Β-肌動蛋白

位於7號人類染色體的基因

β-肌動蛋白,人體內由ACTB基因編碼,是肌動蛋白的六種蛋白異構體之一。β-肌動蛋白是一種進化上高度保守的蛋白,與細胞的結構維持、移動,以及與所處環境之間的整合高度相關[6][7]

Β-肌動蛋白
已知的結構
PDB直系同源搜尋: PDBe RCSB
識別號
別名ACTB;, BRWS1, PS1TP5BP1, Beta-actin, actin, beta, actin beta
外部IDOMIM102630 MGI87906 HomoloGene110648 GeneCardsACTB
相關疾病
developmental malformations-deafness-dystonia syndrome、​Baraitser-Winter syndrome[1]
基因位置(人類
7號染色體
染色體7號染色體[2]
7號染色體
Β-肌動蛋白的基因位置
Β-肌動蛋白的基因位置
基因座7p22.1起始5,526,409 bp[2]
終止5,563,902 bp[2]
RNA表達模式


查閱更多表達數據
直系同源
物種人類小鼠
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]
維基數據
檢視/編輯人類檢視/編輯小鼠

在肌動蛋白的六種異構體中,β-肌動蛋白是兩種存在於肌肉組織之外的肌動蛋白之一(另一種是由ACTG1基因編碼的γ-肌動蛋白英語ACTG1[8]

功能

編輯

β-肌動蛋白是構成微絲的蛋白之一,在細胞中有單體與多聚體(即聚合形成微絲的狀態)兩種存在狀態[9]。β-肌動蛋白與細胞的移動、結構維持等過程密切相關,過表達β-肌動蛋白會導致細胞形態出現異常[10],純合敲除β-肌動蛋白的編碼基因Actb則會導致小鼠胚胎致死。此外,β-肌動蛋白也是細胞基因調控網絡的中間因子之一[11]

與臨床醫學的關係

編輯

有證據表明,β-肌動蛋白的編碼基因ACTB突變瀰漫大B細胞淋巴瘤的發生有關[12]。此外,也存有關於β-肌動蛋白的編碼基因ACTB突變導致嚴重發育異常耳聾和青少年發作性肌張力障礙等病徵的案例報告[13]

應用

編輯

作為一種看家基因,因β-肌動蛋白在不同細胞之間的表達水平相對穩定,β-肌動蛋白常常在蛋白免疫印跡(Western Blotting)實驗中用作內參蛋白英語Western blot normalization,用於半定性表示不同樣品之間總蛋白量的差異[14]。因為類似的原因,編碼β-肌動蛋白的ACTB基因也常常在qPCR實驗中被選為內參基因[15][16]

參見

編輯

參考文獻

編輯
  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. (原始內容存檔於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. (原始內容存檔 (PDF)於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.