PTEN (基因)

磷酸酯酶與張力蛋白同源物（英語：Phosphatase and tensin homolog，簡稱為PTEN）是一種在人體中由PTEN基因編碼的蛋白質^[2]。該基因的突變是多種癌症進展過程的環節之一。

磷酸酯酶與張力蛋白同源物
人PTEN的晶體結構圖。N-端磷酸酯酶結構域以藍色表示而C-端C2結構域以紅色表示[1]。
有效結構 PDB 直系同源檢索：PDBe, RCSB PDB查詢代碼列表 1D5R, 2KYL
標識
代號	PTEN; 10q23del; BZS; CWS1; DEC; GLM2; MHAM; MMAC1; PTEN1; TEP1
擴展標識	遺傳學：601728 鼠基因：109583 同源基因：265 GeneCards: PTEN Gene
EC編號	3.1.3.16, 3.1.3.48, 3.1.3.67
基因本體論描述 分子功能 · magnesium ion binding · phosphatidylinositol-3-phosphatase activity · phosphoprotein phosphatase activity · protein serine/threonine phosphatase activity · protein tyrosine phosphatase activity · protein binding · protein tyrosine/serine/threonine phosphatase activity · lipid binding · anaphase-promoting complex binding · phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity · enzyme binding · protein kinase binding · PDZ domain binding · inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity · phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity 細胞成分 · nucleus · cytoplasm · cytosol · plasma membrane · internal side of plasma membrane · PML body · myelin sheath adaxonal region · cell projection · neuron projection · Schmidt-Lanterman incisure 生物過程 · regulation of cyclin-dependent protein serine/threonine kinase activity · angiogenesis · negative regulation of protein phosphorylation · regulation of B cell apoptotic process · protein dephosphorylation · phospholipid metabolic process · phosphatidylinositol biosynthetic process · apoptotic process · induction of apoptosis · activation of mitotic anaphase-promoting complex activity · epidermal growth factor receptor signaling pathway · neuron-neuron synaptic transmission · synapse assembly · central nervous system development · heart development · learning or memory · locomotory behavior · cell proliferation · positive regulation of cell proliferation · negative regulation of cell proliferation · fibroblast growth factor receptor signaling pathway · regulation of neuron projection development · negative regulation of phosphatidylinositol 3-kinase cascade · cell migration · dentate gyrus development · central nervous system neuron axonogenesis · negative regulation of cell migration · negative regulation of myelination · regulation of protein stability · negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S · central nervous system myelin maintenance · regulation of cellular component size · regulation of myeloid cell apoptotic process · multicellular organismal response to stress · social behavior · peptidyl-tyrosine dephosphorylation · maternal behavior · negative regulation of apoptotic process · protein kinase B signaling cascade · endothelial cell migration · inositol phosphate metabolic process · small molecule metabolic process · innate immune response · locomotor rhythm · negative regulation of cell size · negative regulation of organ growth · inositol phosphate dephosphorylation · phosphatidylinositol dephosphorylation · neurotrophin TRK receptor signaling pathway · phosphatidylinositol-mediated signaling · cardiac muscle tissue development · forebrain morphogenesis · brain morphogenesis · negative regulation of epithelial cell proliferation · negative regulation of axonogenesis · protein stabilization · T cell receptor signaling pathway · positive regulation of sequence-specific DNA binding transcription factor activity · negative regulation of focal adhesion assembly · negative regulation of protein kinase B signaling cascade · rhythmic synaptic transmission · canonical Wnt receptor signaling pathway · synapse maturation · prepulse inhibition · male mating behavior · long-term synaptic potentiation · prostate gland growth · dendritic spine morphogenesis · negative regulation of dendritic spine morphogenesis · negative regulation of ribosome biogenesis · negative regulation of cell aging · negative regulation of excitatory postsynaptic membrane potential · presynaptic membrane assembly · postsynaptic density assembly · positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process · negative regulation of G1/S transition of mitotic cell cycle · positive regulation of excitatory postsynaptic membrane potential · negative regulation of synaptic vesicle clustering Sources: Amigo / QuickGO
直系同源體
物種	人類	小鼠
Entrez	5728	19211
Ensembl	ENSG00000171862	ENSMUSG00000013663
UniProt	P60484	O08586
mRNA序列	NM_000314	NM_008960
蛋白序列	NP_000305	NP_032986
基因位置	Chr 10: 89.62 – 89.73 Mb	Chr 19: 32.76 – 32.83 Mb
PubMed查詢	[1]	[2]
閱 論 編

PTEN通過其磷酸酯酶蛋白產物而行使一種抑癌基因的作用。這一磷酸酯酶參與了細胞周期的調節，阻止細胞過快地生長與分裂^[3]。其為癌微RNAMIRN21的靶之一。

該基因被鑑定為一種腫瘤抑制物，在多種癌症中往往處於變異狀態。該基因編碼的蛋白質是一種磷脂酰肌醇-3,4,5-三磷酸3-磷酸酯酶。該蛋白同時含有一張力蛋白樣結構域及一催化結構域，這與雙特異性蛋白酪氨酸磷酸酶很相似。但與大部分蛋白質酪氨酸磷酸酶不同的是，該蛋白偏好脫去磷酸肌醇底物上的磷酸。該蛋白負性調控胞內磷脂酰肌醇-3,4,5-三磷酸的水平，並通過負性調控Akt/PKB信號通道發揮抑癌基因的作用^[4]。

