骨骼肌肌动蛋白α1

位於1號人類染色體的基因

骨骼肌肌动蛋白α1英语Skeletal muscle, actin alpha 1)是一种在人类中由ACTA1基因编码的蛋白质[6][7]

骨骼肌肌动蛋白α1
已知的结构
PDB直系同源搜索: PDBe RCSB
识别号
别名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IDOMIM102610 MGI87909 HomoloGene121702 GeneCardsACTA1
相关疾病
congenital myopathy with excess of thin filaments[1]
基因位置(人类
1号染色体
染色体1号染色体[2]
1号染色体
骨骼肌肌动蛋白α1的基因位置
骨骼肌肌动蛋白α1的基因位置
基因座1q42.13起始229,430,365 bp[2]
终止229,434,104 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_001100

NM_007392

蛋白序列

NP_001091

NP_031418

基因位置​(UCSC)Chr 1: 229.43 – 229.43 MbChr 19: 34.22 – 34.23 Mb
PubMed​查找[4][5]
维基数据
查看/编辑人类查看/编辑小鼠

在骨骼肌中表达的肌动蛋白α1是已鉴定的六种不同肌动蛋白亚型之一。肌动蛋白是高度保守的蛋白质,它们参与细胞运动、结构和完整性。α肌动蛋白是收缩装置的主要成分。[8]

骨骼肌肌动蛋白基因表达

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骨骼α肌动蛋白的表达是由已知会导致肌肉形成的刺激和条件诱导的。[9]这种情况导致定型细胞(卫星细胞)融合到肌管中,形成肌纤维。骨骼肌动蛋白本身在表达时会引起其他几种“生肌基因”的表达,这些基因对肌肉形成至关重要。[10]激活骨骼肌动蛋白基因表达的一个关键转录因子血清反应因子,一种结合肌动蛋白基因启动子DNA上特定位点的蛋白质。[11]血清反应因子可以将许多其他蛋白质带到骨骼肌动蛋白的启动子,例如雄激素受体,从而有助于通过雄激素(通常称为合成代谢)类固醇诱导骨骼肌动蛋白基因表达。[12]

相互作用

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肌动蛋白α1已被证明与TMSB4X[13][14]MIB2[15]PRKCE产生相互作用。[16]

参见

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参考资料

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  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. ^ 2.0 2.1 2.2 GRCh38: Ensembl release 89: ENSG00000143632 - Ensembl, May 2017
  3. ^ 3.0 3.1 3.2 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]. (原始内容存档于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. 

延申阅读

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外部链接

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