Alpha-actinin-3

ACTN3
Available structures
PDB	Human UniProt search: PDBe RCSB
List of PDB id codes
	1TJT, 1WKU, 3LUE
Identifiers
Aliases	ACTN3, actinin alpha 3 (gene/pseudogene), ACTN3D, actinin alpha 3
External IDs	OMIM: 102574 GeneCards: ACTN3
Gene location (Human)
Chr.	Chromosome 11 (human)
End	66,563,334 bp
RNA expression pattern
	Top expressed in
	thoracic diaphragm; ; vastus lateralis muscle; ; gastrocnemius muscle; ; triceps brachii muscle; ; deltoid muscle; ; tibialis anterior muscle; ; oocyte; ; spongy bone; ; synovial joint; ; body of tongue;
	n/a
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	calcium ion binding; protein homodimerization activity; transmembrane transporter binding; metal ion binding; integrin binding; protein binding; actin binding; structural constituent of muscle;
Cellular component	cytosol; pseudopodium; focal adhesion; intracellular anatomical structure; actin filament; extracellular exosome;
Biological process	regulation of apoptotic process; regulation of aerobic respiration; negative regulation of glycolytic process; negative regulation of calcineurin-NFAT signaling cascade; transition between fast and slow fiber; positive regulation of glucose catabolic process to lactate via pyruvate; focal adhesion assembly; muscle filament sliding; skeletal muscle atrophy; response to denervation involved in regulation of muscle adaptation; negative regulation of oxidative phosphorylation; positive regulation of skeletal muscle tissue growth; regulation of the force of skeletal muscle contraction; negative regulation of cold-induced thermogenesis;
	Sources:Amigo / QuickGO
Orthologs
	89
	n/a
	ENSG00000248746
	n/a
	Q08043
	n/a
	NM_001104; NM_001258371
	n/a
	NP_001095; NP_001245300
	n/a
	Wikidata
View/Edit Human

Alpha-actinin-3, also known as alpha-actinin skeletal muscle isoform 3 or F-actin cross-linking protein, is a protein that in humans is encoded by the ACTN3 gene (named sprinter gene, speed gene or athlete gene) located on chromosome 11. All people have two copies (alleles) of this gene.

Alpha-actinin is an actin-binding protein with multiple roles in different cell types. This gene expression is limited to skeletal muscle. It is localized to the Z-disc and analogous dense bodies, where it helps to anchor the myofibrillar actin filaments.

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