參考文獻

1. PDB 1d5r；Lee JO, Yang H, Georgescu MM, Di Cristofano A, Maehama T, Shi Y, Dixon JE, Pandolfi P, Pavletich NP. Crystal structure of the PTEN tumor suppressor: implications for its phosphoinositide phosphatase activity and membrane association. Cell. October 1999, 99 (3): 323–34. PMID 10555148. doi:10.1016/S0092-8674(00)81663-3.
2. Steck PA, Pershouse MA, Jasser SA, Yung WK, Lin H, Ligon AH, Langford LA, Baumgard ML, Hattier T, Davis T, Frye C, Hu R, Swedlund B, Teng DH, Tavtigian SV. Identification of a candidate tumour suppressor gene, MMAC1, at chromosome 10q23.3 that is mutated in multiple advanced cancers. Nat. Genet. April 1997, 15 (4): 356–62. PMID 9090379. doi:10.1038/ng0497-356.
3. Chu EC, Tarnawski AS. PTEN regulatory functions in tumor suppression and cell biology. Med. Sci. Monit. October 2004, 10 (10): RA235–41 [2013-05-25]. PMID 15448614. （原始內容存檔於2012-02-14）.
4. Entrez Gene: PTEN phosphatase and tensin homolog (mutated in multiple advanced cancers 1). （原始內容存檔於2010-03-07）.

深入閱讀

• Li J, Yen C, Liaw D, Podsypanina K, Bose S, Wang SI, Puc J, Miliaresis C, Rodgers L, McCombie R, Bigner SH, Giovanella BC, Ittmann M, Tycko B, Hibshoosh H, Wigler MH, Parsons R. PTEN, a putative protein tyrosine phosphatase gene mutated in human brain, breast, and prostate cancer. Science. 1997, 275 (5308): 1943–1947. PMID 9072974. doi:10.1126/science.275.5308.1943.
• Simpson L, Parsons R. PTEN: life as a tumor suppressor. Exp Cell Res. 2001, 264 (1): 29–41. PMID 11237521. doi:10.1006/excr.2000.5130.
• Chu EC, Tarnawski AS. PTEN regulatory functions in tumor suppression and cell biology. Med Sci Monit. 2004, 10 (10): RA235–41. PMID 15448614.
• Eng C. PTEN: one gene, many syndromes. Hum Mutat. 2003, 22 (3): 183–98. PMID 12938083. doi:10.1002/humu.10257.
• Hamada K, Sasaki T, Koni PA, Natsui M, Kishimoto H, Sasaki J, Yajima N, Horie Y, Hasegawa G, Naito M, Miyazaki J, Suda T, Itoh H, Nakao K, Mak TW, Nakano T, Suzuki A. The PTEN/PI3K pathway governs normal vascular development and tumor angiogenesis. Genes Dev. 2005, 19 (17): 2054–65. PMC 1199575 . PMID 16107612. doi:10.1101/gad.1308805.
• Leslie NR, Downes CP. PTEN function: how normal cells control it and tumour cells lose it. Biochem J. 2004, 382 (Pt 1): 1–11. PMC 1133909 . PMID 15193142. doi:10.1042/BJ20040825.
• Pilarski R, Eng C. Will the real Cowden syndrome please stand up (again)? Expanding mutational and clinical spectra of the PTEN hamartoma tumour syndrome. J Med Genet. 2004, 41 (5): 323–6. PMC 1735782 . PMID 15121767. doi:10.1136/jmg.2004.018036.
• Sansal I, Sellers WR. The biology and clinical relevance of the PTEN tumor suppressor pathway. J Clin Oncol. 2004, 22 (14): 2954–63. PMID 15254063. doi:10.1200/JCO.2004.02.141.
• Waite KA, Eng C. Protean PTEN: Form and Function. Am J Hum Genet. 2002, 70 (4): 829–44. PMC 379112 . PMID 11875759. doi:10.1086/340026.
• Zhou XP, Waite KA, Pilarski R, Hampel H, Fernandez MJ, Bos C, Dasouki M, Feldman GL, Greenberg LA, Ivanovich J, Matloff E, Patterson A, Pierpont ME, Russo D, Nassif NT, Eng C. Germline PTEN Promoter Mutations and Deletions in Cowden/Bannayan-Riley-Ruvalcaba Syndrome Result in Aberrant PTEN Protein and Dysregulation of the Phosphoinositol-3-Kinase/Akt Pathway. Am J Hum Genet. 2003, 73 (2): 404–11. PMC 1180378 . PMID 12844284. doi:10.1086/377109.
• Ji S-P, Zhang Y, Cleemput JV, Jiang W, Liao M, Li L, Wan Q, Backstrom JR, Zhang X. Disruption of PTEN coupling with 5-HT2C receptors suppresses behavioral responses induced by drugs of abuse. Nature Medicine. 2006, 12 (3): 324–9. PMID 16474401. doi:10.1038/nm1349.

外部連結

• GeneReviews/NCBI/NIH/UW entry on PTEN Hamartoma Tumor Syndrome (PHTS)（頁面存檔備份，存於互聯網檔案館）
• 醫學主題詞表（MeSH）：PTEN+Protein
• Template:UMichOPM
• PTEN Gene - phosphatase and tensin homolog. GeneCards. The Weizmann Institute of Science. [2009-03-12]. （原始內容存檔於2007-10-08）.
• Gene overview of all published AD-association studies for PTEN. Alzforum: AlzGene. Alzheimer Research Forum. [2009-03-12]. （原始內容存檔於2009-02-10）.
• Research shows gene defect's role in autism-like behavior

PTEN (基因)引用了美國國家醫學圖書館提供的資料，這些資料屬於公共領域。

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