Β-肌動蛋白

Β-肌動蛋白
已知的結構
PDB	直系同源搜索: PDBe RCSB
PDBID列表
	3BYH、3D2U、3J82、3LUE
識別號
別名	ACTB；, BRWS1, PS1TP5BP1, Beta-actin, actin, beta, actin beta
外部ID	OMIM：102630 MGI：87906 HomoloGene：110648 GeneCards：ACTB
相關疾病
	developmental malformations-deafness-dystonia syndrome、Baraitser-Winter syndrome
基因位置（人類）
染色體	7號染色體
終止	5,563,902 bp
基因位置（小鼠）
染色體	小鼠11號染色體
終止	120,239,368 bp
RNA表達模式
	; ;
	查閱更多表達數據
基因本體
分子功能	• RNA polymerase II cis-regulatory region sequence-specific DNA binding; • 核苷酸結合; • nitric-oxide synthase binding; • Tat protein binding; • structural constituent of cytoskeleton; • 血漿蛋白結合; • kinesin binding; • 相同蛋白質結合; • nucleosomal DNA binding; • ATP結合;
細胞組分	• 細胞質; • blood microparticle; • 膜; • 粘着斑; • NuA4複合體; • 細胞膜; • 核質; • cytoplasmic ribonucleoprotein granule; • 外排體; • 細胞骨架; • dense body; • cortical cytoskeleton; • 細胞質基質; • myelin sheath; • 細胞外空間;
生物學過程	• 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; • 細胞骨架組織; • 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
	維基數據
檢視/編輯人類	檢視/編輯小鼠

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]。

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

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

有證據表明，β-肌動蛋白的編碼基因ACTB突變與瀰漫大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

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

γ-肌動蛋白（英語：ACTG1）
部分常見的參考基因/參考蛋白：
- 甘油醛-3-磷酸脫氫酶（英語：Glyceraldehyde 3-phosphate dehydrogenase）（GAPDH）
- 次黃嘌呤-鳥嘌呤磷酸核苷轉移酶（HPRT）
- RPL7（英語：60S ribosomal protein L7）

參考文獻

^ 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. （原始內容存檔於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. （原始內容存檔 (PDF)於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. （原始內容存檔於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. （原始內容存檔 (PDF)於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.

[6]

[7]

[1]

[2]

[3]

[4]

[5]

[8]

[9]

[10]

[11]

[12]

[13]

[14]

[15]

[16]