骨骼肌肌動蛋白α1

骨骼肌肌動蛋白α1（英語：Skeletal muscle, actin alpha 1）是一種在人類中由ACTA1基因編碼的蛋白質。^[6][7]

骨骼肌肌動蛋白α1
已知的結構 PDB 直系同源搜尋: PDBe RCSB PDBID列表 1T44
識別號
別名	ACTA1；, ACTA, ASMA, CFTD, CFTD1, CFTDM, MPFD, NEM1, NEM2, NEM3, Actin, alpha 1, SHPM, actin, alpha 1, skeletal muscle, actin alpha 1, skeletal muscle
外部ID	OMIM：102610 MGI：87909 HomoloGene：121702 GeneCards：ACTA1
相關疾病
congenital myopathy with excess of thin filaments[1]
基因位置（人類） 染色體 1號染色體[2] 基因座 1q42.13 起始 229,430,365 bp[2] 終止 229,434,104 bp[2]
基因位置（小鼠） 染色體 小鼠19號染色體[3] 基因座 19|19 C1 起始 34,218,490 bp[3] 終止 34,232,990 bp[3]
RNA表達模式
查閱更多表達數據
基因本體 分子功能 • 核苷酸結合 • myosin binding • ADP binding • structural constituent of cytoskeleton • 血漿蛋白結合 • ATP結合 細胞組分 • 細胞質 • cell body • 細胞質基質 • blood microparticle • 絲狀偽足 • 肌節 • striated muscle thin filament • 應力纖維 • 細胞外液 • 微絲 • actin cytoskeleton • 外排體 • 細胞骨架 • 板狀偽足 生物學過程 • 肌肉收縮 • response to steroid hormone • skeletal muscle fiber adaptation • response to mechanical stimulus • skeletal muscle thin filament assembly • response to lithium ion • 增殖 • positive regulation of gene expression • muscle filament sliding • mesenchyme migration • response to extracellular stimulus • skeletal muscle fiber development Sources:Amigo / QuickGO
直系同源
物種	人類	小鼠
Entrez	58	11475
Ensembl	ENSG00000143632	ENSMUSG00000035783
UniProt	P68133	P62737
mRNA​序列	NM_001100	NM_007392
蛋白序列	NP_001091	NP_031418
基因位置​（UCSC）	Chr 1: 229.43 – 229.43 Mb	Chr 19: 34.22 – 34.23 Mb
PubMed​查找	[4]	[5]
維基數據
檢視/編輯人類 檢視/編輯小鼠

在骨骼肌中表達的肌動蛋白α1是已鑑定的六種不同肌動蛋白亞型之一。肌動蛋白是高度保守的蛋白質，它們參與細胞運動、結構和完整性。α肌動蛋白是收縮裝置的主要成分。^[8]

骨骼肌肌動蛋白基因表達

骨骼α肌動蛋白的表達是由已知會導致肌肉形成的刺激和條件誘導的。^[9]這種情況導致定型細胞（衛星細胞）融合到肌管中，形成肌纖維。骨骼肌動蛋白本身在表達時會引起其他幾種「生肌基因」的表達，這些基因對肌肉形成至關重要。^[10]活化骨骼肌動蛋白基因表達的一個關鍵轉錄因子是血清反應因子，一種結合肌動蛋白基因啟動子DNA上特定位點的蛋白質。^[11]血清反應因子可以將許多其他蛋白質帶到骨骼肌動蛋白的啟動子，例如雄激素受體，從而有助於通過雄激素（通常稱為合成代謝）類固醇誘導骨骼肌動蛋白基因表達。^[12]

相互作用

肌動蛋白α1已被證明與TMSB4X、^[13][14]MIB2^[15]和PRKCE產生相互作用。^[16]

