ACTA2

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ACTA2
Protein ACTA2 PDB 1atn.png
Identifiers
AliasesACTA2, AAT6, ACTSA, MYMY5, actin, alpha 2, smooth muscle, aorta
External IDsMGI: 87909 HomoloGene: 133938 GeneCards: ACTA2
Gene location (Human)
Chromosome 10 (human)
Chr.Chromosome 10 (human)[1]
Chromosome 10 (human)
Genomic location for ACTA2
Genomic location for ACTA2
Band10q23.31Start88,935,074 bp[1]
End88,991,339 bp[1]
RNA expression pattern
PBB GE ACTA2 200974 at fs.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001141945
NM_001613
NM_001320855

NM_007392

RefSeq (protein)

NP_001135417
NP_001307784
NP_001604

NP_031418

Location (UCSC)Chr 10: 88.94 – 88.99 MbChr 19: 34.24 – 34.26 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Alpha-actin-2 also known as actin, aortic smooth muscle or alpha smooth muscle actin (α-SMA, SMactin, alpha-SM-actin, ASMA) is a protein that in humans is encoded by the ACTA2 gene located on 10q22-q24.[5][6]

Actin alpha 2, the human aortic smooth muscle actin gene, is one of six different actin isoforms which have been identified. Actins are highly conserved proteins that are involved in cell motility, structure and integrity. Alpha actins are a major constituent of the contractile apparatus. Mutations in this gene cause a variety of vascular diseases, such as thoracic aortic disease, coronary artery disease, stroke, Moyamoya disease, and multisystemic smooth muscle dysfunction syndrome.[5]

Alpha-smooth muscle actin (α-SMA) is commonly used as a marker of myofibroblast formation.[7]

References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000107796 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000035783 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:".
  4. ^ "Mouse PubMed Reference:".
  5. ^ a b "Entrez Gene: ACTA2 actin, alpha 2, smooth muscle, aorta".
  6. ^ Ueyama H, Bruns G, Kanda N (June 1990). "Assignment of the vascular smooth muscle actin gene ACTSA to human chromosome 10". Jinrui Idengaku Zasshi. The Japanese Journal of Human Genetics. 35 (2): 145–50. doi:10.1007/BF01876459. PMID 2398629.
  7. ^ Nagamoto T, Eguchi G, Beebe DC (April 2000). "Alpha-smooth muscle actin expression in cultured lens epithelial cells". Investigative Ophthalmology & Visual Science. 41 (5): 1122–9. PMID 10752950.

Further reading[edit]

