Find Actin 1 Products |
| Gene ACTA1; Gene ACTS_Human |
| Actin, alpha 1, skeletal muscle |
| NCBI/Entrez |
58 |
| HGNC |
129 |
| UniProt/Swiss-Prot/ UniProt/TrEMBL |
P68133, Q7Z7J6, Q5T8M9 |
| Ensembl |
ENSG00000143632 |
| OMIM |
102610 |
| GeneCards |
GC01M227633 |
| Synonyms: ACTA, Actin, alpha skeletal muscle, Alpha-actin-1, ASMA, CFTD, CFTDM, MPFD, myopathy with fiber type disproportion, NEM1, NEM2, NEM3. |
Actin, alpha 1, skeletal muscle
Alpha skeletal muscle actin, skActin, is a 42 kDa, 375 amino acids long protein coded by the ACTA1 gene that is post-translationally modified (PTM) by N-terminal and N6-(Lys63) acetylation, methylation (tele-His75) and tyrosine phosphorylation (Try55, Tyr93 and Try242). It is one of six actin proteins coded by the highly conserved actin gene family. This family also includes: alpha cardiac, caActin, (ACTC1); alpha vascular, SMactin, (ACTA2); beta-actin (ACTB); gamma 1, gamma(cyto) (ACTG1) and gamma enteric, SMGA (ACTG2) actin genes. Actin isotypes are sequence diverse primarily in their N-terminal regions.
Alpha actins are differentially found in the contractile apparatus of the three muscle cell types; sarcomeric (striated) skeletal and cardiac muscle cells and non-sarcomeric smooth muscle cells. Alpha skActin is the monomeric (G-Actin) component of the two-stranded helix structural filament, filamentous actin (F-actin) of skeletal muscle. F-actin composed of skActin monomers are principle components of the thin filament components of skeletal muscle myofibrils and sarcomeres. The sarcomere is the basic structural element that mediates the contraction of striated muscle. Mutations of the ACTA1 gene compromise the structure and function of muscle myofibrils and the sarcomere. ACTA1 mutations have been linked to several myopathies (actinopathies) including nemalin myopathy type 3 (NEM3), congenital myopathy (CM) with excess thin myofilaments and congenital fiber-type disproportion myopathy (CFTDM). Genetic mutations of ACTA1 leading to actinomyopathies is an active area of medical research.
Sigma offers antibodies and shRNAs useful for the study of ACTA1 gene products.
References:
Agrawal PB, Strickland CD, Midgett C, Morales A, Newburger DE, Poulos MA, Tomczak KK, Ryan MM, Iannaccone ST, Crawford TO, Laing NG, Beggs AH. (2004) Heterogeneity of nemaline myopathy cases with skeletal muscle alpha-actin gene mutations. Ann Neurol. 56: 86-96.
Clarke NF, Ilkovski B, Cooper S, Valova VA, Robinson PJ, Nonaka I, Feng JJ, Marston S, North K. (2007) The pathogenesis of ACTA1-related congenital fiber type disproportion. Ann Neurol. 61: 552-61.
Sparrow JC, Nowak KJ, Durling HJ, Beggs AH, Wallgren-Pettersson C, Romero N, Nonaka I, Laing NG. (2003) Muscle disease caused by mutations in the skeletal muscle alpha-actin gene (ACTA1). Neuromuscul Disord. 13: 519-31.
Footnote: Gene Data Sources: HGNC, Entrez Gene, UniProt/Swiss-Prot, UniProt/TrEMBL, GDB, OMIM, GeneLoc, Ensembl.
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