穿孔素

穿孔素1; Perforin 1
	一個包含Plu-MACPF蛋白的MACPF域結構PDB 2QP2 [1]MACPF域用青色/粉紅色表示；而?棱鏡域則是用橘色表示；兩個鈣原子則是用灰色表示
标识
代号	PRF1; FLH2; HPLH2; P1; PFN1; PFP
扩展标识	遗传学：170280 鼠基因：97551 同源基因：3698 ChEMBL: 5480 GeneCards: PRF1 Gene
基因本体论描述
分子功能	· calcium ion binding; · protein binding; · wide pore channel activity;
细胞成分	· extracellular region; · plasma membrane; · membrane; · integral component of membrane; · cytoplasmic membrane-bounded vesicle; · endosome lumen; · cytolytic granule;
生物过程	· defense response to tumor cell; · immune response to tumor cell; · apoptotic process; · cellular defense response; · cytolysis; · protein homooligomerization; · defense response to virus; · transmembrane transport;
	Sources: Amigo / QuickGO
RNA表达模式
	更多表达数据
直系同源体

穿孔素（英語：）是人體內一類由PRF1基因编码的蛋白質[2][3][4]。

功能

穿孔素是一種由细胞毒性T细胞或自然殺傷細胞分泌的細胞溶解蛋白質。它們會插入靶細胞的細胞膜中，並形成孔隙。穿孔素的MACPF域能夠促使細胞溶解[5]。該域與革蘭氏陽性菌的膽固醇依賴性溶細胞素有一定的同源型[1]。

穿孔素在結構上和功能上與補體成分9（C9）具有一些共同點。比如說，穿孔素可以像補體成分9那樣在細胞膜上形成能夠非特異性地裂解多種靶細胞的孔洞。穿孔素是促細胞溶解顆粒中的一種主要促細胞裂解蛋白，在由T細胞和天然殺傷細胞介導的細胞溶解中起關鍵作用[4]。它通過在細胞膜上產生孔洞，從而讓鈣離子大量流入細胞，使得靶細胞啓動細胞膜的修復機制。上述的修復機制可讓穿孔素和顆粒酶進入早期內涵體[6]。

臨床意義

有缺陷的PRF1等位基因純合會導致2型噬血細胞综合癥，一種罕見的致死性幼年期常染色體隱性遺傳病[4]。

相互作用

數據表明，穿孔素可與鈣網蛋白發生蛋白質交互作用[7]。

參見

顆粒酶
防禦素

參考

Rosado CJ, Buckle AM, Law RH, Butcher RE, Kan WT, Bird CH, Ung K, Browne KA, Baran K, Bashtannyk-Puhalovich TA, Faux NG, Wong W, Porter CJ, Pike RN, Ellisdon AM, Pearce MC, Bottomley SP, Emsley J, Smith AI, Rossjohn J, Hartland EL, Voskoboinik I, Trapani JA, Bird PI, Dunstone MA, Whisstock JC. . Science. 2007, 317 (5844): 1548–51. PMID 17717151. doi:10.1126/science.1144706.
Fink TM, Zimmer M, Weitz S, Tschopp J, Jenne DE, Lichter P. . Genomics. Sep 1992, 13 (4): 1300–2. PMID 1505959. doi:10.1016/0888-7543(92)90050-3.
Shinkai Y, Yoshida MC, Maeda K, Kobata T, Maruyama K, Yodoi J, Yagita H, Okumura K. . Immunogenetics. Jan 1990, 30 (6): 452–7. PMID 2592021. doi:10.1007/BF02421177.
.
Tschopp J, Masson D, Stanley KK. . Nature. 1986, 322 (6082): 831–4. PMID 2427956. doi:10.1038/322831a0.
Thiery J, Keefe D, Boulant S, Boucrot E, Walch M, Martinvalet D, Goping IS, Bleackley RC, Kirchhausen T, Lieberman J. . Nat. Immunol. 2011, 12 (8): 770–7. PMC 3140544 . PMID 21685908. doi:10.1038/ni.2050.
Andrin C, Pinkoski MJ, Burns K; et al. . Biochemistry. July 1998, 37 (29): 10386–94. PMID 9671507. doi:10.1021/bi980595z.