  • Snásel J, Pichová I (1997). "The cleavage of host cell proteins by HIV-1 protease". Folia Biologica. 42 (5): 227–30. doi:10.1007/BF02818986. PMID 8997639.
  • Adams LD, Tomasselli AG, Robbins P, Moss B, Heinrikson RL (February 1992). "HIV-1 protease cleaves actin during acute infection of human T-lymphocytes". AIDS Research and Human Retroviruses. 8 (2): 291–5. doi:10.1089/aid.1992.8.291. PMID 1540415.
  • Harris DE, Warshaw DM, Periasamy M (March 1992). "Nucleotide sequences of the rabbit alpha-smooth-muscle and beta-non-muscle actin mRNAs". Gene. 112 (2): 265–6. doi:10.1016/0378-1119(92)90388-6. PMID 1555776.
  • Tomasselli AG, Hui JO, Adams L, Chosay J, Lowery D, Greenberg B, Yem A, Deibel MR, Zürcher-Neely H, Heinrikson RL (August 1991). "Actin, troponin C, Alzheimer amyloid precursor protein and pro-interleukin 1 beta as substrates of the protease from human immunodeficiency virus". The Journal of Biological Chemistry. 266 (22): 14548–53. PMID 1907279.
  • Jahoda CA, Reynolds AJ, Chaponnier C, Forester JC, Gabbiani G (July 1991). "Smooth muscle alpha-actin is a marker for hair follicle dermis in vivo and in vitro". Journal of Cell Science. 99 ( Pt 3) (3): 627–36. PMID 1939373.
  • Ueyama H, Ohsugi R (March 1990). "TaqI polymorphism in the 3' flanking region of the human aortic smooth muscle actin gene". Nucleic Acids Research. 18 (5): 1318. doi:10.1093/nar/18.5.1318. PMC 330483. PMID 1969628.
  • Shoeman RL, Kesselmier C, Mothes E, Höner B, Traub P (January 1991). "Non-viral cellular substrates for human immunodeficiency virus type 1 protease". FEBS Letters. 278 (2): 199–203. doi:10.1016/0014-5793(91)80116-K. PMID 1991513.
  • Nakano Y, Nishihara T, Sasayama S, Miwa T, Kamada S, Kakunaga T (March 1991). "Transcriptional regulatory elements in the 5' upstream and first intron regions of the human smooth muscle (aortic type) alpha-actin-encoding gene". Gene. 99 (2): 285–9. doi:10.1016/0378-1119(91)90140-7. PMID 2022339.
  • Reddy S, Ozgur K, Lu M, Chang W, Mohan SR, Kumar CC, Ruley HE (January 1990). "Structure of the human smooth muscle alpha-actin gene. Analysis of a cDNA and 5' upstream region". The Journal of Biological Chemistry. 265 (3): 1683–7. PMID 2295650.
  • Kamada S, Nakano Y, Kakunaga T (December 1989). "Structure of 3'-downstream segment of the human smooth muscle (aortic-type) alpha-actin-encoding gene and isolation of the specific DNA probe". Gene. 84 (2): 455–62. doi:10.1016/0378-1119(89)90520-9. PMID 2612915.
  • Kamada S, Kakunaga T (February 1989). "The nucleotide sequence of a human smooth muscle alpha-actin (aortic type) cDNA". Nucleic Acids Research. 17 (4): 1767. doi:10.1093/nar/17.4.1767. PMC 331843. PMID 2701935.
  • Kedes L, Ng SY, Lin CS, Gunning P, Eddy R, Shows T, Leavitt J (1986). "The human beta-actin multigene family". Transactions of the Association of American Physicians. 98: 42–6. PMID 3842206.
  • Ueyama H, Hamada H, Battula N, Kakunaga T (June 1984). "Structure of a human smooth muscle actin gene (aortic type) with a unique intron site". Molecular and Cellular Biology. 4 (6): 1073–8. PMC 368875. PMID 6330528.
  • Strauch AR, Rubenstein PA (June 1984). "A vascular smooth muscle alpha-isoactin biosynthetic intermediate in BC3H1 cells. Identification of acetylcysteine at the NH2 terminus". The Journal of Biological Chemistry. 259 (11): 7224–9. PMID 6725286.
  • Ueyama H, Inazawa J, Ariyama T, Nishino H, Ochiai Y, Ohkubo I, Miwa T (March 1995). "Reexamination of chromosomal loci of human muscle actin genes by fluorescence in situ hybridization". The Japanese Journal of Human Genetics. 40 (1): 145–8. doi:10.1007/BF01874078. PMID 7780165.
  • Arora PD, McCulloch CA (April 1994). "Dependence of collagen remodelling on alpha-smooth muscle actin expression by fibroblasts". Journal of Cellular Physiology. 159 (1): 161–75. doi:10.1002/jcp.1041590120. PMID 8138584.
  • Iwata Y, Pan Y, Yoshida T, Hanada H, Shigekawa M (February 1998). "Alpha1-syntrophin has distinct binding sites for actin and calmodulin". FEBS Letters. 423 (2): 173–7. doi:10.1016/S0014-5793(98)00085-4. PMID 9512352.
  • Comer KA, Dennis PA, Armstrong L, Catino JJ, Kastan MB, Kumar CC (March 1998). "Human smooth muscle alpha-actin gene is a transcriptional target of the p53 tumor suppressor protein". Oncogene. 16 (10): 1299–308. doi:10.1038/sj.onc.1201645. PMID 9546431.

External links[edit]