-6] Tarpey PS, Smith R, Pleasance E, et al. (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.

[Leong-7] 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 1-84110-100-1.

[pmid12498786-8] 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.

[pmid11786535-9] 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.

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synaptophysin