Β-肌动蛋白

Β-肌动蛋白
已知的结构
PDB	直系同源搜索: PDBe RCSB
PDBID列表
	3BYH、3D2U、3J82、3LUE
识别号
别名	ACTB；, BRWS1, PS1TP5BP1, Beta-actin, actin, beta, actin beta
外部ID	OMIM：102630 MGI：87906 HomoloGene：110648 GeneCards：ACTB
相关疾病
	developmental malformations-deafness-dystonia syndrome、Baraitser-Winter syndrome
基因位置（人类）
染色体	7号染色体
终止	5,563,902 bp
基因位置（小鼠）
染色体	小鼠11号染色体
终止	120,239,368 bp
RNA表达模式
	; ;
	查阅更多表达数据
基因本体
分子功能	• RNA polymerase II cis-regulatory region sequence-specific DNA binding; • 核苷酸结合; • nitric-oxide synthase binding; • Tat protein binding; • structural constituent of cytoskeleton; • 血浆蛋白结合; • kinesin binding; • 相同蛋白质结合; • nucleosomal DNA binding; • ATP结合;
细胞组分	• 细胞质; • blood microparticle; • 膜; • 粘着斑; • NuA4复合体; • 细胞膜; • 核质; • cytoplasmic ribonucleoprotein granule; • 外排体; • 细胞骨架; • dense body; • cortical cytoskeleton; • 细胞质基质; • myelin sheath; • 细胞外空间;
生物学过程	• epigenetic maintenance of chromatin in transcription-competent conformation; • substantia nigra development; • Fc-gamma receptor signaling pathway involved in phagocytosis; • ephrin receptor signaling pathway; • retina homeostasis; • vascular endothelial growth factor receptor signaling pathway; • platelet aggregation; • cell junction assembly; • 细胞骨架组织; • protein deubiquitination; • membrane organization;
	Sources:Amigo / QuickGO
直系同源
	60
	11465
	ENSG00000075624
	ENSMUSG00000062825
	P60709
	P63260
	NM_001101
	NM_009609; NM_001313923
	NP_001092
	NP_001300852; NP_033739
	维基数据
查看/编辑人类	查看/编辑小鼠

β-肌动蛋白，人体内由ACTB基因编码，是肌动蛋白的六种蛋白异构体之一。β-肌动蛋白是一种进化上高度保守的蛋白，与细胞的结构维持、移动，以及与所处环境之间的整合高度相关^[6]^[7]。

在肌动蛋白的六种异构体中，β-肌动蛋白是两种存在于肌肉组织之外的肌动蛋白之一（另一种是由ACTG1基因编码的γ-肌动蛋白（英语：ACTG1））^[8]。

功能

β-肌动蛋白是构成微丝的蛋白之一，在细胞中有单体与多聚体（即聚合形成微丝的状态）两种存在状态^[9]。β-肌动蛋白与细胞的移动、结构维持等过程密切相关，过表达β-肌动蛋白会导致细胞形态出现异常^[10]，纯合敲除β-肌动蛋白的编码基因Actb则会导致小鼠胚胎致死。此外，β-肌动蛋白也是细胞基因调控网络的中间因子之一^[11]。

与临床医学的关系

有证据表明，β-肌动蛋白的编码基因ACTB突变与弥漫大B细胞淋巴瘤的发生有关^[12]。此外，也存有关于β-肌动蛋白的编码基因ACTB突变导致严重发育异常、耳聋和青少年发作性肌张力障碍等病征的案例报告^[13]。

应用

作为一种看家基因，因β-肌动蛋白在不同细胞之间的表达水平相对稳定，β-肌动蛋白常常在蛋白免疫印迹（Western Blotting）实验中用作内参蛋白（英语：Western blot normalization），用于半定性表示不同样品之间总蛋白量的差异^[14]。因为类似的原因，编码β-肌动蛋白的ACTB基因也常常在qPCR实验中被选为内参基因^[15]^[16]。

参见

γ-肌动蛋白（英语：ACTG1）
部分常见的参考基因/参考蛋白：
- 甘油醛-3-磷酸脱氢酶（英语：Glyceraldehyde 3-phosphate dehydrogenase）（GAPDH）
- 次黄嘌呤-鸟嘌呤磷酸核苷转移酶（HPRT）
- RPL7（英语：60S ribosomal protein L7）

