Β-肌动蛋白

位於7號人類染色體的基因

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]

Β-肌动蛋白
已知的结构
PDB直系同源搜索: PDBe RCSB
识别号
别名ACTB;, BRWS1, PS1TP5BP1, Beta-actin, actin, beta, actin beta
外部IDOMIM102630 MGI87906 HomoloGene110648 GeneCardsACTB
相关疾病
developmental malformations-deafness-dystonia syndrome、​Baraitser-Winter syndrome[1]
基因位置(人类
7号染色体
染色体7号染色体[2]
7号染色体
Β-肌动蛋白的基因位置
Β-肌动蛋白的基因位置
基因座7p22.1起始5,526,409 bp[2]
终止5,563,902 bp[2]
RNA表达模式


查阅更多表达数据
直系同源
物种人类小鼠
Entrez
Ensembl
UniProt
mRNA​序列

NM_001101

NM_009609
​NM_001313923

蛋白序列

NP_001092

NP_001300852
​NP_033739

基因位置​(UCSC)Chr 7: 5.53 – 5.56 MbChr 11: 120.24 – 120.24 Mb
PubMed​查找[4][5]
维基数据
查看/编辑人类查看/编辑小鼠

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

参考文献

  1. ^ 與Β-肌动蛋白相關的疾病;在維基數據上查看/編輯參考. 
  2. ^ 2.0 2.1 2.2 GRCh38: Ensembl release 89: ENSG00000075624 - Ensembl, May 2017
  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. 
  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. 
  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. 
  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. 
  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). 
  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. 
  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). 
  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. 
  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. 
  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.