拓展閱讀

Trapani JA. . Australian and New Zealand journal of medicine. 1996, 25 (6): 793–9. PMID 8770355. doi:10.1111/j.1445-5994.1995.tb02883.x.
Peitsch MC, Amiguet P, Guy R; et al. . Mol. Immunol. 1990, 27 (7): 589–602. PMID 2395434. doi:10.1016/0161-5890(90)90001-G.
Young JD, Hengartner H, Podack ER, Cohn ZA. . Cell. 1986, 44 (6): 849–59. PMID 2420467. doi:10.1016/0092-8674(86)90007-3.
Young JD, Cohn ZA, Podack ER. . Science. 1986, 233 (4760): 184–90. PMID 2425429. doi:10.1126/science.2425429.
Lichtenheld MG, Podack ER. . J. Immunol. 1990, 143 (12): 4267–74. PMID 2480391.
Shinkai Y, Takio K, Okumura K. . Nature. 1988, 334 (6182): 525–7. PMID 3261391. doi:10.1038/334525a0.
Lichtenheld MG, Olsen KJ, Lu P; et al. . Nature. 1988, 335 (6189): 448–51. PMID 3419519. doi:10.1038/335448a0.
Goebel WS, Schloemer RH, Brahmi Z. . Mol. Immunol. 1996, 33 (4–5): 341–9. PMID 8676885. doi:10.1016/0161-5890(95)00155-7.
Nöske K, Bilzer T, Planz O, Stitz L. . J. Virol. 1998, 72 (5): 4387–95. PMC 109669 . PMID 9557729.
Andrin C, Pinkoski MJ, Burns K; et al. . Biochemistry. 1998, 37 (29): 10386–94. PMID 9671507. doi:10.1021/bi980595z.
Yu CR, Ortaldo JR, Curiel RE; et al. . J. Immunol. 1999, 162 (5): 2785–90. PMID 10072525.
Stepp SE, Dufourcq-Lagelouse R, Le Deist F; et al. . Science. 1999, 286 (5446): 1957–9. PMID 10583959. doi:10.1126/science.286.5446.1957.
Takahashi T, Nieda M, Koezuka Y; et al. . J. Immunol. 2000, 164 (9): 4458–64. PMID 10779745. doi:10.4049/jimmunol.164.9.4458.
Badovinac VP, Tvinnereim AR, Harty JT. . Science. 2000, 290 (5495): 1354–8. PMID 11082062. doi:10.1126/science.290.5495.1354.
Göransdotter Ericson K, Fadeel B, Nilsson-Ardnor S; et al. . Am. J. Hum. Genet. 2001, 68 (3): 590–7. PMC 1274472 . PMID 11179007. doi:10.1086/318796.
Clementi R, zur Stadt U, Savoldi G; et al. . J. Med. Genet. 2002, 38 (9): 643–6. PMC 1734943 . PMID 11565555. doi:10.1136/jmg.38.9.643.
Ambach A, Bonnekoh B, Gollnick H. . Skin Pharmacol. Appl. Skin Physiol. 2001, 14 (5): 249–60. PMID 11586066. doi:10.1159/000056355.

外部連結

醫學主題詞表（MeSH）：perforin

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[macpfstructure-1] Rosado CJ, Buckle AM, Law RH, Butcher RE, Kan WT, Bird CH, Ung K, Browne KA, Baran K, Bashtannyk-Puhalovich TA, Faux NG, Wong W, Porter CJ, Pike RN, Ellisdon AM, Pearce MC, Bottomley SP, Emsley J, Smith AI, Rossjohn J, Hartland EL, Voskoboinik I, Trapani JA, Bird PI, Dunstone MA, Whisstock JC. . Science. 2007, 317 (5844): 1548–51. PMID 17717151. doi:10.1126/science.1144706.

[pmid1505959-2] Fink TM, Zimmer M, Weitz S, Tschopp J, Jenne DE, Lichter P. . Genomics. Sep 1992, 13 (4): 1300–2. PMID 1505959. doi:10.1016/0888-7543(92)90050-3.

[pmid2592021-3] Shinkai Y, Yoshida MC, Maeda K, Kobata T, Maruyama K, Yodoi J, Yagita H, Okumura K. . Immunogenetics. Jan 1990, 30 (6): 452–7. PMID 2592021. doi:10.1007/BF02421177.

[entrez-4] .

[5] Tschopp J, Masson D, Stanley KK. . Nature. 1986, 322 (6082): 831–4. PMID 2427956. doi:10.1038/322831a0.

[pmid21685908-6] Thiery J, Keefe D, Boulant S, Boucrot E, Walch M, Martinvalet D, Goping IS, Bleackley RC, Kirchhausen T, Lieberman J. . Nat. Immunol. 2011, 12 (8): 770–7. PMC 3140544 . PMID 21685908. doi:10.1038/ni.2050.

[pmid9671507-7] Andrin C, Pinkoski MJ, Burns K; et al. . Biochemistry. July 1998, 37 (29): 10386–94. PMID 9671507. doi:10.1021/bi980595z.