参考文献

^ 與Β-肌动蛋白相關的疾病；在維基數據上查看/編輯參考.
^ ^2.0 ^2.1 ^2.2 GRCh38: Ensembl release 89: ENSG00000075624 - Ensembl, May 2017
^ ^3.0 ^3.1 ^3.2 GRCm38: Ensembl release 89: ENSMUSG00000062825 - Ensembl, May 2017
^ Human PubMed Reference:. National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Mouse PubMed Reference:. National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Gunning PW, Ghoshdastider U, Whitaker S, Popp D, Robinson RC. The evolution of compositionally and functionally distinct actin filaments. Journal of Cell Science. Jun 2015, 128 (11): 2009–2019. PMID 25788699. doi:10.1242/jcs.165563.
^ Hanukoglu I, Tanese N, Fuchs E. Complementary DNA sequence of a human cytoplasmic actin. Interspecies divergence of 3' non-coding regions. Journal of Molecular Biology. Feb 1983, 163 (4): 673–8. PMID 6842590. doi:10.1016/0022-2836(83)90117-1.
^ Rønnov-Jessen, L; Petersen, O W. A function for filamentous alpha-smooth muscle actin: retardation of motility in fibroblasts.. Journal of Cell Biology. 1996, 134 (1): 67–80. ISSN 0021-9525. doi:10.1083/jcb.134.1.67.
^ Drazic, Adrian; Aksnes, Henriette; Marie, Michaël; Boczkowska, Malgorzata; Varland, Sylvia; Timmerman, Evy; Foyn, Håvard; Glomnes, Nina; Rebowski, Grzegorz; Impens, Francis; Gevaert, Kris; Dominguez, Roberto; Arnesen, Thomas. NAA80 is actin’s N-terminal acetyltransferase and regulates cytoskeleton assembly and cell motility. Proceedings of the National Academy of Sciences. 2018, 115 (17): 4399–4404. ISSN 0027-8424. doi:10.1073/pnas.1718336115.
^ M Peckham; G Miller; et al. Specific changes to the mechanism of cell locomotion induced by overexpression of beta-actin. Journal of Cell Science. 2001, 114: 1367-77 [2021-05-02]. PMID 11257002. （原始内容存档于2021-05-25）.
^ Bunnell, Tina M.; Burbach, Brandon J.; Shimizu, Yoji; Ervasti, James M.; Forscher, Paul. β-Actin specifically controls cell growth, migration, and the G-actin pool. Molecular Biology of the Cell. 2011, 22 (21): 4047–4058. ISSN 1059-1524. doi:10.1091/mbc.e11-06-0582.
^ Lohr JG, Stojanov P, Lawrence MS, Auclair D, Chapuy B, Sougnez C, Cruz-Gordillo P, Knoechel B, Asmann YW, Slager SL, Novak AJ, Dogan A, Ansell SM, Link BK, Zou L, Gould J, Saksena G, Stransky N, Rangel-Escareño C, Fernandez-Lopez JC, Hidalgo-Miranda A, Melendez-Zajgla J, Hernández-Lemus E, Schwarz-Cruz y Celis A, Imaz-Rosshandler I, Ojesina AI, Jung J, Pedamallu CS, Lander ES, Habermann TM, Cerhan JR, Shipp MA, Getz G, Golub TR. Discovery and prioritization of somatic mutations in diffuse large B-cell lymphoma (DLBCL) by whole-exome sequencing. Proceedings of the National Academy of Sciences of the United States of America. Mar 2012, 109 (10): 3879–84. Bibcode:2012PNAS..109.3879L. PMC 3309757  . PMID 22343534. doi:10.1073/pnas.1121343109.
^ Aleksandra Simiczyjew; Katarzyna Pietraszek-Gremplewicz; Antonina Joanna Mazur; Dorota Nowak. Are non-muscle actin isoforms functionally equivalent? (PDF). Histol Histopathol. 2017, 32: 1125-1139 [2021-05-02]. doi:10.14670/HH-11-896. （原始内容存档 (PDF)于2017-11-16）.
^ Panina, Yulia; Germond, Arno; Masui, Shinji; Watanabe, Tomonobu M. Validation of Common Housekeeping Genes as Reference for qPCR Gene Expression Analysis During iPS Reprogramming Process. Scientific Reports. 2018, 8 (1). ISSN 2045-2322. doi:10.1038/s41598-018-26707-8.
^ Roy, Justin G.; McElhaney, Janet E.; Verschoor, Chris P. Reliable reference genes for the quantification of mRNA in human T-cells and PBMCs stimulated with live influenza virus. BMC Immunology. 2020, 21 (1). ISSN 1471-2172. doi:10.1186/s12865-020-0334-8.
^ Kozera, Bartłomiej; Rapacz, Marcin. Reference genes in real-time PCR. Journal of Applied Genetics. 2013, 54 (4): 391–406. ISSN 1234-1983. doi:10.1007/s13353-013-0173-x.

[1] 與Β-肌动蛋白相關的疾病；在維基數據上查看/編輯參考.

[refGRCh38Ensembl-2] 2.0 ^2.1 ^2.2 GRCh38: Ensembl release 89: ENSG00000075624 - Ensembl, May 2017

[refGRCm38Ensembl-3] 3.0 ^3.1 ^3.2 GRCm38: Ensembl release 89: ENSMUSG00000062825 - Ensembl, May 2017

[4] Human PubMed Reference:. National Center for Biotechnology Information, U.S. National Library of Medicine.