參見

• 肌動蛋白
• β-肌動蛋白

參考資料

1. 與骨骼肌肌动蛋白α1相關的疾病；在維基數據上查看/編輯參考.
2. GRCh38: Ensembl release 89: ENSG00000143632 - Ensembl, May 2017
3. GRCm38: Ensembl release 89: ENSMUSG00000035783 - 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. Mogensen J, Kruse TA, Børglum AD. Assignment of the human skeletal muscle [FC12]a-actin gene (ACTA1) to chromosome 1q42.13-->q42.2 by radiation hybrid mapping. Cytogenetics and Cell Genetics. March 1999, 83 (3–4): 224–5. PMID 10072583. S2CID 84202330. doi:10.1159/000015184.
7. Gunning P, Ponte P, Okayama H, Engel J, Blau H, Kedes L. Isolation and characterization of full-length cDNA clones for human alpha-, beta-, and gamma-actin mRNAs: skeletal but not cytoplasmic actins have an amino-terminal cysteine that is subsequently removed. Molecular and Cellular Biology. May 1983, 3 (5): 787–95. PMC 368601 . PMID 6865942. doi:10.1128/mcb.3.5.787.
8. Entrez Gene: ACTA1 actin, alpha 1, skeletal muscle. [2023-03-08]. （原始內容存檔於2010-03-07）.
9. Bandman E. Contractile protein isoforms in muscle development. Developmental Biology. December 1992, 154 (2): 273–83. PMID 1358730. doi:10.1016/0012-1606(92)90067-Q.
10. Gunning PW, Ferguson V, Brennan KJ, Hardeman EC. Alpha-skeletal actin induces a subset of muscle genes independently of muscle differentiation and withdrawal from the cell cycle. Journal of Cell Science. February 2001, 114 (Pt 3): 513–24. PMID 11171321. doi:10.1242/jcs.114.3.513.
11. Belaguli NS, Zhou W, Trinh TH, Majesky MW, Schwartz RJ. Dominant negative murine serum response factor: alternative splicing within the activation domain inhibits transactivation of serum response factor binding targets. Molecular and Cellular Biology. July 1999, 19 (7): 4582–91. PMC 84256 . PMID 10373507. doi:10.1128/mcb.19.7.4582.
12. Vlahopoulos S, Zimmer WE, Jenster G, Belaguli NS, Balk SP, Brinkmann AO, Lanz RB, Zoumpourlis VC, Schwartz RJ. Recruitment of the androgen receptor via serum response factor facilitates expression of a myogenic gene. The Journal of Biological Chemistry. March 2005, 280 (9): 7786–92. PMID 15623502. doi:10.1074/jbc.M413992200 .
13. Ballweber E, Hannappel E, Huff T, Stephan H, Haener M, Taschner N, Stoffler D, Aebi U, Mannherz HG. Polymerisation of chemically cross-linked actin:thymosin beta(4) complex to filamentous actin: alteration in helical parameters and visualisation of thymosin beta(4) binding on F-actin. Journal of Molecular Biology. January 2002, 315 (4): 613–25. PMID 11812134. doi:10.1006/jmbi.2001.5281.
14. Safer D, Sosnick TR, Elzinga M. Thymosin beta 4 binds actin in an extended conformation and contacts both the barbed and pointed ends. Biochemistry. May 1997, 36 (19): 5806–16. PMID 9153421. doi:10.1021/bi970185v.
15. Takeuchi T, Heng HH, Ye CJ, Liang SB, Iwata J, Sonobe H, Ohtsuki Y. Down-regulation of a novel actin-binding molecule, skeletrophin, in malignant melanoma. The American Journal of Pathology. October 2003, 163 (4): 1395–404. PMC 1868282 . PMID 14507647. doi:10.1016/S0002-9440(10)63497-9.
16. England K, Ashford D, Kidd D, Rumsby M. PKC epsilon is associated with myosin IIA and actin in fibroblasts. Cellular Signalling. June 2002, 14 (6): 529–36. PMID 11897493. doi:10.1016/S0898-6568(01)00277-7.

延申閱讀

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• Ogawa H, Shiraki H, Matsuda Y, Nakagawa H. Interaction of adenylosuccinate synthetase with F-actin. European Journal of Biochemistry. April 1978, 85 (2): 331–7. PMID 648524. doi:10.1111/j.1432-1033.1978.tb12243.x.
• den Hartigh JC, van Bergen en Henegouwen PM, Verkleij AJ, Boonstra J. The EGF receptor is an actin-binding protein. The Journal of Cell Biology. October 1992, 119 (2): 349–55. PMC 2289650 . PMID 1383230. doi:10.1083/jcb.119.2.349.
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外部連結

• GeneReviews/NCBI/NIH/UW entry on Nemaline Myopathy （頁面存檔備份，存於互聯網檔案館）
• Human ACTA1 genome location and ACTA1 gene details page in the UCSC Genome Browser（英語：UCSC Genome Browser）.