穿孔素

穿孔素1; Perforin 1
	一个包含Plu-MACPF蛋白的MACPF域结构PDB 2QP2 [1]MACPF域用青色/粉红色表示；而?棱镜域则是用橘色表示；两个钙原子则是用灰色表示
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（英语：）是人体内一类由PRF1基因编码的蛋白质[2][3][4]。

功能

穿孔素是一种由细胞毒性T细胞或自然杀伤细胞分泌的细胞溶解蛋白质。它们会插入靶细胞的细胞膜中，并形成孔隙。穿孔素的MACPF域能够促使细胞溶解[5]。该域与革兰氏阳性菌的胆固醇依赖性溶细胞素有一定的同源型[1]。

穿孔素在结构上和功能上与补体成分9（C9）具有一些共同点。比如说，穿孔素可以像补体成分9那样在细胞膜上形成能够非特异性地裂解多种靶细胞的孔洞。穿孔素是促细胞溶解颗粒中的一种主要促细胞裂解蛋白，在由T细胞和天然杀伤细胞介导的细胞溶解中起关键作用[4]。它通过在细胞膜上产生孔洞，从而让钙离子大量流入细胞，使得靶细胞启动细胞膜的修复机制。上述的修复机制可让穿孔素和颗粒酶进入早期内涵体[6]。

临床意义

有缺陷的PRF1等位基因纯合会导致2型噬血细胞综合症，一种罕见的致死性幼年期常染色体隐性遗传病[4]。

相互作用

数据表明，穿孔素可与钙网蛋白发生蛋白质交互作用[7]。

参见

颗粒酶
防御素

参考

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.

拓展阅读

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.

外部链接

医学主题词表（MeSH）：perforin

This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.

[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.