[5] Mouse PubMed Reference:. National Center for Biotechnology Information, U.S. National Library of Medicine.

[gunning-6] Gunning PW, Ghoshdastider U, Whitaker S, Popp D, Robinson RC. The evolution of compositionally and functionally distinct actin filaments. Journal of Cell Science. Jun 2015, 128 (11): 2009–2019. PMID 25788699. doi:10.1242/jcs.165563.

[pmid6842590-7] Hanukoglu I, Tanese N, Fuchs E. Complementary DNA sequence of a human cytoplasmic actin. Interspecies divergence of 3' non-coding regions. Journal of Molecular Biology. Feb 1983, 163 (4): 673–8. PMID 6842590. doi:10.1016/0022-2836(83)90117-1.

[Rønnov-JessenPetersen1996-8] Rønnov-Jessen, L; Petersen, O W. A function for filamentous alpha-smooth muscle actin: retardation of motility in fibroblasts.. Journal of Cell Biology. 1996, 134 (1): 67–80. ISSN 0021-9525. doi:10.1083/jcb.134.1.67.

[DrazicAksnes2018-9] Drazic, Adrian; Aksnes, Henriette; Marie, Michaël; Boczkowska, Malgorzata; Varland, Sylvia; Timmerman, Evy; Foyn, Håvard; Glomnes, Nina; Rebowski, Grzegorz; Impens, Francis; Gevaert, Kris; Dominguez, Roberto; Arnesen, Thomas. NAA80 is actin’s N-terminal acetyltransferase and regulates cytoskeleton assembly and cell motility. Proceedings of the National Academy of Sciences. 2018, 115 (17): 4399–4404. ISSN 0027-8424. doi:10.1073/pnas.1718336115.

[10] M Peckham; G Miller; et al. Specific changes to the mechanism of cell locomotion induced by overexpression of beta-actin. Journal of Cell Science. 2001, 114: 1367-77 [2021-05-02]. PMID 11257002. （原始内容存档于2021-05-25）.

[BunnellBurbach2011-11] Bunnell, Tina M.; Burbach, Brandon J.; Shimizu, Yoji; Ervasti, James M.; Forscher, Paul. β-Actin specifically controls cell growth, migration, and the G-actin pool. Molecular Biology of the Cell. 2011, 22 (21): 4047–4058. ISSN 1059-1524. doi:10.1091/mbc.e11-06-0582.

[pmid22343534-12] Lohr JG, Stojanov P, Lawrence MS, Auclair D, Chapuy B, Sougnez C, Cruz-Gordillo P, Knoechel B, Asmann YW, Slager SL, Novak AJ, Dogan A, Ansell SM, Link BK, Zou L, Gould J, Saksena G, Stransky N, Rangel-Escareño C, Fernandez-Lopez JC, Hidalgo-Miranda A, Melendez-Zajgla J, Hernández-Lemus E, Schwarz-Cruz y Celis A, Imaz-Rosshandler I, Ojesina AI, Jung J, Pedamallu CS, Lander ES, Habermann TM, Cerhan JR, Shipp MA, Getz G, Golub TR. Discovery and prioritization of somatic mutations in diffuse large B-cell lymphoma (DLBCL) by whole-exome sequencing. Proceedings of the National Academy of Sciences of the United States of America. Mar 2012, 109 (10): 3879–84. Bibcode:2012PNAS..109.3879L. PMC 3309757  . PMID 22343534. doi:10.1073/pnas.1121343109.

[13] Aleksandra Simiczyjew; Katarzyna Pietraszek-Gremplewicz; Antonina Joanna Mazur; Dorota Nowak. Are non-muscle actin isoforms functionally equivalent? (PDF). Histol Histopathol. 2017, 32: 1125-1139 [2021-05-02]. doi:10.14670/HH-11-896. （原始内容存档 (PDF)于2017-11-16）.

[PaninaGermond2018-14] Panina, Yulia; Germond, Arno; Masui, Shinji; Watanabe, Tomonobu M. Validation of Common Housekeeping Genes as Reference for qPCR Gene Expression Analysis During iPS Reprogramming Process. Scientific Reports. 2018, 8 (1). ISSN 2045-2322. doi:10.1038/s41598-018-26707-8.

[RoyMcElhaney2020-15] Roy, Justin G.; McElhaney, Janet E.; Verschoor, Chris P. Reliable reference genes for the quantification of mRNA in human T-cells and PBMCs stimulated with live influenza virus. BMC Immunology. 2020, 21 (1). ISSN 1471-2172. doi:10.1186/s12865-020-0334-8.

[KozeraRapacz2013-16] Kozera, Bartłomiej; Rapacz, Marcin. Reference genes in real-time PCR. Journal of Applied Genetics. 2013, 54 (4): 391–406. ISSN 1234-1983. doi:10.1007/s13353-013-0173-x.

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