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MGP000034

UniProt Annotations

Entry Information

Gene Name	actin, alpha 1, skeletal muscle
Protein Entry	ACTS_HUMAN
UniProt ID	P68133
Species	Human

Comments

Comment type	Description
Disease	Myopathy, actin, congenital, with excess of thin myofilaments (MPCETM) [MIM:161800]: A congenital muscular disorder characterized at histological level by areas of sarcoplasm devoid of normal myofibrils and mitochondria, and replaced with dense masses of thin filaments. Central cores, rods, ragged red fibers, and necrosis are absent. {ECO:0000269\|PubMed:10508519}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Disease	Myopathy, congenital, with fiber-type disproportion (CFTD) [MIM:255310]: A genetically heterogeneous disorder in which there is relative hypotrophy of type 1 muscle fibers compared to type 2 fibers on skeletal muscle biopsy. However, these findings are not specific and can be found in many different myopathic and neuropathic conditions. {ECO:0000269\|PubMed:15468086}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Disease	Nemaline myopathy 3 (NEM3) [MIM:161800]: A form of nemaline myopathy. Nemaline myopathies are muscular disorders characterized by muscle weakness of varying severity and onset, and abnormal thread-like or rod-shaped structures in muscle fibers on histologic examination. {ECO:0000269\|PubMed:10508519, ECO:0000269\|PubMed:11166164, ECO:0000269\|PubMed:11333380, ECO:0000269\|PubMed:15198992, ECO:0000269\|PubMed:15236405, ECO:0000269\|PubMed:15336687, ECO:0000269\|PubMed:15520409, ECO:0000269\|PubMed:16427282, ECO:0000269\|PubMed:16945537}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Function	Actins are highly conserved proteins that are involved in various types of cell motility and are ubiquitously expressed in all eukaryotic cells.
Miscellaneous	In vertebrates 3 main groups of actin isoforms, alpha, beta and gamma have been identified. The alpha actins are found in muscle tissues and are a major constituent of the contractile apparatus. The beta and gamma actins coexist in most cell types as components of the cytoskeleton and as mediators of internal cell motility.
Ptm	Monomethylation at Lys-86 (K84me1) regulates actin-myosin interaction and actomyosin-dependent processes. Demethylation by ALKBH4 is required for maintaining actomyosin dynamics supporting normal cleavage furrow ingression during cytokinesis and cell migration.
Ptm	Oxidation of Met-46 and Met-49 by MICALs (MICAL1, MICAL2 or MICAL3) to form methionine sulfoxide promotes actin filament depolymerization. MICAL1 and MICAL2 produce the (R)-S-oxide form. The (R)-S-oxide form is reverted by MSRB1 and MSRB2, which promote actin repolymerization (By similarity). {ECO:0000250}.
Similarity	Belongs to the actin family. {ECO:0000305}.
Subcellular Location	Cytoplasm, cytoskeleton.
Subunit	Polymerization of globular actin (G-actin) leads to a structural filament (F-actin) in the form of a two-stranded helix. Each actin can bind to 4 others. Identified in a complex composed of ACTA1, COBL, GSN AND TMSB4X (By similarity). Interacts with TTID. Interacts (via its C-terminus) with USP25; the interaction occurs for all USP25 isoforms but is strongest for isoform USP25m in muscle differentiating cells. {ECO:0000250, ECO:0000269\|PubMed:10958653, ECO:0000269\|PubMed:16501887}.